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Entry
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- #609322 - RHABDOID TUMOR PREDISPOSITION SYNDROME 1; RTPS1
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- OMIM
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<p>
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<span class="h4">#609322</span>
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<br />
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<strong>Table of Contents</strong>
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<a href="#title"><strong>Title</strong></a>
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<a href="/clinicalSynopsis/609322"><strong>Clinical Synopsis</strong></a>
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<a href="/phenotypicSeries/PS609322"> <strong>Phenotypic Series</strong> </a>
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<a href="#text"><strong>Text</strong></a>
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<a href="#description">Description</a>
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<a href="#clinicalFeatures">Clinical Features</a>
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<a href="#mapping">Mapping</a>
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<a href="#cytogenetics">Cytogenetics</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#seeAlso"><strong>See Also</strong></a>
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<a href="#references"><strong>References</strong></a>
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<a href="#contributors"><strong>Contributors</strong></a>
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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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<div style="display: table-cell;">External Links</div>
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</a>
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</h4>
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<div style="display: table-row">
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<div style="display: table-cell;">Clinical Resources</div>
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</a>
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<div><a href="https://clinicaltrials.gov/search?cond=RHABDOID TUMOR PREDISPOSITION SYNDROME" class="mim-tip-hint" title="A registry of federally and privately supported clinical trials conducted in the United States and around the world." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></div>
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<div><a href="#mimEuroGentestFold" id="mimEuroGentestToggle" data-toggle="collapse" class="mim-tip-hint mimTriangleToggle" title="A list of European laboratories that offer genetic testing."><span id="mimEuroGentestToggleTriangle" class="small" style="margin-left: -0.8em;">►</span>EuroGentest</div>
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<div id="mimEuroGentestFold" class="collapse">
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<div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=19153&Typ=Pat" title="Rhabdoid tumor predisposition syndrome" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">Rhabdoid tumor predisposit… </a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=10913&Typ=Pat" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">Rhabdoid tumor </a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=14539&Typ=Pat" title="Atypical teratoid rhabdoid tumor" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">Atypical teratoid rhabdoid… </a></div>
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</div>
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<div><a href="https://www.ncbi.nlm.nih.gov/books/NBK469816/" class="mim-tip-hint" title="Expert-authored, peer-reviewed descriptions of inherited disorders including the uses of genetic testing in diagnosis, management, and genetic counseling." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Gene Reviews', 'domain': 'ncbi.nlm.nih.gov'})">Gene Reviews</a></div>
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<div><a href="https://www.diseaseinfosearch.org/x/9251" 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>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=609322[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>
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<div><a href="#mimOrphanetFold" id="mimOrphanetToggle" data-toggle="collapse" class="mim-tip-hint mimTriangleToggle" title="European reference portal for information on rare diseases and orphan drugs."><span id="mimOrphanetToggleTriangle" class="small" style="margin-left: -0.8em;">►</span>Orphanet</div>
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<div id="mimOrphanetFold" class="collapse">
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<div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=231108" title="Rhabdoid tumor predisposition syndrome" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">Rhabdoid tumor predisposit…</a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=69077" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">Rhabdoid tumor</a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=99966" title="Atypical teratoid rhabdoid tumor" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">Atypical teratoid rhabdoid…</a></div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimAnimalModels">
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<span class="panel-title">
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<span class="small">
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<a href="#mimAnimalModelsLinksFold" id="mimAnimalModelsLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimAnimalModelsLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Animal Models</div>
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</a>
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.alliancegenome.org/disease/DOID:0070618" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></div>
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<div><a href="http://www.informatics.jax.org/disease/609322" class="mim-tip-hint" title="Phenotypes, alleles, and disease models from Mouse Genome Informatics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Phenotype', 'domain': 'informatics.jax.org'})">MGI Mouse Phenotype</a></div>
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<div><a href="https://wormbase.org/resources/disease/DOID:0070618" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Disease Ontology', 'domain': 'wormbase.org'})">Wormbase Disease Ontology</a></div>
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<span>
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<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.">
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<a id="title" class="mim-anchor"></a>
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<div>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>SNOMEDCT:</strong> 1156418001, 83118000<br />
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<strong>ORPHA:</strong> 231108, 69077, 99966<br />
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<strong>DO:</strong> 0070618<br />
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">ICD+</a>
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</div>
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<div>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Phenotype description, molecular basis known">
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<span class="text-danger"><strong>#</strong></span>
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609322
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</span>
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</span>
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</div>
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<div>
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<a id="preferredTitle" class="mim-anchor"></a>
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<h3>
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<span class="mim-font">
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RHABDOID TUMOR PREDISPOSITION SYNDROME 1; RTPS1
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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<div>
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<h4>
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<span class="mim-font">
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BRAIN TUMOR, POSTERIOR FOSSA, OF INFANCY, FAMILIAL
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</span>
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</h4>
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</div>
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</div>
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<div>
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<a id="includedTitles" class="mim-anchor"></a>
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<p>
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<span class="mim-font">
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Other entities represented in this entry:
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<span class="h3 mim-font">
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MALIGNANT RHABDOID TUMOR, SOMATIC, INCLUDED
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<div>
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<span class="h4 mim-font">
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RHABDOID TUMOR, INCLUDED; RDT, INCLUDED<br />
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TERATOID TUMOR, ATYPICAL, INCLUDED<br />
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AT/RT, INCLUDED
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</span>
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
|
