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<meta name="keywords" content="C1836327, at/rt, brain tumor, posterior fossa, of infancy, familial, disease or syndrome, familial posterior fossa brain tumor of infancy, familial rhabdoid tumor caused by mutation in smarcb1, familial rhabdoid tumour caused by mutation in smarcb1, malignant rhabdoid tumor, somatic, rhabdoid tumor predisposition syndrome 1, rhabdoid tumor predisposition syndrome type 1, rhabdoid tumors, somatic, rhabdoid tumour predisposition syndrome type 1, rtps1, smarcb1, smarcb1 familial rhabdoid tumor, smarcb1 familial rhabdoid tumour, teratoid tumor, atypical, autosomal dominant, autosomal recessive, birth defects, chromosomal disease, chromosome, clinical features, clinical findings, clinical genetics, clinical recommendations, clinvar, congenital chromosomal disease, consumer genetic resources, cytogenetic location, disease characteristics, disease definitions, disease descriptions, disease ontology, disease synonyms, disease vocabulary, dysmorphology, entrez, familial disease, gene, gene-disease relationship, genereviews, genetic disease, genetic disorder, genetic terminology, genetic testing registry, genetics home reference, genomic disease, gtr, hereditary disease, heritable disease, hpo, human phenotype ontology, inherited disease, management guidelines, maternal inheritance, medgen, medical genetics, medical subject headings, mesh, mitochondrial inheritance, mode of inheritance, national center for biotechnology information, national institutes of health, national library of medicine, ncbi, nih, nlm, omim, ordo, orphanet, paternal inheritance, phenome, position statements, professional practice guidelines, rare disease, reference sequence, refseq, snomed ct, syndrome, undiagnosed diseases, x-linked recessive" /><meta name="description" content="The 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). 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). Genetic Heterogeneity of Rhabdoid Tumor Predisposition Syndrome See also RTPS2 (613325), caused by germline mutation in the SMARCA4 gene (603254) on chromosome 19p13." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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||
UID=322892
|
||
ConceptID=C1836327
|
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Rhabdoid tumor predisposition syndrome 1<span class="h1sub">(RTPS1)</span></div></h1><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) Click for more information."><span class="highlight" style="background-color:">C1836327</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>Familial Posterior Fossa Brain Tumor of Infancy; RTPS1</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">Gene (location):<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="SMARCB1 - ID: 6598 - NCBI Gene" href="/gene/6598" class="medgenPMinfo">SMARCB1</a> (22q11.23)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0012252" target="_blank">MONDO:0012252</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/609322" target="_blank">609322</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>
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<div class="portlet mgSection" id="ID_100">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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||
<div class="portlet_content ln">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). 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). Genetic Heterogeneity of Rhabdoid Tumor Predisposition Syndrome See also RTPS2 (613325), caused by germline mutation in the SMARCA4 gene (603254) on chromosome 19p13. [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_117">
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||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Additional_description">Additional description</h1><a sid="117" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><div class="mgSection"><strong>From MedlinePlus Genetics</strong><br />Rhabdoid tumor predisposition syndrome (RTPS) is characterized by a high risk of developing cancerous (malignant) growths called rhabdoid tumors. These highly aggressive tumors are called rhabdoid because their cells resemble rhabdomyoblasts, which are cells that are normally found in embryos before birth and develop into muscles used for movement (skeletal muscles).