4604 lines
400 KiB
Text
4604 lines
400 KiB
Text
|
|
|
|
|
|
|
|
|
|
<!DOCTYPE html>
|
|
<html xmlns="http://www.w3.org/1999/xhtml" lang="en-us" xml:lang="en-us" >
|
|
|
|
<head>
|
|
|
|
|
|
|
|
<!--
|
|
################################# CRAWLER WARNING #################################
|
|
|
|
- The terms of service and the robots.txt file disallows crawling of this site,
|
|
please see https://omim.org/help/agreement for more information.
|
|
|
|
- A number of data files are available for download at https://omim.org/downloads.
|
|
|
|
- We have an API which you can learn about at https://omim.org/help/api and register
|
|
for at https://omim.org/api, this provides access to the data in JSON & XML formats.
|
|
|
|
- You should feel free to contact us at https://omim.org/contact to figure out the best
|
|
approach to getting the data you need for your work.
|
|
|
|
- WE WILL AUTOMATICALLY BLOCK YOUR IP ADDRESS IF YOU CRAWL THIS SITE.
|
|
|
|
- WE WILL ALSO AUTOMATICALLY BLOCK SUB-DOMAINS AND ADDRESS RANGES IMPLICATED IN
|
|
DISTRIBUTED CRAWLS OF THIS SITE.
|
|
|
|
################################# CRAWLER WARNING #################################
|
|
-->
|
|
|
|
|
|
|
|
<meta http-equiv="content-type" content="text/html; charset=utf-8" />
|
|
<meta http-equiv="cache-control" content="no-cache" />
|
|
<meta http-equiv="pragma" content="no-cache" />
|
|
<meta name="robots" content="index, follow" />
|
|
|
|
|
|
<meta name="viewport" content="width=device-width, initial-scale=1" />
|
|
<meta http-equiv="X-UA-Compatible" content="IE=edge" />
|
|
|
|
|
|
<meta name="title" content="Online Mendelian Inheritance in Man (OMIM)" />
|
|
<meta name="description" content="Online Mendelian Inheritance in Man (OMIM) is a comprehensive, authoritative
|
|
compendium of human genes and genetic phenotypes that is freely available and updated daily. The full-text,
|
|
referenced overviews in OMIM contain information on all known mendelian disorders and over 15,000 genes.
|
|
OMIM focuses on the relationship between phenotype and genotype. It is updated daily, and the entries
|
|
contain copious links to other genetics resources." />
|
|
<meta name="keywords" content="Mendelian Inheritance in Man, OMIM, Mendelian diseases, Mendelian disorders, genetic diseases,
|
|
genetic disorders, genetic disorders in humans, genetic phenotypes, phenotype and genotype, disease models, alleles,
|
|
genes, dna, genetics, dna testing, gene testing, clinical synopsis, medical genetics" />
|
|
<meta name="theme-color" content="#333333" />
|
|
<link rel="icon" href="/static/omim/favicon.png" />
|
|
<link rel="apple-touch-icon" href="/static/omim/favicon.png" />
|
|
<link rel="manifest" href="/static/omim/manifest.json" />
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<script id='mimBrowserCapability'>
|
|
function _0x5069(){const _0x4b1387=['91sZIeLc','mimBrowserCapability','15627zshTnf','710004yxXedd','34LxqNYj','match','disconnect','1755955rnzTod','observe','1206216ZRfBWB','575728fqgsYy','webdriver','documentElement','close','open','3086704utbakv','7984143PpiTpt'];_0x5069=function(){return _0x4b1387;};return _0x5069();}function _0xe429(_0x472ead,_0x43eb70){const _0x506916=_0x5069();return _0xe429=function(_0xe42949,_0x1aaefc){_0xe42949=_0xe42949-0x1a9;let _0xe6add8=_0x506916[_0xe42949];return _0xe6add8;},_0xe429(_0x472ead,_0x43eb70);}(function(_0x337daa,_0x401915){const _0x293f03=_0xe429,_0x5811dd=_0x337daa();while(!![]){try{const _0x3dc3a3=parseInt(_0x293f03(0x1b4))/0x1*(-parseInt(_0x293f03(0x1b6))/0x2)+parseInt(_0x293f03(0x1b5))/0x3+parseInt(_0x293f03(0x1b0))/0x4+-parseInt(_0x293f03(0x1b9))/0x5+parseInt(_0x293f03(0x1aa))/0x6+-parseInt(_0x293f03(0x1b2))/0x7*(parseInt(_0x293f03(0x1ab))/0x8)+parseInt(_0x293f03(0x1b1))/0x9;if(_0x3dc3a3===_0x401915)break;else _0x5811dd['push'](_0x5811dd['shift']());}catch(_0x4dd27b){_0x5811dd['push'](_0x5811dd['shift']());}}}(_0x5069,0x84d63),(function(){const _0x9e4c5f=_0xe429,_0x363a26=new MutationObserver(function(){const _0x458b09=_0xe429;if(document!==null){let _0x2f0621=![];navigator[_0x458b09(0x1ac)]!==![]&&(_0x2f0621=!![]);for(const _0x427dda in window){_0x427dda[_0x458b09(0x1b7)](/cdc_[a-z0-9]/ig)&&(_0x2f0621=!![]);}_0x2f0621===!![]?document[_0x458b09(0x1af)]()[_0x458b09(0x1ae)]():(_0x363a26[_0x458b09(0x1b8)](),document['getElementById'](_0x458b09(0x1b3))['remove']());}});_0x363a26[_0x9e4c5f(0x1a9)](document[_0x9e4c5f(0x1ad)],{'childList':!![]});}()));
|
|
</script>
|
|
|
|
|
|
|
|
<link rel='preconnect' href='https://cdn.jsdelivr.net' />
|
|
<link rel='preconnect' href='https://cdnjs.cloudflare.com' />
|
|
|
|
<link rel="preconnect" href="https://www.googletagmanager.com" />
|
|
|
|
|
|
|
|
|
|
|
|
<script src="https://cdn.jsdelivr.net/npm/jquery@3.7.1/dist/jquery.min.js" integrity="sha256-/JqT3SQfawRcv/BIHPThkBvs0OEvtFFmqPF/lYI/Cxo=" crossorigin="anonymous"></script>
|
|
<script src="https://cdn.jsdelivr.net/npm/jquery-migrate@3.5.2/dist/jquery-migrate.js" integrity="sha256-ThFcNr/v1xKVt5cmolJIauUHvtXFOwwqiTP7IbgP8EU=" crossorigin="anonymous"></script>
|
|
|
|
|
|
|
|
|
|
<script src="https://cdn.jsdelivr.net/npm/bootstrap@3.4.1/dist/js/bootstrap.min.js" integrity="sha256-nuL8/2cJ5NDSSwnKD8VqreErSWHtnEP9E7AySL+1ev4=" crossorigin="anonymous"></script>
|
|
<link rel="stylesheet" href="https://cdn.jsdelivr.net/npm/bootstrap@3.4.1/dist/css/bootstrap.min.css" integrity="sha256-bZLfwXAP04zRMK2BjiO8iu9pf4FbLqX6zitd+tIvLhE=" crossorigin="anonymous">
|
|
<link rel="stylesheet" href="https://cdn.jsdelivr.net/npm/bootstrap@3.4.1/dist/css/bootstrap-theme.min.css" integrity="sha256-8uHMIn1ru0GS5KO+zf7Zccf8Uw12IA5DrdEcmMuWLFM=" crossorigin="anonymous">
|
|
|
|
|
|
|
|
|
|
<script src="https://cdn.jsdelivr.net/npm/moment@2.29.4/min/moment.min.js" integrity="sha256-80OqMZoXo/w3LuatWvSCub9qKYyyJlK0qnUCYEghBx8=" crossorigin="anonymous"></script>
|
|
<script src="https://cdn.jsdelivr.net/npm/eonasdan-bootstrap-datetimepicker@4.17.49/build/js/bootstrap-datetimepicker.min.js" integrity="sha256-dYxUtecag9x4IaB2vUNM34sEso6rWTgEche5J6ahwEQ=" crossorigin="anonymous"></script>
|
|
<link rel="stylesheet" href="https://cdn.jsdelivr.net/npm/eonasdan-bootstrap-datetimepicker@4.17.49/build/css/bootstrap-datetimepicker.min.css" integrity="sha256-9FNpuXEYWYfrusiXLO73oIURKAOVzqzkn69cVqgKMRY=" crossorigin="anonymous">
|
|
|
|
|
|
|
|
|
|
<script src="https://cdn.jsdelivr.net/npm/qtip2@3.0.3/dist/jquery.qtip.min.js" integrity="sha256-a+PRq3NbyK3G08Boio9X6+yFiHpTSIrbE7uzZvqmDac=" crossorigin="anonymous"></script>
|
|
<link rel="stylesheet" href="https://cdn.jsdelivr.net/npm/qtip2@3.0.3/dist/jquery.qtip.min.css" integrity="sha256-JvdVmxv7Q0LsN1EJo2zc1rACwzatOzkyx11YI4aP9PY=" crossorigin="anonymous">
|
|
|
|
|
|
|
|
|
|
<script src="https://cdn.jsdelivr.net/npm/devbridge-autocomplete@1.4.11/dist/jquery.autocomplete.min.js" integrity="sha256-BNpu3uLkB3SwY3a2H3Ue7WU69QFdSRlJVBrDTnVKjiA=" crossorigin="anonymous"></script>
|
|
|
|
|
|
|
|
|
|
<script src="https://cdn.jsdelivr.net/npm/jquery-validation@1.21.0/dist/jquery.validate.min.js" integrity="sha256-umbTaFxP31Fv6O1itpLS/3+v5fOAWDLOUzlmvOGaKV4=" crossorigin="anonymous"></script>
|
|
|
|
|
|
|
|
|
|
<script src="https://cdn.jsdelivr.net/npm/js-cookie@3.0.5/dist/js.cookie.min.js" integrity="sha256-WCzAhd2P6gRJF9Hv3oOOd+hFJi/QJbv+Azn4CGB8gfY=" crossorigin="anonymous"></script>
|
|
|
|
|
|
|
|
|
|
<script src="https://cdnjs.cloudflare.com/ajax/libs/ScrollToFixed/1.0.8/jquery-scrolltofixed-min.js" integrity="sha512-ohXbv1eFvjIHMXG/jY057oHdBZ/jhthP1U3jES/nYyFdc9g6xBpjDjKIacGoPG6hY//xVQeqpWx8tNjexXWdqA==" crossorigin="anonymous"></script>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<script async src="https://www.googletagmanager.com/gtag/js?id=G-HMPSQC23JJ"></script>
|
|
<script>
|
|
window.dataLayer = window.dataLayer || [];
|
|
function gtag(){window.dataLayer.push(arguments);}
|
|
gtag("js", new Date());
|
|
gtag("config", "G-HMPSQC23JJ");
|
|
</script>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<script src="/static/omim/js/site.js?version=Zmk5Y1" integrity="sha256-fi9cXywxCO5p0mU1OSWcMp0DTQB4s8ncFR8j+IO840s="></script>
|
|
|
|
|
|
<link rel="stylesheet" href="/static/omim/css/site.css?version=VGE4MF" integrity="sha256-Ta80Qpm3w1S8kmnN0ornbsZxdfA32R42R4ncsbos0YU=" />
|
|
|
|
|
|
<script src="/static/omim/js/entry/entry.js?version=anMvRU" integrity="sha256-js/EBOBZzGDctUqr1VhnNPzEiA7w3HM5JbFmOj2CW84="></script>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div id="mimBootstrapDeviceSize">
|
|
<div class="visible-xs" data-mim-bootstrap-device-size="xs"></div>
|
|
<div class="visible-sm" data-mim-bootstrap-device-size="sm"></div>
|
|
<div class="visible-md" data-mim-bootstrap-device-size="md"></div>
|
|
<div class="visible-lg" data-mim-bootstrap-device-size="lg"></div>
|
|
</div>
|
|
|
|
|
|
|
|
<title>
|
|
|
|
Entry
|
|
|
|
- #607174 - MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO
|
|
|
|
|
|
- OMIM
|
|
|
|
</title>
|
|
|
|
|
|
|
|
</head>
|
|
|
|
<body>
|
|
<div id="mimBody">
|
|
|
|
|
|
|
|
<div id="mimHeader" class="hidden-print">
|
|
|
|
|
|
|
|
<nav class="navbar navbar-inverse navbar-fixed-top mim-navbar-background">
|
|
<div class="container-fluid">
|
|
|
|
<!-- Brand and toggle get grouped for better mobile display -->
|
|
<div class="navbar-header">
|
|
<button type="button" class="navbar-toggle collapsed" data-toggle="collapse" data-target="#mimNavbarCollapse" aria-expanded="false">
|
|
<span class="sr-only"> Toggle navigation </span>
|
|
<span class="icon-bar"></span>
|
|
<span class="icon-bar"></span>
|
|
<span class="icon-bar"></span>
|
|
</button>
|
|
<a class="navbar-brand" href="/"><img alt="OMIM" src="/static/omim/icons/OMIM_davinciman.001.png" height="30" width="30"></a>
|
|
</div>
|
|
|
|
<div id="mimNavbarCollapse" class="collapse navbar-collapse">
|
|
|
|
<ul class="nav navbar-nav">
|
|
|
|
|
|
<li>
|
|
<a href="/help/about"><span class="mim-navbar-menu-font"> About </span></a>
|
|
</li>
|
|
|
|
|
|
|
|
<li class="dropdown">
|
|
<a href="#" id="mimStatisticsDropdown" class="dropdown-toggle" data-toggle="dropdown" role="button" aria-haspopup="true" aria-expanded="false"><span class="mim-navbar-menu-font"> Statistics <span class="caret"></span></span></a>
|
|
<ul class="dropdown-menu" role="menu" aria-labelledby="statisticsDropdown">
|
|
<li>
|
|
<a href="/statistics/update"> Update List </a>
|
|
</li>
|
|
<li>
|
|
<a href="/statistics/entry"> Entry Statistics </a>
|
|
</li>
|
|
<li>
|
|
<a href="/statistics/geneMap"> Phenotype-Gene Statistics </a>
|
|
</li>
|
|
<li>
|
|
<a href="/statistics/paceGraph"> Pace of Gene Discovery Graph </a>
|
|
</li>
|
|
</ul>
|
|
</li>
|
|
|
|
|
|
|
|
<li class="dropdown">
|
|
<a href="#" id="mimDownloadsDropdown" class="dropdown-toggle" data-toggle="dropdown" role="button" aria-haspopup="true" aria-expanded="false"><span class="mim-navbar-menu-font"> Downloads <span class="caret"></span></span></a>
|
|
<ul class="dropdown-menu" role="menu" aria-labelledby="downloadsDropdown">
|
|
|
|
<li>
|
|
<a href="/downloads/"> Register for Downloads </a>
|
|
</li>
|
|
<li>
|
|
<a href="/api"> Register for API Access </a>
|
|
</li>
|
|
|
|
</ul>
|
|
</li>
|
|
|
|
|
|
|
|
<li>
|
|
<a href="/contact?mimNumber=607174"><span class="mim-navbar-menu-font"> Contact Us </span></a>
|
|
</li>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<li>
|
|
|
|
<a href="/mimmatch/">
|
|
|
|
<span class="mim-navbar-menu-font">
|
|
<span class="mim-tip-bottom" qtip_title="<strong>MIMmatch</strong>" qtip_text="MIMmatch is a way to follow OMIM entries that interest you and to find other researchers who may share interest in the same entries. <br /><br />A bonus to all MIMmatch users is the option to sign up for updates on new gene-phenotype relationships.">
|
|
MIMmatch
|
|
</span>
|
|
</span>
|
|
</a>
|
|
</li>
|
|
|
|
|
|
|
|
|
|
<li class="dropdown">
|
|
<a href="#" id="mimDonateDropdown" class="dropdown-toggle" data-toggle="dropdown" role="button" aria-haspopup="true" aria-expanded="false"><span class="mim-navbar-menu-font"> Donate <span class="caret"></span></span></a>
|
|
<ul class="dropdown-menu" role="menu" aria-labelledby="donateDropdown">
|
|
<li>
|
|
<a href="https://secure.jhu.edu/form/OMIM" target="_blank" onclick="gtag('event', 'mim_donation', {'destination': 'secure.jhu.edu'})"> Donate! </a>
|
|
</li>
|
|
<li>
|
|
<a href="/donors"> Donors </a>
|
|
</li>
|
|
</ul>
|
|
</li>
|
|
|
|
|
|
|
|
<li class="dropdown">
|
|
<a href="#" id="mimHelpDropdown" class="dropdown-toggle" data-toggle="dropdown" role="button" aria-haspopup="true" aria-expanded="false"><span class="mim-navbar-menu-font"> Help <span class="caret"></span></span></a>
|
|
<ul class="dropdown-menu" role="menu" aria-labelledby="helpDropdown">
|
|
<li>
|
|
<a href="/help/faq"> Frequently Asked Questions (FAQs) </a>
|
|
</li>
|
|
<li role="separator" class="divider"></li>
|
|
<li>
|
|
<a href="/help/search"> Search Help </a>
|
|
</li>
|
|
<li>
|
|
<a href="/help/linking"> Linking Help </a>
|
|
</li>
|
|
<li>
|
|
<a href="/help/api"> API Help </a>
|
|
</li>
|
|
<li role="separator" class="divider"></li>
|
|
<li>
|
|
<a href="/help/external"> External Links </a>
|
|
</li>
|
|
<li role="separator" class="divider"></li>
|
|
<li>
|
|
<a href="/help/agreement"> Use Agreement </a>
|
|
</li>
|
|
<li>
|
|
<a href="/help/copyright"> Copyright </a>
|
|
</li>
|
|
</ul>
|
|
</li>
|
|
|
|
|
|
|
|
<li>
|
|
<a href="#" id="mimShowTips" class="mim-tip-hint" title="Click to reveal all tips on the page. You can also hover over individual elements to reveal the tip."><span class="mim-navbar-menu-font"><span class="glyphicon glyphicon-question-sign" aria-hidden="true"></span></span></a>
|
|
</li>
|
|
|
|
|
|
</ul>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
</nav>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div id="mimSearch" class="hidden-print">
|
|
|
|
<div class="container">
|
|
|
|
<form method="get" action="/search" id="mimEntrySearchForm" name="entrySearchForm" class="form-horizontal">
|
|
|
|
<input type="hidden" id="mimSearchIndex" name="index" value="entry" />
|
|
<input type="hidden" id="mimSearchStart" name="start" value="1" />
|
|
<input type="hidden" id="mimSearchLimit" name="limit" value="10" />
|
|
<input type="hidden" id="mimSearchSort" name="sort" value="score desc, prefix_sort desc" />
|
|
|
|
|
|
<div class="row">
|
|
|
|
<div class="col-lg-8 col-md-8 col-sm-8 col-xs-8">
|
|
<div class="form-group">
|
|
<div class="input-group">
|
|
<input type="search" id="mimEntrySearch" name="search" class="form-control" value="" placeholder="Search OMIM..." maxlength="5000" autocomplete="off" autocorrect="off" autocapitalize="none" spellcheck="false" autofocus />
|
|
<div class="input-group-btn">
|
|
<button type="submit" id="mimEntrySearchSubmit" class="btn btn-default" style="width: 5em;"><span class="glyphicon glyphicon-search"></span></button>
|
|
<button type="button" class="btn btn-default dropdown-toggle" data-toggle="dropdown"> Options <span class="caret"></span></button>
|
|
<ul class="dropdown-menu dropdown-menu-right">
|
|
<li class="dropdown-header">
|
|
Advanced Search
|
|
</li>
|
|
<li style="margin-left: 0.5em;">
|
|
<a href="/search/advanced/entry"> OMIM </a>
|
|
</li>
|
|
<li style="margin-left: 0.5em;">
|
|
<a href="/search/advanced/clinicalSynopsis"> Clinical Synopses </a>
|
|
</li>
|
|
<li style="margin-left: 0.5em;">
|
|
<a href="/search/advanced/geneMap"> Gene Map </a>
|
|
</li>
|
|
|
|
|
|
|
|
|
|
<li role="separator" class="divider"></li>
|
|
<li>
|
|
<a href="/history"> Search History </a>
|
|
</li>
|
|
|
|
|
|
</ul>
|
|
</div>
|
|
</div>
|
|
<div class="autocomplete" id="mimEntrySearchAutocomplete"></div>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<div class="col-lg-4 col-md-4 col-sm-4 col-xs-4">
|
|
<span class="small">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
</form>
|
|
|
|
<div class="row">
|
|
<p />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
<!-- <div id="mimSearch"> -->
|
|
|
|
|
|
|
|
|
|
<div id="mimContent">
|
|
|
|
|
|
|
|
<div class="container hidden-print">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div class="row">
|
|
|
|
<div class="col-lg-12 col-md-12 col-sm-12 col-xs-12">
|
|
|
|
<div id="mimAlertBanner">
|
|
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
<div class="row">
|
|
|
|
|
|
|
|
|
|
<div class="col-lg-2 col-md-2 col-sm-2 hidden-sm hidden-xs">
|
|
|
|
<div id="mimFloatingTocMenu" class="small" role="navigation">
|
|
|
|
<p>
|
|
<span class="h4">#607174</span>
|
|
<br />
|
|
<strong>Table of Contents</strong>
|
|
</p>
|
|
|
|
<nav>
|
|
<ul id="mimFloatingTocMenuItems" class="nav nav-pills nav-stacked mim-floating-toc-padding">
|
|
|
|
<li role="presentation">
|
|
<a href="#title"><strong>Title</strong></a>
|
|
</li>
|
|
|
|
|
|
|
|
|
|
<li role="presentation">
|
|
<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
|
|
</li>
|
|
|
|
|
|
|
|
<li role="presentation">
|
|
<a href="/clinicalSynopsis/607174"><strong>Clinical Synopsis</strong></a>
|
|
</li>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<li role="presentation">
|
|
<a href="#text"><strong>Text</strong></a>
|
|
</li>
|
|
|
|
|
|
|
|
|
|
<li role="presentation" style="margin-left: 1em">
|
|
<a href="#description">Description</a>
|
|
</li>
|
|
|
|
|
|
|
|
<li role="presentation" style="margin-left: 1em">
|
|
<a href="#clinicalFeatures">Clinical Features</a>
|
|
</li>
|
|
|
|
|
|
|
|
<li role="presentation" style="margin-left: 1em">
|
|
<a href="#inheritance">Inheritance</a>
|
|
</li>
|
|
|
|
|
|
|
|
<li role="presentation" style="margin-left: 1em">
|
|
<a href="#cytogenetics">Cytogenetics</a>
|
|
</li>
|
|
|
|
|
|
|
|
<li role="presentation" style="margin-left: 1em">
|
|
<a href="#mapping">Mapping</a>
|
|
</li>
|
|
|
|
|
|
|
|
<li role="presentation" style="margin-left: 1em">
|
|
<a href="#molecularGenetics">Molecular Genetics</a>
|
|
</li>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<li role="presentation">
|
|
<a href="#seeAlso"><strong>See Also</strong></a>
|
|
</li>
|
|
|
|
|
|
|
|
<li role="presentation">
|
|
<a href="#references"><strong>References</strong></a>
|
|
</li>
|
|
|
|
|
|
|
|
<li role="presentation">
|
|
<a href="#contributors"><strong>Contributors</strong></a>
|
|
</li>
|
|
|
|
|
|
|
|
<li role="presentation">
|
|
<a href="#creationDate"><strong>Creation Date</strong></a>
|
|
</li>
|
|
|
|
|
|
|
|
<li role="presentation">
|
|
<a href="#editHistory"><strong>Edit History</strong></a>
|
|
</li>
|
|
|
|
</ul>
|
|
|
|
</nav>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
<div class="col-lg-2 col-lg-push-8 col-md-2 col-md-push-8 col-sm-2 col-sm-push-8 col-xs-12">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div id="mimFloatingLinksMenu">
|
|
|
|
<div class="panel panel-primary" style="margin-bottom: 0px; border-radius: 4px 4px 0px 0px">
|
|
<div class="panel-heading mim-panel-heading" role="tab" id="mimExternalLinks">
|
|
<h4 class="panel-title">
|
|
<a href="#mimExternalLinksFold" id="mimExternalLinksToggle" class="mimTriangleToggle" role="button" data-toggle="collapse">
|
|
<div style="display: table-row">
|
|
<div id="mimExternalLinksToggleTriangle" class="small" style="color: white; display: table-cell;">▼</div>
|
|
|
|
<div style="display: table-cell;">External Links</div>
|
|
</div>
|
|
</a>
|
|
</h4>
|
|
</div>
|
|
</div>
|
|
|
|
<div id="mimExternalLinksFold" class="collapse in">
|
|
|
|
<div class="panel-group" id="mimExternalLinksAccordion" role="tablist" aria-multiselectable="true">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
|
|
<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
|
|
<span class="panel-title">
|
|
<span class="small">
|
|
<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class=" mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
|
<div style="display: table-row">
|
|
<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">▼</div>
|
|
|
|
<div style="display: table-cell;">Clinical Resources</div>
|
|
</div>
|
|
</a>
|
|
</span>
|
|
</span>
|
|
</div>
|
|
<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse in mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
|
|
<div class="panel-body small mim-panel-body">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div><a href="https://clinicaltrials.gov/search?cond=(MENINGIOMA, FAMILIAL) OR (PTEN OR MN1 OR SUFU OR PDGFB OR SMARCE1 OR NF2)" class="mim-tip-hint" title="Clinical Trials" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=20073&Typ=Pat" class="mim-tip-hint" title="A list of European laboratories that offer genetic testing." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">EuroGentest</a></div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div><a href="https://www.diseaseinfosearch.org/x/8813" class="mim-tip-hint" title="Network of disease-specific advocacy organizations, universities, private companies, government agencies, and public policy organizations." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Genetic Alliance', 'domain': 'diseaseinfosearch.org'})">Genetic Alliance</a></div>
|
|
|
|
|
|
|
|
|
|
|
|
<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=607174[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=263662" class="mim-tip-hint" title="European reference portal for information on rare diseases and orphan drugs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">OrphaNet</a></div>
|
|
|
|
|
|
|
|
|
|
|
|
</div>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
|
|
<div class="panel-heading mim-panel-heading" role="tab" id="mimAnimalModels">
|
|
<span class="panel-title">
|
|
<span class="small">
|
|
<a href="#mimAnimalModelsLinksFold" id="mimAnimalModelsLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
|
<div style="display: table-row">
|
|
<div id="mimAnimalModelsLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
|
|
|
|
<div style="display: table-cell;">Animal Models</div>
|
|
</div>
|
|
</a>
|
|
</span>
|
|
</span>
|
|
</div>
|
|
<div id="mimAnimalModelsLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
|
|
<div class="panel-body small mim-panel-body">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div><a href="https://omia.org/OMIA002634/" class="mim-tip-hint" title="Online Mendelian Inheritance in Animals (OMIA) is a database of genes, inherited disorders and traits in 191 animal species (other than human and mouse.)" target="_blank">OMIA</a></div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
</div>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
<span>
|
|
<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
|
|
|
|
</span>
|
|
</span>
|
|
|
|
|
|
|
|
|
|
</div>
|
|
|
|
|
|
|
|
<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
|
|
|
|
<div>
|
|
|
|
<a id="title" class="mim-anchor"></a>
|
|
|
|
<div>
|
|
<a id="number" class="mim-anchor"></a>
|
|
<div class="text-right">
|
|
|
|
|
|
|
|
<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
|
|
|
|
|
|
|
|
|
|
<strong>ORPHA:</strong> 263662<br />
|
|
|
|
|
|
|
|
">ICD+</a>
|
|
|
|
</div>
|
|
<div>
|
|
<span class="h3">
|
|
<span class="mim-font mim-tip-hint" title="Phenotype description, molecular basis known">
|
|
<span class="text-danger"><strong>#</strong></span>
|
|
607174
|
|
</span>
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
<div>
|
|
<a id="preferredTitle" class="mim-anchor"></a>
|
|
<h3>
|
|
<span class="mim-font">
|
|
|
|
MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO
|
|
|
|
</span>
|
|
</h3>
|
|
</div>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<a id="phenotypeMap" class="mim-anchor"></a>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Phenotype-Gene Relationships</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
|
<thead>
|
|
<tr class="active">
|
|
<th>
|
|
Location
|
|
</th>
|
|
<th>
|
|
Phenotype
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> MIM number
|
|
</th>
|
|
<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
|
<th>
|
|
Gene/Locus
|
|
</th>
|
|
<th>
|
|
Gene/Locus <br /> MIM number
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/geneMap/10/368?start=-3&limit=10&highlight=368">
|
|
10q23.31
|
|
</a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
{Meningioma}
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/607174"> 607174 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
PTEN
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/601728"> 601728 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/geneMap/10/521?start=-3&limit=10&highlight=521">
|
|
10q24.32
|
|
</a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
{Meningioma, familial, susceptibility to}
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/607174"> 607174 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
SUFU
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/607035"> 607035 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/geneMap/17/519?start=-3&limit=10&highlight=519">
|
|
17q21.2
|
|
</a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
{Meningioma, familial, susceptibility to}
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/607174"> 607174 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
