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<meta name="keywords" content="C0025149, brain medulloblastoma, brca2, cerebellar medulloblastoma, cerebellum embryonal neoplasm, cns pnet, cpnet, ctnnb1, elp1, gpr161, infratentorial primitive neuroectodermal tumor, infratentorial primitive neuroectodermal tumour, localised primitive neuroectodermal tumour, localized primitive neuroectodermal tumor, mdb, mdb - medulloblastoma, medulloblastoma, medulloblastoma predisposition syndrome, medulloblastoma with extensive nodularity, medulloblastoma, autosomal recessive, autosomal dominant, somatic mutation, medulloblastoma, desmoplastic, medulloblastoma, desmoplastic, autosomal recessive, autosomal dominant, somatic mutation, medulloblastoma, malignant, medulloblastoma, somatic, medulloblastoma, sufu-related, medulloblastomas, neoplastic process, ptch2, sufu, 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="Medulloblastoma is the most common brain tumor in children. It accounts for 16% of all pediatric brain tumors, and 40% of all cerebellar tumors in childhood are medulloblastoma. Medulloblastoma occurs bimodally, with peak incidences between 3 and 4 years and 8 and 9 years of age. Approximately 10 to 15% of medulloblastomas are diagnosed in infancy. Medulloblastoma accounts for less than 1% of central nervous system (CNS) tumors in adults, with highest incidence in adults 20 to 34 years of age. In 1 to 2% of patients, medulloblastoma is associated with Gorlin syndrome (109400), a nevoid basal carcinoma syndrome. Medulloblastoma also occurs in up to 40% of patients with Turcot syndrome (see 276300). Medulloblastoma is thought to arise from neural stem cell precursors in the granular cell layer of the cerebellum. Standard treatment includes surgery, chemotherapy, and, depending on the age of the patient, radiation therapy (Crawford et al., 2007).&#13; Millard and De Braganca (2016) reviewed the histopathologic variants and molecular subgroups of medulloblastoma. Pretreatment prognosis of medulloblastoma has been refined by histopathologic subclassification into the following variants: large-cell medulloblastoma, anaplastic medulloblastoma, desmoplastic/nodular medulloblastoma, and medulloblastoma with extensive nodularity (MBEN). The latter 2 groups have been shown to have a significantly superior prognosis as compared to the large cell and anaplastic groups in young children. At the molecular level, medulloblastomas have been categorized into the following subgroups: wingless (WNT), sonic hedgehog (SHH), group 3, and group 4. Each subgroup is characterized by a unique set of genetics and gene expression as well as demographic and clinical features." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
UID=7517
ConceptID=C0025149
-->
<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Medulloblastoma<span class="h1sub">(MDB)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>7517</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.">C0025149</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Neoplastic Process</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
<td>MDB; MEDULLOBLASTOMA PREDISPOSITION SYNDROME; Medulloblastoma, somatic; Medulloblastoma, SUFU-Related</td></tr>
<tr><td><span class="bold">SNOMED CT: </span></td>
<td>Medulloblastoma (443333004); Medulloblastoma (1156923005); MDB - medulloblastoma (1156923005)</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><a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#target-gene-loc">Genes (locations):<img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a><div class="display-none" id="target-gene-loc">
Gene(s) directly associated with<br />
this condition or phenotype.</div></td>
<td><a target="_blank" title="BRCA2 - ID: 675 - NCBI Gene" href="/gene/675" class="medgenPMinfo">BRCA2</a> (13q13.1); <a target="_blank" title="CTNNB1 - ID: 1499 - NCBI Gene" href="/gene/1499" class="medgenPMinfo">CTNNB1</a> (3p22.1); <a target="_blank" title="ELP1 - ID: 8518 - NCBI Gene" href="/gene/8518" class="medgenPMinfo">ELP1</a> (9q31.3); <a target="_blank" title="GPR161 - ID: 23432 - NCBI Gene" href="/gene/23432" class="medgenPMinfo">GPR161</a> (1q24.2); <a target="_blank" title="PTCH2 - ID: 8643 - NCBI Gene" href="/gene/8643" class="medgenPMinfo">PTCH2</a> (1p34.1); <a target="_blank" title="SUFU - ID: 51684 - NCBI Gene" href="/gene/51684" class="medgenPMinfo">SUFU</a> (10q24.32)</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:0002885">HP:0002885</a></td></tr>
<tr><td>Monarch Initiative:</td>
<td><a href="https://monarchinitiative.org/disease/MONDO:0007959" target="_blank">MONDO:0007959</a></td></tr>
<tr><td>OMIM<span class="superscript">®</span>:</td>
<td><a href="https://omim.org/entry/155255" target="_blank">155255</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=616">ORPHA616</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">Medulloblastoma is the most common brain tumor in children. It accounts for 16% of all pediatric brain tumors, and 40% of all cerebellar tumors in childhood are medulloblastoma. Medulloblastoma occurs bimodally, with peak incidences between 3 and 4 years and 8 and 9 years of age. Approximately 10 to 15% of medulloblastomas are diagnosed in infancy. Medulloblastoma accounts for less than 1% of central nervous system (CNS) tumors in adults, with highest incidence in adults 20 to 34 years of age. In 1 to 2% of patients, medulloblastoma is associated with Gorlin syndrome (109400), a nevoid basal carcinoma syndrome. Medulloblastoma also occurs in up to 40% of patients with Turcot syndrome (see 276300). Medulloblastoma is thought to arise from neural stem cell precursors in the granular cell layer of the cerebellum. Standard treatment includes surgery, chemotherapy, and, depending on the age of the patient, radiation therapy (Crawford et al., 2007).&#13; Millard and De Braganca (2016) reviewed the histopathologic variants and molecular subgroups of medulloblastoma. Pretreatment prognosis of medulloblastoma has been refined by histopathologic subclassification into the following variants: large-cell medulloblastoma, anaplastic medulloblastoma, desmoplastic/nodular medulloblastoma, and medulloblastoma with extensive nodularity (MBEN). The latter 2 groups have been shown to have a significantly superior prognosis as compared to the large cell and anaplastic groups in young children. At the molecular level, medulloblastomas have been categorized into the following subgroups: wingless (WNT), sonic hedgehog (SHH), group 3, and group 4. Each subgroup is characterized by a unique set of genetics and gene expression as well as demographic and clinical features. [from <a title="Online Mendelian Inheritance in Man" href="http://www.omim.org" class="defSource" target="_blank">OMIM</a>]</div>
</div>
<div class="portlet mgSection" id="ID_102">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_features">Clinical features</h1><a sid="102" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln clinfeat"><strong>From HPO</strong><br />
<div class="divPopper rprt" id="clin_7517"><div><strong>Medulloblastoma</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>7517</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.">C0025149</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Neoplastic Process</dd></dl></div></div></div>
