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<meta name="keywords" content="C1621958, gbm, gbm (glioblastoma), gbm - glioblastoma multiforme, glioblastoma, glioblastoma multiforme, glm - glioblastoma multiforme, malignant glioblastoma, neoplastic process, spongioblastoma multiforme, 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="A tumor arising from glia in the central nervous system with macroscopic regions of necrosis and hemorrhage. Microscopically, glioblastoma multiforme is characterized by regions of pseudopalisading necrosis, pleomorphic nuclei and cells, and microvascular proliferation." /><meta name="robots" content="index,nofollow,noarchive" />
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<title>Glioblastoma multiforme (Concept Id: C1621958)
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<!--
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||
UID=301585
|
||
ConceptID=C1621958
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Glioblastoma multiforme<span class="h1sub">(GBM)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>301585</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) Click for more information."><span class="highlight" style="background-color:">C1621958</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Neoplastic Process</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
|
||
<td>GBM</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Glioblastoma multiforme (393563007); Spongioblastoma multiforme (1163375002); Glioblastoma multiforme (1163375002); Glioblastoma (1163375002); GBM - glioblastoma multiforme (1163375002); GLM - glioblastoma multiforme (1163375002); Malignant glioblastoma (1163375002)</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:0012174">HP:0012174</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/137800" target="_blank">137800</a></td></tr>
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</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>
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<div class="portlet mgSection" id="ID_100">
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<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>
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<div class="portlet_content ln">A tumor arising from glia in the central nervous system with macroscopic regions of necrosis and hemorrhage. Microscopically, glioblastoma multiforme is characterized by regions of pseudopalisading necrosis, pleomorphic nuclei and cells, and microvascular proliferation. [from <a title="Human Phenotype Ontology" href="http://www.human-phenotype-ontology.org" class="defSource" target="_blank">HPO</a>]</div>
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<div class="portlet mgSection" id="ID_118">
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<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>
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<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></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=C1621958[DISCUI]&test_type=Clinical&redirect=true" ref="ncbi_uid=301585">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=301585" target="_blank" href="/omim/137800">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&from_uid=301585" ref="ncbi_uid=301585">V</a></span></span><span class="TLline">Glioblastoma multiforme</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/21047" ref="tree=MeSH" title="MedGen record for Pathological Conditions, Signs and Symptoms">Pathological Conditions, Signs and Symptoms</a></span><ul><li><span class="TLline"><a href="/medgen/18325" ref="tree=MeSH" title="MedGen record for Pathological process">Pathological process</a></span><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/10294" ref="tree=MeSH" title="MedGen record for Neoplasm">Neoplasm</a></span><ul><li><span class="TLline"><a href="/medgen/14297" ref="tree=MeSH" title="MedGen record for Malignant neoplastic disease">Malignant neoplastic disease</a></span><ul><li><span class="TLline"><a href="/medgen/231373" ref="tree=MeSH" title="MedGen record for Anaplastic cancer">Anaplastic cancer</a></span><ul><li><span class="matched_ds">Glioblastoma multiforme</span><ul><li><span class="TLline"><a href="/medgen/124527" ref="tree=MeSH" title="MedGen record for Adult glioblastoma">Adult glioblastoma</a></span><ul><li><span class="TLline"><a href="/medgen/231034" ref="tree=MeSH" title="MedGen record for Adult Brain Glioblastoma">Adult Brain Glioblastoma</a></span><ul><li><span class="TLline"><a href="/medgen/277992" ref="tree=MeSH" title="MedGen record for Adult brainstem gliosarcoma">Adult brainstem gliosarcoma</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/284232" ref="tree=MeSH" title="MedGen record for Adult Giant Cell Glioblastoma">Adult Giant Cell Glioblastoma</a></span></li><li><span class="TLline"><a href="/medgen/323796" ref="tree=MeSH" title="MedGen record for Adult Gliosarcoma">Adult Gliosarcoma</a></span></li><li><span class="TLline"><a href="/medgen/107849" ref="tree=MeSH" title="MedGen record for Adult spinal cord glioblastoma">Adult spinal cord glioblastoma</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1718223" ref="tree=MeSH" title="MedGen