SMARCE1
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/603111"> 603111 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/geneMap/22/137?start=-3&limit=10&highlight=137">
|
|
22q12.1
|
|
</a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Meningioma
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/607174"> 607174 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
MN1
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/156100"> 156100 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/geneMap/22/155?start=-3&limit=10&highlight=155">
|
|
22q12.2
|
|
</a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Meningioma, NF2-related, somatic
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/607174"> 607174 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
NF2
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/607379"> 607379 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/geneMap/22/291?start=-3&limit=10&highlight=291">
|
|
22q13.1
|
|
</a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Meningioma, SIS-related
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/607174"> 607174 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
PDGFB
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/190040"> 190040 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
</tbody>
|
|
</table>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
|
|
|
|
<div class="btn-group ">
|
|
<a href="/clinicalSynopsis/607174" class="btn btn-warning" role="button"> Clinical Synopsis </a>
|
|
<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-warning dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimClinicalSynopsisFold" onclick="ga('send', 'event', 'Unfurl', 'ClinicalSynopsis', 'omim.org')">
|
|
<span class="caret"></span>
|
|
<span class="sr-only">Toggle Dropdown</span>
|
|
</button>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div class="btn-group">
|
|
<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
|
</button>
|
|
<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/607174" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/607174" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
|
</ul>
|
|
</div>
|
|
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
|
|
|
|
|
|
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
|
|
<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
|
|
<div class="small" style="margin: 5px">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> INHERITANCE </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Autosomal dominant <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/263681008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">263681008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/771269000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">771269000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0443147&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0443147</a>, <a href="https://bioportal.bioontology.org/search?q=C1867440&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1867440</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> NEOPLASIA </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Meningioma <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/724171006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">724171006</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/1157019008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">1157019008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/D32.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">D32.9</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0025286&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0025286</a>, <a href="https://bioportal.bioontology.org/search?q=C0281784&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0281784</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002858" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002858</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002858" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002858</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> MISCELLANEOUS </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Adult onset <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1853562&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1853562</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003581" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003581</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003581" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003581</a>]</span><br /> -
|
|
More common in women<br /> -
|
|
Frequency increases with advancing age<br /> -
|
|
High recurrence rate<br /> -
|
|
Incomplete penetrance <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1836598&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1836598</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003829" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003829</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003829" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003829</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> MOLECULAR BASIS </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Caused by mutation in the homolog of the Drosophila suppressor of fused gene (SUFU, <a href="/entry/607035#0007">607035.0007</a>)<br /> -
|
|
Caused by mutation in the SWI/SNF-related, matrix-associated, actin-dependent regulator of chromatin, subfamily 1, member 1 gene (SMARCE1, <a href="/entry/603111#0002">603111.0002</a>).<br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div class="text-right">
|
|
<a href="#mimClinicalSynopsisFold" data-toggle="collapse">▲ Close</a>
|
|
</div>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<a id="text" class="mim-anchor"></a>
|
|
|
|
|
|
|
|
<h4 href="#mimTextFold" id="mimTextToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
|
<span id="mimTextToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
|
|
|
<span class="mim-font">
|
|
<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
|
|
<strong>TEXT</strong>
|
|
</span>
|
|
</span>
|
|
</h4>
|
|
|
|
|
|
|
|
|
|
|
|
<div id="mimTextFold" class="collapse in ">
|
|
<span class="mim-text-font">
|
|
<p>A number sign (#) is used with this entry because susceptibility to the development of meningioma is caused by heterozygous mutation in the SMARCE1 gene (<a href="/entry/603111">603111</a>) on chromosome 17q21.</p><p>Heterozygous germline mutations in the SUFU gene (<a href="/entry/607035">607035</a>) on chromosome 10q24 and in the PDGFB gene (<a href="/entry/190040">190040</a>) on chromosome 22q, respectively, have been reported in 1 family with meningioma.</p><p>Somatic mutations in the gene encoding merlin (NF2; <a href="/entry/607379">607379</a>) on chromosome 22q12 have also been found in tumor tissues of a subset of patients with meningiomas without other features of neurofibromatosis-2 (<a href="/entry/101000">101000</a>).</p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<a id="description" class="mim-anchor"></a>
|
|
<h4 href="#mimDescriptionFold" id="mimDescriptionToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
|
<span id="mimDescriptionToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
|
<span class="mim-font">
|
|
<strong>Description</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<div id="mimDescriptionFold" class="collapse in ">
|
|
<span class="mim-text-font">
|
|
<p>Meningiomas are, in general, slowly growing benign tumors derived from the arachnoidal cap cells of the leptomeninges, the soft coverings of the brain and spinal cord. Meningiomas are believed to be the most common primary tumors of the central nervous system in man. The vast majority of meningiomas are sporadic; familial occurrence of meningioma is rare (<a href="#58" class="mim-tip-reference" title="Zang, K. D. <strong>Meningioma: a cytogenetic model of a complex benign human tumor, including data on 394 karyotyped cases.</strong> Cytogenet. Cell Genet. 93: 207-220, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11528114/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11528114</a>] [<a href="https://doi.org/10.1159/000056986" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11528114">Zang, 2001</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11528114" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>Familial or multiple meningiomas may also be seen in tumor predisposition syndromes. Some patients with schwannomatosis (<a href="/entry/162091">162091</a>), caused by mutation in the SMARCB1 gene, may develop meningiomas. One patient with malignant gliomas (GLM2; <a href="/entry/613028">613028</a>) associated with a mutation in the PTEN gene (<a href="/entry/601728">601728</a>) developed a meningioma (<a href="#51" class="mim-tip-reference" title="Staal, F. J. T., van der Luijt, R. B., Baert, M. R. M., van Drunen, J., van Bakel, H., Peters, E., de Valk, I., van Amstel, H. K. P., Taphoorn, M. J. B., Jansen, G. H., van Veelen, C. W. M., Burgering, B., Staal, G. E. J. <strong>A novel germline mutation of PTEN associated with brain tumours of multiple lineages.</strong> Brit. J. Cancer 86: 1586-1591, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12085208/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12085208</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12085208[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/sj.bjc.6600206" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12085208">Staal et al., 2002</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12085208" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<a id="clinicalFeatures" class="mim-anchor"></a>
|
|
<h4 href="#mimClinicalFeaturesFold" id="mimClinicalFeaturesToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
|
<span id="mimClinicalFeaturesToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
|
<span class="mim-font">
|
|
<strong>Clinical Features</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<div id="mimClinicalFeaturesFold" class="collapse in mimTextToggleFold">
|
|
<span class="mim-text-font">
|
|
<p><a href="#1" class="mim-tip-reference" title="Aavikko, M., Li, S.-P., Saarinen, S., Alhopuro, P., Kaasinen, E., Morgunova, E., Li, Y., Vesanen, K., Smith, M. J., Evans, D. G. R., Poyhonen, M., Kiuru, A., Auvinen, A., Aaltonen, L. A., Taipale, J., Vahteristo, P. <strong>Loss of SUFU function in familial multiple meningioma.</strong> Am. J. Hum. Genet. 91: 520-526, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22958902/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22958902</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22958902[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2012.07.015" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22958902">Aavikko et al. (2012)</a> reported a Finnish family in which 5 sibs had adult-onset meningiomas between the ages of 43 and 72 years. Four of the 5 had multiple tumors. Germline and somatic alterations of the NF2 gene were excluded in these patients. No mutation carriers had medulloblastoma. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22958902" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#50" class="mim-tip-reference" title="Smith, M. J., O'Sullivan, J., Bhaskar, S. S., Hadfield, K. D., Poke, G., Caird, J., Sharif, S., Eccles, D., Fitzpatrick, D., Rawluk, D., du Plessis, D., Newman, W. G., Evans, D. G. <strong>Loss-of-function mutations in SMARCE1 cause an inherited disorder of multiple spinal meningiomas.</strong> Nature Genet. 45: 295-298, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23377182/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23377182</a>] [<a href="https://doi.org/10.1038/ng.2552" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23377182">Smith et al. (2013)</a> reported 6 patients from 4 unrelated families with spinal meningiomas. The age at onset was between 15 and 30 years, and 5 of the patients were female. Three of the woman developed the tumors during pregnancy, suggesting a hormonal influence on penetrance. All tumors showed a clear-cell histology. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23377182" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<a id="inheritance" class="mim-anchor"></a>
|
|
<h4 href="#mimInheritanceFold" id="mimInheritanceToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
|
<span id="mimInheritanceToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
|
<span class="mim-font">
|
|
<strong>Inheritance</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<div id="mimInheritanceFold" class="collapse in mimTextToggleFold">
|
|
<span class="mim-text-font">
|
|
<p><a href="#46" class="mim-tip-reference" title="Sedzimir, C. B., Frazer, A. K., Roberts, J. R. <strong>Cranial and spinal meningiomas in a pair of identical twin boys.</strong> J. Neurol. Neurosurg. Psychiat. 36: 368-376, 1973.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4714099/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4714099</a>] [<a href="https://doi.org/10.1136/jnnp.36.3.368" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4714099">Sedzimir et al. (1973)</a> reported monozygotic twins with meningioma. <a href="#33" class="mim-tip-reference" title="Memon, M. Y. <strong>Multiple and familial meningiomas without evidence of neurofibromatosis.</strong> Neurosurgery 7: 262-264, 1980.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6782502/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6782502</a>] [<a href="https://doi.org/10.1227/00006123-198009000-00010" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6782502">Memon (1980)</a> reported a 63-year-old woman with multiple meningiomas who had a son with a histologically similar tumor, and <a href="#35" class="mim-tip-reference" title="Pamphlett, R., Mackenzie, R. A. <strong>Familial occurrence of meningioma: a case report.</strong> Clin. Exp. Neurol. 18: 169-173, 1981.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6926386/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6926386</a>]" pmid="6926386">Pamphlett and Mackenzie (1981)</a> reported a father and daughter with meningioma. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=6926386+4714099+6782502" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#55" class="mim-tip-reference" title="Yamanaka, C., Fujioka, Y., Okada, Y., Harada, K., Uozumi, T. <strong>[Meningioma and acoustic neurinoma occurring in two siblings of two different families.]</strong> No To Shinkei 36: 957-968, 1984.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6518127/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6518127</a>]" pmid="6518127">Yamanaka et al. (1984)</a> reported 2 families in which 1 sib had meningioma and a second sib had schwannoma. <a href="#4" class="mim-tip-reference" title="Bolger, G. B., Stamberg, J., Kirsch, I. R., Hollis, G. F., Schwarz, D. F., Thomas, G. H. <strong>Chromosome translocation t(14;22) and oncogene (c-sis) variant in a pedigree with familial meningioma.</strong> New Eng. J. Med. 312: 564-567, 1985.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3969118/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3969118</a>] [<a href="https://doi.org/10.1056/NEJM198502283120907" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3969118">Bolger et al. (1985)</a> described a family in which a father and 3 of his 8 children had meningioma with clinical onset at ages ranging from 35 to 65 years. A fourth offspring died of multiple neoplasms arising at age 29 years. <a href="#16" class="mim-tip-reference" title="Ferrante, L., Acqui, M., Mastronardi, L., Nucci, F. <strong>Familial meningiomas. Report of two cases.</strong> J. Neurosurg. Sci. 31: 145-151, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3329680/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3329680</a>]" pmid="3329680">Ferrante et al. (1987)</a> reported 2 sisters and <a href="#31" class="mim-tip-reference" title="McDowell, J. R. <strong>Familial meningioma.</strong> Neurology 40: 312-314, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2300254/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2300254</a>] [<a href="https://doi.org/10.1212/wnl.40.2.312" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2300254">McDowell (1990)</a> reported a mother and 3 daughters with the disease. <a href="#48" class="mim-tip-reference" title="Sieb, J. P., Pulst, S.-M., Buch, A. <strong>Familial CNS tumors.</strong> J. Neurol. 239: 343-344, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1512611/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1512611</a>] [<a href="https://doi.org/10.1007/BF00867592" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1512611">Sieb et al. (1992)</a> described a family with 4 individuals in 2 generations with meningioma, and suggested autosomal dominant inheritance with high penetrance. <a href="#30" class="mim-tip-reference" title="Maxwell, M., Shih, S. D., Galanopoulos, T., Hedley-Whyte, E. T., Cosgrove, G. R. <strong>Familial meningioma: analysis of expression of neurofibromatosis 2 protein merlin: report of two cases.</strong> J. Neurosurg. 88: 562-569, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9488313/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9488313</a>] [<a href="https://doi.org/10.3171/jns.1998.88.3.0562" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9488313">Maxwell et al. (1998)</a> found only 14 reports (since 1959) of familial meningioma in isolation from NF2. They reported a family lacking any stigmata of NF2 in which the mother and a daughter and son had meningiomas. In the 2 offspring, the meningiomas were spinal. Also see <a href="#21" class="mim-tip-reference" title="Joynt, R. J., Perret, G. E. <strong>Meningiomas in a mother and daughter: cases without evidence of neurofibromatosis.</strong> Neurology 11: 164-165, 1961.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13790892/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13790892</a>] [<a href="https://doi.org/10.1212/wnl.11.2.164" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="13790892">Joynt and Perret (1961)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=6518127+13790892+1512611+9488313+3969118+2300254+3329680" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>The transmission pattern of meningioma in the family reported by <a href="#1" class="mim-tip-reference" title="Aavikko, M., Li, S.-P., Saarinen, S., Alhopuro, P., Kaasinen, E., Morgunova, E., Li, Y., Vesanen, K., Smith, M. J., Evans, D. G. R., Poyhonen, M., Kiuru, A., Auvinen, A., Aaltonen, L. A., Taipale, J., Vahteristo, P. <strong>Loss of SUFU function in familial multiple meningioma.</strong> Am. J. Hum. Genet. 91: 520-526, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22958902/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22958902</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22958902[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2012.07.015" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22958902">Aavikko et al. (2012)</a> was consistent with autosomal dominant inheritance. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22958902" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Association with Neurofibromatosis Type II</em></strong></p><p>
|
|
Patients with neurofibromatosis type II (NF2; <a href="/entry/101000">101000</a>) are predisposed to a variety of central nervous system tumors, including vestibular schwannomas and meningiomas. Accordingly, multiple and familial occurrences of meningiomas have usually been reported in cases of NF2 (<a href="#10" class="mim-tip-reference" title="Cogen, P. H., Daneshvar, L., Bowcock, A. M., Metzger, A. K., Cavalli-Sforza, L. L. <strong>Loss of heterozygosity for chromosome 22 DNA sequences in human meningioma.</strong> Cancer Genet. Cytogenet. 53: 271-277, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1676608/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1676608</a>] [<a href="https://doi.org/10.1016/0165-4608(91)90104-3" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1676608">Cogen et al., 1991</a>; <a href="#28" class="mim-tip-reference" title="MacCollin, M. <strong>Neurofibromatosis 2: clinical aspects. In: Friedman, J. M.; Gutmann, D. H.; MacCollin, M.; Riccardi, V. M. (eds.): Neurofibromatosis: phenotype, natural history, and pathogenesis.</strong> Baltimore: Johns Hopkins Univ. Press 1999. Pp. 299-326."None>MacCollin, 1999</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1676608" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#11" class="mim-tip-reference" title="Delleman, J. W., De Jong, J. G. Y., Bleeker, G. M. <strong>Meningiomas in five members of a family over two generations, in one member simultaneously with acoustic neurinomas.</strong> Neurology 28: 567-570, 1978.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/418361/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">418361</a>] [<a href="https://doi.org/10.1212/wnl.28.6.567" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="418361">Delleman et al. (1978)</a> observed meningioma in 5 members of 2 generations, with male-to-male transmission. One of the 5 had schwannoma, or acoustic neuroma. A member of the second generation, not available for examination, was said to have multiple cafe-au-lait spots. The authors viewed the kindred as one of neurofibromatosis with wide variability. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=418361" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#30" class="mim-tip-reference" title="Maxwell, M., Shih, S. D., Galanopoulos, T., Hedley-Whyte, E. T., Cosgrove, G. R. <strong>Familial meningioma: analysis of expression of neurofibromatosis 2 protein merlin: report of two cases.</strong> J. Neurosurg. 88: 562-569, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9488313/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9488313</a>] [<a href="https://doi.org/10.3171/jns.1998.88.3.0562" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9488313">Maxwell et al. (1998)</a> stated that almost all cases of familial meningioma occur in association with NF2. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9488313" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<a id="cytogenetics" class="mim-anchor"></a>
|
|
<h4 href="#mimCytogeneticsFold" id="mimCytogeneticsToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
|
<span id="mimCytogeneticsToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
|
<span class="mim-font">
|
|
<strong>Cytogenetics</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<div id="mimCytogeneticsFold" class="collapse in mimTextToggleFold">
|
|
<span class="mim-text-font">
|
|
<p><a href="#4" class="mim-tip-reference" title="Bolger, G. B., Stamberg, J., Kirsch, I. R., Hollis, G. F., Schwarz, D. F., Thomas, G. H. <strong>Chromosome translocation t(14;22) and oncogene (c-sis) variant in a pedigree with familial meningioma.</strong> New Eng. J. Med. 312: 564-567, 1985.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3969118/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3969118</a>] [<a href="https://doi.org/10.1056/NEJM198502283120907" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3969118">Bolger et al. (1985)</a> found that 3 sibs with meningioma carried a constitutional Robertsonian 14;22 translocation, t(14;22)(14qter-cen;22qter), in circulating leukocytes. Three additional sibs from the same family without meningioma had a normal karyotype. However, in the next generation, 4 carriers of the translocation were asymptomatic, except for one with breast cancer. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3969118" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#2" class="mim-tip-reference" title="Arinami, T., Kondo, I., Hamaguchi, H., Nakajima, S. <strong>Multifocal meningiomas in a patient with a constitutional ring chromosome 22.</strong> J. Med. Genet. 23: 178-179, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3712397/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3712397</a>] [<a href="https://doi.org/10.1136/jmg.23.2.178" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3712397">Arinami et al. (1986)</a> described an institutionalized mentally retarded male with a constitutional ring chromosome 22 discovered during a cytogenetic survey. There appeared to be deletion of 22q13.3-qter. He died at age 27 and was found to have meningeal hypoplasia and dysplasia, including meningiomatosis and an unusual cyst containing meningocytic elements. Pressure of the cyst on the brainstem was thought to have caused death. <a href="#36" class="mim-tip-reference" title="Petrella, R., Levine, S., Wilmot, P. L., Ashar, K. D., Casamassima, A. C., Shapiro, L. R. <strong>Multiple meningiomas in a patient with constitutional ring chromosome 22.</strong> Am. J. Med. Genet. 47: 184-186, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8213904/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8213904</a>] [<a href="https://doi.org/10.1002/ajmg.1320470211" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8213904">Petrella et al. (1993)</a> described a patient with multiple congenital anomalies and ring chromosome 22 who died at age 16 years of bronchopneumonia and was found at autopsy to have multiple psammomatous meningiomas of the spinal dura and tentorium. They stated that this was only the third report of a constitutional chromosome 22 abnormality associated with the development of meningiomas and suggested that patients with the chromosomal abnormality may be predisposed to the development of meningiomas. However, they also noted that in a previous study of 21 patients with ring chromosome 22 (<a href="#20" class="mim-tip-reference" title="Hunter, A. G. W., Ray, M., Wang, H. S., Thompson, D. R. <strong>Phenotypic correlations in patients with ring chromosome 22.</strong> Clin. Genet. 12: 239-249, 1977.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/912941/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">912941</a>] [<a href="https://doi.org/10.1111/j.1399-0004.1977.tb00933.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="912941">Hunter et al., 1977</a>), none was reported to have meningiomas. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=912941+8213904+3712397" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Somatic Cytogenetic Abnormalities</em></strong></p><p>