<div class="spaceAbove">Medulloblastoma is the most common brain tumor in children. It accounts for 16% of all pediatric brain tumors, and 40% of all cerebellar tumors in childhood are medulloblastoma. Medulloblastoma occurs bimodally, with peak incidences between 3 and 4 years and 8 and 9 years of age. Approximately 10 to 15% of medulloblastomas are diagnosed in infancy. Medulloblastoma accounts for less than 1% of central nervous system (CNS) tumors in adults, with highest incidence in adults 20 to 34 years of age. In 1 to 2% of patients, medulloblastoma is associated with Gorlin syndrome (109400), a nevoid basal carcinoma syndrome. Medulloblastoma also occurs in up to 40% of patients with Turcot syndrome (see 276300). Medulloblastoma is thought to arise from neural stem cell precursors in the granular cell layer of the cerebellum. Standard treatment includes surgery, chemotherapy, and, depending on the age of the patient, radiation therapy (Crawford et al., 2007).&#13; Millard and De Braganca (2016) reviewed the histopathologic variants and molecular subgroups of medulloblastoma. Pretreatment prognosis of medulloblastoma has been refined by histopathologic subclassification into the following variants: large-cell medulloblastoma, anaplastic medulloblastoma, desmoplastic/nodular medulloblastoma, and medulloblastoma with extensive nodularity (MBEN). The latter 2 groups have been shown to have a significantly superior prognosis as compared to the large cell and anaplastic groups in young children. At the molecular level, medulloblastomas have been categorized into the following subgroups: wingless (WNT), sonic hedgehog (SHH), group 3, and group 4. Each subgroup is characterized by a unique set of genetics and gene expression as well as demographic and clinical features.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/7517">Feature record</a> | <a href="/medgen?term=%22Medulloblastoma%22%5BClinical%20Features%5D%20OR%207517%5Buid%5D">Search on this feature</a></div></div><div class="TreeLite"><ul><li><span class="TLline">Abnormality of the nervous system</span><ul><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_7517" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Medulloblastoma</a></span></li></ul></li></ul></div></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="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0017638[DISCUI]&amp;test_type=Clinical" ref="ncbi_uid=9030">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</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=9030" ref="ncbi_uid=9030">V</a></span></span><span class="TLline"><a href="/medgen/9030" ref="tree=GTR&amp;ncbi_uid=9030&amp;link_uid=9030" title="View MedGen record for 'Glioma'">Glioma</a></span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0004114[DISCUI]&amp;test_type=Clinical" ref="ncbi_uid=438">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=438" 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&amp;from_uid=438" ref="ncbi_uid=438">V</a></span></span><span class="TLline"><a href="/medgen/438" ref="tree=GTR&amp;ncbi_uid=438&amp;link_uid=438" title="View MedGen record for 'Astrocytoma'">Astrocytoma</a></span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0017636[DISCUI]&amp;test_type=Clinical" ref="ncbi_uid=42228">C</a></span><span class="chiclet Rcolor round" title="Research test"><a target="_blank" href="/gtr/tests/?term=C0017636[DISCUI]&amp;test_type=Research&amp;redirect=true" ref="ncbi_uid=42228">R</a></span><span class="chiclet unavailable" title="OMIM">O</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=42228" ref="ncbi_uid=42228">V</a></span></span><span class="TLline"><a href="/medgen/42228" ref="tree=GTR&amp;ncbi_uid=42228&amp;link_uid=42228" title="View MedGen record for 'Glioblastoma'">Glioblastoma</a></span></li></ul></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0014474[DISCUI]&amp;test_type=Clinical" ref="ncbi_uid=41825">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=41825" 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&amp;from_uid=41825" ref="ncbi_uid=41825">V</a></span></span><span class="TLline"><a href="/medgen/41825" ref="tree=GTR&amp;ncbi_uid=41825&amp;link_uid=41825" title="View MedGen record for 'Ependymoma'">Ependymoma</a></span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=64637" target="_blank" href="/omim/137800">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/64637" ref="tree=GTR&amp;ncbi_uid=64637&amp;link_uid=64637" title="View MedGen record for 'Subependymal glioma'">Subependymal glioma</a></span></li></ul></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=CN305335[DISCUI]&amp;test_type=Clinical&amp;redirect=true" ref="ncbi_uid=986435">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/986435" ref="tree=GTR&amp;ncbi_uid=986435&amp;link_uid=986435" title="View MedGen record for 'Glioma susceptibility'">Glioma susceptibility</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C2750850[DISCUI]&amp;test_type=Clinical" ref="ncbi_uid=413414">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=413414" 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&amp;from_uid=413414" ref="ncbi_uid=413414">V</a></span></span><span class="TLline"><a href="/medgen/413414" ref="tree=GTR&amp;ncbi_uid=413414&amp;link_uid=413414" title="View MedGen record for 'Glioma susceptibility 1'">Glioma susceptibility 1</a></span></li><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0025149[DISCUI]&amp;test_type=Clinical" ref="ncbi_uid=7517">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=7517" target="_blank" href="/omim/155255">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=7517" ref="ncbi_uid=7517">V</a></span></span><span class="TLline">Medulloblastoma</span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0547065[DISCUI]&amp;test_type=Clinical" ref="ncbi_uid=154285">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/154285" ref="tree=GTR&amp;ncbi_uid=154285&amp;link_uid=154285" title="View MedGen record for 'Oligoastrocytoma'">Oligoastrocytoma</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0028945[DISCUI]&amp;test_type=Clinical" ref="ncbi_uid=45190">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=45190" 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&amp;from_uid=45190" ref="ncbi_uid=45190">V</a></span></span><span class="TLline"><a href="/medgen/45190" ref="tree=GTR&amp;ncbi_uid=45190&amp;link_uid=45190" title="View MedGen record for 'Oligodendroglioma'">Oligodendroglioma</a></span></li></ul></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><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/14214" ref="tree=MeSH" title="MedGen record for Brain disorder">Brain disorder</a></span><ul><li><span class="TLline"><a href="/medgen/40186" ref="tree=MeSH" title="MedGen record for Cerebellar disorder">Cerebellar disorder</a></span><ul><li><span class="TLline"><a href="/medgen/40187" ref="tree=MeSH" title="MedGen record for Cerebellar neoplasm">Cerebellar neoplasm</a></span><ul><li><span class="TLline"><a href="/medgen/57797" ref="tree=MeSH" title="MedGen record for Cancer of cerebellum">Cancer of cerebellum</a></span><ul><li><span