<br /><br />Rhabdoid tumors are rare in the general population. They usually occur in the first year of life, and are much less likely to appear after age 4. In people with RTPS, the tumors occur at an average age of 4 to 7 months, and can even occur before birth. Affected individuals may have multifocal synchronous tumors, which means that multiple tumors that develop independently (primary tumors) occur at the same time. The rhabdoid tumors that occur in RTPS usually grow and spread more quickly than those in children without this predisposition, and affected individuals often do not survive past childhood.<br /><br />More than half of all malignant rhabdoid tumors (MRTs) develop in the cerebellum, which is the part of the brain that coordinates movement. Rhabdoid tumors in the brain and spinal cord (central nervous system) are called atypical teratoid/rhabdoid tumors (AT/RTs).<br /><br />Rhabdoid tumors also occur outside the central nervous system. These tumors include rhabdoid tumors of the kidneys (RTKs) and tumors that develop in other organs and tissues of the body (called extrarenal malignant rhabdoid tumors or eMRTs). The type of rhabdoid tumor can vary among individuals with RTPS, even within the same family.<br /><br />Tumors other than rhabdoid tumors can also occur in people with RTPS. Some affected children develop noncancerous (benign) tumors called schwannomas, which grow on nerve cells. Women with RTPS are at increased risk of developing a rare type of ovarian cancer called small cell cancer of the ovary hypercalcemic type (SCCOHT). <a target="_blank" href="https://medlineplus.gov/genetics/condition/rhabdoid-tumor-predisposition-syndrome">https://medlineplus.gov/genetics/condition/rhabdoid-tumor-predisposition-syndrome</a></div></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) 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). 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="divPopper rprt" id="clin_96557"><div><strong>Choroid plexus carcinoma</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>96557</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0431109</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Neoplastic Process</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Intraventricular papillary neoplasm derived from choroid plexus epithelium. Plexus tumors are most common in the lateral and fourth ventricles; while 80% of lateral ventricle tumors present in children, fourth ventricle tumors are evenly distributed in all age groups. Clinically, choroid plexus tumors tend to cause hydrocephalus and increased intracranial pressure. Histologically, choroid plexus papillomas correspond to WHO grade I, choroid plexus carcinomas to WHO grade III.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/96557">Feature record</a> | <a href="/medgen?term=%22Choroid%20plexus%20carcinoma%22%5BClinical%20Features%5D%20OR%2096557%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_96557" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Choroid plexus carcinoma</a></span></li><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></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]&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&ncbi_uid=64646&link_uid=64646" title="View MedGen record for 'Rhabdoid tumor'">Rhabdoid tumor</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=C2985524[DISCUI]&test_type=Clinical&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&from_uid=457750" ref="ncbi_uid=457750">V</a></span></span><span class="TLline"><a href="/medgen/457750" ref="tree=GTR&ncbi_uid=457750&link_uid=457750" title="View MedGen record for 'Rhabdoid tumor predisposition syndrome'">Rhabdoid tumor predisposition syndrome</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=C1836327[DISCUI]&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&from_uid=322892" ref="ncbi_uid=322892">V</a></span></span><span class="TLline">Rhabdoid tumor predisposition syndrome 1</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]&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&from_uid=413749" ref="ncbi_uid=413749">V</a></span></span><span class="TLline"><a href="/medgen/413749" ref="tree=GTR&ncbi_uid=413749&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="TLline"><a href="/medgen/457750" ref="tree=MeSH" title="MedGen record for Rhabdoid tumor predisposition syndrome">Rhabdoid tumor predisposition syndrome</a></span><ul><li><span class="matched_ds">Rhabdoid tumor predisposition syndrome 1</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/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=(rhabdoid%20tumor%20predisposition%20syndrome%201)%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 (1)</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/39117932">Late-onset tumors in rhabdoid tumor predisposition syndrome type-1 (RTPS1) and implications for surveillance.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nakano Y,
