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<!--
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||
UID=104910
|
||
ConceptID=C0206656
|
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Embryonal rhabdomyosarcoma<span class="h1sub">(ERMS)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>104910</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.">C0206656</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Neoplastic Process</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>Botryoid rhabdomyosarcoma (type of ERMS); ERMS; Spindle cell rhabdomyosarcomas (type of ERMS)</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Embryonal rhabdomyosarcoma (404051002); Embryonal rhabdomyosarcoma (14269005)</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:0006743">HP:0006743</a></td></tr>
|
||
<tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0009993" target="_blank">MONDO:0009993</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&Expert=99757">ORPHA99757</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>
|
||
<div class="portlet_content ln">A poorly circumscribed morphologic variant of rhabdomyosarcoma. It is characterized by the presence of primitive skeletal muscle differentiation in any stage of myogenesis. [from <a title="NCI Thesaurus" href="http://ncit.nci.nih.gov" class="defSource" target="_blank">NCI</a>]</div>
|
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</div>
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|
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<div class="portlet mgSection" id="ID_118">
|
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li><li><a href="#tabORDO">Orphanet</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0206656[DISCUI]&test_type=Clinical" ref="ncbi_uid=104910">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=104910" ref="ncbi_uid=104910">V</a></span></span><span class="TLline">Embryonal rhabdomyosarcoma</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/21047" ref="tree=MeSH" title="MedGen record for Pathological Conditions, Signs and Symptoms">Pathological Conditions, Signs and Symptoms</a></span><ul><li><span class="TLline"><a href="/medgen/18325" ref="tree=MeSH" title="MedGen record for Pathological process">Pathological process</a></span><ul><li><span class="TLline"><a href="/medgen/4347" ref="tree=MeSH" title="MedGen record for Disease">Disease</a></span><ul><li><span class="TLline"><a href="/medgen/10294" ref="tree=MeSH" title="MedGen record for Neoplasm">Neoplasm</a></span><ul><li><span class="TLline"><a href="/medgen/45034" ref="tree=MeSH" title="MedGen record for Embryonal neoplasm">Embryonal neoplasm</a></span><ul><li><span class="matched_ds">Embryonal rhabdomyosarcoma</span><ul><li><span class="TLline"><a href="/medgen/882144" ref="tree=MeSH" title="MedGen record for Anaplastic Embryonal Rhabdomyosarcoma">Anaplastic Embryonal Rhabdomyosarcoma</a></span></li><li><span class="TLline"><a href="/medgen/1707365" ref="tree=MeSH" title="MedGen record for Bladder Embryonal Rhabdomyosarcoma">Bladder Embryonal Rhabdomyosarcoma</a></span></li><li><span class="TLline"><a href="/medgen/227014" ref="tree=MeSH" title="MedGen record for Botryoid-Type Embryonal Rhabdomyosarcoma">Botryoid-Type Embryonal Rhabdomyosarcoma</a></span><ul><li><span class="TLline"><a href="/medgen/231032" ref="tree=MeSH" title="MedGen record for Adult botryoid rhabdomyosarcoma">Adult botryoid rhabdomyosarcoma</a></span><ul><li><span class="TLline"><a href="/medgen/272994" ref="tree=MeSH" title="MedGen record for Adult vagina botryoid embryonal rhabdomyosarcoma">Adult vagina botryoid embryonal rhabdomyosarcoma</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/267758" ref="tree=MeSH" title="MedGen record for Botryoid-type embryonal rhabdomyosarcoma of the vagina">Botryoid-type embryonal rhabdomyosarcoma of the vagina</a></span><ul><li><span class="TLline"><a href="/medgen/232055" ref="tree=MeSH" title="MedGen record for Childhood vagina botryoid rhabdomyosarcoma">Childhood vagina botryoid rhabdomyosarcoma</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/232054" ref="tree=MeSH" title="MedGen record for Childhood botryoid rhabdomyosarcoma">Childhood botryoid rhabdomyosarcoma</a></span><ul><li><span class="TLline"><a href="/medgen/232056" ref="tree=MeSH" title="MedGen record for Vulvar childhood botryoid-type embryonal rhabdomyosarcoma">Vulvar childhood botryoid-type embryonal rhabdomyosarcoma</a></span></li></ul></li></ul></li><li><span class="TLline"><a href="/medgen/83530" ref="tree=MeSH" title="MedGen record for Childhood Embryonal Rhabdomyosarcoma">Childhood Embryonal Rhabdomyosarcoma</a></span></li><li><span class="TLline"><a href="/medgen/234244" ref="tree=MeSH" title="MedGen record for Embryonal extrahepatic bile duct rhabdomyosarcoma">Embryonal