|
|
The tumor tissue of sporadic meningiomas often shows absence of one chromosome 22 or, less frequently, absence of distal 22q (<a href="#56" class="mim-tip-reference" title="Zang, K. D., Singer, H. <strong>Chromosomal constitution of meningiomas.</strong> Nature 216: 84-85, 1967.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6050684/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6050684</a>] [<a href="https://doi.org/10.1038/216084a0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6050684">Zang and Singer, 1967</a>; <a href="#42" class="mim-tip-reference" title="Sandberg, A. A. <strong>The Chromosomes in Human Cancer and Leukemia.</strong> New York: Elsevier (pub.) 1980. Pp. 535-543."None>Sandberg, 1980</a>; <a href="#57" class="mim-tip-reference" title="Zang, K. D. <strong>Cytological and cytogenetical studies on human meningioma.</strong> Cancer Genet. Cytogenet. 6: 249-274, 1982.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6288229/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6288229</a>] [<a href="https://doi.org/10.1016/0165-4608(82)90063-2" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6288229">Zang, 1982</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=6050684+6288229" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#7" class="mim-tip-reference" title="Casalone, R., Granata, P., Simi, P., Tarantino, E., Butti, G., Buonaguidi, R., Faggionato, F., Knerich, R., Solero, L. <strong>Recessive cancer genes in meningiomas? An analysis of 31 cases.</strong> Cancer Genet. Cytogenet. 27: 145-159, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3472644/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3472644</a>] [<a href="https://doi.org/10.1016/0165-4608(87)90269-x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3472644">Casalone et al. (1987)</a> confirmed the high frequency of abnormalities involving chromosome 22 in studies of 31 cases of meningiomas. They suggested that bands 22q11-q12 are critical. <a href="#47" class="mim-tip-reference" title="Seizinger, B. R., de la Monte, S., Atkins, L., Gusella, J. F., Martuza, R. L. <strong>Molecular genetic approach to human meningioma: loss of genes on chromosome 22.</strong> Proc. Nat. Acad. Sci. 84: 5419-5423, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3037550/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3037550</a>] [<a href="https://doi.org/10.1073/pnas.84.15.5419" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3037550">Seizinger et al. (1987)</a> contributed to the evidence that chromosome 22 is involved in meningioma. In 17 of 40 constitutionally heterozygous patients (43%), hemizygosity for the corresponding DNA marker was found in their tumors. <a href="#32" class="mim-tip-reference" title="Meese, E., Blin, N., Zang, K. D. <strong>Loss of heterozygosity and the origin of meningioma.</strong> Hum. Genet. 77: 349-351, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2891603/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2891603</a>] [<a href="https://doi.org/10.1007/BF00291425" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2891603">Meese et al. (1987)</a> did similar studies; 3 of 12 patients showed loss of heterozygosity (LOH) of markers on chromosome 22. Using DNA markers, <a href="#34" class="mim-tip-reference" title="Okazaki, M., Nishisho, I., Tateishi, H., Motomura, K., Yamamoto, M., Miki, T., Hayakawa, T., Takai, S., Honjo, T., Mori, T. <strong>Loss of genes on the long arm of chromosome 22 in human meningiomas.</strong> Molec. Biol. Med. 5: 15-22, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2897611/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2897611</a>]" pmid="2897611">Okazaki et al. (1988)</a> found loss of constitutional heterozygosity in 3 of 11 informative cases of meningioma. <a href="#29" class="mim-tip-reference" title="Maltby, E. L., Ironside, J. W., Battersby, R. D. E. <strong>Cytogenetic studies in 50 meningiomas.</strong> Cancer Genet. Cytogenet. 31: 199-210, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3162394/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3162394</a>] [<a href="https://doi.org/10.1016/0165-4608(88)90218-x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3162394">Maltby et al. (1988)</a> studied the chromosomes from 50 meningiomas. Twenty-three of these tissue specimens had a normal diploid karyotype. Twenty-five had monosomy for chromosome 22, with or without a normal diploid line and/or additional aneuploidy. Cell lines monosomic for chromosome 22 also frequently had random chromosome loss. <a href="#26" class="mim-tip-reference" title="Lekanne Deprez, R. H., Riegman, P. H., van Drunen, E., Warringa, U. L., Groen, N. A., Stefanko, S. Z., Koper, J. W., Avezaat, C. J. J., Mulder, P. G. H., Zwarthoff, E. C., Hagemeijer, A. <strong>Cytogenetic, molecular genetic and pathological analyses in 126 meningiomas.</strong> J. Neuropath. Exp. Neurol. 54: 224-235, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7876890/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7876890</a>] [<a href="https://doi.org/10.1097/00005072-199503000-00009" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7876890">Lekanne Deprez et al. (1995)</a> found partial or complete loss of chromosome 22 in 66 of 93 meningiomas. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=3472644+3037550+7876890+3162394+2897611+2891603" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#13" class="mim-tip-reference" title="Dumanski, J. P., Carlbom, E., Collins, V. P., Nordenskjold, M. <strong>Deletion mapping of a locus on human chromosome 22 involved in the oncogenesis of meningioma.</strong> Proc. Nat. Acad. Sci. 84: 9275-9279, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2892198/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2892198</a>] [<a href="https://doi.org/10.1073/pnas.84.24.9275" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2892198">Dumanski et al. (1987)</a> studied LOH for chromosome 22 loci in tumor and normal tissue from 35 unrelated patients. Sixteen tumors retained the constitutional genotype along chromosome 22, while 14 tumors (40%) showed loss of 1 constitutional allele at all informative loci, consistent with monosomy 22 in the tumor DNA. The remaining 5 tumors (14%) showed LOH in the tumor DNA at 1 or more chromosome 22 loci and retained heterozygosity at other loci, consistent with other variable terminal deletions of 1 chromosome 22 in the tumor DNA. The results in these cases suggested that a meningioma locus is located distal to the myoglobin locus, within 22q12.3-qter. Multiple loci on other chromosomes also were studied, and 12 of the 19 tumors with losses of chromosome 22 alleles showed additional losses of heterozygosity at loci on 1 to 3 other chromosomes. All tumors that retained the constitutional genotype on chromosome 22 also retained heterozygosity on all informative loci on other chromosomes analyzed, suggesting that the rearrangement of chromosome 22 was the primary event in the tumorigenesis of meningioma. In a larger series that incorporated the earlier one, <a href="#14" class="mim-tip-reference" title="Dumanski, J. P., Rouleau, G. A., Nordenskjold, M., Collins, V. P. <strong>Molecular genetic analysis of chromosome 22 in 81 cases of meningioma.</strong> Cancer Res. 50: 5863-5867, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2393856/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2393856</a>]" pmid="2393856">Dumanski et al. (1990)</a> compared constitutional and tumor tissue genotypes from 81 unrelated patients with meningioma, studying 25 polymorphic loci on chromosome 22. In 30 tumors (37%) constitutional genotype was retained, consistent with no detectable aberrations on chromosome 22. In 42 tumors (52%) there was loss of 1 allele at all informative loci, consistent with monosomy 22 in the tumor DNA. The remaining 9 tumors (11%) retained constitutional heterozygosity in the tumor DNA at 1 or more centromeric loci and showed a loss of heterozygosity at other telomeric loci, consistent with variable terminal deletions of 1 chromosome 22q in the tumor DNA. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=2892198+2393856" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#17" class="mim-tip-reference" title="Fontaine, B., Rouleau, G. A., Seizinger, B., Jewell, A. F., Hanson, M. P., Martuza, R. L., Gusella, J. F. <strong>Equal parental origin of chromosome 22 losses in human sporadic meningioma: no evidence for genomic imprinting.</strong> Am. J. Hum. Genet. 47: 823-827, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2220822/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2220822</a>]" pmid="2220822">Fontaine et al. (1990)</a> found that LOH in sporadic meningiomas involved the maternally derived chromosome 22 in 5 tumors and the paternally derived chromosome 22 in 4. Thus, in contrast to embryonal tumors (retinoblastoma and Wilms tumor), imprinting is apparently not a factor. <a href="#43" class="mim-tip-reference" title="Sanson, M., Delattre, O., Couturier, J., Philippon, J., Cophignon, J., Derome, P., Rouleau, G. A., Thomas, G. <strong>Parental origin of chromosome 22 alleles lost in meningioma. (Letter)</strong> Am. J. Hum. Genet. 47: 877-880, 1990. Note: Erratum: Am. J. Hum. Genet. 48: 176 only, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1977313/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1977313</a>]" pmid="1977313">Sanson et al. (1990)</a> also found both maternal and paternal origin of the lost chromosome 22 in meningioma. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=2220822+1977313" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#58" class="mim-tip-reference" title="Zang, K. D. <strong>Meningioma: a cytogenetic model of a complex benign human tumor, including data on 394 karyotyped cases.</strong> Cytogenet. Cell Genet. 93: 207-220, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11528114/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11528114</a>] [<a href="https://doi.org/10.1159/000056986" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11528114">Zang (2001)</a> karyotyped 394 meningiomas and reported the significant findings: 177 were diploid, 115 showed monosomy 22, 35 had monosomy 22 and loss of 1 to 5 additional chromosomes (-14, -18, -19, -10, -6), 49 had loss of 1p in addition to loss of 22 and other chromosomal loss, and 9 had only loss of 1p. The authors noted that increasing hypodiploidy was correlated with atypical or anaplastic tumor histology and that loss of 1p was associated with a more aggressive biologic course. <a href="#58" class="mim-tip-reference" title="Zang, K. D. <strong>Meningioma: a cytogenetic model of a complex benign human tumor, including data on 394 karyotyped cases.</strong> Cytogenet. Cell Genet. 93: 207-220, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11528114/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11528114</a>] [<a href="https://doi.org/10.1159/000056986" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11528114">Zang (2001)</a> proposed several schemata of stepwise mechanisms in the development and progression of meningiomas. Noting a correlation between losses in 1p and reductions in the amount and activity of alkaline phosphatase (ALPL; <a href="/entry/171760">171760</a>), <a href="#58" class="mim-tip-reference" title="Zang, K. D. <strong>Meningioma: a cytogenetic model of a complex benign human tumor, including data on 394 karyotyped cases.</strong> Cytogenet. Cell Genet. 93: 207-220, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11528114/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11528114</a>] [<a href="https://doi.org/10.1159/000056986" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11528114">Zang (2001)</a> suggested that ALPL may be the involved gene on chromosome 1. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11528114" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<a id="mapping" class="mim-anchor"></a>
|
|
<h4 href="#mimMappingFold" id="mimMappingToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
|
<span id="mimMappingToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
|
<span class="mim-font">
|
|
<strong>Mapping</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<div id="mimMappingFold" class="collapse in mimTextToggleFold">
|
|
<span class="mim-text-font">
|
|
<p>By studies of tumor tissue, Dumanski et al. (<a href="#13" class="mim-tip-reference" title="Dumanski, J. P., Carlbom, E., Collins, V. P., Nordenskjold, M. <strong>Deletion mapping of a locus on human chromosome 22 involved in the oncogenesis of meningioma.</strong> Proc. Nat. Acad. Sci. 84: 9275-9279, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2892198/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2892198</a>] [<a href="https://doi.org/10.1073/pnas.84.24.9275" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2892198">1987</a>, <a href="#14" class="mim-tip-reference" title="Dumanski, J. P., Rouleau, G. A., Nordenskjold, M., Collins, V. P. <strong>Molecular genetic analysis of chromosome 22 in 81 cases of meningioma.</strong> Cancer Res. 50: 5863-5867, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2393856/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2393856</a>]" pmid="2393856">1990</a>) concluded that a meningioma locus is located distal to the myoglobin locus, within 22q12.3-qter. <a href="#14" class="mim-tip-reference" title="Dumanski, J. P., Rouleau, G. A., Nordenskjold, M., Collins, V. P. <strong>Molecular genetic analysis of chromosome 22 in 81 cases of meningioma.</strong> Cancer Res. 50: 5863-5867, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2393856/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2393856</a>]" pmid="2393856">Dumanski et al. (1990)</a> concluded that the meningioma locus is distinct from the NF2 locus (<a href="/entry/607174">607174</a>) inasmuch as they appear to be on opposite sides of the DNA marker D22S28. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=2892198+2393856" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#9" class="mim-tip-reference" title="Chung, R. Y., Seizinger, B. R. <strong>Molecular genetics of neurological tumours.</strong> J. Med. Genet. 29: 361-367, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1320124/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1320124</a>] [<a href="https://doi.org/10.1136/jmg.29.6.361" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1320124">Chung and Seizinger (1992)</a> stated that although similar deletions of chromosome 22 have been found in acoustic neuroma and meningioma, it remained unclear whether distinct genetic loci were involved. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1320124" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>Pulst et al. (<a href="#39" class="mim-tip-reference" title="Pulst, S.-M., Rouleau, G., Fain, P., Sieb, J. P. <strong>Familial meningioma is not allelic to neurofibromatosis 2. (Abstract)</strong> Am. J. Hum. Genet. 51 (suppl.): A106 only, 1992."None>1992</a>, <a href="#38" class="mim-tip-reference" title="Pulst, S.-M., Rouleau, G. A., Marineau, C., Fain, P., Sieb, J. P. <strong>Familial meningioma is not allelic to neurofibromatosis 2.</strong> Neurology 43: 2096-2098, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8413972/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8413972</a>] [<a href="https://doi.org/10.1212/wnl.43.10.2096" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8413972">1993</a>) presented linkage data suggesting that a meningioma locus is separate from the NF2 locus. They described multiple meningiomas and ependymomas in 2 generations of a family. Multipoint linkage analysis resulted in location scores less than -2 for a region of 15 cM, including the NF2 region. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8413972" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>By screening 8 of the 16 known NF2 exons in 151 sporadic meningiomas, <a href="#40" class="mim-tip-reference" title="Ruttledge, M. H., Sarrazin, J., Rangaratnam, S., Phelan, C. M., Twist, E., Merel, P., Delattre, O., Thomas, G., Nordenskjold, M., Collins, V. P., Dumanski, J. P., Rouleau, G. A. <strong>Evidence for the complete inactivation of the NF2 gene in the majority of sporadic meningiomas.</strong> Nature Genet. 6: 180-184, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8162072/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8162072</a>] [<a href="https://doi.org/10.1038/ng0294-180" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8162072">Ruttledge et al. (1994)</a> identified 24 inactivating mutations in the NF2 gene. Significantly, these aberrations were exclusively detected in tumors that lost the other chromosome 22 allele, suggesting that the suppressor gene on chromosome 22 is the NF2 gene. However, <a href="#40" class="mim-tip-reference" title="Ruttledge, M. H., Sarrazin, J., Rangaratnam, S., Phelan, C. M., Twist, E., Merel, P., Delattre, O., Thomas, G., Nordenskjold, M., Collins, V. P., Dumanski, J. P., Rouleau, G. A. <strong>Evidence for the complete inactivation of the NF2 gene in the majority of sporadic meningiomas.</strong> Nature Genet. 6: 180-184, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8162072/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8162072</a>] [<a href="https://doi.org/10.1038/ng0294-180" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8162072">Ruttledge et al. (1994)</a> suggested that another gene is involved in the development of about 40% of meningiomas. The same group found that 95% of fibroblastic meningiomas showed LOH on chromosome 22, whereas only one-third of tumors classified as meningothelial showed LOH on this autosome. Thus, variation in meningioma histology may reflect mutations at separate genetic loci. Tumors of purely fibroblastic histology may represent a genetic subgroup in which mutation of NF2 is a factor necessary for tumorigenesis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8162072" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In 2 affected offspring of an affected mother reported by <a href="#30" class="mim-tip-reference" title="Maxwell, M., Shih, S. D., Galanopoulos, T., Hedley-Whyte, E. T., Cosgrove, G. R. <strong>Familial meningioma: analysis of expression of neurofibromatosis 2 protein merlin: report of two cases.</strong> J. Neurosurg. 88: 562-569, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9488313/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9488313</a>] [<a href="https://doi.org/10.3171/jns.1998.88.3.0562" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9488313">Maxwell et al. (1998)</a>, immunocytochemical analysis for the NF2 protein product merlin showed that merlin was present in the tumor specimens from 2 affected offspring from an affected mother, implying that the NF2 tumor suppressor gene was not deleted in these tumors. The findings suggested that a second tumor suppressor gene locus, other than NF2, acts in the formation of familial 'sporadic' meningioma. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9488313" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#58" class="mim-tip-reference" title="Zang, K. D. <strong>Meningioma: a cytogenetic model of a complex benign human tumor, including data on 394 karyotyped cases.</strong> Cytogenet. Cell Genet. 93: 207-220, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11528114/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11528114</a>] [<a href="https://doi.org/10.1159/000056986" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11528114">Zang (2001)</a> suggested 'combined heterozygous loss' of NF2 and a second meningioma locus on chromosome 22 to explain the tumor suppressor gene mechanism. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11528114" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<a id="molecularGenetics" class="mim-anchor"></a>
|
|
<h4 href="#mimMolecularGeneticsFold" id="mimMolecularGeneticsToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
|
<span id="mimMolecularGeneticsToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
|
<span class="mim-font">
|
|
<strong>Molecular Genetics</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<div id="mimMolecularGeneticsFold" class="collapse in mimTextToggleFold">
|
|
<span class="mim-text-font">
|
|
<p><strong><em>Mutation in the SUFU Gene</em></strong></p><p>
|
|
In affected members of a Finnish family with multiple adult-onset meningiomas, <a href="#1" class="mim-tip-reference" title="Aavikko, M., Li, S.-P., Saarinen, S., Alhopuro, P., Kaasinen, E., Morgunova, E., Li, Y., Vesanen, K., Smith, M. J., Evans, D. G. R., Poyhonen, M., Kiuru, A., Auvinen, A., Aaltonen, L. A., Taipale, J., Vahteristo, P. <strong>Loss of SUFU function in familial multiple meningioma.</strong> Am. J. Hum. Genet. 91: 520-526, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22958902/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22958902</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22958902[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2012.07.015" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22958902">Aavikko et al. (2012)</a> identified a germline heterozygous mutation in the SUFU gene (R123C; <a href="/entry/607035#0007">607035.0007</a>). The mutation was identified by genomewide linkage analysis combined with exome sequencing. Tumor tissue from 7 meningiomas showed loss of heterozygosity at the SUFU locus, consistent with a 2-hit model for tumor suppressor genes. In vitro functional expression studies in human rhabdomyosarcoma cells showed that the R123C mutant protein had a significantly decreased ability to suppress GLI1 (<a href="/entry/165220">165220</a>) activity compared to wildtype SUFU, resulting in aberrant activation of the hedgehog signaling pathway. SUFU mutations were not identified in 162 additional Finnish patients with meningioma. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22958902" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>PDGFB Gene</em></strong></p><p>
|
|
<a href="#4" class="mim-tip-reference" title="Bolger, G. B., Stamberg, J., Kirsch, I. R., Hollis, G. F., Schwarz, D. F., Thomas, G. H. <strong>Chromosome translocation t(14;22) and oncogene (c-sis) variant in a pedigree with familial meningioma.</strong> New Eng. J. Med. 312: 564-567, 1985.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3969118/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3969118</a>] [<a href="https://doi.org/10.1056/NEJM198502283120907" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3969118">Bolger et al. (1985)</a> reported 2 living sibs with meningioma who were found to have a variant of the SIS oncogene (PDGFB; <a href="/entry/190040">190040</a>) on chromosome 22q12 in peripheral leukocyte DNA. Family studies showed that the SIS variant segregated with the normal chromosome 22. Later studies by <a href="#49" class="mim-tip-reference" title="Smidt, M., Kirsch, I., Ratner, L. <strong>Deletion of Alu sequences in the fifth c-sis intron in individuals with meningiomas.</strong> J. Clin. Invest. 86: 1151-1157, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2212004/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2212004</a>] [<a href="https://doi.org/10.1172/JCI114820" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2212004">Smidt et al. (1990)</a> showed that the affected members of the family reported by <a href="#4" class="mim-tip-reference" title="Bolger, G. B., Stamberg, J., Kirsch, I. R., Hollis, G. F., Schwarz, D. F., Thomas, G. H. <strong>Chromosome translocation t(14;22) and oncogene (c-sis) variant in a pedigree with familial meningioma.</strong> New Eng. J. Med. 312: 564-567, 1985.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3969118/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3969118</a>] [<a href="https://doi.org/10.1056/NEJM198502283120907" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3969118">Bolger et al. (1985)</a> had deletion of Alu sequences in the fifth intron of the SIS gene (<a href="/entry/190040#0001">190040.0001</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=2212004+3969118" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>MN1 Disruption</em></strong></p><p>
