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<meta name="keywords" content="C0025286, intracranial meningioma, meningeal neoplasm, meningioma, meningioma (disease), meningioma, somatic, meningiomas, meningothelial cell tumor, meningothelial cell tumour, neoplastic process, noncancerous growth of membranes covering brain, primary meningeal tumor, primary meningeal tumour, supratentorial meningioma, autosomal dominant, autosomal recessive, birth defects, chromosomal disease, chromosome, clinical features, clinical findings, clinical genetics, clinical recommendations, clinvar, congenital chromosomal disease, consumer genetic resources, cytogenetic location, disease characteristics, disease definitions, disease descriptions, disease ontology, disease synonyms, disease vocabulary, dysmorphology, entrez, familial disease, gene, gene-disease relationship, genereviews, genetic disease, genetic disorder, genetic terminology, genetic testing registry, genetics home reference, genomic disease, gtr, hereditary disease, heritable disease, hpo, human phenotype ontology, inherited disease, management guidelines, maternal inheritance, medgen, medical genetics, medical subject headings, mesh, mitochondrial inheritance, mode of inheritance, national center for biotechnology information, national institutes of health, national library of medicine, ncbi, nih, nlm, omim, ordo, orphanet, paternal inheritance, phenome, position statements, professional practice guidelines, rare disease, reference sequence, refseq, snomed ct, syndrome, undiagnosed diseases, x-linked recessive" /><meta name="description" content="The presence of a meningioma, i.e., a benign tumor originating from the dura mater or arachnoid mater." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
UID=7532
ConceptID=C0025286
-->
<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Meningioma</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>7532</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0025286</a></dd><dt><span class="dotprefix"></span></dt><dd>Neoplastic Process</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
<td>Meningioma, somatic</td></tr>
<tr><td>Modes of inheritance:</td>
<td>
<div class="divPopper rprt" id="moi_988794"><div><strong>Not genetically inherited</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>988794</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier assigned by MedGen (starting with CN) for terms&#10;that cannot be identified in NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">CN307044</a></dd><dt><span class="dotprefix"></span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">Source: Orphanet</div>
<div class="spaceAbove">clinical entity without genetic inheritance.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/988794">This record</a></div></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#moi_988794" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Not genetically inherited</a><span> (Orphanet)</span></div></td></tr>
<tr><td colspan="2" class="small"> </td></tr><tr><td>HPO:</td>
<td><a target="_blank" title="Human Phenotype Ontology" href="https://hpo.jax.org/app/browse/term/HP:0002858">HP:0002858</a></td></tr>
<tr><td>Monarch Initiative:</td>
<td><a href="https://monarchinitiative.org/disease/MONDO:0016642" target="_blank">MONDO:0016642</a></td></tr>
<tr><td>OMIM<span class="superscript">®</span>:</td>
<td><a href="https://omim.org/entry/190040" target="_blank">190040</a>; <a href="https://omim.org/entry/601728" target="_blank">601728</a></td></tr>
<tr><td>Orphanet:</td>
<td><a target="_blank" title="Orphanet: The portal for rare diseases and orphan drugs" href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&amp;Expert=2495">ORPHA2495</a></td></tr></tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
<div class="portlet mgSection" id="ID_100">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln">The presence of a meningioma, i.e., a benign tumor originating from the dura mater or arachnoid mater. [from <a title="Human Phenotype Ontology" href="http://www.human-phenotype-ontology.org" class="defSource" target="_blank">HPO</a>]</div>
</div>
<div class="portlet mgSection" id="ID_118">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li><li><a href="#tabORDO">Orphanet</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test,  </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test,  </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM,  </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>,  </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar  </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0025286[DISCUI]&amp;test_type=Clinical" ref="ncbi_uid=7532">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=7532" target="_blank" href="/omim/190040">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&amp;from_uid=7532" ref="ncbi_uid=7532">V</a></span></span><span class="TLline">Meningioma</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/4347" ref="tree=MeSH" title="MedGen record for Disease">Disease</a></span><ul><li><span class="TLline"><a href="/medgen/232130" ref="tree=MeSH" title="MedGen record for Disorder by Site">Disorder by Site</a></span><ul><li><span class="TLline"><a href="/medgen/14336" ref="tree=MeSH" title="MedGen record for Disorder of nervous system">Disorder of nervous system</a></span><ul><li><span class="TLline"><a href="/medgen/3306" ref="tree=MeSH" title="MedGen record for Disorder of the central nervous system">Disorder of the central nervous system</a></span><ul><li><span class="TLline"><a href="/medgen/88335" ref="tree=MeSH" title="MedGen record for Neoplasm of the central nervous system">Neoplasm of the central nervous system</a></span><ul><li><span class="TLline"><a href="/medgen/488882" ref="tree=MeSH" title="MedGen record for Benign neoplasm of the central nervous system">Benign neoplasm of the central nervous system</a></span><ul><li><span class="matched_ds">Meningioma</span><ul><li><span class="TLline"><a href="/medgen/78899" ref="tree=MeSH" title="MedGen record for Adult Meningioma">Adult Meningioma</a></span><ul><li><span class="TLline"><a href="/medgen/389535" ref="tree=MeSH" title="MedGen record for Adult Grade 1 Meningioma">Adult Grade 1 Meningioma</a></span></li><li><span class="TLline"><a href="/medgen/384869" ref="tree=MeSH" title="MedGen record for Adult Grade 2 Meningioma">Adult Grade 2 Meningioma</a></span><ul><li><span class="TLline"><a href="/medgen/233960" ref="tree=MeSH" title="MedGen record for Adult Atypical Meningioma">Adult Atypical Meningioma</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/389534" ref="tree=MeSH" title="MedGen record for Adult Grade 3 Meningioma">Adult Grade 3 Meningioma</a></span><ul><li><span class="TLline"><a href="/medgen/483331" ref="tree=MeSH" title="MedGen record for Adult Anaplastic (Malignant) Meningioma">Adult Anaplastic (Malignant) Meningioma</a></span></li><li><span class="TLline"><a href="/medgen/76256" ref="tree=MeSH" title="MedGen record for Adult papillary meningioma">Adult papillary meningioma</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/233961" ref="tree=MeSH" title="MedGen record for Adult Intracranial Meningioma">Adult Intracranial Meningioma</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/272539" ref="tree=MeSH" title="MedGen record for Deletion of Chromosome 22 Associated Meningioma">Deletion of Chromosome 22 Associated Meningioma</a></span></li><li><span class="TLline"><a href="/medgen/232422" ref="tree=MeSH" title="MedGen record for Deletion of Chromosome 3p Associated Meningioma">Deletion of Chromosome 3p Associated Meningioma</a></span></li><li><span class="TLline"><a href="/medgen/232423" ref="tree=MeSH" title="MedGen record for Deletion of the Short Arm of Chromosome 1 (1p) Associated Meningioma">Deletion of the Short Arm of Chromosome 1 (1p) Associated Meningioma</a></span></li><li><span class="TLline"><a href="/medgen/268144" ref="tree=MeSH" title="MedGen record for Grade 1 Meningioma">Grade 1 Meningioma</a></span><ul><li><span class="TLline"><a href="/medgen/87274" ref="tree=MeSH" title="MedGen record for Angiomatous meningioma">Angiomatous meningioma</a></span></li><li><span class="TLline"><a href="/medgen/129095" ref="tree=MeSH" title="MedGen record for Benign meningioma">Benign meningioma</a></span><ul><li><span class="TLline"><a href="/medgen/272360" ref="tree=MeSH" title="MedGen record for Benign Intracranial Meningioma">Benign Intracranial Meningioma</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/389540" ref="tree=MeSH" title="MedGen record for Childhood Grade 1 Meningioma">Childhood Grade 1 Meningioma</a></span></li><li><span class="TLline"><a href="/medgen/137789" ref="tree=MeSH" title="MedGen record for Fibrous meningioma">Fibrous meningioma</a></span></li><li><span class="TLline"><a href="/medgen/140907" ref="tree=MeSH" title="MedGen record for Lymphoplasmacyte-rich meningioma">Lymphoplasmacyte-rich meningioma</a></span></li><li><span class="TLline"><a href="/medgen/90814" ref="tree=MeSH" title="MedGen record for Meningothelial meningioma">Meningothelial meningioma</a></span></li><li><span class="TLline"><a href="/medgen/237197" ref="tree=MeSH" title="MedGen