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<a id="phenotypeMap" class="mim-anchor"></a>
|
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<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>
|
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<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/22/103?start=-3&limit=10&highlight=103">
|
|
22q11.23
|
|
</a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
{Rhabdoid tumor predisposition syndrome 1}
|
|
|
|
</span>
|
|
</td>
|
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<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/609322"> 609322 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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|
|
|
</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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|
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</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
SMARCB1
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/601607"> 601607 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/geneMap/22/103?start=-3&limit=10&highlight=103">
|
|
22q11.23
|
|
</a>
|
|
</span>
|
|
</td>
|
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<td>
|
|
<span class="mim-font">
|
|
Rhabdoid tumors, somatic
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/609322"> 609322 </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">
|
|
SMARCB1
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/601607"> 601607 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
</tbody>
|
|
</table>
|
|
</div>
|
|
</div>
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|
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<div>
|
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|
|
<div class="btn-group ">
|
|
<a href="/clinicalSynopsis/609322" 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">
|
|
|
|
<a href="/phenotypicSeries/PS609322" class="btn btn-info" role="button"> Phenotypic Series </a>
|
|
|
|
<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-info dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimPhenotypicSeriesFold" onclick="ga('send', 'event', 'Unfurl', 'PhenotypicSeries', 'omim.org')">
|
|
<span class="caret"></span>
|
|
<span class="sr-only">Toggle Dropdown</span>
|
|
</button>
|
|
</div>
|
|
|
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|
|
|
|
|
|
|
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|
|
<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/609322" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/609322" 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>
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|
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|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
|
|
<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
|
|
<div class="small" style="margin: 5px">
|
|
|
|
|
|
|
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|
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|
|
<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>
|
|
|
|
|
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|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> NEOPLASIA </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Rhabdoid tumors, malignant (renal or extrarenal) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3149726&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3149726</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/83118000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">83118000</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/1156418001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">1156418001</a>]</span><br /> -
|
|
Atypical teratoid tumors <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1836326&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1836326</a>]</span><br /> -
|
|
Choroid plexus carcinoma <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/1156471001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">1156471001</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/88252006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">88252006</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0431109&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0431109</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0030392" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0030392</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0030392" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0030392</a>]</span><br /> -
|
|
Medulloblastoma <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/1156923005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">1156923005</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/443333004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">443333004</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0025149&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0025149</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002885" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002885</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002885" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002885</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
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|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> MISCELLANEOUS </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Increased risk of developing multiple primary cancers<br /> -
|
|
Early age of onset, usually less than 3 years<br /> -
|
|
Aggressive malignancies<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 SWI/SNF-related, matrix-associated, actin-dependent regulator of chromatin, subfamily B, member 1 gene (SMARCB1, <a href="/entry/601607#0001">601607.0001</a>)<br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div class="text-right">
|
|
<a href="#mimClinicalSynopsisFold" data-toggle="collapse">▲ Close</a>
|
|
</div>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
<div id="mimPhenotypicSeriesFold" class="well well-sm collapse mimSingletonToggleFold">
|
|
<div class="small">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div class="row">
|
|
<div class="col-lg-12 col-md-12 col-sm-12 col-xs-12">
|
|
<h5>
|
|
Rhabdoid tumor predisposition syndrome
|
|
- <a href="/phenotypicSeries/PS609322">PS609322</a>
|
|
- 3 Entries
|
|
</h5>
|
|
</div>
|
|
</div>
|
|
|
|
<div class="row" style="margin-left: 0.125em; margin-right: 0.125em;">
|
|
<table class="table table-bordered table-condensed table-hover mim-table-padding">
|
|
<thead>
|
|
<tr>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Location</strong>
|
|
</th>
|
|
<th class="col-lg-5 col-md-5 col-sm-5 col-xs-6 text-nowrap">
|
|
<strong>Phenotype</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Inheritance</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Phenotype<br />mapping key</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Phenotype<br />MIM number</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Gene/Locus</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Gene/Locus<br />MIM number</strong>
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/19/287?start=-3&limit=10&highlight=287"> 19p13.2 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613325"> {Rhabdoid tumor predisposition syndrome 2} </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">
|
|
<a href="/entry/613325"> 613325 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/603254"> SMARCA4 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/603254"> 603254 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/22/103?start=-3&limit=10&highlight=103"> 22q11.23 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/609322"> {Rhabdoid tumor predisposition syndrome 1} </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">
|
|
<a href="/entry/609322"> 609322 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/601607"> SMARCB1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
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<p>A number sign (#) is used with this entry because rhabdoid tumor predisposition syndrome-1 (RTPS1) is caused by heterozygous germline mutation in the SMARCB1 gene (<a href="/entry/601607">601607</a>) on chromosome 22q11.</p><p>Somatic mutations in the SMARCB1 gene are also found in atypical teratoid and rhabdoid (AT/RT) tumors.</p>
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<p>The rhabdoid tumor predisposition syndrome is an autosomal dominant cancer syndrome predisposing to renal or extrarenal malignant rhabdoid tumors and to a variety of tumors of the central nervous system, including choroid plexus carcinoma, medulloblastoma, and central primitive neuroectodermal tumors (<a href="#12" class="mim-tip-reference" title="Sevenet, N., Sheridan, E., Amram, D., Schneider, P., Handgretinger, R., Delattre, O. <strong>Constitutional mutations of the hSNF5/INI1 gene predispose to a variety of cancers.</strong> Am. J. Hum. Genet. 65: 1342-1348, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10521299/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10521299</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=10521299[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/10.1086/302639" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10521299">Sevenet et al., 1999</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10521299" 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>Rhabdoid tumors are a highly malignant group of neoplasms that usually occur in children less than 2 years of age. Malignant rhabdoid tumors (MRTs) of the kidney were first described as a sarcomatous variant of Wilms tumors (<a href="#1" class="mim-tip-reference" title="Beckwith, J. B., Palmer, N. F. <strong>Histopathology and prognosis of Wilms tumors: results from the First National Wilms' Tumor Study.</strong> Cancer 41: 1937-1948, 1978.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/206343/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">206343</a>] [<a href="https://doi.org/10.1002/1097-0142(197805)41:5<1937::aid-cncr2820410538>3.0.co;2-u" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="206343">Beckwith and Palmer, 1978</a>). Later, extrarenal rhabdoid tumor was reported in numerous locations, including the central nervous system (CNS) (<a href="#10" class="mim-tip-reference" title="Parham, D. M., Weeks, D. A., Beckwith, J. B. <strong>The clinicopathologic spectrum of putative extrarenal rhabdoid tumors: An analysis of 42 cases studied with immunohistochemistry or electron microscopy.</strong> Am. J. Surg. Path. 18: 1010-1029, 1994. Note: Erratum: Am. J. Surg. Path. 19: 488-489, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8092393/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8092393</a>] [<a href="https://doi.org/10.1097/00000478-199410000-00005" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8092393">Parham et al., 1994</a>). Classification has been difficult because of considerable variation in the histologic and immunologic characteristics within and between rhabdoid tumors of the liver, soft tissues, and CNS. In the CNS, rhabdoid tumors may be pure rhabdoid tumors or a variant that has been designated atypical teratoid tumor (AT/RT). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=206343+8092393" 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>Genetic Heterogeneity of Rhabdoid Tumor Predisposition Syndrome</em></strong></p><p>
