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<meta name="keywords" content="C2985524, disease or syndrome, familial posterior fossa brain tumor syndrome of infancy, familial posterior fossa brain tumour syndrome of infancy, familial rhabdoid tumor, hereditary rhabdoid tumor, hereditary rhabdoid tumour, rhabdoid predisposition syndrome, rhabdoid tumor predisposition syndrome, rhabdoid tumour predisposition syndrome, rtps, 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="High risk of developing malignant rhabdoid tumours that are highly aggressive and rare in the general population. The tumours usually occur in the first year of life, however for those with this syndrome they occur at an average age of 4 to 7 months or even before birth. The tumours spread more quickly than those in children without this predisposition, and affected individuals often do not survive past childhood. More than half of the tumours develop in the cerebellum, but can also occur outside the central nervous system. Caused by mutations in the SMARCB1 gene. These cases are sometimes known as RTPS1. A small number of cases (called RTPS2) are caused by mutations in the SMARCA4 gene. The majority of cases are caused by SMARCB1 gene mutations which may occur in people with no history of the disorder in their family." /><meta name="robots" content="index,nofollow,noarchive" />
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<title>Rhabdoid tumor predisposition syndrome (Concept Id: C2985524)
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<!--
UID=457750
ConceptID=C2985524
-->
<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Rhabdoid tumor predisposition syndrome</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>457750</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."><span class="highlight" style="background-color:">C2985524</span></a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
<td>Familial rhabdoid tumor</td></tr>
<tr><td><span class="bold">SNOMED CT: </span></td>
<td>Rhabdoid tumor predisposition syndrome (772130002); Familial rhabdoid tumor (772130002)</td></tr>
<tr><td>Modes of inheritance:</td>
<td>
<div class="divPopper rprt" id="moi_141047"><div><strong>Autosomal dominant inheritance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>141047</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.">C0443147</a></dd><dt><span class="dotprefix"></span></dt><dd>Intellectual Product</dd></dl></div></div></div>
<div class="spaceAbove">Source: Orphanet</div>
<div class="spaceAbove">A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.</div></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#moi_141047" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal dominant inheritance</a><span> (Orphanet)</span></div></td></tr>
<tr><td colspan="2" class="small"> </td></tr><tr><td><a class="help" data-jig="ncbipopper" href="#target-gene-related">Related genes:<img src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a><div id="target-gene-related" class="display-none">
Gene(s) associated with related conditions. For conditions<br />
in a hierarchy, the parent condition will list the genes<br />
associated with the children conditions.</div></td>
<td><a target="_blank" href="/gene/6598">SMARCB1</a>, <a target="_blank" href="/gene/6597">SMARCA4</a></td></tr><tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
<td><a href="https://monarchinitiative.org/disease/MONDO:0016473" target="_blank">MONDO:0016473</a></td></tr>
<tr><td>OMIM<span class="superscript">®</span> Phenotypic series:</td>
<td><a href="https://omim.org/phenotypicSeries/PS609322" target="_blank">PS609322</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=231108">ORPHA231108</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">High risk of developing malignant rhabdoid tumours that are highly aggressive and rare in the general population. The tumours usually occur in the first year of life, however for those with this syndrome they occur at an average age of 4 to 7 months or even before birth. The tumours spread more quickly than those in children without this predisposition, and affected individuals often do not survive past childhood. More than half of the tumours develop in the cerebellum, but can also occur outside the central nervous system. Caused by mutations in the SMARCB1 gene. These cases are sometimes known as RTPS1. A small number of cases (called RTPS2) are caused by mutations in the SMARCA4 gene. The majority of cases are caused by SMARCB1 gene mutations which may occur in people with no history of the disorder in their family. [from <a title="US Edition of SNOMED CT" href="http://www.nlm.nih.gov/research/umls/Snomed/us_edition.html" class="defSource" target="_blank">SNOMEDCT_US</a>]</div>
</div>