record for Metaplastic Meningioma">Metaplastic Meningioma</a></span></li><li><span class="TLline"><a href="/medgen/234616" ref="tree=MeSH" title="MedGen record for Microcystic meningioma">Microcystic meningioma</a></span></li><li><span class="TLline"><a href="/medgen/90815" ref="tree=MeSH" title="MedGen record for Psammomatous meningioma">Psammomatous meningioma</a></span></li><li><span class="TLline"><a href="/medgen/277998" ref="tree=MeSH" title="MedGen record for Secretory meningioma">Secretory meningioma</a></span></li><li><span class="TLline"><a href="/medgen/83174" ref="tree=MeSH" title="MedGen record for Transitional meningioma">Transitional meningioma</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/307517" ref="tree=MeSH" title="MedGen record for Grade II meningioma">Grade II meningioma</a></span><ul><li><span class="TLline"><a href="/medgen/96558" ref="tree=MeSH" title="MedGen record for Atypical Meningioma">Atypical Meningioma</a></span><ul><li><span class="TLline"><a href="/medgen/1791981" ref="tree=MeSH" title="MedGen record for Recurrent Atypical Meningioma">Recurrent Atypical Meningioma</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/389539" ref="tree=MeSH" title="MedGen record for Childhood Grade 2 Meningioma">Childhood Grade 2 Meningioma</a></span></li><li><span class="TLline"><a href="/medgen/235089" ref="tree=MeSH" title="MedGen record for Chordoid meningioma">Chordoid meningioma</a></span></li><li><span class="TLline"><a href="/medgen/98459" ref="tree=MeSH" title="MedGen record for Clear cell meningioma">Clear cell meningioma</a></span><ul><li><span class="TLline"><a href="/medgen/231959" ref="tree=MeSH" title="MedGen record for Brainstem intraparenchymal clear cell meningioma">Brainstem intraparenchymal clear cell meningioma</a></span></li><li><span class="TLline"><a href="/medgen/277661" ref="tree=MeSH" title="MedGen record for Spinal multifocal clear cell meningioma">Spinal multifocal clear cell meningioma</a></span></li></ul></li></ul></li><li><span class="TLline"><a href="/medgen/79186" ref="tree=MeSH" title="MedGen record for Grade III meningioma">Grade III meningioma</a></span><ul><li><span class="TLline"><a href="/medgen/75478" ref="tree=MeSH" title="MedGen record for Anaplastic meningioma">Anaplastic meningioma</a></span><ul><li><span class="TLline"><a href="/medgen/272310" ref="tree=MeSH" title="MedGen record for Anaplastic (Malignant) Intracranial Meningioma">Anaplastic (Malignant) Intracranial Meningioma</a></span></li><li><span class="TLline"><a href="/medgen/233985" ref="tree=MeSH" title="MedGen record for Anaplastic (Malignant) Intraspinal Meningioma">Anaplastic (Malignant) Intraspinal Meningioma</a></span></li><li><span class="TLline"><a href="/medgen/1791980" ref="tree=MeSH" title="MedGen record for Recurrent Anaplastic (Malignant) Meningioma">Recurrent Anaplastic (Malignant) Meningioma</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/389538" ref="tree=MeSH" title="MedGen record for Childhood Grade 3 Meningioma">Childhood Grade 3 Meningioma</a></span></li><li><span class="TLline"><a href="/medgen/463642" ref="tree=MeSH" title="MedGen record for Papillary meningioma">Papillary meningioma</a></span><ul><li><span class="TLline"><a href="/medgen/234109" ref="tree=MeSH" title="MedGen record for Papillary meningioma of the cerebellum">Papillary meningioma of the cerebellum</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/120445" ref="tree=MeSH" title="MedGen record for Rhabdoid meningioma">Rhabdoid meningioma</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/232281" ref="tree=MeSH" title="MedGen record for Hereditary Meningioma">Hereditary Meningioma</a></span></li><li><span class="TLline"><a href="/medgen/83891" ref="tree=MeSH" title="MedGen record for Intracranial meningioma">Intracranial meningioma</a></span><ul><li><span class="TLline"><a href="/medgen/234122" ref="tree=MeSH" title="MedGen record for Childhood brain meningioma">Childhood brain meningioma</a></span></li><li><span class="TLline"><a href="/medgen/98458" ref="tree=MeSH" title="MedGen record for Choroid plexus meningioma">Choroid plexus meningioma</a></span></li><li><span class="TLline"><a href="/medgen/232669" ref="tree=MeSH" title="MedGen record for Intraventricular meningioma">Intraventricular meningioma</a></span><ul><li><span class="TLline"><a href="/medgen/232693" ref="tree=MeSH" title="MedGen record for Lateral ventricle meningioma">Lateral ventricle meningioma</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/234991" ref="tree=MeSH" title="MedGen record for Optic tract meningioma">Optic tract meningioma</a></span><ul><li><span class="TLline"><a href="/medgen/231382" ref="tree=MeSH" title="MedGen record for Anterior optic tract meningioma">Anterior optic tract meningioma</a></span></li><li><span class="TLline"><a href="/medgen/231442" ref="tree=MeSH" title="MedGen record for Bilateral meningioma of optic nerve">Bilateral meningioma of optic nerve</a></span></li><li><span class="TLline"><a href="/medgen/138057" ref="tree=MeSH" title="MedGen record for Optic nerve sheath meningioma">Optic nerve sheath meningioma</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/235528" ref="tree=MeSH" title="MedGen record for Radiation-Induced Intracranial Meningioma">Radiation-Induced Intracranial Meningioma</a></span></li><li><span class="TLline"><a href="/medgen/233449" ref="tree=MeSH" title="MedGen record for Skull base meningioma">Skull base meningioma</a></span><ul><li><span class="TLline"><a href="/medgen/232034" ref="tree=MeSH" title="MedGen record for Cavernous sinus meningioma">Cavernous sinus meningioma</a></span></li><li><span class="TLline"><a href="/medgen/272489" ref="tree=MeSH" title="MedGen record for Clivus meningioma">Clivus meningioma</a></span></li><li><span class="TLline"><a href="/medgen/232512" ref="tree=MeSH" title="MedGen record for Foramen magnum meningioma">Foramen magnum meningioma</a></span></li><li><span class="TLline"><a href="/medgen/235221" ref="tree=MeSH" title="MedGen record for Internal auditory canal meningioma">Internal auditory canal meningioma</a></span></li><li><span class="TLline"><a href="/medgen/233723" ref="tree=MeSH" title="MedGen record for Multiple skull base meningioma">Multiple skull base meningioma</a></span></li><li><span class="TLline"><a href="/medgen/277511" ref="tree=MeSH" title="MedGen record for Petroclival meningioma">Petroclival meningioma</a></span></li><li><span class="TLline"><a href="/medgen/277512" ref="tree=MeSH" title="MedGen record for Petrous apex meningioma">Petrous apex meningioma</a></span></li><li><span class="TLline"><a href="/medgen/1651870" ref="tree=MeSH" title="MedGen record for Sellar Meningioma">Sellar Meningioma</a></span></li><li><span class="TLline"><a href="/medgen/234801" ref="tree=MeSH" title="MedGen record for Sphenocavernous meningioma">Sphenocavernous meningioma</a></span></li><li><span class="TLline"><a href="/medgen/233458" ref="tree=MeSH" title="MedGen record for Sphenoorbital meningioma">Sphenoorbital meningioma</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/234913" ref="tree=MeSH" title="MedGen record for Supratentorial meningioma">Supratentorial meningioma</a></span><ul><li><span class="TLline"><a href="/medgen/272315" ref="tree=MeSH" title="MedGen record for Anterior cranial fossa meningioma">Anterior cranial fossa meningioma</a></span></li><li><span class="TLline"><a href="/medgen/154239" ref="tree=MeSH" title="MedGen record for Cerebral meningioma">Cerebral meningioma</a></span></li><li><span class="TLline"><a href="/medgen/232542" ref="tree=MeSH" title="MedGen record for Gasserian ganglion meningioma">Gasserian ganglion meningioma</a></span></li><li><span class="TLline"><a href="/medgen/277369" ref="tree=MeSH" title="MedGen record for Middle cranial fossa meningioma">Middle cranial fossa meningioma</a></span></li><li><span class="TLline"><a href="/medgen/235478" ref="tree=MeSH" title="MedGen record for Pineal region meningioma">Pineal region meningioma</a></span></li></ul></li></ul></li><li><span class="TLline"><a href="/medgen/277358" ref="tree=MeSH" title="MedGen record for Meningioma by Site">Meningioma by Site</a></span><ul><li><span class="TLline"><a href="/medgen/272773" ref="tree=MeSH" title="MedGen record for Intraorbital meningioma">Intraorbital meningioma</a></span><ul><li><span class="TLline"><a href="/medgen/233849" ref="tree=MeSH" title="MedGen record for Periocular meningioma">Periocular meningioma</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/272774" ref="tree=MeSH" title="MedGen record for Intraspinal meningioma">Intraspinal meningioma</a></span><ul><li><span class="TLline"><a href="/medgen/272451" ref="tree=MeSH" title="MedGen record for Cervical spinal canal and spinal cord meningioma">Cervical spinal canal and spinal cord meningioma</a></span></li><li><span class="TLline"><a href="/medgen/232462" ref="tree=MeSH" title="MedGen record for Epidural spinal canal meningioma">Epidural spinal canal meningioma</a></span></li><li><span class="TLline"><a href="/medgen/232707" ref="tree=MeSH" title="MedGen record for Lumbar spinal canal and spinal cord meningioma">Lumbar spinal canal and spinal