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See also RTPS2 (<a href="/entry/613325">613325</a>), caused by germline mutation in the SMARCA4 gene (<a href="/entry/603254">603254</a>) on chromosome 19p13.</p>
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<p><a href="#5" class="mim-tip-reference" title="Bonnin, J. M., Rubinstein, L. J., Palmer, N. F., Beckwith, J. B. <strong>The association of embryonal tumors originating in the kidney and in the brain: a report of seven cases.</strong> Cancer 54: 2137-2146, 1984.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6091860/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6091860</a>] [<a href="https://doi.org/10.1002/1097-0142(19841115)54:10<2137::aid-cncr2820541014>3.0.co;2-d" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6091860">Bonnin et al. (1984)</a> described 7 patients with rhabdoid tumors of the kidney who had CNS tumors that differed in their histology. <a href="#16" class="mim-tip-reference" title="Weeks, D. A., Beckwith, J. B., Mierau, G. W., Luckey, D. W. <strong>Rhabdoid tumor of kidney: a report of 111 cases from the National Wilms' Tumor Study Pathology Center.</strong> Am. J. Surg. Path. 13: 439-458, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2543225/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2543225</a>]" pmid="2543225">Weeks et al. (1989)</a> reported on a series of 111 cases of which 13.5% with renal rhabdoid tumors had a CNS malignancy. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=6091860+2543225" 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="#6" class="mim-tip-reference" title="Burger, P. C., Yu, I.-T., Tihan, T., Friedman, H. S., Strother, D. R., Kepner, J. L., Duffner, P. K., Kun, L. E., Perlman, E. J. <strong>Atypical teratoid/rhabdoid tumor of the central nervous system: a highly malignant tumor of infancy and childhood frequently mistaken for medulloblastoma: a pediatric oncology group study.</strong> Am. J. Surg. Path. 22: 1083-1092, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9737241/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9737241</a>] [<a href="https://doi.org/10.1097/00000478-199809000-00007" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9737241">Burger et al. (1998)</a> reported on a pediatric oncology group study of 55 patients with atypical teratoid/rhabdoid tumors of the central nervous system. The aim of the study was to define the clinical and pathologic features. The lesion occurred primarily in children younger than 2 years. The neoplasms were located in the posterior fossa (36 patients) and the supratentorial compartment (17 patients) or were multifocal in both compartments (2 patients) at presentation. Histologically, the tumors were composed of small cells and large, pale cells in a jumbled architectural arrangement. The small cell component resembled medulloblastoma and occasionally had cords of cells in a mucinous background, simulating chordoma. The cytoplasm of the larger cells was conspicuous with a somewhat 'rhabdoid' appearance, although rhabdoid features were not always prominent. The neoplasms showed striking polyphenotypic immunoreactivity. In contrast to patients with medulloblastoma, the neoplasm with which these lesions are often confused, the outcome of patients was uniformly poor. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9737241" 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="#12" class="mim-tip-reference" title="Sevenet, N., Sheridan, E., Amram, D., Schneider, P., Handgretinger, R., Delattre, O. <strong>Constitutional mutations of the hSNF5/INI1 gene predispose to a variety of cancers.</strong> Am. J. Hum. Genet. 65: 1342-1348, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10521299/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10521299</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=10521299[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/10.1086/302639" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10521299">Sevenet et al. (1999)</a> reported 3 unrelated families in which sibs had multiple cases of aggressive malignant tumors of the central nervous system, including malignant rhabdoid tumors, atypical teratoid and rhabdoid tumors, choroid plexus carcinomas, and medulloblastoma. All had onset at less than 3 years of age. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10521299" 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="#14" class="mim-tip-reference" title="Taylor, M. D., Gokgoz, N., Andrulis, I. L., Mainprize, T. G., Drake, J. M., Rutka, J. T. <strong>Familial posterior fossa brain tumors of infancy secondary to germline mutation of the hSNF5 gene.</strong> Am. J. Hum. Genet. 66: 1403-1406, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10739763/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10739763</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=10739763[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/10.1086/302833" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10739763">Taylor et al. (2000)</a> reported a multigenerational family with RTPS. The proband presented at age 18 months with a cerebellar malignant rhabdoid tumor. The mother of the proband was completely healthy, but a maternal uncle had died at age 2 years from a posterior fossa choroid plexus carcinoma. A sib of the maternal grandfather had died in infancy from a disease process consistent with a pediatric brain tumor. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10739763" 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="Swensen, J. J., Keyser, J., Coffin, C. M., Biegel, J. A., Viskochil, D. H., Williams, M. S. <strong>Familial occurrence of schwannomas and malignant rhabdoid tumour associated with a duplication in SMARCB1.</strong> J. Med. Genet. 46: 68-72, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19124645/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19124645</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19124645[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/10.1136/jmg.2008.060152" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19124645">Swensen et al. (2009)</a> reported a family with hereditary schwannomatosis (<a href="/entry/162091">162091</a>) spanning 4 generations associated with a germline duplication in the SMARCB1 gene (<a href="/entry/601607#0009">601607.0009</a>). Affected individuals developed painful skin lumps in their teenage years. Two family members with mutations had malignant rhabdoid tumors, and a third was believed to have a rhabdoid tumor. These 3 patients all died before 2 years of age. Two rhabdoid tumors and several schwannomas showed somatic loss of the SMARCB1 gene. <a href="#13" class="mim-tip-reference" title="Swensen, J. J., Keyser, J., Coffin, C. M., Biegel, J. A., Viskochil, D. H., Williams, M. S. <strong>Familial occurrence of schwannomas and malignant rhabdoid tumour associated with a duplication in SMARCB1.</strong> J. Med. Genet. 46: 68-72, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19124645/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19124645</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19124645[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/10.1136/jmg.2008.060152" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19124645">Swensen et al. (2009)</a> noted that this was the first reported case of familial occurrence of both conditions. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19124645" 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>
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<p><a href="#2" class="mim-tip-reference" title="Biegel, J. A., Allen, C. S., Kawasaki, K., Shimizu, N., Budarf, M. L., Bell, C. J. <strong>Narrowing the critical region for a rhabdoid tumor locus in 22q11.</strong> Genes Chromosomes Cancer 16: 94-105, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8818656/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8818656</a>] [<a href="https://doi.org/10.1002/(SICI)1098-2264(199606)16:2<94::AID-GCC3>3.0.CO;2-Y" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8818656">Biegel et al. (1996)</a> sublocalized a rhabdoid tumor locus to the region between the constant region genes of the immunoglobulin lambda locus (see <a href="/entry/147220">147220</a>) and BCR (<a href="/entry/151410">151410</a>) in a 500-kb span of 22q11. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8818656" 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>