extrahepatic bile duct rhabdomyosarcoma</a></span></li><li><span class="TLline"><a href="/medgen/233267" ref="tree=MeSH" title="MedGen record for Orbit embryonal rhabdomyosarcoma">Orbit embryonal rhabdomyosarcoma</a></span></li><li><span class="TLline"><a href="/medgen/233873" ref="tree=MeSH" title="MedGen record for Prostate embryonal rhabdomyosarcoma">Prostate embryonal rhabdomyosarcoma</a></span></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&data_id=156&PatId=14330&search=Disease_Classif_Simple&new=1" class="ital bold">this link</a> to review classifications for <span class="ital">Embryonal rhabdomyosarcoma</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_18013"><div><strong>Neurofibromatosis, type 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>18013</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0027831</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Neoplastic Process</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Neurofibromatosis 1 (NF1) is a multisystem disorder characterized by multiple café au lait macules, intertriginous freckling, multiple cutaneous neurofibromas, and learning disability or behavior problems. About half of people with NF1 have plexiform neurofibromas, but most are internal and not suspected clinically. Plexiform neurofibromas can cause pain, neurologic deficits, and abnormalities of involved or adjacent structures. Less common but potentially more serious manifestations include optic nerve and other central nervous system gliomas, malignant peripheral nerve sheath tumors, scoliosis, tibial dysplasia, vasculopathy, and gastrointestinal, endocrine, or pulmonary disease.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/18013">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_340307"><div><strong>Rhabdomyosarcoma 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>340307</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.">C1849385</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Neoplastic Process</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/340307">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_338026"><div><strong>Mosaic variegated aneuploidy syndrome 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>338026</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.">C1850343</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Mosaic variegated aneuploidy (MVA) syndrome is a rare disorder in which some cells in the body have an abnormal number of chromosomes instead of the usual 46 chromosomes, a situation known as aneuploidy. Most commonly, cells have an extra chromosome, which is called trisomy, or are missing a chromosome, which is known as monosomy. In MVA syndrome, some cells are aneuploid and others have the normal number of chromosomes, which is a phenomenon known as mosaicism. Typically, at least one-quarter of cells in affected individuals have an abnormal number of chromosomes. Because the additional or missing chromosomes vary among the abnormal cells, the aneuploidy is described as variegated.\n\nThere are at least three types of MVA syndrome, each with a different genetic cause. Type 1 is the most common and displays the classic signs and symptoms described above. Type 2 appears to have slightly different signs and symptoms than type 1, although the small number of affected individuals makes it difficult to define its characteristic features. Individuals with MVA syndrome type 2 grow slowly before and after birth; however, their head size is typically normal. Some people with MVA syndrome type 2 have unusually short arms. Individuals with MVA syndrome type 2 do not seem to have an increased risk of cancer. Another form of MVA syndrome is characterized by a high risk of developing Wilms tumor. Individuals with this form may also have other signs and symptoms typical of MVA syndrome type 1.\n\nIn MVA syndrome, growth before birth is slow (intrauterine growth restriction). After birth, affected individuals continue to grow at a slow rate and are shorter than average. In addition, they typically have an unusually small head size (microcephaly). Another common feature of MVA syndrome is an increased risk of developing cancer in childhood. Cancers that occur most frequently in affected individuals include a cancer of muscle tissue called rhabdomyosarcoma, a form of kidney cancer known as Wilms tumor, and a cancer of the blood-forming tissue known as leukemia.\n\nLess commonly, people with MVA syndrome have eye abnormalities or distinctive facial features, such as a broad nasal bridge and low-set ears. Some affected individuals have brain abnormalities, the most common of which is called Dandy-Walker malformation. Intellectual disability, seizures, and other health problems can also occur in people with MVA syndrome.