|
|
<a href="#25" class="mim-tip-reference" title="Lekanne Deprez, R. H., Riegman, P. H. J., Groen, N. A., Warringa, U. L., van Biezen, N. A., Molijn, A. C., Bootsma, D., de Jong, P. J., Menon, A. G., Kley, N. A., Seizinger, B. R., Zwarthoff, E. C. <strong>Cloning and characterization of MN1, a gene from chromosome 22q11, which is disrupted by a balanced translocation in a meningioma.</strong> Oncogene 10: 1521-1528, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7731706/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7731706</a>]" pmid="7731706">Lekanne Deprez et al. (1995)</a> used a balanced translocation involving chromosome 22 from a meningioma to isolate a gene they designated MN1 (<a href="/entry/156100">156100</a>) which was disrupted by the translocation. In the meningioma carrying this translocation, no expression of the MN1 mRNA was observed. The translocation in this case represented a germline change in a patient with multiple meningiomas (<a href="#24" class="mim-tip-reference" title="Lekanne Deprez, R. H., Groen, N. A., van Biezen, N. A., Hagemeijer, A., van Drunen, E., Koper, J. W., Avezaat, C. J. J., Bootsma, D., Zwarthoff, E. C. <strong>A t(4;22) in a meningioma points to the localization of a putative tumor-suppressor gene.</strong> Am. J. Hum. Genet. 48: 783-790, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2014801/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2014801</a>]" pmid="2014801">Lekanne Deprez et al., 1991</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7731706+2014801" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>SMARCB1 Gene</em></strong></p><p>
|
|
<a href="#3" class="mim-tip-reference" title="Bacci, C., Sestini, R., Provenzano, A., Paganini, I., Mancini, I., Porfirio, B., Vivarelli, R., Genuardi, M., Papi, L. <strong>Schwannomatosis associated with multiple meningiomas due to a familial SMARCB1 mutation.</strong> Neurogenetics 11: 73-80, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19582488/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19582488</a>] [<a href="https://doi.org/10.1007/s10048-009-0204-2" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19582488">Bacci et al. (2010)</a> reported a family in which affected individuals had multiple schwannomas and meningiomas associated with a heterozygous mutation in the SMARCB1 gene (E31V; <a href="/entry/601607#0010">601607.0010</a>). <a href="#3" class="mim-tip-reference" title="Bacci, C., Sestini, R., Provenzano, A., Paganini, I., Mancini, I., Porfirio, B., Vivarelli, R., Genuardi, M., Papi, L. <strong>Schwannomatosis associated with multiple meningiomas due to a familial SMARCB1 mutation.</strong> Neurogenetics 11: 73-80, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19582488/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19582488</a>] [<a href="https://doi.org/10.1007/s10048-009-0204-2" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19582488">Bacci et al. (2010)</a> noted that meningiomas are not frequently found in patients with schwannomatosis (<a href="/entry/162091">162091</a>), but should be considered part of the phenotype. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19582488" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#8" class="mim-tip-reference" title="Christiaans, I., Kenter, S. B., Brink, H. C., van Os, T. A. M., Baas, F., van den Munckhof, P., Kidd, A. M. J., Hulsebos, T. J. M. <strong>Germline SMARCB1 mutation and somatic NF2 mutations in familial multiple meningiomas.</strong> J. Med. Genet. 48: 93-97, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20930055/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20930055</a>] [<a href="https://doi.org/10.1136/jmg.2010.082420" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20930055">Christiaans et al. (2011)</a> reported a family in which 5 individuals developed meningiomas, 2 of whom also developed schwannomas. All patients carried a heterozygous mutation in the SMARCB1 gene (P48L; <a href="/entry/601607#0011">601607.0011</a>), and meningioma tumors showed loss of the wildtype allele, consistent with the 2-hit hypothesis of tumorigenesis. Meningiomas developed between ages 34 and 56 years, both in the cranium as extra-axial lesions and in the spinal cord as extramedullary lesions. In addition, 1 patient developed multiple chest wall and spinal schwannomas and another developed a single vestibular schwannoma. Two different meningioma tumors from the same patient also carried 2 different heterozygous somatic mutations in the NF2 gene (<a href="/entry/607379">607379</a>) as well as loss of heterozygosity at the NF2 locus. <a href="#8" class="mim-tip-reference" title="Christiaans, I., Kenter, S. B., Brink, H. C., van Os, T. A. M., Baas, F., van den Munckhof, P., Kidd, A. M. J., Hulsebos, T. J. M. <strong>Germline SMARCB1 mutation and somatic NF2 mutations in familial multiple meningiomas.</strong> J. Med. Genet. 48: 93-97, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20930055/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20930055</a>] [<a href="https://doi.org/10.1136/jmg.2010.082420" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20930055">Christiaans et al. (2011)</a> concluded that the SMARCB1 mutation predisposed the carriers to the development of meningiomas. The mutation may also have predisposed carriers to schwannomas, implying that meningiomas may be part of the schwannomatosis tumor spectrum, as suggested by <a href="#3" class="mim-tip-reference" title="Bacci, C., Sestini, R., Provenzano, A., Paganini, I., Mancini, I., Porfirio, B., Vivarelli, R., Genuardi, M., Papi, L. <strong>Schwannomatosis associated with multiple meningiomas due to a familial SMARCB1 mutation.</strong> Neurogenetics 11: 73-80, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19582488/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19582488</a>] [<a href="https://doi.org/10.1007/s10048-009-0204-2" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19582488">Bacci et al. (2010)</a>, but the schwannomas may also be coincidental findings. The role of the NF2 mutations was uncertain, but may contribute to a 4-hit hypothesis involving 2 genes. <a href="#53" class="mim-tip-reference" title="van den Munckhof, P., Christiaans, I., Kenter, S. B., Baas, F., Hulsebos, T. J. M. <strong>Germline SMARCB1 mutation predisposes to multiple meningiomas and schwannomas with preferential location of cranial meningiomas at the falx cerebri.</strong> Neurogenetics 13: 1-7, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22038540/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22038540</a>] [<a href="https://doi.org/10.1007/s10048-011-0300-y" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22038540">Van den Munckhof et al. (2012)</a> provided further studies of the family reported by <a href="#8" class="mim-tip-reference" title="Christiaans, I., Kenter, S. B., Brink, H. C., van Os, T. A. M., Baas, F., van den Munckhof, P., Kidd, A. M. J., Hulsebos, T. J. M. <strong>Germline SMARCB1 mutation and somatic NF2 mutations in familial multiple meningiomas.</strong> J. Med. Genet. 48: 93-97, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20930055/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20930055</a>] [<a href="https://doi.org/10.1136/jmg.2010.082420" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20930055">Christiaans et al. (2011)</a>. Reexamination of tumor tissue from 4 meningiomas and 2 schwannomas showed that all tumors had LOH for both SMARCB1 and NF2, consistent with a deletion of a segment of chromosome 22 containing these 2 genes. Three meningiomas and 2 schwannomas were each found to carry somatic mutations in the NF2 gene. Thus, the genetic changes found in the 2 tumor types were the same and characteristic for SMARCB1-mutation positive tumors: retention of the exon 2 mutation, acquisition of an NF2 mutation, and LOH of the wildtype allele of both genes. In addition, <a href="#53" class="mim-tip-reference" title="van den Munckhof, P., Christiaans, I., Kenter, S. B., Baas, F., Hulsebos, T. J. M. <strong>Germline SMARCB1 mutation predisposes to multiple meningiomas and schwannomas with preferential location of cranial meningiomas at the falx cerebri.</strong> Neurogenetics 13: 1-7, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22038540/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22038540</a>] [<a href="https://doi.org/10.1007/s10048-011-0300-y" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22038540">van den Munckhof et al. (2012)</a> identified 11 more carriers of the P48L mutation in this family. Eight of these 11 mutation carriers were found to carry 11 lesions suggestive of cranial meningioma and 6 spinal lesions consistent with meningiomas or schwannomas. Nine (82%) of the 11 cranial meningiomas were found in the falx cerebri. <a href="#53" class="mim-tip-reference" title="van den Munckhof, P., Christiaans, I., Kenter, S. B., Baas, F., Hulsebos, T. J. M. <strong>Germline SMARCB1 mutation predisposes to multiple meningiomas and schwannomas with preferential location of cranial meningiomas at the falx cerebri.</strong> Neurogenetics 13: 1-7, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22038540/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22038540</a>] [<a href="https://doi.org/10.1007/s10048-011-0300-y" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22038540">Van den Munckhof et al. (2012)</a> concluded that meningiomas should be included in the schwannomatosis tumor spectrum. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=20930055+19582488+22038540" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>SMARCE1 Gene</em></strong></p><p>
|
|
In 6 patients from 4 unrelated families with spinal meningiomas, <a href="#50" class="mim-tip-reference" title="Smith, M. J., O'Sullivan, J., Bhaskar, S. S., Hadfield, K. D., Poke, G., Caird, J., Sharif, S., Eccles, D., Fitzpatrick, D., Rawluk, D., du Plessis, D., Newman, W. G., Evans, D. G. <strong>Loss-of-function mutations in SMARCE1 cause an inherited disorder of multiple spinal meningiomas.</strong> Nature Genet. 45: 295-298, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23377182/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23377182</a>] [<a href="https://doi.org/10.1038/ng.2552" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23377182">Smith et al. (2013)</a> identified 4 different heterozygous loss-of-function mutations in the SMARCE1 gene (<a href="/entry/603111#0002">603111.0002</a>-<a href="/entry/603111#0005">603111.0005</a>). The first 2 mutations were identified by exome sequencing, and the second 2 were found by Sanger sequencing of the SMARCE1 gene in 6 additional patients with spinal meningiomas. One unaffected father was heterozygous for the mutation, indicating incomplete penetrance. All spinal tumors were clear-cell type, and all tumors studied showed loss of the SMARCE1 protein, consistent with a tumor suppressor mechanism. However, only 1 of 3 tumors analyzed showed loss of heterozygosity for wildtype SMARCE1. Sequencing SMARCE1 in 34 individuals with multiple cranial meningiomas did not identify any mutations, suggesting that the mutations are specific for spinal tumors. <a href="#50" class="mim-tip-reference" title="Smith, M. J., O'Sullivan, J., Bhaskar, S. S., Hadfield, K. D., Poke, G., Caird, J., Sharif, S., Eccles, D., Fitzpatrick, D., Rawluk, D., du Plessis, D., Newman, W. G., Evans, D. G. <strong>Loss-of-function mutations in SMARCE1 cause an inherited disorder of multiple spinal meningiomas.</strong> Nature Genet. 45: 295-298, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23377182/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23377182</a>] [<a href="https://doi.org/10.1038/ng.2552" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23377182">Smith et al. (2013)</a> postulated that loss of SMARCE1 activity may lead to the uncoupling of apoptotic control. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23377182" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Associations Pending Confirmation</em></strong></p><p>
|
|
<a href="#12" class="mim-tip-reference" title="Dobbins, S. E., Broderick, P., Melin, B., Feychting, M., Johansen, C., Andersson, U., Brannstrom, T., Schramm, J., Olver, B., Lloyd, A., Ma, Y. P., Hosking, F. J., and 15 others. <strong>Common variation at 10p12.31 near MLLT10 influences meningioma risk.</strong> Nature Genet. 43: 825-827, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21804547/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21804547</a>] [<a href="https://doi.org/10.1038/ng.879" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21804547">Dobbins et al. (2011)</a> performed a genomewide association study of 859 affected individuals with meningioma and 704 controls with validation in 2 independent sample sets totaling 774 cases and 1,764 controls. They identified a new susceptibility locus for meningioma at 10p12.31 in the MLLT10 gene (<a href="/entry/602409">602409</a>) at <a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs11012732;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs11012732</a> (odds ratio = 1.46, combined P value = 1.88 x 10(-14)). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21804547" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Somatic Mutations</em></strong></p><p>
|
|
In 8 of 70 sporadic meningiomas, <a href="#37" class="mim-tip-reference" title="Peyrard, M., Fransson, I., Xie, Y.-G., Han, F.-Y., Ruttledge, M. H., Swahn, S., Collins, J. E., Dunham, I., Collins, V. P., Dumanski, J. P. <strong>Characterization of a new member of the human beta-adaptin gene family from chromosome 22q12, a candidate meningioma gene.</strong> Hum. Molec. Genet. 3: 1393-1399, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7987321/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7987321</a>] [<a href="https://doi.org/10.1093/hmg/3.8.1393" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7987321">Peyrard et al. (1994)</a> found specific loss of expression of a beta-adaptin gene called BAM22 (<a href="/entry/600157">600157</a>). They reviewed the evidence suggesting that multiple genes on chromosome 22 are involved in the oncogenesis of meningioma and suggested that BAM22 may be second in importance to the NF2 (<a href="/entry/607379">607379</a>) gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7987321" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#54" class="mim-tip-reference" title="Wellenreuther, R., Kraus, J. A., Lenartz, D., Menon, A. G., Schramm, J., Louis, D. N., Ramesh, V., Gusella, J. F., Wiestler, O. D., von Deimling, A. <strong>Analysis of the neurofibromatosis 2 gene reveals molecular variants of meningioma.</strong> Am. J. Path. 146: 827-832, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7717450/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7717450</a>]" pmid="7717450">Wellenreuther et al. (1995)</a> suggested that the NF2 gene represents the meningioma locus on chromosome 22. The association of LOH on chromosome 22 with somatic mutations in the NF2 gene was significant. Somatic NF2 mutations occurred significantly more frequently in fibroblastic meningioma (70%) and transitional meningioma (83%) than in meningiothelial meningioma (25%), thus indicating a differential molecular pathogenesis of these meningioma variants. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7717450" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#45" class="mim-tip-reference" title="Schmitz, U., Mueller, W., Weber, M., Sevenet, N., Delattre, O., von Deimling, A. <strong>INI1 mutations in meningiomas at a potential hotspot in exon 9.</strong> Brit. J. Cancer 84: 199-201, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11161377/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11161377</a>] [<a href="https://doi.org/10.1054/bjoc.2000.1583" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11161377">Schmitz et al. (2001)</a> found the same somatic mutation (R377H) in exon 9 of the SMARCB1 gene in 4 of 126 meningiomas. The data indicated that SMARCB1 is a candidate tumor suppressor gene on chromosome 22 that may be important for the genesis of meningiomas. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11161377" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#15" class="mim-tip-reference" title="Eckstein, O., Stemmer-Rachamimov, A., Nunes, F., Hoch, D., Ojemann, R., MacCollin, M. <strong>Multiple meningiomas in brain and lung due to acquired mutation of the NF2 gene.</strong> Neurology 62: 1904-1905, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15159511/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15159511</a>] [<a href="https://doi.org/10.1212/01.wnl.0000125249.36445.cc" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15159511">Eckstein et al. (2004)</a> reported a 42-year-old man with a single meningioma that was resected. Over the next 15 years, he developed multiple recurrent meningiomas with the same histopathology in different areas of the brain, spinal cord, and lung. He had no clinical history of NF2 or vestibular schwannomas and no family history of meningioma. Genetic analysis of all tumor DNA identified a somatic 2-bp deletion in exon 1 of the NF2 gene, which was not present in the patient's blood. The second NF2 allele was lost in the tumors, consistent with the action of NF2 as a tumor suppressor gene. <a href="#15" class="mim-tip-reference" title="Eckstein, O., Stemmer-Rachamimov, A., Nunes, F., Hoch, D., Ojemann, R., MacCollin, M. <strong>Multiple meningiomas in brain and lung due to acquired mutation of the NF2 gene.</strong> Neurology 62: 1904-1905, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15159511/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15159511</a>] [<a href="https://doi.org/10.1212/01.wnl.0000125249.36445.cc" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15159511">Eckstein et al. (2004)</a> noted the unusual recurrence, long survival, and lack of histologic progression of the tumor over a long period of time and postulated that other genes may be involved. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15159511" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#5" class="mim-tip-reference" title="Brastianos, P. K., Horowitz, P. M., Santagata, S., Jones, R. T., McKenna, A., Getz, G., Ligon, K. L., Palescandolo, E., Van Hummelen, P., Ducar, M. D., Raza, A., Sunkavalli, A., MacConaill, L. E., Stemmer-Rachamimov, A. O., Louis, D. N., Hahn, W. C., Dunn, I. F., Beroukhim, R. <strong>Genomic sequencing of meningiomas identifies oncogenic SMO and AKT1 mutations.</strong> Nature Genet. 45: 285-289, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23334667/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23334667</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23334667[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ng.2526" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23334667">Brastianos et al. (2013)</a> performed whole-genome or whole-exome sequencing on 17 meningiomas and sequenced an additional 48 tumors to identify and validate somatic genetic alterations. Most meningiomas had simple genomes, with fewer mutations, rearrangements, and copy number alterations than reported in other tumors in adults. However, several meningiomas harbored more complex patterns of copy number changes and rearrangements, including 1 tumor with chromothripsis. <a href="#5" class="mim-tip-reference" title="Brastianos, P. K., Horowitz, P. M., Santagata, S., Jones, R. T., McKenna, A., Getz, G., Ligon, K. L., Palescandolo, E., Van Hummelen, P., Ducar, M. D., Raza, A., Sunkavalli, A., MacConaill, L. E., Stemmer-Rachamimov, A. O., Louis, D. N., Hahn, W. C., Dunn, I. F., Beroukhim, R. <strong>Genomic sequencing of meningiomas identifies oncogenic SMO and AKT1 mutations.</strong> Nature Genet. 45: 285-289, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23334667/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23334667</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23334667[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ng.2526" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23334667">Brastianos et al. (2013)</a> confirmed focal NF2 inactivation in 43% of tumors and found alterations in epigenetic modifiers in an additional 8% of tumors. A subset of meningiomas lacking NF2 alterations harbored recurrent oncogenic mutations in AKT1 (<a href="/entry/164730">164730</a>) (E17K) and SMO (<a href="/entry/601500">601500</a>) (W535L) and exhibited immunohistochemical evidence of activation of these pathways. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23334667" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<a id="seeAlso" class="mim-anchor"></a>
|
|
<h4 href="#mimSeeAlsoFold" id="mimSeeAlsoToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
|
<span class="mim-font">
|
|
<span id="mimSeeAlsoToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
|
<strong>See Also:</strong>
|
|
</span>
|
|
</h4>
|
|
<div id="mimSeeAlsoFold" class="collapse in mimTextToggleFold">
|
|
<span class="mim-text-font">
|
|
<a href="#Buijs1995" class="mim-tip-reference" title="Buijs, A., Sherr, S., van Baal, S., van Bezouw, S., van der Plas, D., Geurts van Kessel, A., Riegman, P., Lekanne Deprez, R., Zwarthoff, E., Hagemeijer, A., Grosveld, G. <strong>Translocation (12;22)(p13;q11) in myeloproliferative disorders results in fusion of the ETS-like TEL gene on 12q13 to the MN1 gene on 22q11.</strong> Oncogene 10: 1511-1519, 1995. Note: Erratum: Oncogene 11: 809 only, 1995.">Buijs et al. (1995)</a>; <a href="#Gaist1959" class="mim-tip-reference" title="Gaist, G., Piazza, G. <strong>Meningiomas in two members of the same family (with no evidence of neurofibromatosis).</strong> J. Neurosurg. 16: 110-113, 1959.">Gaist and Piazza (1959)</a>; <a href="#Hope1981" class="mim-tip-reference" title="Hope, D. G., Mulvihill, J. J. <strong>Malignancy in neurofibromatosis. In: Riccardi, V. M.; Mulvihill, J. J. (eds.): Neurofibromatosis (von Recklinghausen Disease).</strong> New York: Raven Press (pub.) 1981. Note: Alternate: Adv. Neurol. 29: 33-56, 1981.">Hope and Mulvihill
|
|
(1981)</a>; <a href="#Joynt1965" class="mim-tip-reference" title="Joynt, R. J., Perret, G. E. <strong>Familial meningiomas.</strong> J. Neurol. Neurosurg. Psychiat. 28: 163-164, 1965.">Joynt and Perret (1965)</a>; <a href="#Kinzler1993" class="mim-tip-reference" title="Kinzler, K. W., Vogelstein, B. <strong>A gene for neurofibromatosis 2.</strong> Nature 363: 495-496, 1993.">Kinzler and Vogelstein (1993)</a>; <a href="#Lele1963" class="mim-tip-reference" title="Lele, K. P., Penrose, L. S., Stallard, H. B. <strong>Chromosome deletion in a case of retinoblastoma.</strong> Ann. Hum. Genet. 27: 171-174, 1963.">Lele
|
|
et al. (1963)</a>; <a href="#Sahar1965" class="mim-tip-reference" title="Sahar, A. <strong>Familial occurrence of meningiomas: case report.</strong> J. Neurosurg. 23: 444-445, 1965.">Sahar (1965)</a>; <a href="#Sanson1993" class="mim-tip-reference" title="Sanson, M., Marineau, C., Desmaze, C., Lutchman, M., Ruttledge, M., Baron, C., Narod, S., Delattre, O., Lenoir, G., Thomas, G., Aurias, A., Rouleau, G. A. <strong>Germline deletion in a neurofibromatosis type 2 kindred inactivates the NF2 gene and a candidate meningioma locus.</strong> Hum. Molec. Genet. 2: 1215-1220, 1993.">Sanson et al. (1993)</a>; <a href="#Stallard1962" class="mim-tip-reference" title="Stallard, H. B. <strong>The conservative treatment of retinoblastoma.</strong> Trans. Ophthal. Soc. 82: 473-534, 1962.">Stallard (1962)</a>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<a id="references"class="mim-anchor"></a>
|
|
<h4 href="#mimReferencesFold" id="mimReferencesToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
|
<span class="mim-font">
|
|
<span id="mimReferencesToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
|
<strong>REFERENCES</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
<div id="mimReferencesFold" class="collapse in mimTextToggleFold">
|
|
<ol>
|
|
|
|
<li>
|
|
<a id="1" class="mim-anchor"></a>
|
|
<a id="Aavikko2012" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Aavikko, M., Li, S.-P., Saarinen, S., Alhopuro, P., Kaasinen, E., Morgunova, E., Li, Y., Vesanen, K., Smith, M. J., Evans, D. G. R., Poyhonen, M., Kiuru, A., Auvinen, A., Aaltonen, L. A., Taipale, J., Vahteristo, P.