cord meningioma</a></span></li><li><span class="TLline"><a href="/medgen/235341" ref="tree=MeSH" title="MedGen record for Multiple spinal canal and spinal cord meningioma">Multiple spinal canal and spinal cord meningioma</a></span></li><li><span class="TLline"><a href="/medgen/277626" ref="tree=MeSH" title="MedGen record for Sacral spinal canal and spinal cord meningioma">Sacral spinal canal and spinal cord meningioma</a></span></li><li><span class="TLline"><a href="/medgen/87576" ref="tree=MeSH" title="MedGen record for Spinal meningioma">Spinal meningioma</a></span></li><li><span class="TLline"><a href="/medgen/234424" ref="tree=MeSH" title="MedGen record for Thoracic spinal canal and spinal cord meningioma">Thoracic spinal canal and spinal cord meningioma</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/233586" ref="tree=MeSH" title="MedGen record for Jugular foramen meningioma">Jugular foramen meningioma</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/233183" ref="tree=MeSH" title="MedGen record for Metastatic Meningioma">Metastatic Meningioma</a></span></li><li><span class="TLline"><a href="/medgen/64453" ref="tree=MeSH" title="MedGen record for Multiple meningiomas">Multiple meningiomas</a></span></li><li><span class="TLline"><a href="/medgen/79156" ref="tree=MeSH" title="MedGen record for Pediatric meningioma">Pediatric meningioma</a></span></li><li><span class="TLline"><a href="/medgen/233911" ref="tree=MeSH" title="MedGen record for Recurrent Meningioma">Recurrent Meningioma</a></span></li><li><span class="TLline"><a href="/medgen/1728199" ref="tree=MeSH" title="MedGen record for Refractory Meningioma">Refractory Meningioma</a></span></li><li><span class="TLline"><a href="/medgen/1705535" ref="tree=MeSH" title="MedGen record for Unresectable Meningioma">Unresectable Meningioma</a></span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div><div id="tabORDO">Follow <a target="_blank" href="http://www.orpha.net/consor/cgi-bin/Disease_Classif.php?lng=EN&amp;data_id=156&amp;PatId=1030&amp;search=Disease_Classif_Simple&amp;new=1" class="ital bold">this link</a> to review classifications for <span class="ital">Meningioma</span> in Orphanet.</div></div></div>
</div>
<div class="portlet mgSection" id="ID_112">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Conditions_with_this_feature">Conditions with this feature</h1><a sid="112" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="divPopper rprt" id="rdis_18013"><div><strong>Neurofibromatosis, type 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>18013</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0027831</a></dd><dt><span class="dotprefix"></span></dt><dd>Neoplastic Process</dd></dl></div></div></div>
<div class="spaceAbove">Neurofibromatosis 1 (NF1) is a multisystem disorder characterized by multiple café au lait macules, intertriginous freckling, multiple cutaneous neurofibromas, and learning disability or behavior problems. About half of people with NF1 have plexiform neurofibromas, but most are internal and not suspected clinically. Plexiform neurofibromas can cause pain, neurologic deficits, and abnormalities of involved or adjacent structures. Less common but potentially more serious manifestations include optic nerve and other central nervous system gliomas, malignant peripheral nerve sheath tumors, scoliosis, tibial dysplasia, vasculopathy, and gastrointestinal, endocrine, or pulmonary disease.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/18013">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_18014"><div><strong>Neurofibromatosis, type 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>18014</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0027832</a></dd><dt><span class="dotprefix"></span></dt><dd>Neoplastic Process</dd></dl></div></div></div>
<div class="spaceAbove">NF2-related schwannomatosis (NF2) is characterized by bilateral vestibular schwannomas with associated symptoms of tinnitus, hearing loss, and balance dysfunction. The average age of onset is 18 to 24 years. Almost all affected individuals develop bilateral vestibular schwannomas by age 30 years. Affected individuals may also develop schwannomas of other cranial and peripheral nerves, meningiomas, ependymomas, and (very rarely) low-grade astrocytomas. Because NF2 is considered an adult-onset disease, it may be underrecognized in children, in whom skin tumors and ocular findings (retinal hamartoma, thickened optic nerves, cortical wedge cataracts, third cranial nerve palsy) may be the first manifestations. Mononeuropathy that occurs in childhood is an increasingly recognized finding; it frequently presents as a persistent facial palsy or hand/foot drop.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/18014">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_12147"><div><strong>Werner syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>12147</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0043119</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Werner syndrome is characterized by the premature appearance of features associated with normal aging and cancer predisposition. Individuals with Werner syndrome develop normally until the end of the first decade. The first sign is the lack of a growth spurt during the early teen years. Early findings (usually observed in the 20s) include loss and graying of hair, hoarseness, and scleroderma-like skin changes, followed by bilateral ocular cataracts, type 2 diabetes mellitus, hypogonadism, skin ulcers, and osteoporosis in the 30s. Myocardial infarction and cancer are the most common causes of death; the mean age of death in individuals with Werner syndrome is 54 years.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/12147">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_154259"><div><strong>Neurocutaneous melanocytosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>154259</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0544862</a></dd><dt><span class="dotprefix"></span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
<div class="spaceAbove">Neurocutaneous melanosis, or neuromelanosis, is characterized by the presence of melanin-producing cells within the brain parenchyma or leptomeninges, which may lead to clinically apparent neurologic signs and symptoms, such as seizures. Other neurologic abnormalities, including hydrocephalus, arachnoid cysts, tumors, and syringomyelia, may also occur. The disorder is a rare but severe manifestation of congenital melanocytic nevus syndrome (CMNS; 137550). Some patients with neurocutaneous melanosis or CMNS may develop malignant melanoma. The incidence of neurologic involvement, development of malignant melanoma, and death is significantly associated with the projected adult size of the largest congenital melanocytic nevus, particularly those greater than 40 cm (summary by Kinsler et al., 2008; Kinsler et al., 2013).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/154259">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_331813"><div><strong>Cerebelloparenchymal Disorder VI</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>331813</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C1834711</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove nowrap">See: <a href="/medgen/331813">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_355421"><div><strong>Megalencephaly-capillary malformation-polymicrogyria syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>355421</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C1865285</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">PIK3CA-related overgrowth spectrum (PROS) encompasses a range of clinical findings in which the core features are congenital or early-childhood onset of segmental/focal overgrowth with or without cellular dysplasia. Prior to the identification of PIK3CA as the causative gene, PROS was separated into distinct clinical syndromes based on the tissues and/or organs involved (e.g., MCAP [megalencephaly-capillary malformation] syndrome and CLOVES [congenital lipomatous asymmetric overgrowth of the trunk, lymphatic, capillary, venous, and combined-type vascular malformations, epidermal nevi, skeletal and spinal anomalies] syndrome). The predominant areas of overgrowth include the brain, limbs (including fingers and toes), trunk (including abdomen and chest), and face, all usually in an asymmetric distribution. Generalized brain overgrowth may be accompanied by secondary overgrowth of specific brain structures resulting in ventriculomegaly, a markedly thick corpus callosum, and cerebellar tonsillar ectopia with crowding of the posterior fossa. Vascular malformations may include capillary, venous, and less frequently, arterial or mixed (capillary-lymphatic-venous or arteriovenous) malformations. Lymphatic malformations may be in various locations (internal and/or external) and can cause various clinical issues, including swelling, pain, and occasionally localized bleeding secondary to trauma. Lipomatous overgrowth may occur ipsilateral or contralateral to a vascular malformation, if present. The degree of intellectual disability appears to be mostly related to the presence and severity of seizures, cortical dysplasia (e.g., polymicrogyria), and hydrocephalus. Many children have feeding difficulties that are often multifactorial in nature. Endocrine issues affect a small number of individuals and most commonly include hypoglycemia (largely hypoinsulinemic hypoketotic hypoglycemia), hypothyroidism, and growth hormone deficiency.