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/338026">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_357232"><div><strong>Rhabdomyosarcoma, embryonal, 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>357232</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.">C1867234</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/357232">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1824057"><div><strong>Mosaic variegated aneuploidy syndrome 7 with inflammation and tumor predisposition</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1824057</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.">C5774284</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Mosaic variegated aneuploidy syndrome-7 with inflammation and tumor predisposition (MVA7) is an autosomal recessive disorder characterized by increased susceptibility to benign and malignant neoplasms beginning in early childhood. Affected individuals show dysmorphic facies and may have early developmental delay. Patient cells show a high level of aneuploidy due to defects in cell division (Villarroya-Beltri et al., 2022). For a discussion of genetic heterogeneity of MVA, see MVA1 (257300).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1824057">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_338026" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Mosaic variegated aneuploidy syndrome 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1824057" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Mosaic variegated aneuploidy syndrome 7 with inflammation and tumor predisposition</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_18013" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neurofibromatosis, type 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_340307" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Rhabdomyosarcoma 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_357232" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Rhabdomyosarcoma, embryonal, 2</a></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/38546643">Germline Genetic Testing and Survival Outcomes Among Children With Rhabdomyosarcoma: A Report From the Children's Oncology Group.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Martin-Giacalone BA,
|
||
Li H,
|
||
Scheurer ME,
|
||
Casey DL,
|
||
Dugan-Perez S,
|
||
Marquez-Do DA,
|
||
Muzny D,
|
||
Gibbs RA,
|
||
Barkauskas DA,
|
||
Hall D,
|
||
Stewart DR,
|
||
Schiffman JD,
|
||
McEvoy MT,
|
||
Khan J,
|
||
Malkin D,
|
||
Linardic CM,
|
||
Crompton BD,
|
||
Shern JF,
|
||
Skapek SX,
|
||
Venkatramani R,
|
||
Hawkins DS,
|
||
Sabo A,
|
||
Plon SE,
|
||
Lupo PJ</span><br />
|
||
<span class="medgenPMjournal">JAMA Netw Open</span>
|
||
2024 Mar 4;7(3):e244170.
|
||
doi: 10.1001/jamanetworkopen.2024.4170.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38546643" target="_blank">38546643</a><a href="/pmc/articles/PMC10979319" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29967215">Targeted Therapy-based Combination Treatment in Rhabdomyosarcoma.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">van Erp AEM,
|
||
Versleijen-Jonkers YMH,
|
||
van der Graaf WTA,
|
||
Fleuren EDG</span><br />
|
||
<span class="medgenPMjournal">Mol Cancer Ther</span>
|
||
2018 Jul;17(7):1365-1380.
|
||
doi: 10.1158/1535-7163.MCT-17-1131.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29967215" target="_blank">29967215</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/4610841">Management of embryonal rhabdomyosarcoma in children.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Exelby PR</span><br />
|
||
<span class="medgenPMjournal">Surg Clin North Am</span>
|
||
1974 Aug;54(4):849-57.
|
||
doi: 10.1016/s0039-6109(16)40388-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/4610841" target="_blank">4610841</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22embryonal%20rhabdomyosarcoma%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 (32)</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/sarcoma.pdf" target="_blank">NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®), Soft Tissue Sarcoma, 2024</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/38623604">The "Other" Uterine Mesenchymal Neoplasms: Recent Developments and Emerging Entities.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bennett JA,
|
||
Pinto A</span><br />
|
||
<span class="medgenPMjournal">Adv Anat Pathol</span>
|
||
2024 Nov 1;31(6):380-396.
|
||
Epub 2024 Apr 16
|
||
doi: 10.1097/PAP.0000000000000440.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38623604" target="_blank">38623604</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35253347">Cutaneous mosaic RASopathies associated with rhabdomyosarcoma.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Davies OMT,