record for Astrocytoma, IDH-mutant, grade 4">Astrocytoma, IDH-mutant, grade 4</a></span></li><li><span class="TLline"><a href="/medgen/138100" ref="tree=MeSH" title="MedGen record for Brain glioblastoma">Brain glioblastoma</a></span><ul><li><span class="TLline"><a href="/medgen/1639108" ref="tree=MeSH" title="MedGen record for Childhood Brain Glioblastoma">Childhood Brain Glioblastoma</a></span><ul><li><span class="TLline"><a href="/medgen/854376" ref="tree=MeSH" title="MedGen record for Childhood Brain Stem Gliosarcoma">Childhood Brain Stem Gliosarcoma</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/233556" ref="tree=MeSH" title="MedGen record for Infratentorial Glioblastoma">Infratentorial Glioblastoma</a></span><ul><li><span class="TLline"><a href="/medgen/231460" ref="tree=MeSH" title="MedGen record for Brain Stem Glioblastoma">Brain Stem Glioblastoma</a></span></li><li><span class="TLline"><a href="/medgen/234107" ref="tree=MeSH" title="MedGen record for Cerebellar Glioblastoma">Cerebellar Glioblastoma</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/234912" ref="tree=MeSH" title="MedGen record for Supratentorial Glioblastoma">Supratentorial Glioblastoma</a></span><ul><li><span class="TLline"><a href="/medgen/234110" ref="tree=MeSH" title="MedGen record for Cerebral Glioblastoma">Cerebral 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title="MedGen record for Childhood Gliosarcoma">Childhood Gliosarcoma</a></span><ul><li><span class="TLline"><a href="/medgen/857344" ref="tree=MeSH" title="MedGen record for Recurrent Childhood Gliosarcoma">Recurrent Childhood Gliosarcoma</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/857346" ref="tree=MeSH" title="MedGen record for Recurrent Childhood Glioblastoma">Recurrent Childhood Glioblastoma</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/42228" ref="tree=MeSH" title="MedGen record for Glioblastoma">Glioblastoma</a></span><ul><li><span class="TLline"><a href="/medgen/83169" ref="tree=MeSH" title="MedGen record for Giant cell glioblastoma">Giant cell glioblastoma</a></span><ul><li><span class="TLline"><a href="/medgen/1680625" ref="tree=MeSH" title="MedGen record for Recurrent Giant Cell Glioblastoma">Recurrent Giant Cell Glioblastoma</a></span></li><li><span class="TLline"><a href="/medgen/1781610" ref="tree=MeSH" title="MedGen record for Refractory Giant Cell Glioblastoma">Refractory Giant Cell Glioblastoma</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/64638" ref="tree=MeSH" title="MedGen record for Gliosarcoma">Gliosarcoma</a></span><ul><li><span class="TLline"><a href="/medgen/1390989" ref="tree=MeSH" title="MedGen record for Recurrent Gliosarcoma">Recurrent Gliosarcoma</a></span></li><li><span class="TLline"><a href="/medgen/1720516" ref="tree=MeSH" title="MedGen record for Refractory Gliosarcoma">Refractory Gliosarcoma</a></span></li><li><span class="TLline"><a href="/medgen/1739476" ref="tree=MeSH" title="MedGen record for Supratentorial Gliosarcoma">Supratentorial Gliosarcoma</a></span></li></ul></li></ul></li><li><span class="TLline"><a href="/medgen/819942" ref="tree=MeSH" title="MedGen record for Glioblastoma by Gene Expression Profile">Glioblastoma by Gene Expression Profile</a></span><ul><li><span class="TLline"><a href="/medgen/820001" ref="tree=MeSH" title="MedGen record for Classical glioblastoma">Classical glioblastoma</a></span></li><li><span class="TLline"><a href="/medgen/821870" ref="tree=MeSH" title="MedGen record for Mesenchymal glioblastoma">Mesenchymal glioblastoma</a></span></li><li><span class="TLline"><a href="/medgen/821580" ref="tree=MeSH" title="MedGen record for Neural glioblastoma">Neural glioblastoma</a></span></li><li><span class="TLline"><a href="/medgen/821212" ref="tree=MeSH" title="MedGen record for Proneural glioblastoma">Proneural glioblastoma</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/926566" ref="tree=MeSH" title="MedGen record for Glioblastoma with Primitive Neuronal Component">Glioblastoma with Primitive Neuronal Component</a></span></li><li><span class="TLline"><a href="/medgen/308044" ref="tree=MeSH" title="MedGen record for Glioblastoma, IDH-Wildtype">Glioblastoma, IDH-Wildtype</a></span><ul><li><span class="TLline"><a href="/medgen/927112" ref="tree=MeSH" title="MedGen record for Epithelioid Glioblastoma">Epithelioid Glioblastoma</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1762790" ref="tree=MeSH" title="MedGen record for Metastatic Glioblastoma">Metastatic Glioblastoma</a></span><ul><li><span class="TLline"><a href="/medgen/1758465" ref="tree=MeSH" title="MedGen record for Advanced Glioblastoma">Advanced Glioblastoma</a></span></li><li><span class="TLline"><a href="/medgen/1750065" ref="tree=MeSH" title="MedGen record for Locally Advanced Glioblastoma">Locally Advanced Glioblastoma</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1656515" ref="tree=MeSH" title="MedGen record for MGMT-Methylated Glioblastoma">MGMT-Methylated Glioblastoma</a></span></li><li><span class="TLline"><a href="/medgen/1392081" ref="tree=MeSH" title="MedGen record for MGMT-Unmethylated Glioblastoma">MGMT-Unmethylated Glioblastoma</a></span></li><li><span class="TLline"><a href="/medgen/457396" ref="tree=MeSH" title="MedGen record