class="matched_ds">Medulloblastoma</span><ul><li><span class="TLline"><a href="/medgen/78898" ref="tree=MeSH" title="MedGen record for Adult medulloblastoma">Adult medulloblastoma</a></span></li><li><span class="TLline"><a href="/medgen/457446" ref="tree=MeSH" title="MedGen record for Anaplastic Medulloblastoma">Anaplastic Medulloblastoma</a></span></li><li><span class="TLline"><a href="/medgen/1389864" ref="tree=MeSH" title="MedGen record for Anaplastic/large cell medulloblastoma">Anaplastic/large cell medulloblastoma</a></span></li><li><span class="TLline"><a href="/medgen/870487" ref="tree=MeSH" title="MedGen record for Cerebellar medulloblastoma">Cerebellar medulloblastoma</a></span></li><li><span class="TLline"><a href="/medgen/232044" ref="tree=MeSH" title="MedGen record for Cerebellar vermis medulloblastoma">Cerebellar vermis medulloblastoma</a></span></li><li><span class="TLline"><a href="/medgen/75829" ref="tree=MeSH" title="MedGen record for Childhood medulloblastoma">Childhood medulloblastoma</a></span><ul><li><span class="TLline"><a href="/medgen/137886" ref="tree=MeSH" title="MedGen record for Recurrent Childhood Medulloblastoma">Recurrent Childhood Medulloblastoma</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/353541" ref="tree=MeSH" title="MedGen record for Classic medulloblastoma">Classic medulloblastoma</a></span></li><li><span class="TLline"><a href="/medgen/148272" ref="tree=MeSH" title="MedGen record for Desmoplastic/nodular medulloblastoma">Desmoplastic/nodular medulloblastoma</a></span></li><li><span class="TLline"><a href="/medgen/234263" ref="tree=MeSH" title="MedGen record for Familial Adenomatous Polyposis Associated Medulloblastoma">Familial Adenomatous Polyposis Associated Medulloblastoma</a></span></li><li><span class="TLline"><a href="/medgen/1653585" ref="tree=MeSH" title="MedGen record for Fourth Ventricle Medulloblastoma">Fourth Ventricle Medulloblastoma</a></span></li><li><span class="TLline"><a href="/medgen/226852" ref="tree=MeSH" title="MedGen record for Large cell medulloblastoma">Large cell medulloblastoma</a></span></li><li><span class="TLline"><a href="/medgen/233759" ref="tree=MeSH" title="MedGen record for Medulloblastoma with extensive nodularity">Medulloblastoma with extensive nodularity</a></span></li><li><span class="TLline"><a href="/medgen/1371227" ref="tree=MeSH" title="MedGen record for Medulloblastoma, Not Otherwise Specified">Medulloblastoma, Not Otherwise Specified</a></span></li><li><span class="TLline"><a href="/medgen/104731" ref="tree=MeSH" title="MedGen record for Medullomyoblastoma with myogenic differentiation">Medullomyoblastoma with myogenic differentiation</a></span></li><li><span class="TLline"><a href="/medgen/224818" ref="tree=MeSH" title="MedGen record for Melanotic medulloblastoma">Melanotic medulloblastoma</a></span></li><li><span class="TLline"><a href="/medgen/1783727" ref="tree=MeSH" title="MedGen record for Metastatic Medulloblastoma">Metastatic Medulloblastoma</a></span><ul><li><span class="TLline"><a href="/medgen/277356" ref="tree=MeSH" title="MedGen record for Medulloblastoma with Leptomeningeal Spread">Medulloblastoma with Leptomeningeal Spread</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/277414" ref="tree=MeSH" title="MedGen record for Nevoid Basal Cell Carcinoma Syndrome Associated Medulloblastoma">Nevoid Basal Cell Carcinoma Syndrome Associated Medulloblastoma</a></span></li><li><span class="TLline"><a href="/medgen/235539" ref="tree=MeSH" title="MedGen record for Recurrent Medulloblastoma">Recurrent Medulloblastoma</a></span><ul><li><span class="TLline"><a href="/medgen/1633055" ref="tree=MeSH" title="MedGen record for Recurrent Medulloblastoma, SHH-Activated">Recurrent Medulloblastoma, SHH-Activated</a></span></li><li><span class="TLline"><a href="/medgen/1793138" ref="tree=MeSH" title="MedGen record for Recurrent Medulloblastoma, WNT-Activated">Recurrent Medulloblastoma, WNT-Activated</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1642493" ref="tree=MeSH" title="MedGen record for Refractory Medulloblastoma">Refractory Medulloblastoma</a></span><ul><li><span class="TLline"><a href="/medgen/1642267" ref="tree=MeSH" title="MedGen record for Refractory Medulloblastoma, SHH-Activated">Refractory Medulloblastoma, SHH-Activated</a></span></li><li><span class="TLline"><a href="/medgen/1793137" ref="tree=MeSH" title="MedGen record for Refractory Medulloblastoma, WNT-Activated">Refractory Medulloblastoma, WNT-Activated</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/233916" ref="tree=MeSH" title="MedGen record for Region 17p13 Allelic Loss Associated Medulloblastoma">Region 17p13 Allelic Loss Associated Medulloblastoma</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=3751&amp;search=Disease_Classif_Simple&amp;new=1" class="ital bold">this link</a> to review classifications for <span class="ital">Medulloblastoma</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>
<div class="portlet_content ln clinfeat">
<div class="divPopper rprt" id="rdis_2554"><div><strong>Gorlin syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>2554</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.">C0004779</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Neoplastic Process</dd></dl></div></div></div>
<div class="spaceAbove">Nevoid basal cell carcinoma syndrome (NBCCS) is characterized by the development of multiple jaw keratocysts, frequently beginning in the second decade of life, and/or basal cell carcinomas (BCCs), usually from the third decade onward. Many individuals have a recognizable appearance with macrocephaly, frontal bossing, coarse facial features, and facial milia. Most individuals have skeletal anomalies (e.g., bifid ribs, wedge-shaped vertebrae). Ectopic calcification, particularly in the falx, is present in 90% of affected individuals by age 30 years. Cardiac and ovarian fibromas occur in approximately 2% and 20% of individuals, respectively. Approximately 5% of all children with NBCCS develop medulloblastoma (primitive neuroectodermal tumor), generally the desmoplastic subtype. The risk of developing medulloblastoma is substantially higher in individuals with an SUFU pathogenic variant (33%) than in those with a PTCH1 pathogenic variant (&lt;2%). Peak incidence is at age one to two years. Life expectancy in NBCCS is not significantly different from average.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/2554">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_7517"><div><strong>Medulloblastoma</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>7517</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.">C0025149</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Neoplastic Process</dd></dl></div></div></div>