|
|
<strong>Loss of SUFU function in familial multiple meningioma.</strong>
|
|
Am. J. Hum. Genet. 91: 520-526, 2012.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22958902/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22958902</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22958902[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22958902" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1016/j.ajhg.2012.07.015" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="2" class="mim-anchor"></a>
|
|
<a id="Arinami1986" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Arinami, T., Kondo, I., Hamaguchi, H., Nakajima, S.
|
|
<strong>Multifocal meningiomas in a patient with a constitutional ring chromosome 22.</strong>
|
|
J. Med. Genet. 23: 178-179, 1986.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3712397/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3712397</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3712397" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1136/jmg.23.2.178" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="3" class="mim-anchor"></a>
|
|
<a id="Bacci2010" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Bacci, C., Sestini, R., Provenzano, A., Paganini, I., Mancini, I., Porfirio, B., Vivarelli, R., Genuardi, M., Papi, L.
|
|
<strong>Schwannomatosis associated with multiple meningiomas due to a familial SMARCB1 mutation.</strong>
|
|
Neurogenetics 11: 73-80, 2010.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19582488/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19582488</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19582488" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1007/s10048-009-0204-2" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="4" class="mim-anchor"></a>
|
|
<a id="Bolger1985" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Bolger, G. B., Stamberg, J., Kirsch, I. R., Hollis, G. F., Schwarz, D. F., Thomas, G. H.
|
|
<strong>Chromosome translocation t(14;22) and oncogene (c-sis) variant in a pedigree with familial meningioma.</strong>
|
|
New Eng. J. Med. 312: 564-567, 1985.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3969118/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3969118</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3969118" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1056/NEJM198502283120907" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="5" class="mim-anchor"></a>
|
|
<a id="Brastianos2013" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Brastianos, P. K., Horowitz, P. M., Santagata, S., Jones, R. T., McKenna, A., Getz, G., Ligon, K. L., Palescandolo, E., Van Hummelen, P., Ducar, M. D., Raza, A., Sunkavalli, A., MacConaill, L. E., Stemmer-Rachamimov, A. O., Louis, D. N., Hahn, W. C., Dunn, I. F., Beroukhim, R.
|
|
<strong>Genomic sequencing of meningiomas identifies oncogenic SMO and AKT1 mutations.</strong>
|
|
Nature Genet. 45: 285-289, 2013.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23334667/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23334667</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23334667[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23334667" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1038/ng.2526" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="6" class="mim-anchor"></a>
|
|
<a id="Buijs1995" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Buijs, A., Sherr, S., van Baal, S., van Bezouw, S., van der Plas, D., Geurts van Kessel, A., Riegman, P., Lekanne Deprez, R., Zwarthoff, E., Hagemeijer, A., Grosveld, G.
|
|
<strong>Translocation (12;22)(p13;q11) in myeloproliferative disorders results in fusion of the ETS-like TEL gene on 12q13 to the MN1 gene on 22q11.</strong>
|
|
Oncogene 10: 1511-1519, 1995. Note: Erratum: Oncogene 11: 809 only, 1995.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7731705/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7731705</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7731705" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="7" class="mim-anchor"></a>
|
|
<a id="Casalone1987" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Casalone, R., Granata, P., Simi, P., Tarantino, E., Butti, G., Buonaguidi, R., Faggionato, F., Knerich, R., Solero, L.
|
|
<strong>Recessive cancer genes in meningiomas? An analysis of 31 cases.</strong>
|
|
Cancer Genet. Cytogenet. 27: 145-159, 1987.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3472644/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3472644</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3472644" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1016/0165-4608(87)90269-x" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="8" class="mim-anchor"></a>
|
|
<a id="Christiaans2011" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Christiaans, I., Kenter, S. B., Brink, H. C., van Os, T. A. M., Baas, F., van den Munckhof, P., Kidd, A. M. J., Hulsebos, T. J. M.
|
|
<strong>Germline SMARCB1 mutation and somatic NF2 mutations in familial multiple meningiomas.</strong>
|
|
J. Med. Genet. 48: 93-97, 2011.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20930055/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20930055</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20930055" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1136/jmg.2010.082420" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="9" class="mim-anchor"></a>
|
|
<a id="Chung1992" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Chung, R. Y., Seizinger, B. R.
|
|
<strong>Molecular genetics of neurological tumours.</strong>
|
|
J. Med. Genet. 29: 361-367, 1992.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1320124/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1320124</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1320124" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1136/jmg.29.6.361" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="10" class="mim-anchor"></a>
|
|
<a id="Cogen1991" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Cogen, P. H., Daneshvar, L., Bowcock, A. M., Metzger, A. K., Cavalli-Sforza, L. L.
|
|
<strong>Loss of heterozygosity for chromosome 22 DNA sequences in human meningioma.</strong>
|
|
Cancer Genet. Cytogenet. 53: 271-277, 1991.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1676608/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1676608</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1676608" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1016/0165-4608(91)90104-3" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="11" class="mim-anchor"></a>
|
|
<a id="Delleman1978" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Delleman, J. W., De Jong, J. G. Y., Bleeker, G. M.
|
|
<strong>Meningiomas in five members of a family over two generations, in one member simultaneously with acoustic neurinomas.</strong>
|
|
Neurology 28: 567-570, 1978.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/418361/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">418361</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=418361" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1212/wnl.28.6.567" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="12" class="mim-anchor"></a>
|
|
<a id="Dobbins2011" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Dobbins, S. E., Broderick, P., Melin, B., Feychting, M., Johansen, C., Andersson, U., Brannstrom, T., Schramm, J., Olver, B., Lloyd, A., Ma, Y. P., Hosking, F. J., and 15 others.
|
|
<strong>Common variation at 10p12.31 near MLLT10 influences meningioma risk.</strong>
|
|
Nature Genet. 43: 825-827, 2011.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21804547/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21804547</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21804547" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1038/ng.879" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="13" class="mim-anchor"></a>
|
|
<a id="Dumanski1987" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Dumanski, J. P., Carlbom, E., Collins, V. P., Nordenskjold, M.
|
|
<strong>Deletion mapping of a locus on human chromosome 22 involved in the oncogenesis of meningioma.</strong>
|
|
Proc. Nat. Acad. Sci. 84: 9275-9279, 1987.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2892198/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2892198</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2892198" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1073/pnas.84.24.9275" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="14" class="mim-anchor"></a>
|
|
<a id="Dumanski1990" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Dumanski, J. P., Rouleau, G. A., Nordenskjold, M., Collins, V. P.
|
|
<strong>Molecular genetic analysis of chromosome 22 in 81 cases of meningioma.</strong>
|
|
Cancer Res. 50: 5863-5867, 1990.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2393856/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2393856</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2393856" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="15" class="mim-anchor"></a>
|
|
<a id="Eckstein2004" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Eckstein, O., Stemmer-Rachamimov, A., Nunes, F., Hoch, D., Ojemann, R., MacCollin, M.
|
|
<strong>Multiple meningiomas in brain and lung due to acquired mutation of the NF2 gene.</strong>
|
|
Neurology 62: 1904-1905, 2004.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15159511/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15159511</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15159511" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1212/01.wnl.0000125249.36445.cc" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="16" class="mim-anchor"></a>
|
|
<a id="Ferrante1987" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Ferrante, L., Acqui, M., Mastronardi, L., Nucci, F.
|
|
<strong>Familial meningiomas. Report of two cases.</strong>
|
|
J. Neurosurg. Sci. 31: 145-151, 1987.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3329680/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3329680</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3329680" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="17" class="mim-anchor"></a>
|
|
<a id="Fontaine1990" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Fontaine, B., Rouleau, G. A., Seizinger, B., Jewell, A. F., Hanson, M. P., Martuza, R. L., Gusella, J. F.
|
|
<strong>Equal parental origin of chromosome 22 losses in human sporadic meningioma: no evidence for genomic imprinting.</strong>
|
|
Am. J. Hum. Genet. 47: 823-827, 1990.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2220822/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2220822</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2220822" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="18" class="mim-anchor"></a>
|
|
<a id="Gaist1959" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Gaist, G., Piazza, G.
|
|
<strong>Meningiomas in two members of the same family (with no evidence of neurofibromatosis).</strong>
|
|
J. Neurosurg. 16: 110-113, 1959.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13621270/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13621270</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=13621270" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.3171/jns.1959.16.1.0110" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="19" class="mim-anchor"></a>
|
|
<a id="Hope1981" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Hope, D. G., Mulvihill, J. J.
|
|
<strong>Malignancy in neurofibromatosis. In: Riccardi, V. M.; Mulvihill, J. J. (eds.): Neurofibromatosis (von Recklinghausen Disease).</strong>
|
|
New York: Raven Press (pub.) 1981. Note: Alternate: Adv. Neurol. 29: 33-56, 1981.
|
|
|
|
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="20" class="mim-anchor"></a>
|
|
<a id="Hunter1977" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Hunter, A. G. W., Ray, M., Wang, H. S., Thompson, D. R.
|
|
<strong>Phenotypic correlations in patients with ring chromosome 22.</strong>
|
|
Clin. Genet. 12: 239-249, 1977.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/912941/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">912941</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=912941" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1111/j.1399-0004.1977.tb00933.x" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="21" class="mim-anchor"></a>
|
|
<a id="Joynt1961" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Joynt, R. J., Perret, G. E.
|
|
<strong>Meningiomas in a mother and daughter: cases without evidence of neurofibromatosis.</strong>
|
|
Neurology 11: 164-165, 1961.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13790892/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13790892</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=13790892" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1212/wnl.11.2.164" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="22" class="mim-anchor"></a>
|
|
<a id="Joynt1965" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Joynt, R. J., Perret, G. E.
|
|
<strong>Familial meningiomas.</strong>
|
|
J. Neurol. Neurosurg. Psychiat. 28: 163-164, 1965.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14285655/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14285655</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14285655" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1136/jnnp.28.2.163" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="23" class="mim-anchor"></a>
|
|
<a id="Kinzler1993" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Kinzler, K. W., Vogelstein, B.
|
|
<strong>A gene for neurofibromatosis 2.</strong>
|
|
Nature 363: 495-496, 1993.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8505975/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8505975</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8505975" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1038/363495a0" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="24" class="mim-anchor"></a>
|
|
<a id="Lekanne Deprez1991" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Lekanne Deprez, R. H., Groen, N. A., van Biezen, N. A., Hagemeijer, A., van Drunen, E., Koper, J. W., Avezaat, C. J. J., Bootsma, D., Zwarthoff, E. C.
|
|
<strong>A t(4;22) in a meningioma points to the localization of a putative tumor-suppressor gene.</strong>
|
|
Am. J. Hum. Genet. 48: 783-790, 1991.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2014801/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2014801</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2014801" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="25" class="mim-anchor"></a>
|
|
<a id="Lekanne Deprez1995" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Lekanne Deprez, R. H., Riegman, P. H. J., Groen, N. A., Warringa, U. L., van Biezen, N. A., Molijn, A. C., Bootsma, D., de Jong, P. J., Menon, A. G., Kley, N. A., Seizinger, B. R., Zwarthoff, E. C.
|
|
<strong>Cloning and characterization of MN1, a gene from chromosome 22q11, which is disrupted by a balanced translocation in a meningioma.</strong>
|
|
Oncogene 10: 1521-1528, 1995.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7731706/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7731706</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7731706" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="26" class="mim-anchor"></a>
|
|
<a id="Lekanne Deprez1995" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Lekanne Deprez, R. H., Riegman, P. H., van Drunen, E., Warringa, U. L., Groen, N. A., Stefanko, S. Z., Koper, J. W., Avezaat, C. J. J., Mulder, P. G. H., Zwarthoff, E. C., Hagemeijer, A.
|
|
<strong>Cytogenetic, molecular genetic and pathological analyses in 126 meningiomas.</strong>
|
|
J. Neuropath. Exp. Neurol. 54: 224-235, 1995.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7876890/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7876890</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7876890" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1097/00005072-199503000-00009" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="27" class="mim-anchor"></a>
|
|
<a id="Lele1963" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Lele, K. P., Penrose, L. S., Stallard, H. B.
|
|
<strong>Chromosome deletion in a case of retinoblastoma.</strong>
|
|
Ann. Hum. Genet. 27: 171-174, 1963.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14081487/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14081487</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14081487" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1111/j.1469-1809.1963.tb00209.x" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="28" class="mim-anchor"></a>
|
|
<a id="MacCollin1999" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
MacCollin, M.
|
|
<strong>Neurofibromatosis 2: clinical aspects. In: Friedman, J. M.; Gutmann, D. H.; MacCollin, M.; Riccardi, V. M. (eds.): Neurofibromatosis: phenotype, natural history, and pathogenesis.</strong>
|
|
Baltimore: Johns Hopkins Univ. Press 1999. Pp. 299-326.
|
|
|
|
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="29" class="mim-anchor"></a>
|
|
<a id="Maltby1988" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Maltby, E. L., Ironside, J. W., Battersby, R. D. E.
|
|
<strong>Cytogenetic studies in 50 meningiomas.</strong>
|
|
Cancer Genet. Cytogenet. 31: 199-210, 1988.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3162394/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3162394</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3162394" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1016/0165-4608(88)90218-x" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="30" class="mim-anchor"></a>
|
|
<a id="Maxwell1998" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Maxwell, M., Shih, S. D., Galanopoulos, T., Hedley-Whyte, E. T., Cosgrove, G. R.
|
|
<strong>Familial meningioma: analysis of expression of neurofibromatosis 2 protein merlin: report of two cases.</strong>
|
|
J. Neurosurg. 88: 562-569, 1998.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9488313/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9488313</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9488313" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.3171/jns.1998.88.3.0562" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="31" class="mim-anchor"></a>
|
|
<a id="McDowell1990" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
McDowell, J. R.
|
|
<strong>Familial meningioma.</strong>
|
|
Neurology 40: 312-314, 1990.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2300254/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2300254</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2300254" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1212/wnl.40.2.312" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="32" class="mim-anchor"></a>
|
|
<a id="Meese1987" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Meese, E., Blin, N., Zang, K. D.
|
|
<strong>Loss of heterozygosity and the origin of meningioma.</strong>
|
|
Hum. Genet. 77: 349-351, 1987.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2891603/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2891603</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2891603" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1007/BF00291425" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="33" class="mim-anchor"></a>
|
|
<a id="Memon1980" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Memon, M. Y.
|
|
<strong>Multiple and familial meningiomas without evidence of neurofibromatosis.</strong>
|
|
Neurosurgery 7: 262-264, 1980.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6782502/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6782502</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6782502" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1227/00006123-198009000-00010" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="34" class="mim-anchor"></a>
|
|
<a id="Okazaki1988" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Okazaki, M., Nishisho, I., Tateishi, H., Motomura, K., Yamamoto, M., Miki, T., Hayakawa, T., Takai, S., Honjo, T., Mori, T.
|
|
<strong>Loss of genes on the long arm of chromosome 22 in human meningiomas.</strong>
|
|
Molec. Biol. Med. 5: 15-22, 1988.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2897611/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2897611</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2897611" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="35" class="mim-anchor"></a>
|
|
<a id="Pamphlett1981" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Pamphlett, R., Mackenzie, R. A.
|
|
<strong>Familial occurrence of meningioma: a case report.</strong>
|
|
Clin. Exp. Neurol. 18: 169-173, 1981.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6926386/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6926386</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6926386" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="36" class="mim-anchor"></a>
|
|
<a id="Petrella1993" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Petrella, R., Levine, S., Wilmot, P. L., Ashar, K. D., Casamassima, A. C., Shapiro, L. R.