|
||
Acker M,
|
||
Druker H,
|
||
van Engelen K,
|
||
Meyn MS,
|
||
Wasserman JD,
|
||
Venier RE,
|
||
Goudie C,
|
||
Stosic A,
|
||
Huang A,
|
||
Greer MC,
|
||
Malkin D,
|
||
Villani A,
|
||
Gallinger B</span><br />
|
||
<span class="medgenPMjournal">Eur J Hum Genet</span>
|
||
2024 Nov;32(11):1474-1482.
|
||
Epub 2024 Aug 8
|
||
doi: 10.1038/s41431-024-01674-z.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39117932" target="_blank">39117932</a><a href="/pmc/articles/PMC11576963" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37548271">Constitutional balanced translocations involving SMARCB1: A rare cause of rhabdoid tumor predisposition syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Blackburn PR,
|
||
McGee RB,
|
||
Mostafavi R,
|
||
Carroll AJ,
|
||
Mikhail FM,
|
||
Armstrong GT,
|
||
Furtado LV,
|
||
Chiang J,
|
||
Wheeler DA,
|
||
Carey SS,
|
||
Nichols KE,
|
||
Upadhyaya SA</span><br />
|
||
<span class="medgenPMjournal">Genes Chromosomes Cancer</span>
|
||
2024 Jan;63(1):e23195.
|
||
Epub 2023 Aug 7
|
||
doi: 10.1002/gcc.23195.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37548271" target="_blank">37548271</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33353730">Hereditary ovarian tumour syndromes: current update on genetics and imaging.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Shanbhogue KP,
|
||
Prasad AS,
|
||
Ucisik-Keser FE,
|
||
Katabathina VS,
|
||
Morani AC</span><br />
|
||
<span class="medgenPMjournal">Clin Radiol</span>
|
||
2021 Apr;76(4):313.e15-313.e26.
|
||
Epub 2021 Jan 19
|
||
doi: 10.1016/j.crad.2020.11.116.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33353730" target="_blank">33353730</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31047727">Tumor mutation burden, DNA mismatch repair status and checkpoint immunotherapy markers in primary and relapsed malignant rhabdoid tumors.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Abro B,
|
||
Kaushal M,
|
||
Chen L,
|
||
Wu R,
|
||
Dehner LP,
|
||
Pfeifer JD,
|
||
He M</span><br />
|
||
<span class="medgenPMjournal">Pathol Res Pract</span>
|
||
2019 Jun;215(6):152395.
|
||
Epub 2019 Apr 18
|
||
doi: 10.1016/j.prp.2019.03.023.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31047727" target="_blank">31047727</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><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Rhabdoid%20tumor%20predisposition%20syndrome%201%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 (7)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39117932">Late-onset tumors in rhabdoid tumor predisposition syndrome type-1 (RTPS1) and implications for surveillance.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nakano Y,
|
||
Acker M,
|
||
Druker H,
|
||
van Engelen K,
|
||
Meyn MS,
|
||
Wasserman JD,
|
||
Venier RE,
|
||
Goudie C,
|
||
Stosic A,
|
||
Huang A,
|
||
Greer MC,
|
||
Malkin D,
|
||
Villani A,
|
||
Gallinger B</span><br />
|
||
<span class="medgenPMjournal">Eur J Hum Genet</span>
|
||
2024 Nov;32(11):1474-1482.
|
||
Epub 2024 Aug 8
|
||
doi: 10.1038/s41431-024-01674-z.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39117932" target="_blank">39117932</a><a href="/pmc/articles/PMC11576963" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33353730">Hereditary ovarian tumour syndromes: current update on genetics and imaging.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Shanbhogue KP,
|
||
Prasad AS,
|
||
Ucisik-Keser FE,
|
||
Katabathina VS,
|
||
Morani AC</span><br />
|
||
<span class="medgenPMjournal">Clin Radiol</span>
|
||
2021 Apr;76(4):313.e15-313.e26.
|
||
Epub 2021 Jan 19
|
||
doi: 10.1016/j.crad.2020.11.116.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33353730" target="_blank">33353730</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/27745735">All things rhabdoid and SMARC: An enigmatic exploration with Dr. Louis P. Dehner.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fuller CE</span><br />
|
||
<span class="medgenPMjournal">Semin Diagn Pathol</span>
|
||
2016 Nov;33(6):427-440.
|
||
Epub 2016 Aug 31
|
||
doi: 10.1053/j.semdp.2016.08.003.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27745735" target="_blank">27745735</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%201%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 (13)</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%201%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/39117932">Late-onset tumors in rhabdoid tumor predisposition syndrome type-1 (RTPS1) and implications for surveillance.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nakano Y,