<div class="portlet mgSection" id="ID_118">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></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=C0206743[DISCUI]&amp;test_type=Clinical" ref="ncbi_uid=64646">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=64646" target="_blank" href="/omim/609322">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/64646" ref="tree=GTR&amp;ncbi_uid=64646&amp;link_uid=64646" title="View MedGen record for 'Rhabdoid tumor'">Rhabdoid tumor</a></span><ul><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C2985524[DISCUI]&amp;test_type=Clinical&amp;redirect=true" ref="ncbi_uid=457750">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=457750" ref="ncbi_uid=457750">V</a></span></span><span class="TLline">Rhabdoid tumor predisposition syndrome</span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1836327[DISCUI]&amp;test_type=Clinical" ref="ncbi_uid=322892">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=322892" target="_blank" href="/omim/601607">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=322892" ref="ncbi_uid=322892">V</a></span></span><span class="TLline"><a href="/medgen/322892" ref="tree=GTR&amp;ncbi_uid=322892&amp;link_uid=322892" title="View MedGen record for 'Rhabdoid tumor predisposition syndrome 1'">Rhabdoid tumor predisposition syndrome 1</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=C2750074[DISCUI]&amp;test_type=Clinical" ref="ncbi_uid=413749">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=413749" target="_blank" href="/omim/603254">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=413749" ref="ncbi_uid=413749">V</a></span></span><span class="TLline"><a href="/medgen/413749" ref="tree=GTR&amp;ncbi_uid=413749&amp;link_uid=413749" title="View MedGen record for 'Rhabdoid tumor predisposition syndrome 2'">Rhabdoid tumor predisposition syndrome 2</a></span></li></ul></li></ul></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/5527" ref="tree=MeSH" title="MedGen record for Hereditary disease">Hereditary disease</a></span><ul><li><span class="TLline"><a href="/medgen/14326" ref="tree=MeSH" title="MedGen record for Hereditary cancer-predisposing syndrome">Hereditary cancer-predisposing syndrome</a></span><ul><li><span class="matched_ds">Rhabdoid tumor predisposition syndrome</span><ul><li><span class="TLline"><a href="/medgen/322892" ref="tree=MeSH" title="MedGen record for Rhabdoid tumor predisposition syndrome 1">Rhabdoid tumor predisposition syndrome 1</a></span></li><li><span class="TLline"><a href="/medgen/413749" ref="tree=MeSH" title="MedGen record for Rhabdoid tumor predisposition syndrome 2">Rhabdoid tumor predisposition syndrome 2</a></span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></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/33532948">Current recommendations for clinical surveillance and genetic testing in rhabdoid tumor predisposition: a report from the SIOPE Host Genome Working Group.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Frühwald MC,
Nemes K,
Boztug H,
Cornips MCA,
Evans DG,
Farah R,
Glentis S,
Jorgensen M,
Katsibardi K,
Hirsch S,
Jahnukainen K,
Kventsel I,
Kerl K,
Kratz CP,
Pajtler KW,
Kordes U,
Ridola V,
Stutz E,
Bourdeaut F</span><br />
<span class="medgenPMjournal">Fam Cancer</span>
2021 Oct;20(4):305-316.
Epub 2021 Feb 3
doi: 10.1007/s10689-021-00229-1.
<span class="bold">PMID: </span><a href="/pubmed/33532948" target="_blank">33532948</a><a href="/pmc/articles/PMC8484234" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/26168945">Current Management of Fetal and Neonatal Renal Tumors.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Berger M,
von Schweinitz D</span><br />
<span class="medgenPMjournal">Curr Pediatr Rev</span>
2015;11(3):188-94.
doi: 10.2174/1573396311666150714105403.
<span class="bold">PMID: </span><a href="/pubmed/26168945" target="_blank">26168945</a></div>
<div class="nl"><a target="_blank" href="/pubmed/26168942">Current Management of Neonatal Soft-tissue Sarcomas and Benign Tumors with Local Aggressiveness.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Fernandez-Pineda I,
Neel MD,
Rao BN</span><br />
<span class="medgenPMjournal">Curr Pediatr Rev</span>
2015;11(3):216-25.
doi: 10.2174/1573396311666150714110840.
<span class="bold">PMID: </span><a href="/pubmed/26168942" target="_blank">26168942</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(rhabdoid%20tumor%20predisposition%20syndrome)%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 (4)</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/38573059">Update on Cancer Predisposition Syndromes and Surveillance Guidelines for Childhood Brain Tumors.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Hansford JR,
Das A,
McGee RB,
Nakano Y,
Brzezinski J,
Scollon SR,
Rednam SP,
Schienda J,
Michaeli O,
Kim SY,
Greer MC,
Weksberg R,
Stewart DR,
Foulkes WD,
Tabori U,
Pajtler KW,
Pfister SM,
Brodeur GM,
Kamihara J</span><br />
<span class="medgenPMjournal">Clin Cancer Res</span>
2024 Jun 3;30(11):2342-2350.
doi: 10.1158/1078-0432.CCR-23-4033.