<div class="spaceAbove">Medulloblastoma is the most common brain tumor in children. It accounts for 16% of all pediatric brain tumors, and 40% of all cerebellar tumors in childhood are medulloblastoma. Medulloblastoma occurs bimodally, with peak incidences between 3 and 4 years and 8 and 9 years of age. Approximately 10 to 15% of medulloblastomas are diagnosed in infancy. Medulloblastoma accounts for less than 1% of central nervous system (CNS) tumors in adults, with highest incidence in adults 20 to 34 years of age. In 1 to 2% of patients, medulloblastoma is associated with Gorlin syndrome (109400), a nevoid basal carcinoma syndrome. Medulloblastoma also occurs in up to 40% of patients with Turcot syndrome (see 276300). Medulloblastoma is thought to arise from neural stem cell precursors in the granular cell layer of the cerebellum. Standard treatment includes surgery, chemotherapy, and, depending on the age of the patient, radiation therapy (Crawford et al., 2007).&#13; Millard and De Braganca (2016) reviewed the histopathologic variants and molecular subgroups of medulloblastoma. Pretreatment prognosis of medulloblastoma has been refined by histopathologic subclassification into the following variants: large-cell medulloblastoma, anaplastic medulloblastoma, desmoplastic/nodular medulloblastoma, and medulloblastoma with extensive nodularity (MBEN). The latter 2 groups have been shown to have a significantly superior prognosis as compared to the large cell and anaplastic groups in young children. At the molecular level, medulloblastomas have been categorized into the following subgroups: wingless (WNT), sonic hedgehog (SHH), group 3, and group 4. Each subgroup is characterized by a unique set of genetics and gene expression as well as demographic and clinical features.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/7517">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_140771"><div><strong>Microcephaly, normal intelligence and immunodeficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>140771</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.">C0398791</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Nijmegen breakage syndrome (NBS) is characterized by progressive microcephaly, early growth deficiency that improves with age, recurrent respiratory infections, an increased risk for malignancy (primarily lymphoma), and premature ovarian failure in females. Developmental milestones are attained at the usual time during the first year; however, borderline delays in development and hyperactivity may be observed in early childhood. Intellectual abilities tend to decline over time. Recurrent pneumonia and bronchitis may result in respiratory failure and early death. Other reported malignancies include solid tumors (e.g., medulloblastoma, glioma, rhabdomyosarcoma).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/140771">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_266105"><div><strong>Pleuropulmonary blastoma</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>266105</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.">C1266144</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Neoplastic Process</dd></dl></div></div></div>
<div class="spaceAbove">DICER1 tumor predisposition (DICER1) is characterized by an increased risk for pleuropulmonary blastoma (PPB), pulmonary cysts, thyroid gland neoplasia (multinodular goiter, adenomas, and/or thyroid cancer), ovarian tumors (Sertoli-Leydig cell tumor, gynandroblastoma, and sarcoma), and cystic nephroma. Less commonly observed tumors include ciliary body medulloepithelioma, nasal chondromesenchymal hamartoma, embryonal rhabdomyosarcoma, pituitary blastoma, pineoblastoma, central nervous system (CNS) sarcoma, other CNS tumors, and presacral malignant teratoid tumor. The majority of tumors occur in individuals younger than age 40 years. PPB typically presents in infants and children younger than age six years. Ovarian sex cord-stromal tumors are most often diagnosed before age 40 years. Cystic nephroma generally presents in young children but has also been reported in adolescents. Additional clinical features that may be seen include macrocephaly, ocular abnormalities, structural anomalies of the kidney and collecting system, and dental anomalies (bulbous crowns).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/266105">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_372133"><div><strong>Fanconi anemia complementation group N</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>372133</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.">C1835817</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Fanconi anemia (FA) is characterized by physical abnormalities, bone marrow failure, and increased risk for malignancy. Physical abnormalities, present in approximately 75% of affected individuals, include one or more of the following: short stature, abnormal skin pigmentation, skeletal malformations of the upper and/or lower limbs, microcephaly, and ophthalmic and genitourinary tract anomalies. Progressive bone marrow failure with pancytopenia typically presents in the first decade, often initially with thrombocytopenia or leukopenia. The incidence of acute myeloid leukemia is 13% by age 50 years. Solid tumors – particularly of the head and neck, skin, and genitourinary tract – are more common in individuals with FA.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/372133">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_322892"><div><strong>Rhabdoid tumor predisposition syndrome 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>322892</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.">C1836327</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">The rhabdoid tumor predisposition syndrome is an autosomal dominant cancer syndrome predisposing to renal or extrarenal malignant rhabdoid tumors and to a variety of tumors of the central nervous system, including choroid plexus carcinoma, medulloblastoma, and central primitive neuroectodermal tumors (Sevenet et al., 1999).&#13; Rhabdoid tumors are a highly malignant group of neoplasms that usually occur in children less than 2 years of age. Malignant rhabdoid tumors (MRTs) of the kidney were first described as a sarcomatous variant of Wilms tumors (Beckwith and Palmer, 1978). Later, extrarenal rhabdoid tumor was reported in numerous locations, including the central nervous system (CNS) (Parham et al., 1994). Classification has been difficult because of considerable variation in the histologic and immunologic characteristics within and between rhabdoid tumors of the liver, soft tissues, and CNS. In the CNS, rhabdoid tumors may be pure rhabdoid tumors or a variant that has been designated atypical teratoid tumor (AT/RT).&#13; Genetic Heterogeneity of Rhabdoid Tumor Predisposition Syndrome&#13; See also RTPS2 (613325), caused by germline mutation in the SMARCA4 gene (603254) on chromosome 19p13.