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/355421">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_383181"><div><strong>Hunter-Macdonald syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>383181</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C2677745</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove nowrap">See: <a href="/medgen/383181">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_414431"><div><strong>Glioma susceptibility 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>414431</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C2751642</a></dd><dt><span class="dotprefix"></span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">Any malignant glioma in which the cause of the disease is a mutation in the PTEN gene.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/414431">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_419422"><div><strong>Neurofibromatosis, type III, mixed central and peripheral</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>419422</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C2931480</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove nowrap">See: <a href="/medgen/419422">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_482122"><div><strong>BAP1-related tumor predisposition syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>482122</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C3280492</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">BAP1 tumor predisposition syndrome (BAP1-TPDS) is associated with an increased risk for a specific skin lesion, BAP1-inactivated melanocytic tumors (BIMT; formerly called atypical Spitz tumors), and the following cancers, in descending order of frequency: uveal (eye) melanoma (UM), malignant mesothelioma (MMe), cutaneous melanoma (CM), renal cell carcinoma (RCC), basal cell carcinoma (BCC), meningioma, and cholangiocarcinoma. Onychopapillomas, hepatocellular carcinoma, and ovarian sex cord-stromal tumors may also be associated with BAP1-TPDS. Affected individuals can have more than one type of primary cancer. In general, the median age of onset of these tumors is younger than in the general population. UM tends to be a more aggressive class 2 tumor with higher risk for metastasis and reduced survival compared to UM occurring in the general population. RCC is usually of clear cell morphology, but other pathologies have been reported. MMe, especially pleural, has better survival and responds better to platinum chemotherapy than MMe not associated with a germline BAP1 pathogenic variant. The penetrance, natural history, life-time cancer risk for carriers, and frequencies of BAP1-associated tumors are yet to be fully determined.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/482122">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_764829"><div><strong>Familial meningioma</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>764829</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C3551915</a></dd><dt><span class="dotprefix"></span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">Individuals with MN1 C-terminal truncation (MCTT) syndrome have mild-to-moderate intellectual disability, severe expressive language delay, dysmorphic facial features (midface hypoplasia, downslanting palpebral fissures, hypertelorism, exophthalmia, short upturned nose, and small low-set ears), and distinctive findings on brain imaging (including perisylvian polymicrogyria and atypical rhombencephalosynapsis). Mild-to-moderate prelingual hearing loss (usually bilateral, conductive, and/or sensorineural) is common. Generalized seizures (observed in the minority of individuals) are responsive to anti-seizure medication. There is an increased risk for craniosynostosis and, thus, increased intracranial pressure. To date, 25 individuals with MCTT syndrome have been identified.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/764829">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_767432"><div><strong>Cowden syndrome 5</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>767432</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C3554518</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">PIK3CA-related overgrowth spectrum (PROS) encompasses a range of clinical findings in which the core features are congenital or early-childhood onset of segmental/focal overgrowth with or without cellular dysplasia. Prior to the identification of PIK3CA as the causative gene, PROS was separated into distinct clinical syndromes based on the tissues and/or organs involved (e.g., MCAP [megalencephaly-capillary malformation] syndrome and CLOVES [congenital lipomatous asymmetric overgrowth of the trunk, lymphatic, capillary, venous, and combined-type vascular malformations, epidermal nevi, skeletal and spinal anomalies] syndrome). The predominant areas of overgrowth include the brain, limbs (including fingers and toes), trunk (including abdomen and chest), and face, all usually in an asymmetric distribution. Generalized brain overgrowth may be accompanied by secondary overgrowth of specific brain structures resulting in ventriculomegaly, a markedly thick corpus callosum, and cerebellar tonsillar ectopia with crowding of the posterior fossa. Vascular malformations may include capillary, venous, and less frequently, arterial or mixed (capillary-lymphatic-venous or arteriovenous) malformations. Lymphatic malformations may be in various locations (internal and/or external) and can cause various clinical issues, including swelling, pain, and occasionally localized bleeding secondary to trauma. Lipomatous overgrowth may occur ipsilateral or contralateral to a vascular malformation, if present. The degree of intellectual disability appears to be mostly related to the presence and severity of seizures, cortical dysplasia (e.g., polymicrogyria), and hydrocephalus. Many children have feeding difficulties that are often multifactorial in nature. Endocrine issues affect a small number of individuals and most commonly include hypoglycemia (largely hypoinsulinemic hypoketotic hypoglycemia), hypothyroidism, and growth hormone deficiency.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/767432">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_767433"><div><strong>Cowden syndrome 6</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>767433</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C3554519</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">\n\nThe features of Cowden syndrome overlap with those of another disorder called Bannayan-Riley-Ruvalcaba syndrome. People with Bannayan-Riley-Ruvalcaba syndrome also develop hamartomas and other noncancerous tumors.  Some people with Cowden syndrome have relatives diagnosed with Bannayan-Riley-Ruvalcaba syndrome, and other affected individuals have the characteristic features of both conditions. Based on these similarities, researchers have proposed that Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome represent a spectrum of overlapping features known as PTEN hamartoma tumor syndrome (named for the genetic cause of the conditions) instead of two distinct conditions.\n\nSome people do not meet the strict criteria for a clinical diagnosis of Cowden syndrome, but they have some of the characteristic features of the condition, particularly the cancers. These individuals are often described as having Cowden-like syndrome. Both Cowden syndrome and Cowden-like syndrome are caused by mutations in the same genes.\n\nCowden syndrome is associated with an increased risk of developing several types of cancer, particularly cancers of the breast, a gland in the lower neck called the thyroid, and the lining of the uterus (the endometrium). Other cancers that have been identified in people with Cowden syndrome include kidney cancer, colorectal cancer, and an agressive form of skin cancer called melanoma. Compared with the general population, people with Cowden syndrome develop these cancers at younger ages, often beginning in their thirties or forties. People with Cowden syndrome are also more likely to develop more than one cancer during their lifetimes compared to the general population. Other diseases of the breast, thyroid, and endometrium are also common in Cowden syndrome. Additional signs and symptoms can include an enlarged head (macrocephaly) and a rare, noncancerous brain tumor called Lhermitte-Duclos disease. A small percentage of affected individuals have delayed development, intellectual disability, or autism spectrum disorder, which can affect communication and social interaction.\n\nAlmost everyone with Cowden syndrome develops hamartomas. These growths are most commonly found on the skin and mucous membranes (such as the lining of the mouth and nose), but they can also occur in the intestine and other parts of the body. The growth of hamartomas on the skin and mucous membranes typically becomes apparent by a person's late twenties.\n\nCowden syndrome is a genetic disorder characterized by multiple noncancerous, tumor-like growths called hamartomas and an increased risk of developing certain cancers.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/767433">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_887689"><div><strong>SMARCB1-related schwannomatosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>887689</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C4048809</a></dd><dt><span class="dotprefix"></span></dt><dd>Neoplastic Process</dd></dl></div></div></div>