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<p><a href="#4" class="mim-tip-reference" title="Biegel, J. A., Rorke, L. B., Packer, R. J., Emanuel, B. S. <strong>Monosomy 22 in rhabdoid or atypical tumors of the brain.</strong> J. Neurosurg. 73: 710-714, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2213160/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2213160</a>] [<a href="https://doi.org/10.3171/jns.1990.73.5.0710" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2213160">Biegel et al. (1990)</a> described monosomy 22 in 3 rhabdoid tumors of the CNS, and <a href="#3" class="mim-tip-reference" title="Biegel, J. A., Burk, C. D., Parmiter, A. H., Emanuel, B. S. <strong>Molecular analysis of a partial deletion of 22q in a central nervous system rhabdoid tumor.</strong> Genes Chromosomes Cancer 5: 104-108, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1381945/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1381945</a>] [<a href="https://doi.org/10.1002/gcc.2870050203" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1381945">Biegel et al. (1992)</a> reported a rhabdoid tumor with an unbalanced 9;22 translocation leading to loss of 22q11.2-qter. <a href="#7" class="mim-tip-reference" title="Douglass, E. C., Valentine, M., Rowe, S. T., Parham, D. M., Wilimas, J. A., Sanders, J. M., Houghton, P. J. <strong>Malignant rhabdoid tumor: a highly malignant childhood tumor with minimal karyotypic changes.</strong> Genes Chromosomes Cancer 2: 210-216, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1964081/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1964081</a>] [<a href="https://doi.org/10.1002/gcc.2870020308" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1964081">Douglass et al. (1990)</a> reported a CNS tumor with monosomy 22; <a href="#9" class="mim-tip-reference" title="Muller, M., Hubbard, S. L., Fukuyama, K., Dirks, P., Matsuzawa, K., Rutka, J. T. <strong>Characterization of a pineal region malignant rhabdoid tumor.</strong> Pediat. Neurosurg. 22: 204-209, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7619721/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7619721</a>] [<a href="https://doi.org/10.1159/000120902" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7619721">Muller et al. (1995)</a> reported on a rhabdoid tumor of the pineal region with monosomy 22. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1381945+1964081+2213160+7619721" 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>Using a probe for chromosome 22, <a href="#6" class="mim-tip-reference" title="Burger, P. C., Yu, I.-T., Tihan, T., Friedman, H. S., Strother, D. R., Kepner, J. L., Duffner, P. K., Kun, L. E., Perlman, E. J. <strong>Atypical teratoid/rhabdoid tumor of the central nervous system: a highly malignant tumor of infancy and childhood frequently mistaken for medulloblastoma: a pediatric oncology group study.</strong> Am. J. Surg. Path. 22: 1083-1092, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9737241/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9737241</a>] [<a href="https://doi.org/10.1097/00000478-199809000-00007" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9737241">Burger et al. (1998)</a> found that 7 of 8 scorable cases of atypical teratoid/rhabdoid tumors of the CNS showed a solitary signal by FISH, consistent with monosomy 22. The eighth scorable case showed 3 signals by FISH and had a translocation involving chromosome 22 reported by conventional cytogenetics. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9737241" 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="Misawa, A., Hosoi, H., Imoto, I., Iehara, T., Sugimoto, T., Inazawa, J. <strong>Translocation (1;22)(p36;q11.2) with concurrent del(22)(q11.2) resulted in homozygous deletion of SNF5/INI1 in a newly established cell line derived from extrarenal rhabdoid tumor.</strong> J. Hum. Genet. 49: 586-589, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15378398/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15378398</a>] [<a href="https://doi.org/10.1007/s10038-004-0191-y" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15378398">Misawa et al. (2004)</a> observed a translocation t(1;22) with concurrent deletion of 22q11.2 resulting in homozygous deletion of the SNF5 (SMARCB1) gene in a newly established cell line derived from an extrarenal rhabdoid tumor. The patient was a 5-month-old boy who was found to have a thoracic mass without metastases at the time of diagnosis. Cytogenetic analysis of peripheral lymphocytes demonstrated a normal male karyotype. Combined total resection, chemotherapy, and radiation therapy led to apparent cure by the age of 4 years. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15378398" 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>
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<p><strong><em>Germline Mutations in the SMARCB1 Gene</em></strong></p><p>
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In affected members of 3 different families with the rhabdoid predisposition syndrome, <a href="#12" class="mim-tip-reference" title="Sevenet, N., Sheridan, E., Amram, D., Schneider, P., Handgretinger, R., Delattre, O. <strong>Constitutional mutations of the hSNF5/INI1 gene predispose to a variety of cancers.</strong> Am. J. Hum. Genet. 65: 1342-1348, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10521299/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10521299</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=10521299[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/10.1086/302639" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10521299">Sevenet et al. (1999)</a> identified heterozygous germline loss-of-function mutations in the SMARCB1 gene (see, e.g., <a href="/entry/601607#0003">601607.0003</a>). Tumor tissue, when available, showed somatic loss of heterozygosity (LOH) at the SMARCB1 locus. In all tested cases, DNA from parents demonstrated normal SNF5/INI1 sequences, thereby indicating the de novo occurrence of the mutations, which were shown to involve the maternal allele in 1 case and the paternal allele in 2 other cases. The data indicated that constitutional mutation of this gene predisposes to renal or extrarenal MRT and also to a variety of tumors of the CNS, including choroid plexus carcinoma, medulloblastoma, and central primitive neuroectodermal tumor. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10521299" 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 a multigenerational family with RTPS, <a href="#14" class="mim-tip-reference" title="Taylor, M. D., Gokgoz, N., Andrulis, I. L., Mainprize, T. G., Drake, J. M., Rutka, J. T. <strong>Familial posterior fossa brain tumors of infancy secondary to germline mutation of the hSNF5 gene.</strong> Am. J. Hum. Genet. 66: 1403-1406, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10739763/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10739763</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=10739763[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/10.1086/302833" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10739763">Taylor et al. (2000)</a> identified a heterozygous splice site mutation of the SMARCB1 gene (<a href="/entry/601607#0004">601607.0004</a>), predicted to cause a truncation of the protein. The unaffected mother of the proband also carried the mutation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10739763" 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 in the SMARCB1 Gene</em></strong></p><p>
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<a href="#15" class="mim-tip-reference" title="Versteege, I., Sevenet, N., Lange, J., Rousseau-Merck, M.-F., Ambros, P., Handgretinger, R., Aurias, A., Delattre, O. <strong>Truncating mutations of hSNF5/INI1 in aggressive paediatric cancer.</strong> Nature 394: 203-206, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9671307/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9671307</a>] [<a href="https://doi.org/10.1038/28212" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9671307">Versteege et al. (1998)</a> mapped the most frequently deleted part of chromosome 22q11.2 from a panel of 13 cell lines from malignant rhabdoid tumors and observed 6 homozygous deletions that delineated the smallest region of overlap, which fell in the region of the SNF5/INI1 gene. Analysis of 12 of these lines showed somatic frameshift or nonsense mutations in the SMARCB1 gene (see, e.g., <a href="/entry/601607#0001">601607.0001</a>; <a href="/entry/601607#0002">601607.0002</a>). All were associated with loss of heterozygosity (LOH) at the other allele, consistent with the 2-hit recessive model of oncogenesis and consistent with the hypothesis that SNF5/INI1 is the MRT tumor suppressor gene. <a href="#15" class="mim-tip-reference" title="Versteege, I., Sevenet, N., Lange, J., Rousseau-Merck, M.-F., Ambros, P., Handgretinger, R., Aurias, A., Delattre, O. <strong>Truncating mutations of hSNF5/INI1 in aggressive paediatric cancer.</strong> Nature 394: 203-206, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9671307/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9671307</a>] [<a href="https://doi.org/10.1038/28212" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9671307">Versteege et al. (1998)</a> noted that the SWI/SNF complexes, which have been identified in organisms from yeast to humans, are thought to be important in the remodeling of chromatin structure, and the authors concluded that altered chromatin organization at specific DNA sites may be crucial in the process of oncogenesis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9671307" 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>
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<a href="#Parham1995" class="mim-tip-reference" title="Parham, D. M. <strong>An inaccuracy. (Letter)</strong> Am. J. Surg. Path. 19: 448-489, 1995.">Parham (1995)</a>
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Beckwith, J. B., Palmer, N. F.