|
|
<strong>Multiple meningiomas in a patient with constitutional ring chromosome 22.</strong>
|
|
Am. J. Med. Genet. 47: 184-186, 1993.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8213904/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8213904</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8213904" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1002/ajmg.1320470211" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="37" class="mim-anchor"></a>
|
|
<a id="Peyrard1994" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Peyrard, M., Fransson, I., Xie, Y.-G., Han, F.-Y., Ruttledge, M. H., Swahn, S., Collins, J. E., Dunham, I., Collins, V. P., Dumanski, J. P.
|
|
<strong>Characterization of a new member of the human beta-adaptin gene family from chromosome 22q12, a candidate meningioma gene.</strong>
|
|
Hum. Molec. Genet. 3: 1393-1399, 1994.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7987321/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7987321</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7987321" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1093/hmg/3.8.1393" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="38" class="mim-anchor"></a>
|
|
<a id="Pulst1993" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Pulst, S.-M., Rouleau, G. A., Marineau, C., Fain, P., Sieb, J. P.
|
|
<strong>Familial meningioma is not allelic to neurofibromatosis 2.</strong>
|
|
Neurology 43: 2096-2098, 1993.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8413972/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8413972</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8413972" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1212/wnl.43.10.2096" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="39" class="mim-anchor"></a>
|
|
<a id="Pulst1992" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Pulst, S.-M., Rouleau, G., Fain, P., Sieb, J. P.
|
|
<strong>Familial meningioma is not allelic to neurofibromatosis 2. (Abstract)</strong>
|
|
Am. J. Hum. Genet. 51 (suppl.): A106 only, 1992.
|
|
|
|
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="40" class="mim-anchor"></a>
|
|
<a id="Ruttledge1994" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Ruttledge, M. H., Sarrazin, J., Rangaratnam, S., Phelan, C. M., Twist, E., Merel, P., Delattre, O., Thomas, G., Nordenskjold, M., Collins, V. P., Dumanski, J. P., Rouleau, G. A.
|
|
<strong>Evidence for the complete inactivation of the NF2 gene in the majority of sporadic meningiomas.</strong>
|
|
Nature Genet. 6: 180-184, 1994.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8162072/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8162072</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8162072" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1038/ng0294-180" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="41" class="mim-anchor"></a>
|
|
<a id="Sahar1965" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Sahar, A.
|
|
<strong>Familial occurrence of meningiomas: case report.</strong>
|
|
J. Neurosurg. 23: 444-445, 1965.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5852402/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5852402</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5852402" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.3171/jns.1965.23.4.0444" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="42" class="mim-anchor"></a>
|
|
<a id="Sandberg1980" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Sandberg, A. A.
|
|
<strong>The Chromosomes in Human Cancer and Leukemia.</strong>
|
|
New York: Elsevier (pub.) 1980. Pp. 535-543.
|
|
|
|
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="43" class="mim-anchor"></a>
|
|
<a id="Sanson1990" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Sanson, M., Delattre, O., Couturier, J., Philippon, J., Cophignon, J., Derome, P., Rouleau, G. A., Thomas, G.
|
|
<strong>Parental origin of chromosome 22 alleles lost in meningioma. (Letter)</strong>
|
|
Am. J. Hum. Genet. 47: 877-880, 1990. Note: Erratum: Am. J. Hum. Genet. 48: 176 only, 1991.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1977313/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1977313</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1977313" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="44" class="mim-anchor"></a>
|
|
<a id="Sanson1993" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Sanson, M., Marineau, C., Desmaze, C., Lutchman, M., Ruttledge, M., Baron, C., Narod, S., Delattre, O., Lenoir, G., Thomas, G., Aurias, A., Rouleau, G. A.
|
|
<strong>Germline deletion in a neurofibromatosis type 2 kindred inactivates the NF2 gene and a candidate meningioma locus.</strong>
|
|
Hum. Molec. Genet. 2: 1215-1220, 1993.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8401504/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8401504</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8401504" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1093/hmg/2.8.1215" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="45" class="mim-anchor"></a>
|
|
<a id="Schmitz2001" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Schmitz, U., Mueller, W., Weber, M., Sevenet, N., Delattre, O., von Deimling, A.
|
|
<strong>INI1 mutations in meningiomas at a potential hotspot in exon 9.</strong>
|
|
Brit. J. Cancer 84: 199-201, 2001.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11161377/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11161377</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11161377" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1054/bjoc.2000.1583" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="46" class="mim-anchor"></a>
|
|
<a id="Sedzimir1973" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Sedzimir, C. B., Frazer, A. K., Roberts, J. R.
|
|
<strong>Cranial and spinal meningiomas in a pair of identical twin boys.</strong>
|
|
J. Neurol. Neurosurg. Psychiat. 36: 368-376, 1973.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4714099/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4714099</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4714099" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1136/jnnp.36.3.368" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="47" class="mim-anchor"></a>
|
|
<a id="Seizinger1987" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Seizinger, B. R., de la Monte, S., Atkins, L., Gusella, J. F., Martuza, R. L.
|
|
<strong>Molecular genetic approach to human meningioma: loss of genes on chromosome 22.</strong>
|
|
Proc. Nat. Acad. Sci. 84: 5419-5423, 1987.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3037550/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3037550</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3037550" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1073/pnas.84.15.5419" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="48" class="mim-anchor"></a>
|
|
<a id="Sieb1992" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Sieb, J. P., Pulst, S.-M., Buch, A.
|
|
<strong>Familial CNS tumors.</strong>
|
|
J. Neurol. 239: 343-344, 1992.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1512611/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1512611</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1512611" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1007/BF00867592" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="49" class="mim-anchor"></a>
|
|
<a id="Smidt1990" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Smidt, M., Kirsch, I., Ratner, L.
|
|
<strong>Deletion of Alu sequences in the fifth c-sis intron in individuals with meningiomas.</strong>
|
|
J. Clin. Invest. 86: 1151-1157, 1990.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2212004/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2212004</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2212004" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1172/JCI114820" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="50" class="mim-anchor"></a>
|
|
<a id="Smith2013" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Smith, M. J., O'Sullivan, J., Bhaskar, S. S., Hadfield, K. D., Poke, G., Caird, J., Sharif, S., Eccles, D., Fitzpatrick, D., Rawluk, D., du Plessis, D., Newman, W. G., Evans, D. G.
|
|
<strong>Loss-of-function mutations in SMARCE1 cause an inherited disorder of multiple spinal meningiomas.</strong>
|
|
Nature Genet. 45: 295-298, 2013.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23377182/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23377182</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23377182" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1038/ng.2552" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="51" class="mim-anchor"></a>
|
|
<a id="Staal2002" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Staal, F. J. T., van der Luijt, R. B., Baert, M. R. M., van Drunen, J., van Bakel, H., Peters, E., de Valk, I., van Amstel, H. K. P., Taphoorn, M. J. B., Jansen, G. H., van Veelen, C. W. M., Burgering, B., Staal, G. E. J.
|
|
<strong>A novel germline mutation of PTEN associated with brain tumours of multiple lineages.</strong>
|
|
Brit. J. Cancer 86: 1586-1591, 2002.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12085208/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12085208</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12085208[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12085208" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1038/sj.bjc.6600206" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="52" class="mim-anchor"></a>
|
|
<a id="Stallard1962" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Stallard, H. B.
|
|
<strong>The conservative treatment of retinoblastoma.</strong>
|
|
Trans. Ophthal. Soc. 82: 473-534, 1962.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13983306/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13983306</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=13983306" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="53" class="mim-anchor"></a>
|
|
<a id="van den Munckhof2012" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
van den Munckhof, P., Christiaans, I., Kenter, S. B., Baas, F., Hulsebos, T. J. M.
|
|
<strong>Germline SMARCB1 mutation predisposes to multiple meningiomas and schwannomas with preferential location of cranial meningiomas at the falx cerebri.</strong>
|
|
Neurogenetics 13: 1-7, 2012.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22038540/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22038540</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22038540" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1007/s10048-011-0300-y" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="54" class="mim-anchor"></a>
|
|
<a id="Wellenreuther1995" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Wellenreuther, R., Kraus, J. A., Lenartz, D., Menon, A. G., Schramm, J., Louis, D. N., Ramesh, V., Gusella, J. F., Wiestler, O. D., von Deimling, A.
|
|
<strong>Analysis of the neurofibromatosis 2 gene reveals molecular variants of meningioma.</strong>
|
|
Am. J. Path. 146: 827-832, 1995.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7717450/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7717450</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7717450" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="55" class="mim-anchor"></a>
|
|
<a id="Yamanaka1984" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Yamanaka, C., Fujioka, Y., Okada, Y., Harada, K., Uozumi, T.
|
|
<strong>[Meningioma and acoustic neurinoma occurring in two siblings of two different families.]</strong>
|
|
No To Shinkei 36: 957-968, 1984.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6518127/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6518127</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6518127" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="56" class="mim-anchor"></a>
|
|
<a id="Zang1967" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Zang, K. D., Singer, H.
|
|
<strong>Chromosomal constitution of meningiomas.</strong>
|
|
Nature 216: 84-85, 1967.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6050684/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6050684</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6050684" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1038/216084a0" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="57" class="mim-anchor"></a>
|
|
<a id="Zang1982" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Zang, K. D.
|
|
<strong>Cytological and cytogenetical studies on human meningioma.</strong>
|
|
Cancer Genet. Cytogenet. 6: 249-274, 1982.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6288229/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6288229</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6288229" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1016/0165-4608(82)90063-2" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="58" class="mim-anchor"></a>
|
|
<a id="Zang2001" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Zang, K. D.
|
|
<strong>Meningioma: a cytogenetic model of a complex benign human tumor, including data on 394 karyotyped cases.</strong>
|
|
Cytogenet. Cell Genet. 93: 207-220, 2001.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11528114/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11528114</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11528114" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1159/000056986" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
</ol>
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<a id="contributors" class="mim-anchor"></a>
|
|
|
|
<div class="row">
|
|
<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
|
|
<span class="mim-text-font">
|
|
<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
|
|
</span>
|
|
</div>
|
|
<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
|
<span class="mim-text-font">
|
|
Ada Hamosh - updated : 01/29/2014
|
|
</span>
|
|
</div>
|
|
</div>
|
|
<div class="row collapse" id="mimCollapseContributors">
|
|
<div class="col-lg-offset-2 col-md-offset-4 col-sm-offset-4 col-xs-offset-2 col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
|
<span class="mim-text-font">
|
|
Cassandra L. Kniffin - updated : 7/1/2013<br>Cassandra L. Kniffin - updated : 9/24/2012<br>Cassandra L. Kniffin - updated : 6/20/2012<br>Ada Hamosh - updated : 10/7/2011<br>Cassandra L. Kniffin - updated : 2/23/2011<br>Cassandra L. Kniffin - updated : 2/9/2005
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<a id="creationDate" class="mim-anchor"></a>
|
|
<div class="row">
|
|
<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
|
|
<span class="text-nowrap mim-text-font">
|
|
Creation Date:
|
|
</span>
|
|
</div>
|
|
<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
|
<span class="mim-text-font">
|
|
Cassandra L. Kniffin : 10/3/2002
|
|
</span>
|
|
</div>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<a id="editHistory" class="mim-anchor"></a>
|
|
|
|
<div class="row">
|
|
<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
|
|
<span class="text-nowrap mim-text-font">
|
|
<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
|
|
</span>
|
|
</div>
|
|
<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
|
<span class="mim-text-font">
|
|
carol : 06/19/2017
|
|
</span>
|
|
</div>
|
|
</div>
|
|
<div class="row collapse" id="mimCollapseEditHistory">
|
|
<div class="col-lg-offset-2 col-md-offset-2 col-sm-offset-4 col-xs-offset-4 col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
|
<span class="mim-text-font">
|
|
carol : 10/19/2016<br>alopez : 01/29/2014<br>carol : 7/3/2013<br>ckniffin : 7/1/2013<br>terry : 11/29/2012<br>terry : 9/26/2012<br>carol : 9/26/2012<br>ckniffin : 9/26/2012<br>carol : 9/26/2012<br>ckniffin : 9/24/2012<br>carol : 6/21/2012<br>terry : 6/21/2012<br>ckniffin : 6/20/2012<br>carol : 5/30/2012<br>alopez : 10/13/2011<br>terry : 10/7/2011<br>carol : 2/24/2011<br>ckniffin : 2/23/2011<br>carol : 2/15/2008<br>carol : 5/11/2005<br>terry : 3/3/2005<br>tkritzer : 2/23/2005<br>ckniffin : 2/9/2005<br>carol : 1/29/2003<br>carol : 1/28/2003<br>tkritzer : 11/19/2002<br>carol : 10/7/2002<br>carol : 10/4/2002<br>carol : 10/3/2002<br>ckniffin : 10/3/2002<br>carol : 10/3/2002<br>ckniffin : 10/3/2002
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
<div class="container visible-print-block">
|
|
|
|
<div class="row">
|
|
|
|
|
|
|
|
<div class="col-md-8 col-md-offset-1">
|
|
|
|
<div>
|
|
<div>
|
|
<h3>
|
|
<span class="mim-font">
|
|
<strong>#</strong> 607174
|
|
</span>
|
|
</h3>
|
|
</div>
|
|
|
|
<div>
|
|
<h3>
|
|
<span class="mim-font">
|
|
|
|
MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO
|
|
|
|
</span>
|
|
</h3>
|
|
</div>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<p>
|
|
<span class="mim-text-font">
|
|
|
|
|
|
|
|
|
|
<strong>ORPHA:</strong> 263662;
|
|
|
|
|
|
|
|
</span>
|
|
</p>
|
|
</div>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Phenotype-Gene Relationships</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<table class="table table-bordered table-condensed small mim-table-padding">
|
|
<thead>
|
|
<tr class="active">
|
|
<th>
|
|
Location
|
|
</th>
|
|
<th>
|
|
Phenotype
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> MIM number
|
|
</th>
|
|
<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
|
<th>
|
|
Gene/Locus
|
|
</th>
|
|
<th>
|
|
Gene/Locus <br /> MIM number
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
10q23.31
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
{Meningioma}
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
607174
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Autosomal dominant
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
3
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
PTEN
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
601728
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
10q24.32
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
{Meningioma, familial, susceptibility to}
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
607174
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Autosomal dominant
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
3
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
SUFU
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
607035
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
17q21.2
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
{Meningioma, familial, susceptibility to}
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
607174
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Autosomal dominant
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
3
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
SMARCE1
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
603111
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
22q12.1
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Meningioma
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
607174
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Autosomal dominant
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
3
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
MN1
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
156100
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
22q12.2
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Meningioma, NF2-related, somatic
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
607174
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
3
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
NF2
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
607379
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
22q13.1
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Meningioma, SIS-related
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
607174
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Autosomal dominant
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
3
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
PDGFB
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
190040
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
</tbody>
|
|
</table>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>TEXT</strong>
|
|
</span>
|
|
</h4>
|
|
|
|
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>A number sign (#) is used with this entry because susceptibility to the development of meningioma is caused by heterozygous mutation in the SMARCE1 gene (603111) on chromosome 17q21.</p><p>Heterozygous germline mutations in the SUFU gene (607035) on chromosome 10q24 and in the PDGFB gene (190040) on chromosome 22q, respectively, have been reported in 1 family with meningioma.</p><p>Somatic mutations in the gene encoding merlin (NF2; 607379) on chromosome 22q12 have also been found in tumor tissues of a subset of patients with meningiomas without other features of neurofibromatosis-2 (101000).</p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Description</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>Meningiomas are, in general, slowly growing benign tumors derived from the arachnoidal cap cells of the leptomeninges, the soft coverings of the brain and spinal cord. Meningiomas are believed to be the most common primary tumors of the central nervous system in man. The vast majority of meningiomas are sporadic; familial occurrence of meningioma is rare (Zang, 2001). </p><p>Familial or multiple meningiomas may also be seen in tumor predisposition syndromes. Some patients with schwannomatosis (162091), caused by mutation in the SMARCB1 gene, may develop meningiomas. One patient with malignant gliomas (GLM2; 613028) associated with a mutation in the PTEN gene (601728) developed a meningioma (Staal et al., 2002). </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Clinical Features</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>Aavikko et al. (2012) reported a Finnish family in which 5 sibs had adult-onset meningiomas between the ages of 43 and 72 years. Four of the 5 had multiple tumors. Germline and somatic alterations of the NF2 gene were excluded in these patients. No mutation carriers had medulloblastoma. </p><p>Smith et al. (2013) reported 6 patients from 4 unrelated families with spinal meningiomas. The age at onset was between 15 and 30 years, and 5 of the patients were female. Three of the woman developed the tumors during pregnancy, suggesting a hormonal influence on penetrance. All tumors showed a clear-cell histology. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Inheritance</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>Sedzimir et al. (1973) reported monozygotic twins with meningioma. Memon (1980) reported a 63-year-old woman with multiple meningiomas who had a son with a histologically similar tumor, and Pamphlett and Mackenzie (1981) reported a father and daughter with meningioma. </p><p>Yamanaka et al. (1984) reported 2 families in which 1 sib had meningioma and a second sib had schwannoma. Bolger et al. (1985) described a family in which a father and 3 of his 8 children had meningioma with clinical onset at ages ranging from 35 to 65 years. A fourth offspring died of multiple neoplasms arising at age 29 years. Ferrante et al. (1987) reported 2 sisters and McDowell (1990) reported a mother and 3 daughters with the disease. Sieb et al. (1992) described a family with 4 individuals in 2 generations with meningioma, and suggested autosomal dominant inheritance with high penetrance. Maxwell et al. (1998) found only 14 reports (since 1959) of familial meningioma in isolation from NF2. They reported a family lacking any stigmata of NF2 in which the mother and a daughter and son had meningiomas. In the 2 offspring, the meningiomas were spinal. Also see Joynt and Perret (1961). </p><p>The transmission pattern of meningioma in the family reported by Aavikko et al. (2012) was consistent with autosomal dominant inheritance. </p><p><strong><em>Association with Neurofibromatosis Type II</em></strong></p><p>
|
|