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/322892">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_398651"><div><strong>Familial adenomatous polyposis 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>398651</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.">C2713442</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">APC-associated polyposis conditions include (classic or attenuated) familial adenomatous polyposis (FAP) and gastric adenocarcinoma and proximal polyposis of the stomach (GAPPS). FAP is a colorectal cancer (CRC) predisposition syndrome that can manifest in either classic or attenuated form. Classic FAP is characterized by hundreds to thousands of adenomatous colonic polyps, beginning on average at age 16 years (range 7-36 years). For those with the classic form of FAP, 95% of individuals have polyps by age 35 years; CRC is inevitable without colectomy. The mean age of CRC diagnosis in untreated individuals is 39 years (range 34-43 years). The attenuated form is characterized by multiple colonic polyps (average of 30), more proximally located polyps, and a diagnosis of CRC at a later age than in classic FAP. For those with an attenuated form, there is a 70% lifetime risk of CRC and the mean age of diagnosis is 50-55 years. Extracolonic manifestations are variably present and include polyps of the stomach and duodenum, osteomas, dental abnormalities, congenital hypertrophy of the retinal pigment epithelium (CHRPE), benign cutaneous lesions, desmoid tumors, adrenal masses, and other associated cancers. GAPPS is characterized by proximal gastric polyposis, increased risk of gastric adenocarcinoma, and no duodenal or colonic involvement in most individuals reported.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/398651">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)&#10;Click for more information.">C2751641</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 BRCA2 gene.</div>
<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)&#10;Click for more information.">C5399763</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<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_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="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_398651" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Familial adenomatous polyposis 1</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_372133" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Fanconi anemia complementation group N</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_2554" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Gorlin syndrome</a></div><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (10)', lessText: 'Show less', nodeBefore: 0"><span id="clinMore">
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_7517" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Medulloblastoma</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_140771" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Microcephaly, normal intelligence and immunodeficiency</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_266105" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Pleuropulmonary blastoma</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_322892" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Rhabdoid tumor predisposition syndrome 1</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/31797797">EANO-EURACAN clinical practice guideline for diagnosis, treatment, and follow-up of post-pubertal and adult patients with medulloblastoma.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Franceschi E,
Hofer S,
Brandes AA,
Frappaz D,
Kortmann RD,
Bromberg J,
Dangouloff-Ros V,
Boddaert N,
Hattingen E,
Wiestler B,
Clifford SC,
Figarella-Branger D,
Giangaspero F,
Haberler C,
Pietsch T,
Pajtler KW,
Pfister SM,
Guzman R,
Stummer W,
Combs SE,
Seidel C,
Beier D,
McCabe MG,
Grotzer M,
Laigle-Donadey F,
Stücklin ASG,
Idbaih A,
Preusser M,
van den Bent M,
Weller M,
Hau P</span><br />
<span class="medgenPMjournal">Lancet Oncol</span>
2019 Dec;20(12):e715-e728.
doi: 10.1016/S1470-2045(19)30669-2.
<span class="bold">PMID: </span><a href="/pubmed/31797797" target="_blank">31797797</a></div>
<div class="nl"><a target="_blank" href="/pubmed/30835699">Childhood brain tumors: current management, biological insights, and future directions.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Pollack IF,
Agnihotri S,
Broniscer A</span><br />
<span class="medgenPMjournal">J Neurosurg Pediatr</span>
2019 Mar 1;23(3):261-273.
doi: 10.3171/2018.10.PEDS18377.
<span class="bold">PMID: </span><a href="/pubmed/30835699" target="_blank">30835699</a><a href="/pmc/articles/PMC6823600" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/27437672">Treatment of medulloblastoma in children and adolescents.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Collange NZ,
Brito Sde A,
Campos RR,
Santos EA,
Botelho RV;
Sociedade Brasileira de Neurocirurgia</span><br />
<span class="medgenPMjournal">Rev Assoc Med Bras (1992)</span>
2016 Jul;62(4):298-302.
doi: 10.1590/1806-9282.62.04.298.
<span class="bold">PMID: </span><a href="/pubmed/27437672" target="_blank">27437672</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22medulloblastoma%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 (435)</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.nccn.org/professionals/physician_gls/pdf/cns.pdf" target="_blank">NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®) Central Nervous System Cancers, 2023</a></h3>
</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/37943476">Recent Advances in Pediatric Medulloblastoma.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Jackson K,
Packer RJ</span><br />
<span class="medgenPMjournal">Curr Neurol Neurosci Rep</span>
2023 Dec;23(12):841-848.
Epub 2023 Nov 9
doi: 10.1007/s11910-023-01316-9.
<span class="bold">PMID: </span><a href="/pubmed/37943476" target="_blank">37943476</a><a href="/pmc/articles/PMC10724301" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/32239782">Pathology, diagnostics, and classification of medulloblastoma.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Orr BA</span><br />
<span class="medgenPMjournal">Brain Pathol</span>
2020 May;30(3):664-678.
doi: 10.1111/bpa.12837.
<span class="bold">PMID: </span><a href="/pubmed/32239782" target="_blank">32239782</a><a href="/pmc/articles/PMC7317787" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/28953021">Understanding medulloblastoma.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Quinlan A,
Rizzolo D</span><br />
<span class="medgenPMjournal">JAAPA</span>
2017 Oct;30(10):30-36.
doi: 10.1097/01.JAA.0000524717.71084.50.
<span class="bold">PMID: </span><a href="/pubmed/28953021" target="_blank">28953021</a></div>
<div class="nl"><a target="_blank" href="/pubmed/26336203">Medulloblastoma.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Millard NE,
De Braganca KC</span><br />
<span class="medgenPMjournal">J Child Neurol</span>
2016 Oct;31(12):1341-53.
Epub 2015 Sep 2
doi: 10.1177/0883073815600866.
<span class="bold">PMID: </span><a href="/pubmed/26336203" target="_blank">26336203</a><a href="/pmc/articles/PMC4995146" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/8397534">Medulloblastoma.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Hirsch JF,
Hoppe-Hirsch E</span><br />
<span class="medgenPMjournal">Adv Tech Stand Neurosurg</span>
1993;20:165-96.
doi: 10.1007/978-3-7091-6912-4_5.
<span class="bold">PMID: </span><a href="/pubmed/8397534" target="_blank">8397534</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Medulloblastoma%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 (3090)</a></div><h3 class="subhead">Diagnosis</h3>
<div class="nl"><a target="_blank" href="/pubmed/35168417">Medulloblastoma: WHO 2021 and Beyond.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Cotter JA,
Hawkins C</span><br />
<span class="medgenPMjournal">Pediatr Dev Pathol</span>
2022 Jan-Feb;25(1):23-33.
doi: 10.1177/10935266211018931.