<span class="bold">PMID: </span><a href="/pubmed/38573059" target="_blank">38573059</a><a href="/pmc/articles/PMC11147702" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/35163487">Rare Hereditary Gynecological Cancer Syndromes.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Watanabe T,
Soeda S,
Endo Y,
Okabe C,
Sato T,
Kamo N,
Ueda M,
Kojima M,
Furukawa S,
Nishigori H,
Takahashi T,
Fujimori K</span><br />
<span class="medgenPMjournal">Int J Mol Sci</span>
2022 Jan 29;23(3)
doi: 10.3390/ijms23031563.
<span class="bold">PMID: </span><a href="/pubmed/35163487" target="_blank">35163487</a><a href="/pmc/articles/PMC8835983" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/31414239">Germline Genetics and Childhood Cancer: Emerging Cancer Predisposition Syndromes and Psychosocial Impacts.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Mitchell SG,
Pencheva B,
Porter CC</span><br />
<span class="medgenPMjournal">Curr Oncol Rep</span>
2019 Aug 15;21(10):85.
doi: 10.1007/s11912-019-0836-9.
<span class="bold">PMID: </span><a href="/pubmed/31414239" target="_blank">31414239</a></div>
<div class="nl"><a target="_blank" href="/pubmed/28620006">Cancer Surveillance in Gorlin Syndrome and Rhabdoid Tumor Predisposition Syndrome.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Foulkes WD,
Kamihara J,
Evans DGR,
Brugières L,
Bourdeaut F,
Molenaar JJ,
Walsh MF,
Brodeur GM,
Diller L</span><br />
<span class="medgenPMjournal">Clin Cancer Res</span>
2017 Jun 15;23(12):e62-e67.
doi: 10.1158/1078-0432.CCR-17-0595.
<span class="bold">PMID: </span><a href="/pubmed/28620006" target="_blank">28620006</a><a href="/pmc/articles/PMC7309678" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/25494491">Rhabdoid tumor predisposition syndrome.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Sredni ST,
Tomita T</span><br />
<span class="medgenPMjournal">Pediatr Dev Pathol</span>
2015 Jan-Feb;18(1):49-58.
Epub 2014 Dec 10
doi: 10.2350/14-07-1531-MISC.1.
<span class="bold">PMID: </span><a href="/pubmed/25494491" target="_blank">25494491</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Rhabdoid%20tumor%20predisposition%20syndrome%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 (15)</a></div><h3 class="subhead">Diagnosis</h3>
<div class="nl"><a target="_blank" href="/pubmed/38573059">Update on Cancer Predisposition Syndromes and Surveillance Guidelines for Childhood Brain Tumors.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Hansford JR,
Das A,
McGee RB,
Nakano Y,
Brzezinski J,
Scollon SR,
Rednam SP,
Schienda J,
Michaeli O,
Kim SY,
Greer MC,
Weksberg R,
Stewart DR,
Foulkes WD,
Tabori U,
Pajtler KW,
Pfister SM,
Brodeur GM,
Kamihara J</span><br />
<span class="medgenPMjournal">Clin Cancer Res</span>
2024 Jun 3;30(11):2342-2350.
doi: 10.1158/1078-0432.CCR-23-4033.
<span class="bold">PMID: </span><a href="/pubmed/38573059" target="_blank">38573059</a><a href="/pmc/articles/PMC11147702" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/35163487">Rare Hereditary Gynecological Cancer Syndromes.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Watanabe T,
Soeda S,
Endo Y,
Okabe C,
Sato T,
Kamo N,
Ueda M,
Kojima M,
Furukawa S,
Nishigori H,
Takahashi T,
Fujimori K</span><br />
<span class="medgenPMjournal">Int J Mol Sci</span>
2022 Jan 29;23(3)
doi: 10.3390/ijms23031563.
<span class="bold">PMID: </span><a href="/pubmed/35163487" target="_blank">35163487</a><a href="/pmc/articles/PMC8835983" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/28620006">Cancer Surveillance in Gorlin Syndrome and Rhabdoid Tumor Predisposition Syndrome.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Foulkes WD,
Kamihara J,
Evans DGR,
Brugières L,
Bourdeaut F,
Molenaar JJ,
Walsh MF,
Brodeur GM,
Diller L</span><br />
<span class="medgenPMjournal">Clin Cancer Res</span>
2017 Jun 15;23(12):e62-e67.
doi: 10.1158/1078-0432.CCR-17-0595.