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<strong>Histopathology and prognosis of Wilms tumors: results from the First National Wilms' Tumor Study.</strong>
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Cancer 41: 1937-1948, 1978.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/206343/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">206343</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=206343" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/1097-0142(197805)41:5<1937::aid-cncr2820410538>3.0.co;2-u" target="_blank">Full Text</a>]
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Biegel, J. A., Allen, C. S., Kawasaki, K., Shimizu, N., Budarf, M. L., Bell, C. J.
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<strong>Narrowing the critical region for a rhabdoid tumor locus in 22q11.</strong>
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Genes Chromosomes Cancer 16: 94-105, 1996.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8818656/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8818656</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8818656" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/(SICI)1098-2264(199606)16:2<94::AID-GCC3>3.0.CO;2-Y" target="_blank">Full Text</a>]
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Biegel, J. A., Burk, C. D., Parmiter, A. H., Emanuel, B. S.
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<strong>Molecular analysis of a partial deletion of 22q in a central nervous system rhabdoid tumor.</strong>
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Genes Chromosomes Cancer 5: 104-108, 1992.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1381945/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1381945</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1381945" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/gcc.2870050203" target="_blank">Full Text</a>]
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Biegel, J. A., Rorke, L. B., Packer, R. J., Emanuel, B. S.
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<strong>Monosomy 22 in rhabdoid or atypical tumors of the brain.</strong>
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J. Neurosurg. 73: 710-714, 1990.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2213160/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2213160</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2213160" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.3171/jns.1990.73.5.0710" target="_blank">Full Text</a>]
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Bonnin, J. M., Rubinstein, L. J., Palmer, N. F., Beckwith, J. B.
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<strong>The association of embryonal tumors originating in the kidney and in the brain: a report of seven cases.</strong>
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Cancer 54: 2137-2146, 1984.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6091860/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6091860</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6091860" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/1097-0142(19841115)54:10<2137::aid-cncr2820541014>3.0.co;2-d" target="_blank">Full Text</a>]
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Burger, P. C., Yu, I.-T., Tihan, T., Friedman, H. S., Strother, D. R., Kepner, J. L., Duffner, P. K., Kun, L. E., Perlman, E. J.
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<strong>Atypical teratoid/rhabdoid tumor of the central nervous system: a highly malignant tumor of infancy and childhood frequently mistaken for medulloblastoma: a pediatric oncology group study.</strong>
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Am. J. Surg. Path. 22: 1083-1092, 1998.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9737241/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9737241</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9737241" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1097/00000478-199809000-00007" target="_blank">Full Text</a>]
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<a id="7" class="mim-anchor"></a>
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<a id="Douglass1990" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Douglass, E. C., Valentine, M., Rowe, S. T., Parham, D. M., Wilimas, J. A., Sanders, J. M., Houghton, P. J.
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<strong>Malignant rhabdoid tumor: a highly malignant childhood tumor with minimal karyotypic changes.</strong>
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Genes Chromosomes Cancer 2: 210-216, 1990.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1964081/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1964081</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1964081" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/gcc.2870020308" target="_blank">Full Text</a>]
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</p>
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</div>
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<li>
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<a id="8" class="mim-anchor"></a>
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<a id="Misawa2004" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Misawa, A., Hosoi, H., Imoto, I., Iehara, T., Sugimoto, T., Inazawa, J.
|
|
<strong>Translocation (1;22)(p36;q11.2) with concurrent del(22)(q11.2) resulted in homozygous deletion of SNF5/INI1 in a newly established cell line derived from extrarenal rhabdoid tumor.</strong>
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J. Hum. Genet. 49: 586-589, 2004.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15378398/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15378398</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15378398" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1007/s10038-004-0191-y" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="9" class="mim-anchor"></a>
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<a id="Muller1995" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Muller, M., Hubbard, S. L., Fukuyama, K., Dirks, P., Matsuzawa, K., Rutka, J. T.
|
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<strong>Characterization of a pineal region malignant rhabdoid tumor.</strong>
|
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Pediat. Neurosurg. 22: 204-209, 1995.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7619721/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7619721</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7619721" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1159/000120902" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="10" class="mim-anchor"></a>
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<a id="Parham1994" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Parham, D. M., Weeks, D. A., Beckwith, J. B.
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<strong>The clinicopathologic spectrum of putative extrarenal rhabdoid tumors: An analysis of 42 cases studied with immunohistochemistry or electron microscopy.</strong>
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Am. J. Surg. Path. 18: 1010-1029, 1994. Note: Erratum: Am. J. Surg. Path. 19: 488-489, 1995.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8092393/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8092393</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8092393" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1097/00000478-199410000-00005" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="11" class="mim-anchor"></a>
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<a id="Parham1995" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Parham, D. M.
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<strong>An inaccuracy. (Letter)</strong>
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Am. J. Surg. Path. 19: 448-489, 1995.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7694946/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7694946</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7694946" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1097/00000478-199504000-00006" target="_blank">Full Text</a>]
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<li>
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<a id="12" class="mim-anchor"></a>
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<a id="Sevenet1999" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Sevenet, N., Sheridan, E., Amram, D., Schneider, P., Handgretinger, R., Delattre, O.
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<strong>Constitutional mutations of the hSNF5/INI1 gene predispose to a variety of cancers.</strong>
|
|
Am. J. Hum. Genet. 65: 1342-1348, 1999.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10521299/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10521299</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=10521299[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=10521299" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1086/302639" target="_blank">Full Text</a>]
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</p>
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</div>
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<li>
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<a id="13" class="mim-anchor"></a>
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<a id="Swensen2009" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Swensen, J. J., Keyser, J., Coffin, C. M., Biegel, J. A., Viskochil, D. H., Williams, M. S.