for Multifocal Glioblastomas">Multifocal Glioblastomas</a></span></li><li><span class="TLline"><a href="/medgen/925837" ref="tree=MeSH" title="MedGen record for Recurrent Glioblastoma">Recurrent Glioblastoma</a></span><ul><li><span class="TLline"><a href="/medgen/1716042" ref="tree=MeSH" title="MedGen record for Recurrent Small Cell Glioblastoma">Recurrent Small Cell Glioblastoma</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1645398" ref="tree=MeSH" title="MedGen record for Refractory Glioblastoma">Refractory Glioblastoma</a></span><ul><li><span class="TLline"><a href="/medgen/1708479" ref="tree=MeSH" title="MedGen record for Refractory Small Cell Glioblastoma">Refractory Small Cell Glioblastoma</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1715986" ref="tree=MeSH" title="MedGen record for Resectable Glioblastoma">Resectable Glioblastoma</a></span></li><li><span class="TLline"><a href="/medgen/311266" ref="tree=MeSH" title="MedGen record for Secondary Glioblastoma">Secondary Glioblastoma</a></span></li><li><span class="TLline"><a href="/medgen/696081" ref="tree=MeSH" title="MedGen record for Small Cell Glioblastoma">Small Cell Glioblastoma</a></span></li><li><span class="TLline"><a href="/medgen/1788246" ref="tree=MeSH" title="MedGen record for Unresectable Glioblastoma">Unresectable Glioblastoma</a></span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
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</div>
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<div class="portlet mgSection" id="ID_112">
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<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="portlet_content ln clinfeat">
|
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<div class="divPopper rprt" id="rdis_413414"><div><strong>Glioma susceptibility 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>413414</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) Click for more information.">C2750850</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
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||
<div class="spaceAbove">Gliomas are central nervous system neoplasms derived from glial cells and comprise astrocytomas, glioblastoma multiforme, oligodendrogliomas, ependymomas, and subependymomas. Glial cells can show various degrees of differentiation even within the same tumor (summary by Kyritsis et al., 2010). Ependymomas are rare glial tumors of the brain and spinal cord (Yokota et al., 2003). Subependymomas are unusual tumors believed to arise from the bipotential subependymal cell, which normally differentiates into either ependymal cells or astrocytes. They were characterized as a distinct entity by Scheinker (1945). They tend to be slow-growing, noninvasive, and located in the ventricular system, septum pellucidum, cerebral aqueduct, or proximal spinal cord (summary by Ryken et al., 1994). Gliomas are known to occur in association with several other well-defined hereditary tumor syndromes such as mismatch repair cancer syndrome (see 276300), melanoma-astrocytoma syndrome (155755), neurofibromatosis-1 (NF1; 162200) and neurofibromatosis-2 (see SWNV, 101000), and tuberous sclerosis (TSC1; 191100). Familial clustering of gliomas may occur in the absence of these tumor syndromes, however. Genetic Heterogeneity of Susceptibility to Glioma Other glioma susceptibilities include GLM2 (613028), caused by variation in the PTEN gene (601728) on chromosome 10q23; GLM3 (613029), caused by variation in the BRCA2 gene (600185) on chromosome 13q13; GLM4 (607248), mapped to chromosome 15q23-q26.3; GLM5 (613030), mapped to chromosome 9p21; GLM6 (613031), mapped to chromosome 20q13; GLM7 (613032), mapped to chromosome 8q24; GLM8 (613033), mapped to chromosome 5p15; and GLM9, caused by variation in the POT1 gene (606478) on chromosome 7q31. Somatic mutation, disruption, or copy number variation of the following genes or loci may also contribute to the formation of glioma: ERBB (EGFR; 131550), ERBB2 (164870), LGI1 (604619), GAS41 (602116), GLI (165220), DMBT1 (601969), IDH1 (147700), IDH2 (147650), BRAF (164757), PARK2 (602544), TP53 (191170), RB1 (614041), PIK3CA (171834), 10p15, 19q, and 17p13.3.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/413414">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_442777"><div><strong>Glioma susceptibility 3</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>442777</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) Click for more information.">C2751641</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
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<div class="spaceAbove">Any malignant glioma in which the cause of the disease is a mutation in the BRCA2 gene.</div>
|
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<div class="spaceAbove nowrap">See: <a href="/medgen/442777">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1748029"><div><strong>Mismatch repair cancer syndrome 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1748029</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) Click for more information.">C5399763</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