<div class="spaceAbove">LZTR1- and SMARCB1-related schwannomatosis are characterized by a predisposition to develop multiple non-intradermal schwannomas. Individuals most commonly present between the second and fourth decade of life. The most common presenting feature is localized or diffuse pain or asymptomatic mass. Schwannomas most often affect peripheral nerves and spinal nerves. Meningiomas have only been reported in individuals with SMARCB1-related schwannomatosis. Malignancy remains a risk especially in individuals with SMARCB1-related schwannomatosis.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/887689">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_902388"><div><strong>Familial adenomatous polyposis 3</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>902388</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C4225157</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">NTHL1 tumor syndrome is characterized by an increased lifetime risk for colorectal cancer (CRC), breast cancer, and colorectal polyposis. Colorectal polyps can be adenomatous, hyperplastic, and/or sessile serrated. Duodenal polyposis has also been reported. Additional cancers reported in individuals with NTHL1 tumor syndrome include endometrial cancer, cervical cancer, urothelial carcinoma of the bladder, meningiomas, unspecified brain tumors, basal cell carcinomas, head and neck squamous cell carcinomas, and hematologic malignancies. The cumulative lifetime risk of developing extracolonic cancer by age 60 years has been estimated at 35% to 78%.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/902388">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1648350"><div><strong>Intellectual developmental disorder, autosomal recessive 67</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1648350</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C4749019</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1648350">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1823959"><div><strong>Tumor predisposition syndrome 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1823959</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C5774186</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Tumor predisposition syndrome-2 (TPDS2) is an autosomal recessive cancer predisposition syndrome characterized by the onset of various types of tumors or malignancies in young adulthood. The most common clinical manifestations include acute myeloid leukemia (AML), myelodysplastic syndrome, colorectal adenomatous polyposis and carcinoma, and uveal melanoma, although other tumors and malignancies have been reported (summary by Palles et al., 2022).&#13; For a discussion of genetic heterogeneity of TPDS, see TPDS1 (614327).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1823959">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1841087"><div><strong>Basal cell nevus syndrome 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1841087</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C5830451</a></dd><dt><span class="dotprefix"></span></dt><dd>Neoplastic Process</dd></dl></div></div></div>
<div class="spaceAbove">The basal cell nevus syndrome (BCNS), also known as Gorlin syndrome, is characterized by numerous basal cell cancers and epidermal cysts of the skin, calcified dural folds, keratocysts of the jaws, palmar and plantar pits, ovarian fibromas, medulloblastomas, lymphomesenteric cysts, fetal rhabdomyomas, and various stigmata of maldevelopment (e.g., rib and vertebral abnormalities, cleft lip or cleft palate, and cortical defects of bones) (summary by Koch et al., 2002).&#13; For a discussion of genetic heterogeneity of BCNS, see BCNS1 (109400).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1841087">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1849727"><div><strong>Li-Fraumeni syndrome 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1849727</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C5882668</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Li-Fraumeni syndrome is a rare disorder that greatly increases the risk of developing several types of cancer, particularly in children and young adults.\n\nThe cancers most often associated with Li-Fraumeni syndrome include breast cancer, a form of bone cancer called osteosarcoma, and cancers of soft tissues (such as muscle) called soft tissue sarcomas. Other cancers commonly seen in this syndrome include brain tumors, cancers of blood-forming tissues (leukemias), and a cancer called adrenocortical carcinoma that affects the outer layer of the adrenal glands (small hormone-producing glands on top of each kidney). Several other types of cancer also occur more frequently in people with Li-Fraumeni syndrome.\n\nA very similar condition called Li-Fraumeni-like syndrome shares many of the features of classic Li-Fraumeni syndrome. Both conditions significantly increase the chances of developing multiple cancers beginning in childhood; however, the pattern of specific cancers seen in affected family members is different.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1849727">Condition Record</a></div></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_482122" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">BAP1-related tumor predisposition syndrome</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1841087" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Basal cell nevus syndrome 2</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_331813" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cerebelloparenchymal Disorder VI</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_767432" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cowden syndrome 5</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_767433" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cowden syndrome 6</a></div><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (19)', lessText: 'Show less', nodeBefore: 0"><span id="clinMore">
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_902388" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Familial adenomatous polyposis 3</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_764829" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Familial meningioma</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_414431" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Glioma susceptibility 2</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_383181" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hunter-Macdonald syndrome</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1648350" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Intellectual developmental disorder, autosomal recessive 67</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1849727" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Li-Fraumeni syndrome 2</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_355421" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Megalencephaly-capillary malformation-polymicrogyria syndrome</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_154259" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neurocutaneous melanocytosis</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_18013" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neurofibromatosis, type 1</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_18014" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neurofibromatosis, type 2</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_419422" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neurofibromatosis, type III, mixed central and peripheral</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_887689" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">SMARCB1-related schwannomatosis</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1823959" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Tumor predisposition syndrome 2</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_12147" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Werner syndrome</a></div></span></div></div>
</div>
<div class="portlet mgSection" id="ID_105">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
<div class="nl"><a target="_blank" href="/pubmed/37698283">Primary pulmonary meningioma.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Hsu CC,
Tsai YM,
Yang SF,
Hsu JS</span><br />
<span class="medgenPMjournal">Kaohsiung J Med Sci</span>
2023 Nov;39(11):1155-1156.
Epub 2023 Sep 12
doi: 10.1002/kjm2.12754.