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<strong>Familial occurrence of schwannomas and malignant rhabdoid tumour associated with a duplication in SMARCB1.</strong>
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J. Med. Genet. 46: 68-72, 2009.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19124645/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19124645</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19124645[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=19124645" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1136/jmg.2008.060152" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="14" class="mim-anchor"></a>
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<a id="Taylor2000" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Taylor, M. D., Gokgoz, N., Andrulis, I. L., Mainprize, T. G., Drake, J. M., Rutka, J. T.
|
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<strong>Familial posterior fossa brain tumors of infancy secondary to germline mutation of the hSNF5 gene.</strong>
|
|
Am. J. Hum. Genet. 66: 1403-1406, 2000.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10739763/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10739763</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=10739763[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=10739763" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1086/302833" target="_blank">Full Text</a>]
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</p>
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</div>
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<li>
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<a id="15" class="mim-anchor"></a>
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<a id="Versteege1998" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Versteege, I., Sevenet, N., Lange, J., Rousseau-Merck, M.-F., Ambros, P., Handgretinger, R., Aurias, A., Delattre, O.
|
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<strong>Truncating mutations of hSNF5/INI1 in aggressive paediatric cancer.</strong>
|
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Nature 394: 203-206, 1998.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9671307/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9671307</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9671307" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/28212" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="16" class="mim-anchor"></a>
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<a id="Weeks1989" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Weeks, D. A., Beckwith, J. B., Mierau, G. W., Luckey, D. W.
|
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<strong>Rhabdoid tumor of kidney: a report of 111 cases from the National Wilms' Tumor Study Pathology Center.</strong>
|
|
Am. J. Surg. Path. 13: 439-458, 1989.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2543225/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2543225</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2543225" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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</p>
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</div>
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</li>
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</ol>
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<div>
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<br />
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</div>
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</div>
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</div>
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<div>
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<a id="contributors" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="mim-text-font">
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
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<span class="mim-text-font">
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Cassandra L. Kniffin - updated : 3/24/2010
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</span>
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</div>
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</div>
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<div class="row collapse" id="mimCollapseContributors">
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<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">
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<span class="mim-text-font">
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Cassandra L. Kniffin - updated : 2/13/2009
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</span>
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</div>
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</div>
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</div>
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<div>
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<a id="creationDate" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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Creation Date:
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
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<span class="mim-text-font">
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Victor A. McKusick : 4/21/2005
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</span>
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</div>
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</div>
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</div>
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<div>
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<a id="editHistory" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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alopez : 03/24/2020
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</span>
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</div>
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</div>
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<div class="row collapse" id="mimCollapseEditHistory">
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<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">
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<span class="mim-text-font">
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carol : 01/17/2018<br>carol : 03/15/2013<br>carol : 6/8/2011<br>carol : 3/25/2010<br>ckniffin : 3/25/2010<br>ckniffin : 3/24/2010<br>wwang : 6/1/2009<br>ckniffin : 2/13/2009<br>mgross : 4/21/2005
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</span>
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</div>
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</div>
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</div>
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<div class="container visible-print-block">
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<div>
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<div>
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<h3>
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<span class="mim-font">
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<strong>#</strong> 609322
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</span>
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</h3>
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</div>
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<div>
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<h3>
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<span class="mim-font">
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RHABDOID TUMOR PREDISPOSITION SYNDROME 1; RTPS1
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</span>
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</h3>
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</div>
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<div>
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<br />
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<div>
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<div >
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
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BRAIN TUMOR, POSTERIOR FOSSA, OF INFANCY, FAMILIAL
|
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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<div>
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<div>
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<p>
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<span class="mim-font">
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Other entities represented in this entry:
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</span>
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</p>
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</div>
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<div>
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<span class="h3 mim-font">
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MALIGNANT RHABDOID TUMOR, SOMATIC, INCLUDED
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</span>
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</div>
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<div>
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<span class="h4 mim-font">
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RHABDOID TUMOR, INCLUDED; RDT, INCLUDED<br />
|
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TERATOID TUMOR, ATYPICAL, INCLUDED<br />
|
|
AT/RT, INCLUDED
|
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</span>
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<p>
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<span class="mim-text-font">
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<strong>SNOMEDCT:</strong> 1156418001, 83118000;
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<strong>ORPHA:</strong> 231108, 69077, 99966;
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<strong>DO:</strong> 0070618;
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
|
<strong>Phenotype-Gene Relationships</strong>
|
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</span>
|
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</h4>
|
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<div>
|
|
<table class="table table-bordered table-condensed small mim-table-padding">
|
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<thead>
|
|
<tr class="active">
|
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<th>
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|
Location
|
|
</th>
|
|
<th>
|
|
Phenotype
|
|
</th>
|
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<th>
|
|
Phenotype <br /> MIM number
|
|
</th>
|
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<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
|
<th>
|
|
Gene/Locus
|
|
</th>
|
|
<th>
|
|
Gene/Locus <br /> MIM number
|
|
</th>
|
|
</tr>
|
|
</thead>
|
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<tbody>
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<tr>
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<td>
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<span class="mim-font">
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22q11.23
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</span>
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</td>
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<td>
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<span class="mim-font">
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{Rhabdoid tumor predisposition syndrome 1}
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</span>
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</td>
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<td>
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<span class="mim-font">
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609322
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</span>
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</td>
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<td>
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<span class="mim-font">
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Autosomal dominant
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</span>
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</td>
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<td>
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<span class="mim-font">
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3
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</span>
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</td>
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<td>
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<span class="mim-font">
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SMARCB1