Patients with neurofibromatosis type II (NF2; 101000) are predisposed to a variety of central nervous system tumors, including vestibular schwannomas and meningiomas. Accordingly, multiple and familial occurrences of meningiomas have usually been reported in cases of NF2 (Cogen et al., 1991; MacCollin, 1999). </p><p>Delleman et al. (1978) observed meningioma in 5 members of 2 generations, with male-to-male transmission. One of the 5 had schwannoma, or acoustic neuroma. A member of the second generation, not available for examination, was said to have multiple cafe-au-lait spots. The authors viewed the kindred as one of neurofibromatosis with wide variability. </p><p>Maxwell et al. (1998) stated that almost all cases of familial meningioma occur in association with NF2. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Cytogenetics</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>Bolger et al. (1985) found that 3 sibs with meningioma carried a constitutional Robertsonian 14;22 translocation, t(14;22)(14qter-cen;22qter), in circulating leukocytes. Three additional sibs from the same family without meningioma had a normal karyotype. However, in the next generation, 4 carriers of the translocation were asymptomatic, except for one with breast cancer. </p><p>Arinami et al. (1986) described an institutionalized mentally retarded male with a constitutional ring chromosome 22 discovered during a cytogenetic survey. There appeared to be deletion of 22q13.3-qter. He died at age 27 and was found to have meningeal hypoplasia and dysplasia, including meningiomatosis and an unusual cyst containing meningocytic elements. Pressure of the cyst on the brainstem was thought to have caused death. Petrella et al. (1993) described a patient with multiple congenital anomalies and ring chromosome 22 who died at age 16 years of bronchopneumonia and was found at autopsy to have multiple psammomatous meningiomas of the spinal dura and tentorium. They stated that this was only the third report of a constitutional chromosome 22 abnormality associated with the development of meningiomas and suggested that patients with the chromosomal abnormality may be predisposed to the development of meningiomas. However, they also noted that in a previous study of 21 patients with ring chromosome 22 (Hunter et al., 1977), none was reported to have meningiomas. </p><p><strong><em>Somatic Cytogenetic Abnormalities</em></strong></p><p>
|
|
The tumor tissue of sporadic meningiomas often shows absence of one chromosome 22 or, less frequently, absence of distal 22q (Zang and Singer, 1967; Sandberg, 1980; Zang, 1982). </p><p>Casalone et al. (1987) confirmed the high frequency of abnormalities involving chromosome 22 in studies of 31 cases of meningiomas. They suggested that bands 22q11-q12 are critical. Seizinger et al. (1987) contributed to the evidence that chromosome 22 is involved in meningioma. In 17 of 40 constitutionally heterozygous patients (43%), hemizygosity for the corresponding DNA marker was found in their tumors. Meese et al. (1987) did similar studies; 3 of 12 patients showed loss of heterozygosity (LOH) of markers on chromosome 22. Using DNA markers, Okazaki et al. (1988) found loss of constitutional heterozygosity in 3 of 11 informative cases of meningioma. Maltby et al. (1988) studied the chromosomes from 50 meningiomas. Twenty-three of these tissue specimens had a normal diploid karyotype. Twenty-five had monosomy for chromosome 22, with or without a normal diploid line and/or additional aneuploidy. Cell lines monosomic for chromosome 22 also frequently had random chromosome loss. Lekanne Deprez et al. (1995) found partial or complete loss of chromosome 22 in 66 of 93 meningiomas. </p><p>Dumanski et al. (1987) studied LOH for chromosome 22 loci in tumor and normal tissue from 35 unrelated patients. Sixteen tumors retained the constitutional genotype along chromosome 22, while 14 tumors (40%) showed loss of 1 constitutional allele at all informative loci, consistent with monosomy 22 in the tumor DNA. The remaining 5 tumors (14%) showed LOH in the tumor DNA at 1 or more chromosome 22 loci and retained heterozygosity at other loci, consistent with other variable terminal deletions of 1 chromosome 22 in the tumor DNA. The results in these cases suggested that a meningioma locus is located distal to the myoglobin locus, within 22q12.3-qter. Multiple loci on other chromosomes also were studied, and 12 of the 19 tumors with losses of chromosome 22 alleles showed additional losses of heterozygosity at loci on 1 to 3 other chromosomes. All tumors that retained the constitutional genotype on chromosome 22 also retained heterozygosity on all informative loci on other chromosomes analyzed, suggesting that the rearrangement of chromosome 22 was the primary event in the tumorigenesis of meningioma. In a larger series that incorporated the earlier one, Dumanski et al. (1990) compared constitutional and tumor tissue genotypes from 81 unrelated patients with meningioma, studying 25 polymorphic loci on chromosome 22. In 30 tumors (37%) constitutional genotype was retained, consistent with no detectable aberrations on chromosome 22. In 42 tumors (52%) there was loss of 1 allele at all informative loci, consistent with monosomy 22 in the tumor DNA. The remaining 9 tumors (11%) retained constitutional heterozygosity in the tumor DNA at 1 or more centromeric loci and showed a loss of heterozygosity at other telomeric loci, consistent with variable terminal deletions of 1 chromosome 22q in the tumor DNA. </p><p>Fontaine et al. (1990) found that LOH in sporadic meningiomas involved the maternally derived chromosome 22 in 5 tumors and the paternally derived chromosome 22 in 4. Thus, in contrast to embryonal tumors (retinoblastoma and Wilms tumor), imprinting is apparently not a factor. Sanson et al. (1990) also found both maternal and paternal origin of the lost chromosome 22 in meningioma. </p><p>Zang (2001) karyotyped 394 meningiomas and reported the significant findings: 177 were diploid, 115 showed monosomy 22, 35 had monosomy 22 and loss of 1 to 5 additional chromosomes (-14, -18, -19, -10, -6), 49 had loss of 1p in addition to loss of 22 and other chromosomal loss, and 9 had only loss of 1p. The authors noted that increasing hypodiploidy was correlated with atypical or anaplastic tumor histology and that loss of 1p was associated with a more aggressive biologic course. Zang (2001) proposed several schemata of stepwise mechanisms in the development and progression of meningiomas. Noting a correlation between losses in 1p and reductions in the amount and activity of alkaline phosphatase (ALPL; 171760), Zang (2001) suggested that ALPL may be the involved gene on chromosome 1. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Mapping</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>By studies of tumor tissue, Dumanski et al. (1987, 1990) concluded that a meningioma locus is located distal to the myoglobin locus, within 22q12.3-qter. Dumanski et al. (1990) concluded that the meningioma locus is distinct from the NF2 locus (607174) inasmuch as they appear to be on opposite sides of the DNA marker D22S28. </p><p>Chung and Seizinger (1992) stated that although similar deletions of chromosome 22 have been found in acoustic neuroma and meningioma, it remained unclear whether distinct genetic loci were involved. </p><p>Pulst et al. (1992, 1993) presented linkage data suggesting that a meningioma locus is separate from the NF2 locus. They described multiple meningiomas and ependymomas in 2 generations of a family. Multipoint linkage analysis resulted in location scores less than -2 for a region of 15 cM, including the NF2 region. </p><p>By screening 8 of the 16 known NF2 exons in 151 sporadic meningiomas, Ruttledge et al. (1994) identified 24 inactivating mutations in the NF2 gene. Significantly, these aberrations were exclusively detected in tumors that lost the other chromosome 22 allele, suggesting that the suppressor gene on chromosome 22 is the NF2 gene. However, Ruttledge et al. (1994) suggested that another gene is involved in the development of about 40% of meningiomas. The same group found that 95% of fibroblastic meningiomas showed LOH on chromosome 22, whereas only one-third of tumors classified as meningothelial showed LOH on this autosome. Thus, variation in meningioma histology may reflect mutations at separate genetic loci. Tumors of purely fibroblastic histology may represent a genetic subgroup in which mutation of NF2 is a factor necessary for tumorigenesis. </p><p>In 2 affected offspring of an affected mother reported by Maxwell et al. (1998), immunocytochemical analysis for the NF2 protein product merlin showed that merlin was present in the tumor specimens from 2 affected offspring from an affected mother, implying that the NF2 tumor suppressor gene was not deleted in these tumors. The findings suggested that a second tumor suppressor gene locus, other than NF2, acts in the formation of familial 'sporadic' meningioma. </p><p>Zang (2001) suggested 'combined heterozygous loss' of NF2 and a second meningioma locus on chromosome 22 to explain the tumor suppressor gene mechanism. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Molecular Genetics</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p><strong><em>Mutation in the SUFU Gene</em></strong></p><p>
|
|
In affected members of a Finnish family with multiple adult-onset meningiomas, Aavikko et al. (2012) identified a germline heterozygous mutation in the SUFU gene (R123C; 607035.0007). The mutation was identified by genomewide linkage analysis combined with exome sequencing. Tumor tissue from 7 meningiomas showed loss of heterozygosity at the SUFU locus, consistent with a 2-hit model for tumor suppressor genes. In vitro functional expression studies in human rhabdomyosarcoma cells showed that the R123C mutant protein had a significantly decreased ability to suppress GLI1 (165220) activity compared to wildtype SUFU, resulting in aberrant activation of the hedgehog signaling pathway. SUFU mutations were not identified in 162 additional Finnish patients with meningioma. </p><p><strong><em>PDGFB Gene</em></strong></p><p>
|
|
Bolger et al. (1985) reported 2 living sibs with meningioma who were found to have a variant of the SIS oncogene (PDGFB; 190040) on chromosome 22q12 in peripheral leukocyte DNA. Family studies showed that the SIS variant segregated with the normal chromosome 22. Later studies by Smidt et al. (1990) showed that the affected members of the family reported by Bolger et al. (1985) had deletion of Alu sequences in the fifth intron of the SIS gene (190040.0001). </p><p><strong><em>MN1 Disruption</em></strong></p><p>
|
|
Lekanne Deprez et al. (1995) used a balanced translocation involving chromosome 22 from a meningioma to isolate a gene they designated MN1 (156100) which was disrupted by the translocation. In the meningioma carrying this translocation, no expression of the MN1 mRNA was observed. The translocation in this case represented a germline change in a patient with multiple meningiomas (Lekanne Deprez et al., 1991). </p><p><strong><em>SMARCB1 Gene</em></strong></p><p>
|
|
Bacci et al. (2010) reported a family in which affected individuals had multiple schwannomas and meningiomas associated with a heterozygous mutation in the SMARCB1 gene (E31V; 601607.0010). Bacci et al. (2010) noted that meningiomas are not frequently found in patients with schwannomatosis (162091), but should be considered part of the phenotype. </p><p>Christiaans et al. (2011) reported a family in which 5 individuals developed meningiomas, 2 of whom also developed schwannomas. All patients carried a heterozygous mutation in the SMARCB1 gene (P48L; 601607.0011), and meningioma tumors showed loss of the wildtype allele, consistent with the 2-hit hypothesis of tumorigenesis. Meningiomas developed between ages 34 and 56 years, both in the cranium as extra-axial lesions and in the spinal cord as extramedullary lesions. In addition, 1 patient developed multiple chest wall and spinal schwannomas and another developed a single vestibular schwannoma. Two different meningioma tumors from the same patient also carried 2 different heterozygous somatic mutations in the NF2 gene (607379) as well as loss of heterozygosity at the NF2 locus. Christiaans et al. (2011) concluded that the SMARCB1 mutation predisposed the carriers to the development of meningiomas. The mutation may also have predisposed carriers to schwannomas, implying that meningiomas may be part of the schwannomatosis tumor spectrum, as suggested by Bacci et al. (2010), but the schwannomas may also be coincidental findings. The role of the NF2 mutations was uncertain, but may contribute to a 4-hit hypothesis involving 2 genes. Van den Munckhof et al. (2012) provided further studies of the family reported by Christiaans et al. (2011). Reexamination of tumor tissue from 4 meningiomas and 2 schwannomas showed that all tumors had LOH for both SMARCB1 and NF2, consistent with a deletion of a segment of chromosome 22 containing these 2 genes. Three meningiomas and 2 schwannomas were each found to carry somatic mutations in the NF2 gene. Thus, the genetic changes found in the 2 tumor types were the same and characteristic for SMARCB1-mutation positive tumors: retention of the exon 2 mutation, acquisition of an NF2 mutation, and LOH of the wildtype allele of both genes. In addition, van den Munckhof et al. (2012) identified 11 more carriers of the P48L mutation in this family. Eight of these 11 mutation carriers were found to carry 11 lesions suggestive of cranial meningioma and 6 spinal lesions consistent with meningiomas or schwannomas. Nine (82%) of the 11 cranial meningiomas were found in the falx cerebri. Van den Munckhof et al. (2012) concluded that meningiomas should be included in the schwannomatosis tumor spectrum. </p><p><strong><em>SMARCE1 Gene</em></strong></p><p>
|
|
In 6 patients from 4 unrelated families with spinal meningiomas, Smith et al. (2013) identified 4 different heterozygous loss-of-function mutations in the SMARCE1 gene (603111.0002-603111.0005). The first 2 mutations were identified by exome sequencing, and the second 2 were found by Sanger sequencing of the SMARCE1 gene in 6 additional patients with spinal meningiomas. One unaffected father was heterozygous for the mutation, indicating incomplete penetrance. All spinal tumors were clear-cell type, and all tumors studied showed loss of the SMARCE1 protein, consistent with a tumor suppressor mechanism. However, only 1 of 3 tumors analyzed showed loss of heterozygosity for wildtype SMARCE1. Sequencing SMARCE1 in 34 individuals with multiple cranial meningiomas did not identify any mutations, suggesting that the mutations are specific for spinal tumors. Smith et al. (2013) postulated that loss of SMARCE1 activity may lead to the uncoupling of apoptotic control. </p><p><strong><em>Associations Pending Confirmation</em></strong></p><p>
|
|
Dobbins et al. (2011) performed a genomewide association study of 859 affected individuals with meningioma and 704 controls with validation in 2 independent sample sets totaling 774 cases and 1,764 controls. They identified a new susceptibility locus for meningioma at 10p12.31 in the MLLT10 gene (602409) at rs11012732 (odds ratio = 1.46, combined P value = 1.88 x 10(-14)). </p><p><strong><em>Somatic Mutations</em></strong></p><p>
|
|
In 8 of 70 sporadic meningiomas, Peyrard et al. (1994) found specific loss of expression of a beta-adaptin gene called BAM22 (600157). They reviewed the evidence suggesting that multiple genes on chromosome 22 are involved in the oncogenesis of meningioma and suggested that BAM22 may be second in importance to the NF2 (607379) gene. </p><p>Wellenreuther et al. (1995) suggested that the NF2 gene represents the meningioma locus on chromosome 22. The association of LOH on chromosome 22 with somatic mutations in the NF2 gene was significant. Somatic NF2 mutations occurred significantly more frequently in fibroblastic meningioma (70%) and transitional meningioma (83%) than in meningiothelial meningioma (25%), thus indicating a differential molecular pathogenesis of these meningioma variants. </p><p>Schmitz et al. (2001) found the same somatic mutation (R377H) in exon 9 of the SMARCB1 gene in 4 of 126 meningiomas. The data indicated that SMARCB1 is a candidate tumor suppressor gene on chromosome 22 that may be important for the genesis of meningiomas. </p><p>Eckstein et al. (2004) reported a 42-year-old man with a single meningioma that was resected. Over the next 15 years, he developed multiple recurrent meningiomas with the same histopathology in different areas of the brain, spinal cord, and lung. He had no clinical history of NF2 or vestibular schwannomas and no family history of meningioma. Genetic analysis of all tumor DNA identified a somatic 2-bp deletion in exon 1 of the NF2 gene, which was not present in the patient's blood. The second NF2 allele was lost in the tumors, consistent with the action of NF2 as a tumor suppressor gene. Eckstein et al. (2004) noted the unusual recurrence, long survival, and lack of histologic progression of the tumor over a long period of time and postulated that other genes may be involved. </p><p>Brastianos et al. (2013) performed whole-genome or whole-exome sequencing on 17 meningiomas and sequenced an additional 48 tumors to identify and validate somatic genetic alterations. Most meningiomas had simple genomes, with fewer mutations, rearrangements, and copy number alterations than reported in other tumors in adults. However, several meningiomas harbored more complex patterns of copy number changes and rearrangements, including 1 tumor with chromothripsis. Brastianos et al. (2013) confirmed focal NF2 inactivation in 43% of tumors and found alterations in epigenetic modifiers in an additional 8% of tumors. A subset of meningiomas lacking NF2 alterations harbored recurrent oncogenic mutations in AKT1 (164730) (E17K) and SMO (601500) (W535L) and exhibited immunohistochemical evidence of activation of these pathways. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>See Also:</strong>
|
|
</span>
|
|
</h4>
|
|
<span class="mim-text-font">
|
|
Buijs et al. (1995); Gaist and Piazza (1959); Hope and Mulvihill
|
|
(1981); Joynt and Perret (1965); Kinzler and Vogelstein (1993); Lele
|
|
et al. (1963); Sahar (1965); Sanson et al. (1993); Stallard (1962)
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>REFERENCES</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
<div>
|
|
<ol>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Aavikko, M., Li, S.-P., Saarinen, S., Alhopuro, P., Kaasinen, E., Morgunova, E., Li, Y., Vesanen, K., Smith, M. J., Evans, D. G. R., Poyhonen, M., Kiuru, A., Auvinen, A., Aaltonen, L. A., Taipale, J., Vahteristo, P.
|
|
<strong>Loss of SUFU function in familial multiple meningioma.</strong>
|
|
Am. J. Hum. Genet. 91: 520-526, 2012.
|
|
|
|
|
|
[PubMed: 22958902]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/j.ajhg.2012.07.015]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Arinami, T., Kondo, I., Hamaguchi, H., Nakajima, S.
|
|
<strong>Multifocal meningiomas in a patient with a constitutional ring chromosome 22.</strong>
|
|
J. Med. Genet. 23: 178-179, 1986.
|
|
|
|
|
|
[PubMed: 3712397]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1136/jmg.23.2.178]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Bacci, C., Sestini, R., Provenzano, A., Paganini, I., Mancini, I., Porfirio, B., Vivarelli, R., Genuardi, M., Papi, L.
|
|
<strong>Schwannomatosis associated with multiple meningiomas due to a familial SMARCB1 mutation.</strong>
|
|
Neurogenetics 11: 73-80, 2010.
|
|
|
|
|
|
[PubMed: 19582488]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1007/s10048-009-0204-2]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Bolger, G. B., Stamberg, J., Kirsch, I. R., Hollis, G. F., Schwarz, D. F., Thomas, G. H.
|
|
<strong>Chromosome translocation t(14;22) and oncogene (c-sis) variant in a pedigree with familial meningioma.</strong>
|
|
New Eng. J. Med. 312: 564-567, 1985.
|
|
|
|
|
|
[PubMed: 3969118]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1056/NEJM198502283120907]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Brastianos, P. K., Horowitz, P. M., Santagata, S., Jones, R. T., McKenna, A., Getz, G., Ligon, K. L., Palescandolo, E., Van Hummelen, P., Ducar, M. D., Raza, A., Sunkavalli, A., MacConaill, L. E., Stemmer-Rachamimov, A. O., Louis, D. N., Hahn, W. C., Dunn, I. F., Beroukhim, R.
|
|
<strong>Genomic sequencing of meningiomas identifies oncogenic SMO and AKT1 mutations.</strong>
|
|
Nature Genet. 45: 285-289, 2013.
|
|
|
|
|
|
[PubMed: 23334667]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1038/ng.2526]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Buijs, A., Sherr, S., van Baal, S., van Bezouw, S., van der Plas, D., Geurts van Kessel, A., Riegman, P., Lekanne Deprez, R., Zwarthoff, E., Hagemeijer, A., Grosveld, G.
|
|
<strong>Translocation (12;22)(p13;q11) in myeloproliferative disorders results in fusion of the ETS-like TEL gene on 12q13 to the MN1 gene on 22q11.</strong>
|
|
Oncogene 10: 1511-1519, 1995. Note: Erratum: Oncogene 11: 809 only, 1995.
|
|
|
|
|
|
[PubMed: 7731705]
|
|
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Casalone, R., Granata, P., Simi, P., Tarantino, E., Butti, G., Buonaguidi, R., Faggionato, F., Knerich, R., Solero, L.
|
|
<strong>Recessive cancer genes in meningiomas? An analysis of 31 cases.</strong>
|
|
Cancer Genet. Cytogenet. 27: 145-159, 1987.
|
|
|
|
|
|
[PubMed: 3472644]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/0165-4608(87)90269-x]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Christiaans, I., Kenter, S. B., Brink, H. C., van Os, T. A. M., Baas, F., van den Munckhof, P., Kidd, A. M. J., Hulsebos, T. J. M.
|
|
<strong>Germline SMARCB1 mutation and somatic NF2 mutations in familial multiple meningiomas.</strong>
|
|
J. Med. Genet. 48: 93-97, 2011.
|
|
|
|
|
|
[PubMed: 20930055]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1136/jmg.2010.082420]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Chung, R. Y., Seizinger, B. R.
|
|
<strong>Molecular genetics of neurological tumours.</strong>
|
|
J. Med. Genet. 29: 361-367, 1992.
|
|
|
|
|
|
[PubMed: 1320124]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1136/jmg.29.6.361]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Cogen, P. H., Daneshvar, L., Bowcock, A. M., Metzger, A. K., Cavalli-Sforza, L. L.
|
|
<strong>Loss of heterozygosity for chromosome 22 DNA sequences in human meningioma.</strong>
|
|
Cancer Genet. Cytogenet. 53: 271-277, 1991.
|
|
|
|
|
|
[PubMed: 1676608]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/0165-4608(91)90104-3]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Delleman, J. W., De Jong, J. G. Y., Bleeker, G. M.
|
|
<strong>Meningiomas in five members of a family over two generations, in one member simultaneously with acoustic neurinomas.</strong>
|
|
Neurology 28: 567-570, 1978.
|
|
|
|
|
|
[PubMed: 418361]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1212/wnl.28.6.567]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Dobbins, S. E., Broderick, P., Melin, B., Feychting, M., Johansen, C., Andersson, U., Brannstrom, T., Schramm, J., Olver, B., Lloyd, A., Ma, Y. P., Hosking, F. J., and 15 others.
|
|
<strong>Common variation at 10p12.31 near MLLT10 influences meningioma risk.</strong>
|
|
Nature Genet. 43: 825-827, 2011.
|
|
|
|
|
|
[PubMed: 21804547]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1038/ng.879]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Dumanski, J. P., Carlbom, E., Collins, V. P., Nordenskjold, M.
|
|
<strong>Deletion mapping of a locus on human chromosome 22 involved in the oncogenesis of meningioma.</strong>
|
|
Proc. Nat. Acad. Sci. 84: 9275-9279, 1987.
|
|
|
|
|
|
[PubMed: 2892198]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1073/pnas.84.24.9275]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Dumanski, J. P., Rouleau, G. A., Nordenskjold, M., Collins, V. P.
|
|
<strong>Molecular genetic analysis of chromosome 22 in 81 cases of meningioma.</strong>
|
|
Cancer Res. 50: 5863-5867, 1990.
|
|
|
|
|
|
[PubMed: 2393856]
|
|
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Eckstein, O., Stemmer-Rachamimov, A., Nunes, F., Hoch, D., Ojemann, R., MacCollin, M.
|
|
<strong>Multiple meningiomas in brain and lung due to acquired mutation of the NF2 gene.</strong>
|
|
Neurology 62: 1904-1905, 2004.
|
|
|
|
|
|
[PubMed: 15159511]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1212/01.wnl.0000125249.36445.cc]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Ferrante, L., Acqui, M., Mastronardi, L., Nucci, F.
|
|
<strong>Familial meningiomas. Report of two cases.</strong>
|
|
J. Neurosurg. Sci. 31: 145-151, 1987.
|
|
|
|
|
|
[PubMed: 3329680]
|
|
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Fontaine, B., Rouleau, G. A., Seizinger, B., Jewell, A. F., Hanson, M. P., Martuza, R. L., Gusella, J. F.
|
|
<strong>Equal parental origin of chromosome 22 losses in human sporadic meningioma: no evidence for genomic imprinting.</strong>
|
|
Am. J. Hum. Genet. 47: 823-827, 1990.
|
|
|
|
|
|
[PubMed: 2220822]
|
|
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Gaist, G., Piazza, G.
|
|
<strong>Meningiomas in two members of the same family (with no evidence of neurofibromatosis).</strong>
|
|
J. Neurosurg. 16: 110-113, 1959.
|
|
|
|
|
|
[PubMed: 13621270]
|
|
|
|
|
|
[Full Text: https://doi.org/10.3171/jns.1959.16.1.0110]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Hope, D. G., Mulvihill, J. J.
|
|
<strong>Malignancy in neurofibromatosis. In: Riccardi, V. M.; Mulvihill, J. J. (eds.): Neurofibromatosis (von Recklinghausen Disease).</strong>
|
|
New York: Raven Press (pub.) 1981. Note: Alternate: Adv. Neurol. 29: 33-56, 1981.