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<div class="spaceAbove">Lynch syndrome is characterized by an increased risk for colorectal cancer (CRC) and cancers of the endometrium, ovary, stomach, small bowel, urinary tract, biliary tract, brain (usually glioblastoma), skin (sebaceous adenomas, sebaceous carcinomas, and keratoacanthomas), pancreas, and prostate. Cancer risks and age of onset vary depending on the associated gene. Several other cancer types have been reported to occur in individuals with Lynch syndrome (e.g., breast, sarcomas, adrenocortical carcinoma). However, the data are not sufficient to demonstrate that the risk of developing these cancers is increased in individuals with Lynch syndrome.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1748029">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1750327"><div><strong>Mismatch repair cancer syndrome 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1750327</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) Click for more information.">C5436806</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Mismatch repair cancer syndrome-2 (MMRCS2) is an autosomal recessive childhood cancer predisposition syndrome characterized by hematologic malignancy, brain tumors, and gastrointestinal tumors. Multiple cafe-au-lait spots reminiscent of neurofibromatosis type I (NF1; 162200) may be present. Microsatellite instability may be detected in tumor samples (Muller et al., 2006). For a discussion of genetic heterogeneity of mismatch repair cancer syndrome (MMRCS), see MMRCS1 (276300).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1750327">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1733656"><div><strong>Mismatch repair cancer syndrome 3</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1733656</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) Click for more information.">C5436807</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Mismatch repair cancer syndrome-3 (MMRCS3) is an autosomal recessive childhood cancer predisposition syndrome characterized by brain tumors, hematologic malignancy, and gastrointestinal tumors. Multiple cafe-au-lait spots, axillary freckling, and, rarely, Lisch nodules reminiscent of neurofibromatosis type I (NF1; 162200) may be present (Hegde et al., 2005, Ostergaard et al., 2005). Microsatellite instability may be detected in tumor samples (Hegde et al., 2005). For a discussion of genetic heterogeneity of mismatch repair cancer syndrome, see MMRCS1 (276300).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1733656">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1745382"><div><strong>Mismatch repair cancer syndrome 4</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1745382</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) Click for more information.">C5436817</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Mismatch repair cancer syndrome-4 (MMRCS4) is an autosomal recessive childhood cancer predisposition syndrome characterized by early-onset leukemia/lymphoma, brain tumors, colorectal/gastrointestinal cancers, and other rare malignancies, including rhabdomyosarcoma (summary by Li et al., 2015). Cafe-au-lait spots are usually present (De Vos et al., 2006). For a discussion of genetic heterogeneity of mismatch repair cancer syndrome, see MMRCS1 (276300).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1745382">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_413414" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Glioma susceptibility 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_442777" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Glioma susceptibility 3</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1748029" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Mismatch repair cancer syndrome 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1750327" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Mismatch repair cancer syndrome 2</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1733656" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Mismatch repair cancer syndrome 3</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1745382" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Mismatch repair cancer syndrome 4</a></div></div>
|
||
</div>
|
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|
||
<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/37459849">Glioblastoma Multiforme: The Latest Diagnostics and Treatment Techniques.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Czarnywojtek A,
|
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Borowska M,
|
||
Dyrka K,
|
||
Van Gool S,
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||
Sawicka-Gutaj N,
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Moskal J,
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Kościński J,
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Graczyk P,
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Hałas T,
|
||
Lewandowska AM,
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||
Czepczyński R,
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||
Ruchała M</span><br />
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||
<span class="medgenPMjournal">Pharmacology</span>
|
||
2023;108(5):423-431.