|
||
Bruckner AL,
|
||
McCalmont T,
|
||
Mascarenhas L,
|
||
Oza V,
|
||
Williams ML,
|
||
Wine-Lee L,
|
||
Shern JF,
|
||
Siegel DH</span><br />
|
||
<span class="medgenPMjournal">Pediatr Blood Cancer</span>
|
||
2022 May;69(5):e29639.
|
||
Epub 2022 Mar 6
|
||
doi: 10.1002/pbc.29639.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35253347" target="_blank">35253347</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35129294">An update on rhabdomyosarcoma risk stratification and the rationale for current and future Children's Oncology Group clinical trials.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Haduong JH,
|
||
Heske CM,
|
||
Allen-Rhoades W,
|
||
Xue W,
|
||
Teot LA,
|
||
Rodeberg DA,
|
||
Donaldson SS,
|
||
Weiss A,
|
||
Hawkins DS,
|
||
Venkatramani R</span><br />
|
||
<span class="medgenPMjournal">Pediatr Blood Cancer</span>
|
||
2022 Apr;69(4):e29511.
|
||
Epub 2022 Feb 7
|
||
doi: 10.1002/pbc.29511.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35129294" target="_blank">35129294</a><a href="/pmc/articles/PMC8976559" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31409088">DICER1 Syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hořínová V,
|
||
Drábová K,
|
||
Nosková H,
|
||
Bajčiová V,
|
||
Šoukalová J,
|
||
Černá L,
|
||
Hůrková V,
|
||
Slabý O,
|
||
Štěrba J</span><br />
|
||
<span class="medgenPMjournal">Klin Onkol</span>
|
||
2019 Summer;32(Supplementum2):123-127.
|
||
doi: 10.14735/amko2019S123.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31409088" target="_blank">31409088</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27241106">Gynecologic Manifestations of the DICER1 Syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Stewart CJ,
|
||
Charles A,
|
||
Foulkes WD</span><br />
|
||
<span class="medgenPMjournal">Surg Pathol Clin</span>
|
||
2016 Jun;9(2):227-41.
|
||
Epub 2016 Apr 9
|
||
doi: 10.1016/j.path.2016.01.002.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27241106" target="_blank">27241106</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Embryonal%20rhabdomyosarcoma%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 (448)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35149982">Auricular embryonal rhabdomyosarcoma.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Arredondo Montero J,
|
||
Bronte Anaut M,
|
||
Hernández-Martín S,
|
||
López-Gutiérrez JC</span><br />
|
||
<span class="medgenPMjournal">World J Pediatr</span>
|
||
2022 May;18(5):358-360.
|
||
Epub 2022 Feb 11
|
||
doi: 10.1007/s12519-022-00521-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35149982" target="_blank">35149982</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31620851">The clinical and radiologic features of paediatric rhabdomyosarcoma.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jawad N,
|
||
McHugh K</span><br />
|
||
<span class="medgenPMjournal">Pediatr Radiol</span>
|
||
2019 Oct;49(11):1516-1523.
|
||
Epub 2019 Oct 16
|
||
doi: 10.1007/s00247-019-04386-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31620851" target="_blank">31620851</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27810092">Childhood rhabdomyosarcoma.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Córdoba Rovira SM,
|
||
Inarejos Clemente EJ</span><br />
|
||
<span class="medgenPMjournal">Radiologia</span>
|
||
2016 Nov-Dec;58(6):481-490.
|
||
Epub 2016 Nov 1
|
||
doi: 10.1016/j.rx.2016.09.003.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27810092" target="_blank">27810092</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27241106">Gynecologic Manifestations of the DICER1 Syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Stewart CJ,
|
||
Charles A,
|
||
Foulkes WD</span><br />
|
||
<span class="medgenPMjournal">Surg Pathol Clin</span>
|
||
2016 Jun;9(2):227-41.
|
||
Epub 2016 Apr 9
|
||
doi: 10.1016/j.path.2016.01.002.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27241106" target="_blank">27241106</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/14259985">EMBRYONAL RHABDOMYOSARCOMA.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">EDLAND RW</span><br />