<span class="bold">PMID: </span><a href="/pubmed/28620006" target="_blank">28620006</a><a href="/pmc/articles/PMC7309678" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/26168945">Current Management of Fetal and Neonatal Renal Tumors.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Berger M,
von Schweinitz D</span><br />
<span class="medgenPMjournal">Curr Pediatr Rev</span>
2015;11(3):188-94.
doi: 10.2174/1573396311666150714105403.
<span class="bold">PMID: </span><a href="/pubmed/26168945" target="_blank">26168945</a></div>
<div class="nl"><a target="_blank" href="/pubmed/25494491">Rhabdoid tumor predisposition syndrome.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Sredni ST,
Tomita T</span><br />
<span class="medgenPMjournal">Pediatr Dev Pathol</span>
2015 Jan-Feb;18(1):49-58.
Epub 2014 Dec 10
doi: 10.2350/14-07-1531-MISC.1.
<span class="bold">PMID: </span><a href="/pubmed/25494491" target="_blank">25494491</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Rhabdoid%20tumor%20predisposition%20syndrome%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 (29)</a></div><h3 class="subhead">Therapy</h3>
<div class="nl"><a target="_blank" href="/pubmed/28432176">A Phase I Study of the CDK4/6 Inhibitor Ribociclib (LEE011) in Pediatric Patients with Malignant Rhabdoid Tumors, Neuroblastoma, and Other Solid Tumors.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Geoerger B,
Bourdeaut F,
DuBois SG,
Fischer M,
Geller JI,
Gottardo NG,
Marabelle A,
Pearson ADJ,
Modak S,
Cash T,
Robinson GW,
Motta M,
Matano A,
Bhansali SG,
Dobson JR,
Parasuraman S,
Chi SN</span><br />
<span class="medgenPMjournal">Clin Cancer Res</span>
2017 May 15;23(10):2433-2441.
Epub 2017 Apr 21
doi: 10.1158/1078-0432.CCR-16-2898.
<span class="bold">PMID: </span><a href="/pubmed/28432176" target="_blank">28432176</a></div>
<div class="nl"><a target="_blank" href="/pubmed/25262118">Synchronous congenital malignant rhabdoid tumor of the orbit and atypical teratoid/rhabdoid tumor--feasibility and efficacy of multimodal therapy in a long-term survivor.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Seeringer A,
Reinhard H,
Hasselblatt M,
Schneppenheim R,
Siebert R,
Bartelheim K,
Leuschner I,
Frühwald MC</span><br />
<span class="medgenPMjournal">Cancer Genet</span>
2014 Sep;207(9):429-33.
Epub 2014 Jul 3
doi: 10.1016/j.cancergen.2014.06.028.
<span class="bold">PMID: </span><a href="/pubmed/25262118" target="_blank">25262118</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Rhabdoid%20tumor%20predisposition%20syndrome%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 (2)</a></div><h3 class="subhead">Prognosis</h3>
<div class="nl"><a target="_blank" href="/pubmed/36056180">Nervous system (NS) Tumors in Cancer Predisposition Syndromes.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Patil P,
Pencheva BB,
Patil VM,
Fangusaro J</span><br />
<span class="medgenPMjournal">Neurotherapeutics</span>
2022 Oct;19(6):1752-1771.
Epub 2022 Sep 2
doi: 10.1007/s13311-022-01277-w.
<span class="bold">PMID: </span><a href="/pubmed/36056180" target="_blank">36056180</a><a href="/pmc/articles/PMC9723057" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/34147303">Recent updates in thoracic SMARCA4-deficient undifferentiated tumor.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Nambirajan A,
Jain D</span><br />
<span class="medgenPMjournal">Semin Diagn Pathol</span>
2021 Sep;38(5):83-89.
Epub 2021 Jun 4
doi: 10.1053/j.semdp.2021.06.001.
<span class="bold">PMID: </span><a href="/pubmed/34147303" target="_blank">34147303</a></div>
<div class="nl"><a target="_blank" href="/pubmed/29397238">Hereditary SWI/SNF complex deficiency syndromes.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Agaimy A,
Foulkes WD</span><br />
<span class="medgenPMjournal">Semin Diagn Pathol</span>
2018 May;35(3):193-198.
Epub 2018 Feb 1
doi: 10.1053/j.semdp.2018.01.002.