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Hunter, A. G. W., Ray, M., Wang, H. S., Thompson, D. R.
|
|
<strong>Phenotypic correlations in patients with ring chromosome 22.</strong>
|
|
Clin. Genet. 12: 239-249, 1977.
|
|
|
|
|
|
[PubMed: 912941]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1111/j.1399-0004.1977.tb00933.x]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Joynt, R. J., Perret, G. E.
|
|
<strong>Meningiomas in a mother and daughter: cases without evidence of neurofibromatosis.</strong>
|
|
Neurology 11: 164-165, 1961.
|
|
|
|
|
|
[PubMed: 13790892]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1212/wnl.11.2.164]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Joynt, R. J., Perret, G. E.
|
|
<strong>Familial meningiomas.</strong>
|
|
J. Neurol. Neurosurg. Psychiat. 28: 163-164, 1965.
|
|
|
|
|
|
[PubMed: 14285655]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1136/jnnp.28.2.163]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Kinzler, K. W., Vogelstein, B.
|
|
<strong>A gene for neurofibromatosis 2.</strong>
|
|
Nature 363: 495-496, 1993.
|
|
|
|
|
|
[PubMed: 8505975]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1038/363495a0]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Lekanne Deprez, R. H., Groen, N. A., van Biezen, N. A., Hagemeijer, A., van Drunen, E., Koper, J. W., Avezaat, C. J. J., Bootsma, D., Zwarthoff, E. C.
|
|
<strong>A t(4;22) in a meningioma points to the localization of a putative tumor-suppressor gene.</strong>
|
|
Am. J. Hum. Genet. 48: 783-790, 1991.
|
|
|
|
|
|
[PubMed: 2014801]
|
|
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Lekanne Deprez, R. H., Riegman, P. H. J., Groen, N. A., Warringa, U. L., van Biezen, N. A., Molijn, A. C., Bootsma, D., de Jong, P. J., Menon, A. G., Kley, N. A., Seizinger, B. R., Zwarthoff, E. C.
|
|
<strong>Cloning and characterization of MN1, a gene from chromosome 22q11, which is disrupted by a balanced translocation in a meningioma.</strong>
|
|
Oncogene 10: 1521-1528, 1995.
|
|
|
|
|
|
[PubMed: 7731706]
|
|
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Lekanne Deprez, R. H., Riegman, P. H., van Drunen, E., Warringa, U. L., Groen, N. A., Stefanko, S. Z., Koper, J. W., Avezaat, C. J. J., Mulder, P. G. H., Zwarthoff, E. C., Hagemeijer, A.
|
|
<strong>Cytogenetic, molecular genetic and pathological analyses in 126 meningiomas.</strong>
|
|
J. Neuropath. Exp. Neurol. 54: 224-235, 1995.
|
|
|
|
|
|
[PubMed: 7876890]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1097/00005072-199503000-00009]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Lele, K. P., Penrose, L. S., Stallard, H. B.
|
|
<strong>Chromosome deletion in a case of retinoblastoma.</strong>
|
|
Ann. Hum. Genet. 27: 171-174, 1963.
|
|
|
|
|
|
[PubMed: 14081487]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1111/j.1469-1809.1963.tb00209.x]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
MacCollin, M.
|
|
<strong>Neurofibromatosis 2: clinical aspects. In: Friedman, J. M.; Gutmann, D. H.; MacCollin, M.; Riccardi, V. M. (eds.): Neurofibromatosis: phenotype, natural history, and pathogenesis.</strong>
|
|
Baltimore: Johns Hopkins Univ. Press 1999. Pp. 299-326.
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Maltby, E. L., Ironside, J. W., Battersby, R. D. E.
|
|
<strong>Cytogenetic studies in 50 meningiomas.</strong>
|
|
Cancer Genet. Cytogenet. 31: 199-210, 1988.
|
|
|
|
|
|
[PubMed: 3162394]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/0165-4608(88)90218-x]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Maxwell, M., Shih, S. D., Galanopoulos, T., Hedley-Whyte, E. T., Cosgrove, G. R.
|
|
<strong>Familial meningioma: analysis of expression of neurofibromatosis 2 protein merlin: report of two cases.</strong>
|
|
J. Neurosurg. 88: 562-569, 1998.
|
|
|
|
|
|
[PubMed: 9488313]
|
|
|
|
|
|
[Full Text: https://doi.org/10.3171/jns.1998.88.3.0562]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
McDowell, J. R.
|
|
<strong>Familial meningioma.</strong>
|
|
Neurology 40: 312-314, 1990.
|
|
|
|
|
|
[PubMed: 2300254]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1212/wnl.40.2.312]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Meese, E., Blin, N., Zang, K. D.
|
|
<strong>Loss of heterozygosity and the origin of meningioma.</strong>
|
|
Hum. Genet. 77: 349-351, 1987.
|
|
|
|
|
|
[PubMed: 2891603]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1007/BF00291425]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Memon, M. Y.
|
|
<strong>Multiple and familial meningiomas without evidence of neurofibromatosis.</strong>
|
|
Neurosurgery 7: 262-264, 1980.
|
|
|
|
|
|
[PubMed: 6782502]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1227/00006123-198009000-00010]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Okazaki, M., Nishisho, I., Tateishi, H., Motomura, K., Yamamoto, M., Miki, T., Hayakawa, T., Takai, S., Honjo, T., Mori, T.
|
|
<strong>Loss of genes on the long arm of chromosome 22 in human meningiomas.</strong>
|
|
Molec. Biol. Med. 5: 15-22, 1988.
|
|
|
|
|
|
[PubMed: 2897611]
|
|
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Pamphlett, R., Mackenzie, R. A.
|
|
<strong>Familial occurrence of meningioma: a case report.</strong>
|
|
Clin. Exp. Neurol. 18: 169-173, 1981.
|
|
|
|
|
|
[PubMed: 6926386]
|
|
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Petrella, R., Levine, S., Wilmot, P. L., Ashar, K. D., Casamassima, A. C., Shapiro, L. R.
|
|
<strong>Multiple meningiomas in a patient with constitutional ring chromosome 22.</strong>
|
|
Am. J. Med. Genet. 47: 184-186, 1993.
|
|
|
|
|
|
[PubMed: 8213904]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1002/ajmg.1320470211]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Peyrard, M., Fransson, I., Xie, Y.-G., Han, F.-Y., Ruttledge, M. H., Swahn, S., Collins, J. E., Dunham, I., Collins, V. P., Dumanski, J. P.
|
|
<strong>Characterization of a new member of the human beta-adaptin gene family from chromosome 22q12, a candidate meningioma gene.</strong>
|
|
Hum. Molec. Genet. 3: 1393-1399, 1994.
|
|
|
|
|
|
[PubMed: 7987321]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1093/hmg/3.8.1393]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Pulst, S.-M., Rouleau, G. A., Marineau, C., Fain, P., Sieb, J. P.
|
|
<strong>Familial meningioma is not allelic to neurofibromatosis 2.</strong>
|
|
Neurology 43: 2096-2098, 1993.
|
|
|
|
|
|
[PubMed: 8413972]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1212/wnl.43.10.2096]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Pulst, S.-M., Rouleau, G., Fain, P., Sieb, J. P.
|
|
<strong>Familial meningioma is not allelic to neurofibromatosis 2. (Abstract)</strong>
|
|
Am. J. Hum. Genet. 51 (suppl.): A106 only, 1992.
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Ruttledge, M. H., Sarrazin, J., Rangaratnam, S., Phelan, C. M., Twist, E., Merel, P., Delattre, O., Thomas, G., Nordenskjold, M., Collins, V. P., Dumanski, J. P., Rouleau, G. A.
|
|
<strong>Evidence for the complete inactivation of the NF2 gene in the majority of sporadic meningiomas.</strong>
|
|
Nature Genet. 6: 180-184, 1994.
|
|
|
|
|
|
[PubMed: 8162072]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1038/ng0294-180]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Sahar, A.
|
|
<strong>Familial occurrence of meningiomas: case report.</strong>
|
|
J. Neurosurg. 23: 444-445, 1965.
|
|
|
|
|
|
[PubMed: 5852402]
|
|
|
|
|
|
[Full Text: https://doi.org/10.3171/jns.1965.23.4.0444]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Sandberg, A. A.
|
|
<strong>The Chromosomes in Human Cancer and Leukemia.</strong>
|
|
New York: Elsevier (pub.) 1980. Pp. 535-543.
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Sanson, M., Delattre, O., Couturier, J., Philippon, J., Cophignon, J., Derome, P., Rouleau, G. A., Thomas, G.
|
|
<strong>Parental origin of chromosome 22 alleles lost in meningioma. (Letter)</strong>
|
|
Am. J. Hum. Genet. 47: 877-880, 1990. Note: Erratum: Am. J. Hum. Genet. 48: 176 only, 1991.
|
|
|
|
|
|
[PubMed: 1977313]
|
|
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Sanson, M., Marineau, C., Desmaze, C., Lutchman, M., Ruttledge, M., Baron, C., Narod, S., Delattre, O., Lenoir, G., Thomas, G., Aurias, A., Rouleau, G. A.
|
|
<strong>Germline deletion in a neurofibromatosis type 2 kindred inactivates the NF2 gene and a candidate meningioma locus.</strong>
|
|
Hum. Molec. Genet. 2: 1215-1220, 1993.
|
|
|
|
|
|
[PubMed: 8401504]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1093/hmg/2.8.1215]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Schmitz, U., Mueller, W., Weber, M., Sevenet, N., Delattre, O., von Deimling, A.
|
|
<strong>INI1 mutations in meningiomas at a potential hotspot in exon 9.</strong>
|
|
Brit. J. Cancer 84: 199-201, 2001.
|
|
|
|
|
|
[PubMed: 11161377]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1054/bjoc.2000.1583]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Sedzimir, C. B., Frazer, A. K., Roberts, J. R.
|
|
<strong>Cranial and spinal meningiomas in a pair of identical twin boys.</strong>
|
|
J. Neurol. Neurosurg. Psychiat. 36: 368-376, 1973.
|
|
|
|
|
|
[PubMed: 4714099]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1136/jnnp.36.3.368]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Seizinger, B. R., de la Monte, S., Atkins, L., Gusella, J. F., Martuza, R. L.
|
|
<strong>Molecular genetic approach to human meningioma: loss of genes on chromosome 22.</strong>
|
|
Proc. Nat. Acad. Sci. 84: 5419-5423, 1987.
|
|
|
|
|
|
[PubMed: 3037550]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1073/pnas.84.15.5419]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Sieb, J. P., Pulst, S.-M., Buch, A.
|
|
<strong>Familial CNS tumors.</strong>
|
|
J. Neurol. 239: 343-344, 1992.
|
|
|
|
|
|
[PubMed: 1512611]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1007/BF00867592]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Smidt, M., Kirsch, I., Ratner, L.
|
|
<strong>Deletion of Alu sequences in the fifth c-sis intron in individuals with meningiomas.</strong>
|
|
J. Clin. Invest. 86: 1151-1157, 1990.
|
|
|
|
|
|
[PubMed: 2212004]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1172/JCI114820]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Smith, M. J., O'Sullivan, J., Bhaskar, S. S., Hadfield, K. D., Poke, G., Caird, J., Sharif, S., Eccles, D., Fitzpatrick, D., Rawluk, D., du Plessis, D., Newman, W. G., Evans, D. G.
|
|
<strong>Loss-of-function mutations in SMARCE1 cause an inherited disorder of multiple spinal meningiomas.</strong>
|
|
Nature Genet. 45: 295-298, 2013.
|
|
|
|
|
|
[PubMed: 23377182]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1038/ng.2552]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Staal, F. J. T., van der Luijt, R. B., Baert, M. R. M., van Drunen, J., van Bakel, H., Peters, E., de Valk, I., van Amstel, H. K. P., Taphoorn, M. J. B., Jansen, G. H., van Veelen, C. W. M., Burgering, B., Staal, G. E. J.
|
|
<strong>A novel germline mutation of PTEN associated with brain tumours of multiple lineages.</strong>
|
|
Brit. J. Cancer 86: 1586-1591, 2002.
|
|
|
|
|
|
[PubMed: 12085208]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1038/sj.bjc.6600206]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Stallard, H. B.
|
|
<strong>The conservative treatment of retinoblastoma.</strong>
|
|
Trans. Ophthal. Soc. 82: 473-534, 1962.
|
|
|
|
|
|
[PubMed: 13983306]
|
|
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
van den Munckhof, P., Christiaans, I., Kenter, S. B., Baas, F., Hulsebos, T. J. M.
|
|
<strong>Germline SMARCB1 mutation predisposes to multiple meningiomas and schwannomas with preferential location of cranial meningiomas at the falx cerebri.</strong>
|
|
Neurogenetics 13: 1-7, 2012.
|
|
|
|
|
|
[PubMed: 22038540]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1007/s10048-011-0300-y]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Wellenreuther, R., Kraus, J. A., Lenartz, D., Menon, A. G., Schramm, J., Louis, D. N., Ramesh, V., Gusella, J. F., Wiestler, O. D., von Deimling, A.
|
|
<strong>Analysis of the neurofibromatosis 2 gene reveals molecular variants of meningioma.</strong>
|
|
Am. J. Path. 146: 827-832, 1995.
|
|
|
|
|
|
[PubMed: 7717450]
|
|
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Yamanaka, C., Fujioka, Y., Okada, Y., Harada, K., Uozumi, T.
|
|
<strong>[Meningioma and acoustic neurinoma occurring in two siblings of two different families.]</strong>
|
|
No To Shinkei 36: 957-968, 1984.
|
|
|
|
|
|
[PubMed: 6518127]
|
|
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Zang, K. D., Singer, H.
|
|
<strong>Chromosomal constitution of meningiomas.</strong>
|
|
Nature 216: 84-85, 1967.
|
|
|
|
|
|
[PubMed: 6050684]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1038/216084a0]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Zang, K. D.
|
|
<strong>Cytological and cytogenetical studies on human meningioma.</strong>
|
|
Cancer Genet. Cytogenet. 6: 249-274, 1982.
|
|
|
|
|
|
[PubMed: 6288229]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/0165-4608(82)90063-2]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Zang, K. D.
|
|
<strong>Meningioma: a cytogenetic model of a complex benign human tumor, including data on 394 karyotyped cases.</strong>
|
|
Cytogenet. Cell Genet. 93: 207-220, 2001.
|
|
|
|
|
|
[PubMed: 11528114]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1159/000056986]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
</ol>
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div class="row">
|
|
<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
|
|
<span class="text-nowrap mim-text-font">
|
|
Contributors:
|
|
</span>
|
|
</div>
|
|
<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
|
<span class="mim-text-font">
|
|
Ada Hamosh - updated : 01/29/2014<br>Cassandra L. Kniffin - updated : 7/1/2013<br>Cassandra L. Kniffin - updated : 9/24/2012<br>Cassandra L. Kniffin - updated : 6/20/2012<br>Ada Hamosh - updated : 10/7/2011<br>Cassandra L. Kniffin - updated : 2/23/2011<br>Cassandra L. Kniffin - updated : 2/9/2005
|
|
</span>
|
|
</div>
|
|
</div>
|
|
</div>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div class="row">
|
|
<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
|
|
<span class="text-nowrap mim-text-font">
|
|
Creation Date:
|
|
</span>
|
|
</div>
|
|
<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
|
<span class="mim-text-font">
|
|
Cassandra L. Kniffin : 10/3/2002
|
|
</span>
|
|
</div>
|
|
</div>
|
|
</div>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div class="row">
|
|
<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
|
|
<span class="text-nowrap mim-text-font">
|
|
Edit History:
|
|
</span>
|
|
</div>
|
|
<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
|
<span class="mim-text-font">
|
|
carol : 06/19/2017<br>carol : 10/19/2016<br>alopez : 01/29/2014<br>carol : 7/3/2013<br>ckniffin : 7/1/2013<br>terry : 11/29/2012<br>terry : 9/26/2012<br>carol : 9/26/2012<br>ckniffin : 9/26/2012<br>carol : 9/26/2012<br>ckniffin : 9/24/2012<br>carol : 6/21/2012<br>terry : 6/21/2012<br>ckniffin : 6/20/2012<br>carol : 5/30/2012<br>alopez : 10/13/2011<br>terry : 10/7/2011<br>carol : 2/24/2011<br>ckniffin : 2/23/2011<br>carol : 2/15/2008<br>carol : 5/11/2005<br>terry : 3/3/2005<br>tkritzer : 2/23/2005<br>ckniffin : 2/9/2005<br>carol : 1/29/2003<br>carol : 1/28/2003<br>tkritzer : 11/19/2002<br>carol : 10/7/2002<br>carol : 10/4/2002<br>carol : 10/3/2002<br>ckniffin : 10/3/2002<br>carol : 10/3/2002<br>ckniffin : 10/3/2002
|
|
</span>
|
|
</div>
|
|
</div>
|
|
</div>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
</div>
|
|
|
|
|
|
<div id="mimFooter">
|
|
|
|
|
|
<div class="container ">
|
|
<div class="row">
|
|
<br />
|
|
<br />
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<div class="hidden-print mim-footer">
|
|
<div class="container">
|
|
<div class="row">
|
|
<p />
|
|
</div>
|
|
<div class="row text-center small">
|
|
NOTE: OMIM is intended for use primarily by physicians and other professionals concerned with genetic disorders, by genetics researchers,
|
|
and by advanced students in science and medicine. While the OMIM database is open to the public, users seeking information about a personal
|
|
medical or genetic condition are urged to consult with a qualified physician for diagnosis and for answers to personal questions.
|
|
<br />
|
|
OMIM<sup>®</sup> and Online Mendelian Inheritance in Man<sup>®</sup> are registered trademarks of the Johns Hopkins University.
|
|
<br />
|
|
Copyright<sup>®</sup> 1966-2025 Johns Hopkins University.
|
|
</div>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<div class="visible-print-block mim-footer" style="position: relative;">
|
|
<div class="container">
|
|
<div class="row">
|
|
<p />
|
|
</div>
|
|
<div class="row text-center small">
|
|
NOTE: OMIM is intended for use primarily by physicians and other professionals concerned with genetic disorders, by genetics researchers,
|
|
and by advanced students in science and medicine. While the OMIM database is open to the public, users seeking information about a personal
|
|
medical or genetic condition are urged to consult with a qualified physician for diagnosis and for answers to personal questions.
|
|
<br />
|
|
OMIM<sup>®</sup> and Online Mendelian Inheritance in Man<sup>®</sup> are registered trademarks of the Johns Hopkins University.
|
|
<br />
|
|
Copyright<sup>®</sup> 1966-2025 Johns Hopkins University.
|
|
<br />
|
|
Printed: March 12, 2025
|
|
</div>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div class="modal fade" id="mimDonationPopupModal" tabindex="-1" role="dialog" aria-labelledby="mimDonationPopupModalTitle">
|
|
<div class="modal-dialog" role="document">
|
|
<div class="modal-content">
|
|
<div class="modal-header">
|
|
<button type="button" id="mimDonationPopupCancel" class="close" data-dismiss="modal" aria-label="Close"><span aria-hidden="true">×</span></button>
|
|
<h4 class="modal-title" id="mimDonationPopupModalTitle">
|
|
OMIM Donation:
|
|
</h4>
|
|
</div>
|
|
<div class="modal-body">
|
|
<div class="row">
|
|
<div class="col-lg-offset-1 col-md-offset-1 col-sm-offset-1 col-xs-offset-1 col-lg-10 col-md-10 col-sm-10 col-xs-10">
|
|
<p>
|
|
Dear OMIM User,
|
|
</p>
|
|
</div>
|
|
</div>
|
|
<div class="row">
|
|
<div class="col-lg-offset-1 col-md-offset-1 col-sm-offset-1 col-xs-offset-1 col-lg-10 col-md-10 col-sm-10 col-xs-10">
|
|
<p>
|
|
To ensure long-term funding for the OMIM project, we have diversified
|
|
our revenue stream. We are determined to keep this website freely
|
|
accessible. Unfortunately, it is not free to produce. Expert curators
|
|
review the literature and organize it to facilitate your work. Over 90%
|
|
of the OMIM's operating expenses go to salary support for MD and PhD
|
|
science writers and biocurators. Please join your colleagues by making a
|
|
donation now and again in the future. Donations are an important
|
|
component of our efforts to ensure long-term funding to provide you the
|
|
information that you need at your fingertips.
|
|
</p>
|
|
</div>
|
|
</div>
|
|
<div class="row">
|
|
<div class="col-lg-offset-1 col-md-offset-1 col-sm-offset-1 col-xs-offset-1 col-lg-10 col-md-10 col-sm-10 col-xs-10">
|
|
<p>
|
|
Thank you in advance for your generous support, <br />
|
|
Ada Hamosh, MD, MPH <br />
|
|
Scientific Director, OMIM <br />
|
|
</p>
|
|
</div>
|
|
</div>
|
|
</div>
|
|
<div class="modal-footer">
|
|
<button type="button" id="mimDonationPopupDonate" class="btn btn-success btn-block" data-dismiss="modal"> Donate To OMIM! </button>
|
|
</div>
|
|
</div>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
</body>
|
|
|
|
</html>
|
|
|
|
|