<span class="bold">PMID: </span><a href="/pubmed/37698283" target="_blank">37698283</a></div>
<div class="nl"><a target="_blank" href="/pubmed/34181733">EANO guideline on the diagnosis and management of meningiomas.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Goldbrunner R,
Stavrinou P,
Jenkinson MD,
Sahm F,
Mawrin C,
Weber DC,
Preusser M,
Minniti G,
Lund-Johansen M,
Lefranc F,
Houdart E,
Sallabanda K,
Le Rhun E,
Nieuwenhuizen D,
Tabatabai G,
Soffietti R,
Weller M</span><br />
<span class="medgenPMjournal">Neuro Oncol</span>
2021 Nov 2;23(11):1821-1834.
doi: 10.1093/neuonc/noab150.
<span class="bold">PMID: </span><a href="/pubmed/34181733" target="_blank">34181733</a><a href="/pmc/articles/PMC8563316" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/34015955">Meningioma: not always a benign tumor. A review of advances in the treatment of meningiomas.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Maggio I,
Franceschi E,
Tosoni A,
Nunno VD,
Gatto L,
Lodi R,
Brandes AA</span><br />
<span class="medgenPMjournal">CNS Oncol</span>
2021 Jun 1;10(2):CNS72.
Epub 2021 May 21
doi: 10.2217/cns-2021-0003.
<span class="bold">PMID: </span><a href="/pubmed/34015955" target="_blank">34015955</a><a href="/pmc/articles/PMC8162186" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22meningioma%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">See all (447)</a></div><h3 class="subhead">Curated<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpCurated"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3><h3 class="nl vspace"><a href="https://www.nice.org.uk/guidance/ng99" target="_blank">UK NICE Guideline NG99, Brain tumours (primary) and brain metastases in over 16s, 2021</a></h3>
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<div class="display-none help-popup" id="guidelinesHelpPM">These guidelines are articles in PubMed that match specific search criteria developed by MedGen to capture the most relevant practice guidelines. This list may not be comprehensive and may include broader topics as well. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div><div class="display-none help-popup" id="guidelinesHelpCurated">These guidelines are manually curated by the MedGen team
to supplement articles available in PubMed. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div>
<div class="portlet mgSection" id="ID_103">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_clinical_studies">Recent clinical studies</h1><a sid="103" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln"><h3 class="subhead">Etiology</h3>
<div class="nl"><a target="_blank" href="/pubmed/32586496">Malignant meningiomas.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Fountain DM,
Young AMH,
Santarius T</span><br />
<span class="medgenPMjournal">Handb Clin Neurol</span>
2020;170:245-250.
doi: 10.1016/B978-0-12-822198-3.00044-6.
<span class="bold">PMID: </span><a href="/pubmed/32586496" target="_blank">32586496</a></div>
<div class="nl"><a target="_blank" href="/pubmed/22133182">Incidental meningiomas.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Chamoun R,
Krisht KM,
Couldwell WT</span><br />
<span class="medgenPMjournal">Neurosurg Focus</span>
2011 Dec;31(6):E19.
doi: 10.3171/2011.9.FOCUS11220.
<span class="bold">PMID: </span><a href="/pubmed/22133182" target="_blank">22133182</a></div>
<div class="nl"><a target="_blank" href="/pubmed/20821343">Epidemiology and etiology of meningioma.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Wiemels J,
Wrensch M,
Claus EB</span><br />
<span class="medgenPMjournal">J Neurooncol</span>
2010 Sep;99(3):307-14.
Epub 2010 Sep 7
doi: 10.1007/s11060-010-0386-3.
<span class="bold">PMID: </span><a href="/pubmed/20821343" target="_blank">20821343</a><a href="/pmc/articles/PMC2945461" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/18342535">Meningioma.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Marosi C,
Hassler M,
Roessler K,
Reni M,
Sant M,
Mazza E,
Vecht C</span><br />
<span class="medgenPMjournal">Crit Rev Oncol Hematol</span>
2008 Aug;67(2):153-71.
Epub 2008 Mar 14
doi: 10.1016/j.critrevonc.2008.01.010.
<span class="bold">PMID: </span><a href="/pubmed/18342535" target="_blank">18342535</a></div>
<div class="nl"><a target="_blank" href="/pubmed/11949834">Radiation-induced meningiomas.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Boljesíkova E,
Chorvath M</span><br />
<span class="medgenPMjournal">Neoplasma</span>
2001;48(6):442-4.
<span class="bold">PMID: </span><a href="/pubmed/11949834" target="_blank">11949834</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Meningioma%22%20AND%20Etiology%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (6511)</a></div><h3 class="subhead">Diagnosis</h3>
<div class="nl"><a target="_blank" href="/pubmed/37210122">Histopathologic and Molecular Evaluation of Meningioma.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Davidson C</span><br />
<span class="medgenPMjournal">Neurosurg Clin N Am</span>
2023 Jul;34(3):311-318.
Epub 2023 Apr 4
doi: 10.1016/j.nec.2023.02.001.
<span class="bold">PMID: </span><a href="/pubmed/37210122" target="_blank">37210122</a></div>
<div class="nl"><a target="_blank" href="/pubmed/32586496">Malignant meningiomas.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Fountain DM,
Young AMH,
Santarius T</span><br />
<span class="medgenPMjournal">Handb Clin Neurol</span>
2020;170:245-250.
doi: 10.1016/B978-0-12-822198-3.00044-6.
<span class="bold">PMID: </span><a href="/pubmed/32586496" target="_blank">32586496</a></div>
<div class="nl"><a target="_blank" href="/pubmed/32586491">Image-guided surgery for meningioma.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Silva D,
Belsuzarri T,
Barnett GH</span><br />
<span class="medgenPMjournal">Handb Clin Neurol</span>
2020;170:201-207.
doi: 10.1016/B978-0-12-822198-3.00040-9.
<span class="bold">PMID: </span><a href="/pubmed/32586491" target="_blank">32586491</a></div>
<div class="nl"><a target="_blank" href="/pubmed/15135603">Meningiomas.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Whittle IR,
Smith C,
Navoo P,
Collie D</span><br />
<span class="medgenPMjournal">Lancet</span>
2004 May 8;363(9420):1535-43.
doi: 10.1016/S0140-6736(04)16153-9.
<span class="bold">PMID: </span><a href="/pubmed/15135603" target="_blank">15135603</a></div>
<div class="nl"><a target="_blank" href="/pubmed/10080021">Tentorial meningiomas.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Harrison MJ,
al-Mefty O</span><br />
<span class="medgenPMjournal">Clin Neurosurg</span>
1997;44:451-66.