<span class="bold">PMID: </span><a href="/pubmed/35168417" target="_blank">35168417</a></div>
<div class="nl"><a target="_blank" href="/pubmed/32239782">Pathology, diagnostics, and classification of medulloblastoma.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Orr BA</span><br />
<span class="medgenPMjournal">Brain Pathol</span>
2020 May;30(3):664-678.
doi: 10.1111/bpa.12837.
<span class="bold">PMID: </span><a href="/pubmed/32239782" target="_blank">32239782</a><a href="/pmc/articles/PMC7317787" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/30765710">Medulloblastoma.</a></div>
<div class="portlet_content ln"><span class="medgenPMjournal">Nat Rev Dis Primers</span>
2019 Feb 14;5(1):12.
doi: 10.1038/s41572-019-0067-2.
<span class="bold">PMID: </span><a href="/pubmed/30765710" target="_blank">30765710</a></div>
<div class="nl"><a target="_blank" href="/pubmed/29891066">Cerebellar tumors.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Guerreiro Stucklin AS,
Grotzer MA</span><br />
<span class="medgenPMjournal">Handb Clin Neurol</span>
2018;155:289-299.
doi: 10.1016/B978-0-444-64189-2.00019-6.
<span class="bold">PMID: </span><a href="/pubmed/29891066" target="_blank">29891066</a></div>
<div class="nl"><a target="_blank" href="/pubmed/26336203">Medulloblastoma.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Millard NE,
De Braganca KC</span><br />
<span class="medgenPMjournal">J Child Neurol</span>
2016 Oct;31(12):1341-53.
Epub 2015 Sep 2
doi: 10.1177/0883073815600866.
<span class="bold">PMID: </span><a href="/pubmed/26336203" target="_blank">26336203</a><a href="/pmc/articles/PMC4995146" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Medulloblastoma%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 (3166)</a></div><h3 class="subhead">Therapy</h3>
<div class="nl"><a target="_blank" href="/pubmed/34292305">Efficacy of Carboplatin and Isotretinoin in Children With High-risk Medulloblastoma: A Randomized Clinical Trial From the Children's Oncology Group.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Leary SES,
Packer RJ,
Li Y,
Billups CA,
Smith KS,
Jaju A,
Heier L,
Burger P,
Walsh K,
Han Y,
Embry L,
Hadley J,
Kumar R,
Michalski J,
Hwang E,
Gajjar A,
Pollack IF,
Fouladi M,
Northcott PA,
Olson JM</span><br />
<span class="medgenPMjournal">JAMA Oncol</span>
2021 Sep 1;7(9):1313-1321.
doi: 10.1001/jamaoncol.2021.2224.
<span class="bold">PMID: </span><a href="/pubmed/34292305" target="_blank">34292305</a><a href="/pmc/articles/PMC8299367" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/32095940">Pediatric medulloblastoma in the molecular era: what are the surgical implications?</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Kameda-Smith MM</span><br />
<span class="medgenPMjournal">Cancer Metastasis Rev</span>
2020 Mar;39(1):235-243.
doi: 10.1007/s10555-020-09865-y.
<span class="bold">PMID: </span><a href="/pubmed/32095940" target="_blank">32095940</a></div>
<div class="nl"><a target="_blank" href="/pubmed/25768332">Medulloblastoma development: tumor biology informs treatment decisions.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Gopalakrishnan V,
Tao RH,
Dobson T,
Brugmann W,
Khatua S</span><br />
<span class="medgenPMjournal">CNS Oncol</span>
2015;4(2):79-89.
doi: 10.2217/cns.14.58.
<span class="bold">PMID: </span><a href="/pubmed/25768332" target="_blank">25768332</a><a href="/pmc/articles/PMC4408195" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/20462836">Evidence in medulloblastomas.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Navajas A,
Giralt J</span><br />
<span class="medgenPMjournal">Clin Transl Oncol</span>
2010 Apr;12(4):271-7.
doi: 10.1007/s12094-010-0503-y.
<span class="bold">PMID: </span><a href="/pubmed/20462836" target="_blank">20462836</a></div>
<div class="nl"><a target="_blank" href="/pubmed/20146217">Medulloblastoma in young children.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Rutkowski S,
Cohen B,
Finlay J,
Luksch R,
Ridola V,
Valteau-Couanet D,
Hara J,
Garre ML,
Grill J</span><br />
<span class="medgenPMjournal">Pediatr Blood Cancer</span>
2010 Apr;54(4):635-7.
doi: 10.1002/pbc.22372.
<span class="bold">PMID: </span><a href="/pubmed/20146217" target="_blank">20146217</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Medulloblastoma%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 (2070)</a></div><h3 class="subhead">Prognosis</h3>
<div class="nl"><a target="_blank" href="/pubmed/31797797">EANO-EURACAN clinical practice guideline for diagnosis, treatment, and follow-up of post-pubertal and adult patients with medulloblastoma.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Franceschi E,
Hofer S,
Brandes AA,
Frappaz D,
Kortmann RD,
Bromberg J,
Dangouloff-Ros V,
Boddaert N,
Hattingen E,
Wiestler B,
Clifford SC,
Figarella-Branger D,
Giangaspero F,
Haberler C,
Pietsch T,
Pajtler KW,
Pfister SM,
Guzman R,
Stummer W,
Combs SE,
Seidel C,
Beier D,
McCabe MG,
Grotzer M,
Laigle-Donadey F,
Stücklin ASG,
Idbaih A,
Preusser M,
van den Bent M,
Weller M,
Hau P</span><br />
<span class="medgenPMjournal">Lancet Oncol</span>
2019 Dec;20(12):e715-e728.
doi: 10.1016/S1470-2045(19)30669-2.
<span class="bold">PMID: </span><a href="/pubmed/31797797" target="_blank">31797797</a></div>
<div class="nl"><a target="_blank" href="/pubmed/24389035">Recent developments and current concepts in medulloblastoma.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Gerber NU,
Mynarek M,
von Hoff K,
Friedrich C,
Resch A,
Rutkowski S</span><br />
<span class="medgenPMjournal">Cancer Treat Rev</span>
2014 Apr;40(3):356-65.
Epub 2013 Dec 6
doi: 10.1016/j.ctrv.2013.11.010.