|
||
<span class="medgenPMjournal">Am J Roentgenol Radium Ther Nucl Med</span>
|
||
1965 Mar;93:671-85.
|
||
<span class="bold">PMID: </span><a href="/pubmed/14259985" target="_blank">14259985</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Embryonal%20rhabdomyosarcoma%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 (843)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39147820">Entinostat as a combinatorial therapeutic for rhabdomyosarcoma.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chauhan S,
|
||
Lian E,
|
||
Habib I,
|
||
Liu Q,
|
||
Anders NM,
|
||
Bugg MM,
|
||
Federman NC,
|
||
Reid JM,
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Selfe J,
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Izquierdo E,
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Patidar R,
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Chou HC,
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Song YK,
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Yohe ME,
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Sindiri S,
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Wei J,
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Wen X,
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Rudzinski ER,
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Barkauskas DA,
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<span class="bold">PMID: </span><a href="/pubmed/34166060" target="_blank">34166060</a><a href="/pmc/articles/PMC8425837" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/31409088">DICER1 Syndrome.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Hořínová V,
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Drábová K,
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Nosková H,
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Bajčiová V,
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Embryonal%20rhabdomyosarcoma%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 (253)</a></div></div>
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||
</div>
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||
<div class="portlet mgSection" id="ID_104">
|
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_systematic_reviews">Recent systematic reviews</h1><a sid="104" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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||
<div class="portlet_content ln">
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<div class="nl"><a target="_blank" href="/pubmed/37638828">A systematic review of the prevalence of pathogenic or likely pathogenic germline variants in individuals with FOXO1 fusion-positive rhabdomyosarcoma.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Freycon C,
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Lupo PJ,
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Witkowski L,
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Budd C,
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Foulkes WD,
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Goudie C</span><br />
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<span class="bold">PMID: </span><a href="/pubmed/37638828" target="_blank">37638828</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36371419">Surrogacy analysis of intermediate end-points for overall survival in randomized controlled trials of rhabdomyosarcoma.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kubota Y,
|
||
Tanaka K,
|
||
Kawano M,
|
||
Iwasaki T,
|
||
Itonaga I,
|
||
Tsumura H</span><br />
|
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<span class="medgenPMjournal">Sci Rep</span>
|
||
2022 Nov 12;12(1):19381.
|
||
doi: 10.1038/s41598-022-23944-w.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36371419" target="_blank">36371419</a><a href="/pmc/articles/PMC9653385" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
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<div class="nl"><a target="_blank" href="/pubmed/34398431">A case of primary CNS embryonal rhabdomyosarcoma with PAX3-NCOA2 fusion and systematic meta-review.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Tanaka R,
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Inoue K,
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Yamada Y,
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Yoshida M,
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Shima H,
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Ito J,
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Okita H,
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Miwa T,
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Kato M,
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Shimada H</span><br />
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<span class="medgenPMjournal">J Neurooncol</span>
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2021 Sep;154(2):247-256.
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Epub 2021 Aug 16
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doi: 10.1007/s11060-021-03823-6.
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||
<span class="bold">PMID: </span><a href="/pubmed/34398431" target="_blank">34398431</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30587930">Efficacy of neoadjuvant platinum-based chemotherapy during the second and third trimester of pregnancy in women with cervical cancer: an updated systematic review and meta-analysis.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Song Y,
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Liu Y,
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Lin M,
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<span class="bold">PMID: </span><a href="/pubmed/30587930" target="_blank">30587930</a><a href="/pmc/articles/PMC6304076" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Embryonal%20rhabdomyosarcoma%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 (4)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
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||
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|
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|
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<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
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|
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|
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|
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Table_of_contents">Table of contents</h1><a sid="113" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C0206656%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (2)</a></li>
|
||
<li><a href="/gtr/tests?term=C0206656%5bDISCUI%5d&filter=method%3A2%5F9" target="_blank">Sequence analysis of select exons (1)</a></li>
|
||
<li><a href="/gtr/tests?term=C0206656%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (3)</a></li>
|
||
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<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22embryonal%20rhabdomyosarcoma%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(%22Embryonal%20rhabdomyosarcoma%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/sarcoma.pdf">NCCN, 2024</a><div>NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®), Soft Tissue Sarcoma, 2024</div></li></ul></div>
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