<span class="bold">PMID: </span><a href="/pubmed/10080021" target="_blank">10080021</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Meningioma%22%20AND%20Diagnosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (8737)</a></div><h3 class="subhead">Therapy</h3>
<div class="nl"><a target="_blank" href="/pubmed/35578106">Major Features of the 2021 WHO Classification of CNS Tumors.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Smith HL,
Wadhwani N,
Horbinski C</span><br />
<span class="medgenPMjournal">Neurotherapeutics</span>
2022 Oct;19(6):1691-1704.
Epub 2022 May 16
doi: 10.1007/s13311-022-01249-0.
<span class="bold">PMID: </span><a href="/pubmed/35578106" target="_blank">35578106</a><a href="/pmc/articles/PMC9723092" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/34181733">EANO guideline on the diagnosis and management of meningiomas.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Goldbrunner R,
Stavrinou P,
Jenkinson MD,
Sahm F,
Mawrin C,
Weber DC,
Preusser M,
Minniti G,
Lund-Johansen M,
Lefranc F,
Houdart E,
Sallabanda K,
Le Rhun E,
Nieuwenhuizen D,
Tabatabai G,
Soffietti R,
Weller M</span><br />
<span class="medgenPMjournal">Neuro Oncol</span>
2021 Nov 2;23(11):1821-1834.
doi: 10.1093/neuonc/noab150.
<span class="bold">PMID: </span><a href="/pubmed/34181733" target="_blank">34181733</a><a href="/pmc/articles/PMC8563316" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/32586503">Brachytherapy for meningiomas.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Magill ST,
Schwartz TH,
Theodosopoulos PV,
McDermott MW</span><br />
<span class="medgenPMjournal">Handb Clin Neurol</span>
2020;170:303-307.
doi: 10.1016/B978-0-12-822198-3.00049-5.
<span class="bold">PMID: </span><a href="/pubmed/32586503" target="_blank">32586503</a></div>
<div class="nl"><a target="_blank" href="/pubmed/32586496">Malignant meningiomas.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Fountain DM,
Young AMH,
Santarius T</span><br />
<span class="medgenPMjournal">Handb Clin Neurol</span>
2020;170:245-250.
doi: 10.1016/B978-0-12-822198-3.00044-6.
<span class="bold">PMID: </span><a href="/pubmed/32586496" target="_blank">32586496</a></div>
<div class="nl"><a target="_blank" href="/pubmed/18342535">Meningioma.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Marosi C,
Hassler M,
Roessler K,
Reni M,
Sant M,
Mazza E,
Vecht C</span><br />
<span class="medgenPMjournal">Crit Rev Oncol Hematol</span>
2008 Aug;67(2):153-71.
Epub 2008 Mar 14
doi: 10.1016/j.critrevonc.2008.01.010.
<span class="bold">PMID: </span><a href="/pubmed/18342535" target="_blank">18342535</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Meningioma%22%20AND%20Therapy%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (2735)</a></div><h3 class="subhead">Prognosis</h3>
<div class="nl"><a target="_blank" href="/pubmed/37793125">CBTRUS Statistical Report: Primary Brain and Other Central Nervous System Tumors Diagnosed in the United States in 2016-2020.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Ostrom QT,
Price M,
Neff C,
Cioffi G,
Waite KA,
Kruchko C,
Barnholtz-Sloan JS</span><br />
<span class="medgenPMjournal">Neuro Oncol</span>
2023 Oct 4;25(12 Suppl 2):iv1-iv99.
doi: 10.1093/neuonc/noad149.
<span class="bold">PMID: </span><a href="/pubmed/37793125" target="_blank">37793125</a><a href="/pmc/articles/PMC10550277" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/32741068">Physical activity, obesity and sedentary behavior in cancer etiology: epidemiologic evidence and biologic mechanisms.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Friedenreich CM,
Ryder-Burbidge C,
McNeil J</span><br />
<span class="medgenPMjournal">Mol Oncol</span>
2021 Mar;15(3):790-800.
Epub 2020 Aug 18
doi: 10.1002/1878-0261.12772.
<span class="bold">PMID: </span><a href="/pubmed/32741068" target="_blank">32741068</a><a href="/pmc/articles/PMC7931121" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/32553293">Meningiomas in children.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Phillips D,
Auguste KI,
Gupta N</span><br />
<span class="medgenPMjournal">Handb Clin Neurol</span>
2020;169:253-259.
doi: 10.1016/B978-0-12-804280-9.00016-0.
<span class="bold">PMID: </span><a href="/pubmed/32553293" target="_blank">32553293</a></div>
<div class="nl"><a target="_blank" href="/pubmed/15551182">Spontaneous, multiple meningiomas.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Salvati M,
Caroli E,
Ferrante L,
Rocchi G,
D' Andrea G,
Piccirilli M,
Delfini R</span><br />
<span class="medgenPMjournal">Zentralbl Neurochir</span>
2004 Nov;65(4):180-4.
doi: 10.1055/s-2004-832349.
<span class="bold">PMID: </span><a href="/pubmed/15551182" target="_blank">15551182</a></div>
<div class="nl"><a target="_blank" href="/pubmed/10080021">Tentorial meningiomas.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Harrison MJ,
al-Mefty O</span><br />
<span class="medgenPMjournal">Clin Neurosurg</span>
1997;44:451-66.
<span class="bold">PMID: </span><a href="/pubmed/10080021" target="_blank">10080021</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Meningioma%22%20AND%20Prognosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (4955)</a></div><h3 class="subhead">Clinical prediction guides</h3>
<div class="nl"><a target="_blank" href="/pubmed/37210125">Incidental Meningiomas: Potential Predictors of Growth and Current State of Management.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Mahgerefteh N,
Mozaffari K,
Teton Z,
Malkhasyan Y,
Kim K,
Yang I</span><br />
<span class="medgenPMjournal">Neurosurg Clin N Am</span>
2023 Jul;34(3):347-369.
Epub 2023 Apr 12
doi: 10.1016/j.nec.2023.02.009.
<span class="bold">PMID: </span><a href="/pubmed/37210125" target="_blank">37210125</a></div>
<div class="nl"><a target="_blank" href="/pubmed/34618539">Integrated Molecular-Morphologic Meningioma Classification: A Multicenter Retrospective Analysis, Retrospectively and Prospectively Validated.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Maas SLN,
Stichel D,
Hielscher T,
Sievers P,
Berghoff AS,
Schrimpf D,
Sill M,
Euskirchen P,
Blume C,
Patel A,
Dogan H,
Reuss D,
Dohmen H,
Stein M,
Reinhardt A,
Suwala AK,
Wefers AK,
Baumgarten P,
Ricklefs F,
Rushing EJ,
Bewerunge-Hudler M,
Ketter R,
Schittenhelm J,
Jaunmuktane Z,
Leu S,
Greenway FEA,
Bridges LR,
Jones T,
Grady C,
Serrano J,
Golfinos J,
Sen C,
Mawrin C,
Jungk C,
Hänggi D,
Westphal M,
Lamszus K,
Etminan N,
Jungwirth G,
Herold-Mende C,
Unterberg A,
Harter PN,
Wirsching HG,
Neidert MC,
Ratliff M,
Platten M,
Snuderl M,
Aldape KD,
Brandner S,
Hench J,
Frank S,
Pfister SM,
Jones DTW,
Reifenberger G,
Acker T,
Wick W,
Weller M,
Preusser M,
von Deimling A,
Sahm F;
German Consortium on Aggressive Meningiomas (KAM)</span><br />
<span class="medgenPMjournal">J Clin Oncol</span>
2021 Dec 1;39(34):3839-3852.
Epub 2021 Oct 7
doi: 10.1200/JCO.21.00784.