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</span>
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</td>
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<td>
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<span class="mim-font">
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601607
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</span>
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</td>
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</tr>
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<tr>
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<td>
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<span class="mim-font">
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22q11.23
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</span>
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</td>
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<td>
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<span class="mim-font">
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Rhabdoid tumors, somatic
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</span>
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</td>
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<td>
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<span class="mim-font">
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609322
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</span>
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</td>
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<td>
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<span class="mim-font">
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</span>
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</td>
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<td>
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<span class="mim-font">
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3
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</span>
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</td>
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<td>
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<span class="mim-font">
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SMARCB1
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</span>
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</td>
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<td>
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<span class="mim-font">
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601607
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>TEXT</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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<p>A number sign (#) is used with this entry because rhabdoid tumor predisposition syndrome-1 (RTPS1) is caused by heterozygous germline mutation in the SMARCB1 gene (601607) on chromosome 22q11.</p><p>Somatic mutations in the SMARCB1 gene are also found in atypical teratoid and rhabdoid (AT/RT) tumors.</p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Description</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>The rhabdoid tumor predisposition syndrome is an autosomal dominant cancer syndrome predisposing to renal or extrarenal malignant rhabdoid tumors and to a variety of tumors of the central nervous system, including choroid plexus carcinoma, medulloblastoma, and central primitive neuroectodermal tumors (Sevenet et al., 1999). </p><p>Rhabdoid tumors are a highly malignant group of neoplasms that usually occur in children less than 2 years of age. Malignant rhabdoid tumors (MRTs) of the kidney were first described as a sarcomatous variant of Wilms tumors (Beckwith and Palmer, 1978). Later, extrarenal rhabdoid tumor was reported in numerous locations, including the central nervous system (CNS) (Parham et al., 1994). Classification has been difficult because of considerable variation in the histologic and immunologic characteristics within and between rhabdoid tumors of the liver, soft tissues, and CNS. In the CNS, rhabdoid tumors may be pure rhabdoid tumors or a variant that has been designated atypical teratoid tumor (AT/RT). </p><p><strong><em>Genetic Heterogeneity of Rhabdoid Tumor Predisposition Syndrome</em></strong></p><p>
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See also RTPS2 (613325), caused by germline mutation in the SMARCA4 gene (603254) on chromosome 19p13.</p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Clinical Features</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Bonnin et al. (1984) described 7 patients with rhabdoid tumors of the kidney who had CNS tumors that differed in their histology. Weeks et al. (1989) reported on a series of 111 cases of which 13.5% with renal rhabdoid tumors had a CNS malignancy. </p><p>Burger et al. (1998) reported on a pediatric oncology group study of 55 patients with atypical teratoid/rhabdoid tumors of the central nervous system. The aim of the study was to define the clinical and pathologic features. The lesion occurred primarily in children younger than 2 years. The neoplasms were located in the posterior fossa (36 patients) and the supratentorial compartment (17 patients) or were multifocal in both compartments (2 patients) at presentation. Histologically, the tumors were composed of small cells and large, pale cells in a jumbled architectural arrangement. The small cell component resembled medulloblastoma and occasionally had cords of cells in a mucinous background, simulating chordoma. The cytoplasm of the larger cells was conspicuous with a somewhat 'rhabdoid' appearance, although rhabdoid features were not always prominent. The neoplasms showed striking polyphenotypic immunoreactivity. In contrast to patients with medulloblastoma, the neoplasm with which these lesions are often confused, the outcome of patients was uniformly poor. </p><p>Sevenet et al. (1999) reported 3 unrelated families in which sibs had multiple cases of aggressive malignant tumors of the central nervous system, including malignant rhabdoid tumors, atypical teratoid and rhabdoid tumors, choroid plexus carcinomas, and medulloblastoma. All had onset at less than 3 years of age. </p><p>Taylor et al. (2000) reported a multigenerational family with RTPS. The proband presented at age 18 months with a cerebellar malignant rhabdoid tumor. The mother of the proband was completely healthy, but a maternal uncle had died at age 2 years from a posterior fossa choroid plexus carcinoma. A sib of the maternal grandfather had died in infancy from a disease process consistent with a pediatric brain tumor. </p><p>Swensen et al. (2009) reported a family with hereditary schwannomatosis (162091) spanning 4 generations associated with a germline duplication in the SMARCB1 gene (601607.0009). Affected individuals developed painful skin lumps in their teenage years. Two family members with mutations had malignant rhabdoid tumors, and a third was believed to have a rhabdoid tumor. These 3 patients all died before 2 years of age. Two rhabdoid tumors and several schwannomas showed somatic loss of the SMARCB1 gene. Swensen et al. (2009) noted that this was the first reported case of familial occurrence of both conditions. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Mapping</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Biegel et al. (1996) sublocalized a rhabdoid tumor locus to the region between the constant region genes of the immunoglobulin lambda locus (see 147220) and BCR (151410) in a 500-kb span of 22q11. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Cytogenetics</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Biegel et al. (1990) described monosomy 22 in 3 rhabdoid tumors of the CNS, and Biegel et al. (1992) reported a rhabdoid tumor with an unbalanced 9;22 translocation leading to loss of 22q11.2-qter. Douglass et al. (1990) reported a CNS tumor with monosomy 22; Muller et al. (1995) reported on a rhabdoid tumor of the pineal region with monosomy 22. </p><p>Using a probe for chromosome 22, Burger et al. (1998) found that 7 of 8 scorable cases of atypical teratoid/rhabdoid tumors of the CNS showed a solitary signal by FISH, consistent with monosomy 22. The eighth scorable case showed 3 signals by FISH and had a translocation involving chromosome 22 reported by conventional cytogenetics. </p><p>Misawa et al. (2004) observed a translocation t(1;22) with concurrent deletion of 22q11.2 resulting in homozygous deletion of the SNF5 (SMARCB1) gene in a newly established cell line derived from an extrarenal rhabdoid tumor. The patient was a 5-month-old boy who was found to have a thoracic mass without metastases at the time of diagnosis. Cytogenetic analysis of peripheral lymphocytes demonstrated a normal male karyotype. Combined total resection, chemotherapy, and radiation therapy led to apparent cure by the age of 4 years. </p>
|
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
|
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<strong>Molecular Genetics</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
|
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<p><strong><em>Germline Mutations in the SMARCB1 Gene</em></strong></p><p>
|
|
In affected members of 3 different families with the rhabdoid predisposition syndrome, Sevenet et al. (1999) identified heterozygous germline loss-of-function mutations in the SMARCB1 gene (see, e.g., 601607.0003). Tumor tissue, when available, showed somatic loss of heterozygosity (LOH) at the SMARCB1 locus. In all tested cases, DNA from parents demonstrated normal SNF5/INI1 sequences, thereby indicating the de novo occurrence of the mutations, which were shown to involve the maternal allele in 1 case and the paternal allele in 2 other cases. The data indicated that constitutional mutation of this gene predisposes to renal or extrarenal MRT and also to a variety of tumors of the CNS, including choroid plexus carcinoma, medulloblastoma, and central primitive neuroectodermal tumor. </p><p>In a multigenerational family with RTPS, Taylor et al. (2000) identified a heterozygous splice site mutation of the SMARCB1 gene (601607.0004), predicted to cause a truncation of the protein. The unaffected mother of the proband also carried the mutation. </p><p><strong><em>Somatic Mutations in the SMARCB1 Gene</em></strong></p><p>
|
|
Versteege et al. (1998) mapped the most frequently deleted part of chromosome 22q11.2 from a panel of 13 cell lines from malignant rhabdoid tumors and observed 6 homozygous deletions that delineated the smallest region of overlap, which fell in the region of the SNF5/INI1 gene. Analysis of 12 of these lines showed somatic frameshift or nonsense mutations in the SMARCB1 gene (see, e.g., 601607.0001; 601607.0002). All were associated with loss of heterozygosity (LOH) at the other allele, consistent with the 2-hit recessive model of oncogenesis and consistent with the hypothesis that SNF5/INI1 is the MRT tumor suppressor gene. Versteege et al. (1998) noted that the SWI/SNF complexes, which have been identified in organisms from yeast to humans, are thought to be important in the remodeling of chromatin structure, and the authors concluded that altered chromatin organization at specific DNA sites may be crucial in the process of oncogenesis. </p>
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</span>
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<div>
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<br />
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</div>
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
|
<strong>See Also:</strong>
|
|
</span>
|
|
</h4>
|
|
<span class="mim-text-font">
|
|
Parham (1995)
|
|
</span>
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<div>
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<br />
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</div>
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</div>
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<div>
|
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<h4>
|
|
<span class="mim-font">
|
|
<strong>REFERENCES</strong>
|
|
</span>
|
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</h4>
|
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<div>
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<p />
|
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</div>
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<div>
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<ol>
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<li>
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<p class="mim-text-font">
|
|
Beckwith, J. B., Palmer, N. F.
|
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<strong>Histopathology and prognosis of Wilms tumors: results from the First National Wilms' Tumor Study.</strong>
|
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Cancer 41: 1937-1948, 1978.