|
||
Acker M,
|
||
Druker H,
|
||
van Engelen K,
|
||
Meyn MS,
|
||
Wasserman JD,
|
||
Venier RE,
|
||
Goudie C,
|
||
Stosic A,
|
||
Huang A,
|
||
Greer MC,
|
||
Malkin D,
|
||
Villani A,
|
||
Gallinger B</span><br />
|
||
<span class="medgenPMjournal">Eur J Hum Genet</span>
|
||
2024 Nov;32(11):1474-1482.
|
||
Epub 2024 Aug 8
|
||
doi: 10.1038/s41431-024-01674-z.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39117932" target="_blank">39117932</a><a href="/pmc/articles/PMC11576963" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33353730">Hereditary ovarian tumour syndromes: current update on genetics and imaging.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Shanbhogue KP,
|
||
Prasad AS,
|
||
Ucisik-Keser FE,
|
||
Katabathina VS,
|
||
Morani AC</span><br />
|
||
<span class="medgenPMjournal">Clin Radiol</span>
|
||
2021 Apr;76(4):313.e15-313.e26.
|
||
Epub 2021 Jan 19
|
||
doi: 10.1016/j.crad.2020.11.116.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33353730" target="_blank">33353730</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%201%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 (3)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<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/31047727">Tumor mutation burden, DNA mismatch repair status and checkpoint immunotherapy markers in primary and relapsed malignant rhabdoid tumors.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Abro B,
|
||
Kaushal M,
|
||
Chen L,
|
||
Wu R,
|
||
Dehner LP,
|
||
Pfeifer JD,
|
||
He M</span><br />
|
||
<span class="medgenPMjournal">Pathol Res Pract</span>
|
||
2019 Jun;215(6):152395.
|
||
Epub 2019 Apr 18
|
||
doi: 10.1016/j.prp.2019.03.023.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31047727" target="_blank">31047727</a></div>
|
||
|
||
<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/23364536">SNF5 reexpression in malignant rhabdoid tumors regulates transcription of target genes by recruitment of SWI/SNF complexes and RNAPII to the transcription start site of their promoters.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kuwahara Y,
|
||
Wei D,
|
||
Durand J,
|
||
Weissman BE</span><br />
|
||
<span class="medgenPMjournal">Mol Cancer Res</span>
|
||
2013 Mar;11(3):251-60.
|
||
Epub 2013 Jan 30
|
||
doi: 10.1158/1541-7786.MCR-12-0390.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23364536" target="_blank">23364536</a><a href="/pmc/articles/PMC4342046" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Rhabdoid%20tumor%20predisposition%20syndrome%201%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 (4)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
<div id="messagearea_bottom">
|
||
|
||
</div>
|
||
<div class=" bottom">
|
||
|
||
</div>
|
||
|
||
</div>
|
||
</div>
|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
||
|
||
<div>
|
||
|
||
<!-- MedGen supplemental column starts here -->
|
||
<div class="rightCol mgCol">
|
||
<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=C1836327%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (38)</a></li>
|
||
<li><a href="/gtr/tests?term=C1836327%5bDISCUI%5d&filter=method%3A2%5F29" target="_blank">Detection of homozygosity (1)</a></li>
|
||
<li><a href="/gtr/tests?term=C1836327%5bDISCUI%5d&filter=method%3A2%5F13" target="_blank">Linkage analysis (1)</a></li>
|
||
<li><a href="/gtr/tests?term=C1836327%5bDISCUI%5d&filter=method%3A2%5F18" target="_blank">Mutation scanning of select exons (3)</a></li>
|
||
<li><a href="/gtr/tests?term=C1836327%5bDISCUI%5d&filter=method%3A2%5F17" target="_blank">Mutation scanning of the entire coding region (1)</a></li>
|
||
<li><a href="/gtr/tests?term=C1836327%5bDISCUI%5d&filter=method%3A2%5F30" target="_blank">RNA analysis (2)</a></li>
|
||
<li><a href="/gtr/tests?term=C1836327%5bDISCUI%5d&filter=method%3A2%5F9" target="_blank">Sequence analysis of select exons (1)</a></li>
|
||
<li><a href="/gtr/tests?term=C1836327%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (44)</a></li>
|
||
<li><a href="/gtr/tests?term=C1836327%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (5)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C1836327%5bDISCUI%5d" target="_blank">See all (52)</a></total></li>
|
||
</ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_119">
|
||
<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&start=1&limit=10&sort=score%20desc&field=number&search=609322" target="_blank">OMIM</a></li><li><a href="https://clinicaltrials.gov/search?cond=Rhabdoid%20tumor%20predisposition%20syndrome%201" target="_blank">ClinicalTrials.gov</a></li></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_121">