<span class="bold">PMID: </span><a href="/pubmed/24389035" target="_blank">24389035</a></div>
<div class="nl"><a target="_blank" href="/pubmed/21129995">Childhood medulloblastoma.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Massimino M,
Giangaspero F,
Garrè ML,
Gandola L,
Poggi G,
Biassoni V,
Gatta G,
Rutkowski S</span><br />
<span class="medgenPMjournal">Crit Rev Oncol Hematol</span>
2011 Jul;79(1):65-83.
Epub 2010 Dec 3
doi: 10.1016/j.critrevonc.2010.07.010.
<span class="bold">PMID: </span><a href="/pubmed/21129995" target="_blank">21129995</a></div>
<div class="nl"><a target="_blank" href="/pubmed/9189939">Radiotherapeutic management of medulloblastoma.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Paulino AC</span><br />
<span class="medgenPMjournal">Oncology (Williston Park)</span>
1997 Jun;11(6):813-23; discussion 823, 827-8, 831.
<span class="bold">PMID: </span><a href="/pubmed/9189939" target="_blank">9189939</a></div>
<div class="nl"><a target="_blank" href="/pubmed/8321384">Medulloblastomas.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Gökalp HZ,
Arasil E,
Kanpolat Y,
Erdogan A,
Deda H,
Unlü A</span><br />
<span class="medgenPMjournal">Neurochirurgia (Stuttg)</span>
1993 May;36(3):87-9.
doi: 10.1055/s-2008-1053802.
<span class="bold">PMID: </span><a href="/pubmed/8321384" target="_blank">8321384</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Medulloblastoma%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 (2709)</a></div><h3 class="subhead">Clinical prediction guides</h3>
<div class="nl"><a target="_blank" href="/pubmed/33405951">Outcomes by Clinical and Molecular Features in Children With Medulloblastoma Treated With Risk-Adapted Therapy: Results of an International Phase III Trial (SJMB03).</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Gajjar A,
Robinson GW,
Smith KS,
Lin T,
Merchant TE,
Chintagumpala M,
Mahajan A,
Su J,
Bouffet E,
Bartels U,
Schechter T,
Hassall T,
Robertson T,
Nicholls W,
Gururangan S,
Schroeder K,
Sullivan M,
Wheeler G,
Hansford JR,
Kellie SJ,
McCowage G,
Cohn R,
Fisher MJ,
Krasin MJ,
Stewart CF,
Broniscer A,
Buchhalter I,
Tatevossian RG,
Orr BA,
Neale G,
Klimo P Jr,
Boop F,
Srinivasan A,
Pfister SM,
Gilbertson RJ,
Onar-Thomas A,
Ellison DW,
Northcott PA</span><br />
<span class="medgenPMjournal">J Clin Oncol</span>
2021 Mar 1;39(7):822-835.
Epub 2021 Jan 6
doi: 10.1200/JCO.20.01372.
<span class="bold">PMID: </span><a href="/pubmed/33405951" target="_blank">33405951</a><a href="/pmc/articles/PMC10166353" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/32095940">Pediatric medulloblastoma in the molecular era: what are the surgical implications?</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Kameda-Smith MM</span><br />
<span class="medgenPMjournal">Cancer Metastasis Rev</span>
2020 Mar;39(1):235-243.
doi: 10.1007/s10555-020-09865-y.
<span class="bold">PMID: </span><a href="/pubmed/32095940" target="_blank">32095940</a></div>
<div class="nl"><a target="_blank" href="/pubmed/28386677">Medulloblastoma: Molecular Classification-Based Personal Therapeutics.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Archer TC,
Mahoney EL,
Pomeroy SL</span><br />
<span class="medgenPMjournal">Neurotherapeutics</span>
2017 Apr;14(2):265-273.
doi: 10.1007/s13311-017-0526-y.
<span class="bold">PMID: </span><a href="/pubmed/28386677" target="_blank">28386677</a><a href="/pmc/articles/PMC5398996" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/22742590">Medulloblastoma-biology and microenvironment: a review.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Byrd T,
Grossman RG,
Ahmed N</span><br />
<span class="medgenPMjournal">Pediatr Hematol Oncol</span>
2012 Sep;29(6):495-506.
Epub 2012 Jun 28
doi: 10.3109/08880018.2012.698372.
<span class="bold">PMID: </span><a href="/pubmed/22742590" target="_blank">22742590</a><a href="/pmc/articles/PMC4102096" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/21129995">Childhood medulloblastoma.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Massimino M,
Giangaspero F,
Garrè ML,
Gandola L,
Poggi G,
Biassoni V,
Gatta G,
Rutkowski S</span><br />
<span class="medgenPMjournal">Crit Rev Oncol Hematol</span>
2011 Jul;79(1):65-83.
Epub 2010 Dec 3
doi: 10.1016/j.critrevonc.2010.07.010.
<span class="bold">PMID: </span><a href="/pubmed/21129995" target="_blank">21129995</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Medulloblastoma%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 (1906)</a></div></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>
<div class="portlet_content ln">
<div class="nl"><a target="_blank" href="/pubmed/36826523">Quality of life in survivors of pediatric medulloblastoma: a systematic review and meta-analysis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Baqai MWS,
Tariq R,
Shah Z,
Bajwa MH,
Shamim MS</span><br />
<span class="medgenPMjournal">Childs Nerv Syst</span>
2023 May;39(5):1159-1171.
Epub 2023 Feb 24
doi: 10.1007/s00381-023-05886-4.
<span class="bold">PMID: </span><a href="/pubmed/36826523" target="_blank">36826523</a></div>
<div class="nl"><a target="_blank" href="/pubmed/33417160">Neuroimaging Biomarkers and Neurocognitive Outcomes in Pediatric Medulloblastoma Patients: a Systematic Review.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Wauters M,
Uyttebroeck A,
De Waele L,
Sleurs C,
Jacobs S</span><br />
<span class="medgenPMjournal">Cerebellum</span>
2021 Jun;20(3):462-480.
Epub 2021 Jan 8
doi: 10.1007/s12311-020-01225-4.
<span class="bold">PMID: </span><a href="/pubmed/33417160" target="_blank">33417160</a></div>
<div class="nl"><a target="_blank" href="/pubmed/32056026">Functional tracts of the cerebellum-essentials for the neurosurgeon.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Beez T,
Munoz-Bendix C,
Steiger HJ,
Hänggi D</span><br />
<span class="medgenPMjournal">Neurosurg Rev</span>
2021 Feb;44(1):273-278.
Epub 2020 Feb 13
doi: 10.1007/s10143-020-01242-1.