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[PubMed: 206343]
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[Full Text: https://doi.org/10.1002/1097-0142(197805)41:5<1937::aid-cncr2820410538>3.0.co;2-u]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Biegel, J. A., Allen, C. S., Kawasaki, K., Shimizu, N., Budarf, M. L., Bell, C. J.
|
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<strong>Narrowing the critical region for a rhabdoid tumor locus in 22q11.</strong>
|
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Genes Chromosomes Cancer 16: 94-105, 1996.
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[PubMed: 8818656]
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[Full Text: https://doi.org/10.1002/(SICI)1098-2264(199606)16:2<94::AID-GCC3>3.0.CO;2-Y]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Biegel, J. A., Burk, C. D., Parmiter, A. H., Emanuel, B. S.
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<strong>Molecular analysis of a partial deletion of 22q in a central nervous system rhabdoid tumor.</strong>
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Genes Chromosomes Cancer 5: 104-108, 1992.
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[PubMed: 1381945]
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[Full Text: https://doi.org/10.1002/gcc.2870050203]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Biegel, J. A., Rorke, L. B., Packer, R. J., Emanuel, B. S.
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<strong>Monosomy 22 in rhabdoid or atypical tumors of the brain.</strong>
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J. Neurosurg. 73: 710-714, 1990.
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[PubMed: 2213160]
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[Full Text: https://doi.org/10.3171/jns.1990.73.5.0710]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Bonnin, J. M., Rubinstein, L. J., Palmer, N. F., Beckwith, J. B.
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<strong>The association of embryonal tumors originating in the kidney and in the brain: a report of seven cases.</strong>
|
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Cancer 54: 2137-2146, 1984.
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[PubMed: 6091860]
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[Full Text: https://doi.org/10.1002/1097-0142(19841115)54:10<2137::aid-cncr2820541014>3.0.co;2-d]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Burger, P. C., Yu, I.-T., Tihan, T., Friedman, H. S., Strother, D. R., Kepner, J. L., Duffner, P. K., Kun, L. E., Perlman, E. J.
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<strong>Atypical teratoid/rhabdoid tumor of the central nervous system: a highly malignant tumor of infancy and childhood frequently mistaken for medulloblastoma: a pediatric oncology group study.</strong>
|
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Am. J. Surg. Path. 22: 1083-1092, 1998.
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[PubMed: 9737241]
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[Full Text: https://doi.org/10.1097/00000478-199809000-00007]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
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Douglass, E. C., Valentine, M., Rowe, S. T., Parham, D. M., Wilimas, J. A., Sanders, J. M., Houghton, P. J.
|
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<strong>Malignant rhabdoid tumor: a highly malignant childhood tumor with minimal karyotypic changes.</strong>
|
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Genes Chromosomes Cancer 2: 210-216, 1990.
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[PubMed: 1964081]
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[Full Text: https://doi.org/10.1002/gcc.2870020308]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
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Misawa, A., Hosoi, H., Imoto, I., Iehara, T., Sugimoto, T., Inazawa, J.
|
|
<strong>Translocation (1;22)(p36;q11.2) with concurrent del(22)(q11.2) resulted in homozygous deletion of SNF5/INI1 in a newly established cell line derived from extrarenal rhabdoid tumor.</strong>
|
|
J. Hum. Genet. 49: 586-589, 2004.
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[PubMed: 15378398]
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[Full Text: https://doi.org/10.1007/s10038-004-0191-y]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
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Muller, M., Hubbard, S. L., Fukuyama, K., Dirks, P., Matsuzawa, K., Rutka, J. T.
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<strong>Characterization of a pineal region malignant rhabdoid tumor.</strong>
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Pediat. Neurosurg. 22: 204-209, 1995.
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[PubMed: 7619721]
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[Full Text: https://doi.org/10.1159/000120902]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
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Parham, D. M., Weeks, D. A., Beckwith, J. B.
|
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<strong>The clinicopathologic spectrum of putative extrarenal rhabdoid tumors: An analysis of 42 cases studied with immunohistochemistry or electron microscopy.</strong>
|
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Am. J. Surg. Path. 18: 1010-1029, 1994. Note: Erratum: Am. J. Surg. Path. 19: 488-489, 1995.
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[PubMed: 8092393]
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[Full Text: https://doi.org/10.1097/00000478-199410000-00005]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
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Parham, D. M.
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<strong>An inaccuracy. (Letter)</strong>
|
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Am. J. Surg. Path. 19: 448-489, 1995.
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[PubMed: 7694946]
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[Full Text: https://doi.org/10.1097/00000478-199504000-00006]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Sevenet, N., Sheridan, E., Amram, D., Schneider, P., Handgretinger, R., Delattre, O.
|
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<strong>Constitutional mutations of the hSNF5/INI1 gene predispose to a variety of cancers.</strong>
|
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Am. J. Hum. Genet. 65: 1342-1348, 1999.
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[PubMed: 10521299]
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[Full Text: https://doi.org/10.1086/302639]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Swensen, J. J., Keyser, J., Coffin, C. M., Biegel, J. A., Viskochil, D. H., Williams, M. S.
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<strong>Familial occurrence of schwannomas and malignant rhabdoid tumour associated with a duplication in SMARCB1.</strong>
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J. Med. Genet. 46: 68-72, 2009.
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[PubMed: 19124645]
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</li>
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<li>
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<p class="mim-text-font">
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Taylor, M. D., Gokgoz, N., Andrulis, I. L., Mainprize, T. G., Drake, J. M., Rutka, J. T.
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<strong>Familial posterior fossa brain tumors of infancy secondary to germline mutation of the hSNF5 gene.</strong>
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Am. J. Hum. Genet. 66: 1403-1406, 2000.
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[PubMed: 10739763]
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[Full Text: https://doi.org/10.1086/302833]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
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Versteege, I., Sevenet, N., Lange, J., Rousseau-Merck, M.-F., Ambros, P., Handgretinger, R., Aurias, A., Delattre, O.
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<strong>Truncating mutations of hSNF5/INI1 in aggressive paediatric cancer.</strong>
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Nature 394: 203-206, 1998.
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[PubMed: 9671307]
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[Full Text: https://doi.org/10.1038/28212]
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Weeks, D. A., Beckwith, J. B., Mierau, G. W., Luckey, D. W.
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<strong>Rhabdoid tumor of kidney: a report of 111 cases from the National Wilms' Tumor Study Pathology Center.</strong>
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Am. J. Surg. Path. 13: 439-458, 1989.
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[PubMed: 2543225]
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Cassandra L. Kniffin - updated : 3/24/2010<br>Cassandra L. Kniffin - updated : 2/13/2009
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Victor A. McKusick : 4/21/2005
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