|
||
Epub 2023 Jul 17
|
||
doi: 10.1159/000531319.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37459849" target="_blank">37459849</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33799798">Cancer Stem Cells: Significance in Origin, Pathogenesis and Treatment of Glioblastoma.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Biserova K,
|
||
Jakovlevs A,
|
||
Uljanovs R,
|
||
Strumfa I</span><br />
|
||
<span class="medgenPMjournal">Cells</span>
|
||
2021 Mar 11;10(3)
|
||
doi: 10.3390/cells10030621.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33799798" target="_blank">33799798</a><a href="/pmc/articles/PMC8000844" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25944528">Glioblastoma multiforme: Pathogenesis and treatment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Alifieris C,
|
||
Trafalis DT</span><br />
|
||
<span class="medgenPMjournal">Pharmacol Ther</span>
|
||
2015 Aug;152:63-82.
|
||
Epub 2015 May 2
|
||
doi: 10.1016/j.pharmthera.2015.05.005.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25944528" target="_blank">25944528</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22glioblastoma%20multiforme%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 (707)</a></div></div>
|
||
</div>
|
||
<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/31092387">Immune check-point in glioblastoma multiforme.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">De Felice F,
|
||
Pranno N,
|
||
Marampon F,
|
||
Musio D,
|
||
Salducci M,
|
||
Polimeni A,
|
||
Tombolini V</span><br />
|
||
<span class="medgenPMjournal">Crit Rev Oncol Hematol</span>
|
||
2019 Jun;138:60-69.
|
||
Epub 2019 Apr 4
|
||
doi: 10.1016/j.critrevonc.2019.03.019.
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Glioblastoma%20multiforme%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 (2993)</a></div></div>
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</div>
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<div class="portlet mgSection" id="ID_104">
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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="portlet_content ln">
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<div class="nl"><a target="_blank" href="/pubmed/34302977">Glioblastoma multiforme (GBM): An overview of current therapies and mechanisms of resistance.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Wu W,
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|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27310651">Association of the Extent of Resection With Survival in Glioblastoma: A Systematic Review and Meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Brown TJ,
|
||
Brennan MC,
|
||
Li M,
|
||
Church EW,
|
||
Brandmeir NJ,
|
||
Rakszawski KL,
|
||
Patel AS,
|
||
Rizk EB,
|
||
Suki D,
|
||
Sawaya R,
|
||
Glantz M</span><br />
|
||
<span class="medgenPMjournal">JAMA Oncol</span>
|
||
2016 Nov 1;2(11):1460-1469.
|
||
doi: 10.1001/jamaoncol.2016.1373.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27310651" target="_blank">27310651</a><a href="/pmc/articles/PMC6438173" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24328555">Temozolomide and radiotherapy for newly diagnosed glioblastoma multiforme: a systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yang LJ,
|
||
Zhou CF,
|
||
Lin ZX</span><br />
|
||
<span class="medgenPMjournal">Cancer Invest</span>
|
||
2014 Feb;32(2):31-6.
|
||
Epub 2013 Dec 14
|
||
doi: 10.3109/07357907.2013.861474.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24328555" target="_blank">24328555</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Glioblastoma%20multiforme%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 (91)</a></div></div>
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