<span class="bold">PMID: </span><a href="/pubmed/32056026" target="_blank">32056026</a><a href="/pmc/articles/PMC7851031" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/32034059">Medulloblastoma cancer stem cells: molecular signatures and therapeutic targets.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Bahmad HF,
Poppiti RJ</span><br />
<span class="medgenPMjournal">J Clin Pathol</span>
2020 May;73(5):243-249.
Epub 2020 Feb 7
doi: 10.1136/jclinpath-2019-206246.
<span class="bold">PMID: </span><a href="/pubmed/32034059" target="_blank">32034059</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=%22Medulloblastoma%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 (46)</a></div></div>
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<div class="supplemental col three_col last">
<h2 class="offscreen_noflow">Supplemental Content</h2>
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<div class="portlet mgSection" id="ID_113">
<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>
</div>
<div class="portlet mgSection" id="ID_106">
<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=C0025149%5bDISCUI%5d&amp;filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (101)</a></li>
<li><a href="/gtr/tests?term=C0025149%5bDISCUI%5d&amp;filter=method%3A3%5F23" target="_blank">FISH-interphase (1)</a></li>
<li><a href="/gtr/tests?term=C0025149%5bDISCUI%5d&amp;filter=method%3A3%5F31" target="_blank">Fluorescence in situ hybridization (FISH) (1)</a></li>
<li><a href="/gtr/tests?term=C0025149%5bDISCUI%5d&amp;filter=method%3A2%5F15" target="_blank">Methylation analysis (3)</a></li>
<li><a href="/gtr/tests?term=C0025149%5bDISCUI%5d&amp;filter=method%3A2%5F18" target="_blank">Mutation scanning of select exons (3)</a></li>
<li><a href="/gtr/tests?term=C0025149%5bDISCUI%5d&amp;filter=method%3A2%5F30" target="_blank">RNA analysis (3)</a></li>
<li><a href="/gtr/tests?term=C0025149%5bDISCUI%5d&amp;filter=method%3A2%5F9" target="_blank">Sequence analysis of select exons (10)</a></li>
<li><a href="/gtr/tests?term=C0025149%5bDISCUI%5d&amp;filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (105)</a></li>
<li><a href="/gtr/tests?term=C0025149%5bDISCUI%5d&amp;filter=method%3A2%5F19" target="_blank">Targeted variant analysis (16)</a></li>
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C0025149%5bDISCUI%5d" target="_blank">See all (137)</a></total></li>
</ul></div>
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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="https://www.omim.org/search?index=entry&amp;start=1&amp;limit=10&amp;sort=score%20desc&amp;field=number&amp;search=155255" target="_blank">OMIM</a></li><li><a href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=616" target="_blank">Orphanet</a></li><li><a href="https://clinicaltrials.gov/search?cond=Medulloblastoma" target="_blank">ClinicalTrials.gov</a></li></ul></div>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Practice_guidelines">Practice guidelines</h1><a sid="121" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22medulloblastoma%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(%22Medulloblastoma%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.nccn.org/professionals/physician_gls/pdf/cns.pdf">NCCN, 2023</a><div>NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®) Central Nervous System Cancers, 2023</div></li></ul></div>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Molecular_resources">Molecular resources</h1><a sid="115" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln"><ul><li><a href="http://www.omim.org/search?index=entry&amp;start=1&amp;limit=10&amp;sort=score%20desc&amp;field=number&amp;search=116806%20600185%20603673%20603722%20607035%20612250" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=675[geneid]" target="_blank">View BRCA2 variations in ClinVar</a></li><li><a href="/clinvar/?term=1499[geneid]" target="_blank">View CTNNB1 variations in ClinVar</a></li><li><a href="/clinvar/?term=8518[geneid]" target="_blank">View ELP1 variations in ClinVar</a></li><li><a href="/clinvar/?term=8643[geneid]" target="_blank">View PTCH2 variations in ClinVar</a></li><li><a href="/clinvar/?term=23432[geneid]" target="_blank">View GPR161 variations in ClinVar</a></li><li><a href="/clinvar/?term=51684[geneid]" target="_blank">View SUFU variations in ClinVar</a></li><li><a href="/nuccore/209954814,256574794,262072976,262359920,296923765" target="_blank">RefSeqGene</a></li><li><a href="https://catalog.coriell.org/Search?q=155255" target="_blank">Coriell Institute for Medical Research</a></li></ul></div>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Consumer_resources">Consumer resources</h1><a sid="116" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln"><ul><li><a href="http://www.diseaseinfosearch.org/Medulloblastoma/4552" target="_blank">Genetic Alliance</a></li><li><a href="https://www.malacards.org/card/medulloblastoma" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&amp;query=Medulloblastoma" target="_blank">MedlinePlus</a></li><li><a href="https://rarediseases.info.nih.gov/diseases/7005/disease" target="_blank">NCATS Office of Rare Diseases Research (GARD)</a></li></ul></div>
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<h3>Reviews</h3>
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<a href="/pubmed/clinical?term=Medulloblastoma" ref="ncbi_uid=&amp;discoId=gtr_reviews&amp;linkpos=1&amp;linkpostotal=2" target="_blank">PubMed Clinical Queries</a>
</li>
<li>
<a href="/pubmed?term=Medulloblastoma%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&amp;discoId=gtr_reviews&amp;linkpos=2&amp;linkpostotal=2" target="_blank">Reviews in PubMed</a>
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<!-- MedGen supplemental column ends here -->
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<h3>Related information</h3>
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<a class="brieflinkpopperctrl" href="/clinvar?LinkName=medgen_clinvar&amp;from_uid=7517" ref="log$=recordlinks">ClinVar</a>
<div class="brieflinkpop offscreen_noflow">Related medical variations</div>
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<a class="brieflinkpopperctrl" href="/gene?LinkName=medgen_gene_diseases&amp;from_uid=7517" ref="log$=recordlinks">Gene</a>
<div class="brieflinkpop offscreen_noflow">Related information in NCBI Gene</div>
</li>
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<a class="brieflinkpopperctrl" href="/gtr/tests?term=C0025149[DISCUI]" ref="log$=recordlinks">GTR</a>
<div class="brieflinkpop offscreen_noflow">Related information in GTR</div>
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