<span class="bold">PMID: </span><a href="/pubmed/34618539" target="_blank">34618539</a><a href="/pmc/articles/PMC8713596" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/33548878">Microsurgical resection of petroclival meningiomas treated with stereotactic radiosurgery to address persistent post-treatment trigeminal pain.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Muhsen BA,
Ali AM,
Jain A,
Ibrahim B,
Nagera E,
Borghei-Razavi H,
Adada B</span><br />
<span class="medgenPMjournal">Clin Neurol Neurosurg</span>
2021 Mar;202:106533.
Epub 2021 Jan 29
doi: 10.1016/j.clineuro.2021.106533.
<span class="bold">PMID: </span><a href="/pubmed/33548878" target="_blank">33548878</a></div>
<div class="nl"><a target="_blank" href="/pubmed/28314689">DNA methylation-based classification and grading system for meningioma: a multicentre, retrospective analysis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Sahm F,
Schrimpf D,
Stichel D,
Jones DTW,
Hielscher T,
Schefzyk S,
Okonechnikov K,
Koelsche C,
Reuss DE,
Capper D,
Sturm D,
Wirsching HG,
Berghoff AS,
Baumgarten P,
Kratz A,
Huang K,
Wefers AK,
Hovestadt V,
Sill M,
Ellis HP,
Kurian KM,
Okuducu AF,
Jungk C,
Drueschler K,
Schick M,
Bewerunge-Hudler M,
Mawrin C,
Seiz-Rosenhagen M,
Ketter R,
Simon M,
Westphal M,
Lamszus K,
Becker A,
Koch A,
Schittenhelm J,
Rushing EJ,
Collins VP,
Brehmer S,
Chavez L,
Platten M,
Hänggi D,
Unterberg A,
Paulus W,
Wick W,
Pfister SM,
Mittelbronn M,
Preusser M,
Herold-Mende C,
Weller M,
von Deimling A</span><br />
<span class="medgenPMjournal">Lancet Oncol</span>
2017 May;18(5):682-694.
Epub 2017 Mar 15
doi: 10.1016/S1470-2045(17)30155-9.
<span class="bold">PMID: </span><a href="/pubmed/28314689" target="_blank">28314689</a></div>
<div class="nl"><a target="_blank" href="/pubmed/22885109">Meningeal tumors histologically mimicking meningioma.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Barresi V,
Caffo M,
Branca G,
Caltabiano R,
Tuccari G</span><br />
<span class="medgenPMjournal">Pathol Res Pract</span>
2012 Oct 15;208(10):567-77.
Epub 2012 Aug 11
doi: 10.1016/j.prp.2012.07.002.
<span class="bold">PMID: </span><a href="/pubmed/22885109" target="_blank">22885109</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Meningioma%22%20AND%20Clinical%20prediction%20guides%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (4339)</a></div></div>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_systematic_reviews">Recent systematic reviews</h1><a sid="104" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="nl"><a target="_blank" href="/pubmed/37439884">Combined petrosal approach: a systematic review and meta-analysis of surgical complications.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Giammattei L,
Starnoni D,
Peters D,
George M,
Messerer M,
Daniel RT</span><br />
<span class="medgenPMjournal">Neurosurg Rev</span>
2023 Jul 13;46(1):172.
doi: 10.1007/s10143-023-02072-7.
<span class="bold">PMID: </span><a href="/pubmed/37439884" target="_blank">37439884</a><a href="/pmc/articles/PMC10344984" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/34339416">Menopausal hormone therapy and women's health: An umbrella review.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Zhang GQ,
Chen JL,
Luo Y,
Mathur MB,
Anagnostis P,
Nurmatov U,
Talibov M,
Zhang J,
Hawrylowicz CM,
Lumsden MA,
Critchley H,
Sheikh A,
Lundbäck B,
Lässer C,
Kankaanranta H,
Lee SH,
Nwaru BI</span><br />
<span class="medgenPMjournal">PLoS Med</span>
2021 Aug;18(8):e1003731.
Epub 2021 Aug 2
doi: 10.1371/journal.pmed.1003731.
<span class="bold">PMID: </span><a href="/pubmed/34339416" target="_blank">34339416</a><a href="/pmc/articles/PMC8366967" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/32118704">The prognostic role of Ki-67/MIB-1 in meningioma: A systematic review with meta-analysis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Liu N,
Song SY,
Jiang JB,
Wang TJ,
Yan CX</span><br />
<span class="medgenPMjournal">Medicine (Baltimore)</span>
2020 Feb;99(9):e18644.
doi: 10.1097/MD.0000000000018644.
<span class="bold">PMID: </span><a href="/pubmed/32118704" target="_blank">32118704</a><a href="/pmc/articles/PMC7478528" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/30656531">Incidental intracranial meningiomas: a systematic review and meta-analysis of prognostic factors and outcomes.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Islim AI,
Mohan M,
Moon RDC,
Srikandarajah N,
Mills SJ,
Brodbelt AR,
Jenkinson MD</span><br />
<span class="medgenPMjournal">J Neurooncol</span>
2019 Apr;142(2):211-221.
Epub 2019 Jan 17
doi: 10.1007/s11060-019-03104-3.
<span class="bold">PMID: </span><a href="/pubmed/30656531" target="_blank">30656531</a><a href="/pmc/articles/PMC6449307" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/27798857">Re-irradiation for Recurrent Primary Brain Tumors.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Nieder C,
Andratschke NH,
Grosu AL</span><br />
<span class="medgenPMjournal">Anticancer Res</span>
2016 Oct;36(10):4985-4995.
doi: 10.21873/anticanres.11067.
<span class="bold">PMID: </span><a href="/pubmed/27798857" target="_blank">27798857</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Meningioma%22%20AND%20systematic%5Bsb%5D%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (265)</a></div></div>
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<h2 class="offscreen_noflow">Supplemental Content</h2>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Table_of_contents">Table of contents</h1><a sid="113" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln"><ul id="my-toc"></ul></div>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Genetic_Testing_Registry">Genetic Testing Registry</h1><a sid="106" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C0025286%5bDISCUI%5d&amp;filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (12)</a></li>
<li><a href="/gtr/tests?term=C0025286%5bDISCUI%5d&amp;filter=method%3A2%5F15" target="_blank">Methylation analysis (2)</a></li>
<li><a href="/gtr/tests?term=C0025286%5bDISCUI%5d&amp;filter=method%3A2%5F9" target="_blank">Sequence analysis of select exons (1)</a></li>
<li><a href="/gtr/tests?term=C0025286%5bDISCUI%5d&amp;filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (12)</a></li>
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C0025286%5bDISCUI%5d" target="_blank">See all (15)</a></total></li>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_resources">Clinical resources</h1><a sid="119" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln"><ul><li><a href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=2495" target="_blank">Orphanet</a></li><li><a href="https://clinicaltrials.gov/search?cond=Meningioma" target="_blank">ClinicalTrials.gov</a></li></ul></div>
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<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22meningioma%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">PubMed</a><div class="help-popup">See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li><li><a target="_blank" href="/books/?term=((%22clinical%20guidelines%22%5BResource%20Type%5D)%20OR%20%22practice%20guideline%22%5BPublication%20Type%5D)%20AND%20(%22Meningioma%22)">Bookshelf</a><div class="help-popup">See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></ul><h3 class="subhead">Curated</h3><ul class="a_poppers"><li><a target="_blank" href="https://www.nice.org.uk/guidance/ng99">NICE, 2021</a><div>UK NICE Guideline NG99, Brain tumours (primary) and brain metastases in over 16s, 2021</div></li></ul></div>
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