|
||
<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=(rhabdoid%20tumor%20predisposition%20syndrome%201)%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(%22Rhabdoid%20tumor%20predisposition%20syndrome%201%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></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_115">
|
||
<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&start=1&limit=10&sort=score%20desc&field=number&search=601607" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=6598[geneid]" target="_blank">View SMARCB1 variations in ClinVar</a></li><li><a href="/nuccore/219842253" target="_blank">RefSeqGene</a></li><li><a href="https://catalog.coriell.org/Search?q=609322" target="_blank">Coriell Institute for Medical Research</a></li></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_116">
|
||
<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/Rhabdoid+tumor+predisposition+syndrome+1/9251" target="_blank">Genetic Alliance</a></li><li><a href="https://www.malacards.org/card/rhabdoid_tumor_predisposition_syndrome_1" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Rhabdoid%20tumor%20predisposition%20syndrome%201" target="_blank">MedlinePlus</a></li><li><a href="https://medlineplus.gov/genetics/condition/rhabdoid-tumor-predisposition-syndrome" target="_blank">MedlinePlusGenetics (GHR)</a></li><li><a href="https://rarediseases.info.nih.gov/diseases/18318/disease" target="_blank">NCATS Office of Rare Diseases Research (GARD)</a></li></ul></div>
|
||
</div>
|
||
</div>
|
||
<div class="portlet brieflink">
|
||
<div class="portlet_head">
|
||
<div class="portlet_title">
|
||
<h3>Reviews</h3>
|
||
</div>
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenReviews.Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="Reviews" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenReviews.Shutter"></a>
|
||
</div>
|
||
<div class="portlet_content">
|
||
<ul>
|
||
<li>
|
||
<a href="/pubmed/clinical?term=Rhabdoid%20tumor%20predisposition%20syndrome%201" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=2" target="_blank">PubMed Clinical Queries</a>
|
||
</li>
|
||
<li>
|
||
<a href="/pubmed?term=Rhabdoid%20tumor%20predisposition%20syndrome%201%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=2&linkpostotal=2" target="_blank">Reviews in PubMed</a>
|
||
</li>
|
||
</ul>
|
||
</div>
|
||
</div>
|
||
|
||
<!-- MedGen supplemental column ends here -->
|
||
<div class="portlet brieflink">
|
||
<div class="portlet_head">
|
||
<div class="portlet_title">
|
||
<h3>Related information</h3>
|
||
</div>
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenDiscoveryDbLinks.Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="discovery_db_links" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenDiscoveryDbLinks.Shutter"></a>
|
||
</div>
|
||
<div class="portlet_content DiscoveryDbLinks">
|
||
<ul>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/clinvar?LinkName=medgen_clinvar&from_uid=322892" ref="log$=recordlinks">ClinVar</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related medical variations</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gene?LinkName=medgen_gene_diseases&from_uid=322892" ref="log$=recordlinks">Gene</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in NCBI Gene</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gtr/tests?term=C1836327[DISCUI]" ref="log$=recordlinks">GTR</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in GTR</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gtr/tests?term=C1836327[DISCUI]&test_type=Clinical" ref="log$=recordlinks">GTR(Clinical)</a>
|
||
<div class="brieflinkpop offscreen_noflow">Clinical tests in GTR</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/mesh?LinkName=medgen_mesh&from_uid=322892" ref="log$=recordlinks">MeSH</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related Medical Subject Headings</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/omim?LinkName=medgen_omim&from_uid=322892" ref="log$=recordlinks">OMIM</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related records in OMIM</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/omim?LinkName=medgen_omim_gene&from_uid=322892" ref="log$=recordlinks">OMIM(Genes)</a>
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