<span class="bold">PMID: </span><a href="/pubmed/29397238" target="_blank">29397238</a></div>
<div class="nl"><a target="_blank" href="/pubmed/29280680">SMARCB1-deficient Tumors of Childhood: A Practical Guide.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Pawel BR</span><br />
<span class="medgenPMjournal">Pediatr Dev Pathol</span>
2018 Jan-Feb;21(1):6-28.
Epub 2017 Dec 27
doi: 10.1177/1093526617749671.
<span class="bold">PMID: </span><a href="/pubmed/29280680" target="_blank">29280680</a></div>
<div class="nl"><a target="_blank" href="/pubmed/26168945">Current Management of Fetal and Neonatal Renal Tumors.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Berger M,
von Schweinitz D</span><br />
<span class="medgenPMjournal">Curr Pediatr Rev</span>
2015;11(3):188-94.
doi: 10.2174/1573396311666150714105403.
<span class="bold">PMID: </span><a href="/pubmed/26168945" target="_blank">26168945</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Rhabdoid%20tumor%20predisposition%20syndrome%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 (12)</a></div><h3 class="subhead">Clinical prediction guides</h3>
<div class="nl"><a target="_blank" href="/pubmed/36056180">Nervous system (NS) Tumors in Cancer Predisposition Syndromes.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Patil P,
Pencheva BB,
Patil VM,
Fangusaro J</span><br />
<span class="medgenPMjournal">Neurotherapeutics</span>
2022 Oct;19(6):1752-1771.
Epub 2022 Sep 2
doi: 10.1007/s13311-022-01277-w.
<span class="bold">PMID: </span><a href="/pubmed/36056180" target="_blank">36056180</a><a href="/pmc/articles/PMC9723057" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/34147303">Recent updates in thoracic SMARCA4-deficient undifferentiated tumor.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Nambirajan A,
Jain D</span><br />
<span class="medgenPMjournal">Semin Diagn Pathol</span>
2021 Sep;38(5):83-89.
Epub 2021 Jun 4
doi: 10.1053/j.semdp.2021.06.001.
<span class="bold">PMID: </span><a href="/pubmed/34147303" target="_blank">34147303</a></div>
<div class="nl"><a target="_blank" href="/pubmed/33378586">Rhabdoid tumor predisposition syndrome with renal tumor 10 years after brain tumor.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Fukushima H,
Yamasaki K,
Sakaida M,
Tsujio N,
Okuno T,
Ishii N,
Okada K,
Fujisaki H,
Matsusaka Y,
Sakamoto H,
Yoneda A,
Hara J,
Inoue T</span><br />
<span class="medgenPMjournal">Pathol Int</span>
2021 Feb;71(2):155-160.
Epub 2020 Dec 30
doi: 10.1111/pin.13056.
<span class="bold">PMID: </span><a href="/pubmed/33378586" target="_blank">33378586</a></div>
<div class="nl"><a target="_blank" href="/pubmed/29397238">Hereditary SWI/SNF complex deficiency syndromes.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Agaimy A,
Foulkes WD</span><br />
<span class="medgenPMjournal">Semin Diagn Pathol</span>
2018 May;35(3):193-198.
Epub 2018 Feb 1
doi: 10.1053/j.semdp.2018.01.002.
<span class="bold">PMID: </span><a href="/pubmed/29397238" target="_blank">29397238</a></div>
<div class="nl"><a target="_blank" href="/pubmed/25494491">Rhabdoid tumor predisposition syndrome.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Sredni ST,
Tomita T</span><br />
<span class="medgenPMjournal">Pediatr Dev Pathol</span>
2015 Jan-Feb;18(1):49-58.
Epub 2014 Dec 10
doi: 10.2350/14-07-1531-MISC.1.
<span class="bold">PMID: </span><a href="/pubmed/25494491" target="_blank">25494491</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Rhabdoid%20tumor%20predisposition%20syndrome%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 (9)</a></div></div>
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C2985524%5bDISCUI%5d&amp;filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (1)</a></li>
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<div class="portlet_content ln"><ul><li><a href="https://www.omim.org/phenotypicSeries/PS609322" target="_blank">OMIM</a></li><li><a href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=231108" target="_blank">Orphanet</a></li><li><a href="https://clinicaltrials.gov/search?cond=Rhabdoid%20tumor%20predisposition%20syndrome" target="_blank">ClinicalTrials.gov</a></li></ul></div>
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