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<title>
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Entry
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- #268220 - RHABDOMYOSARCOMA 2; RMS2
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- OMIM
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<a href="#pathogenesis">Pathogenesis</a>
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<div><a href="#mimEuroGentestFold" id="mimEuroGentestToggle" data-toggle="collapse" class="mim-tip-hint mimTriangleToggle" title="A list of European laboratories that offer genetic testing."><span id="mimEuroGentestToggleTriangle" class="small" style="margin-left: -0.8em;">►</span>EuroGentest</div>
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<div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=883&Typ=Pat" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">Rhabdomyosarcoma </a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=14329&Typ=Pat" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">Alveolar rhabdomyosarcoma </a></div>
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<div><a href="https://www.diseaseinfosearch.org/x/6303" class="mim-tip-hint" title="Network of disease-specific advocacy organizations, universities, private companies, government agencies, and public policy organizations." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Genetic Alliance', 'domain': 'diseaseinfosearch.org'})">Genetic Alliance</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=268220[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></div>
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<div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=780" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">Rhabdomyosarcoma</a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=99756" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">Alveolar rhabdomyosarcoma</a></div>
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<div><a href="https://www.alliancegenome.org/disease/DOID:4051" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></div>
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<div><a href="http://www.informatics.jax.org/disease/268220" class="mim-tip-hint" title="Phenotypes, alleles, and disease models from Mouse Genome Informatics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Phenotype', 'domain': 'informatics.jax.org'})">MGI Mouse Phenotype</a></div>
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<div><a href="https://wormbase.org/resources/disease/DOID:4051" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Disease Ontology', 'domain': 'wormbase.org'})">Wormbase Disease Ontology</a></div>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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<a id="title" class="mim-anchor"></a>
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>SNOMEDCT:</strong> 404053004, 63449009<br />
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<strong>ORPHA:</strong> 780, 99756<br />
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<strong>DO:</strong> 4051<br />
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">ICD+</a>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Phenotype description, molecular basis known">
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<span class="text-danger"><strong>#</strong></span>
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268220
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<a id="preferredTitle" class="mim-anchor"></a>
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<h3>
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<span class="mim-font">
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RHABDOMYOSARCOMA 2; RMS2
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</h3>
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<br />
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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<div>
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<h4>
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<span class="mim-font">
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RHABDOMYOSARCOMA, ALVEOLAR; RMSA
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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<div>
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<a id="phenotypeMap" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>Phenotype-Gene Relationships</strong>
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</span>
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</h4>
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<div>
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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<th>
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Gene/Locus
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</th>
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<th>
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Gene/Locus <br /> MIM number
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
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<td>
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<span class="mim-font">
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<a href="/geneMap/1/217?start=-3&limit=10&highlight=217">
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1p36.13
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</a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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Rhabdomyosarcoma 2, alveolar
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/268220"> 268220 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Somatic mutation">SMu</abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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PAX7
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/167410"> 167410 </a>
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</span>
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</td>
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</tr>
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<tr>
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<td>
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<span class="mim-font">
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<a href="/geneMap/2/1053?start=-3&limit=10&highlight=1053">
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2q36.1
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</a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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Rhabdomyosarcoma 2, alveolar
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/268220"> 268220 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Somatic mutation">SMu</abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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PAX3
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/606597"> 606597 </a>
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</span>
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</td>
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</tr>
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<tr>
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<td>
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<span class="mim-font">
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<a href="/geneMap/13/122?start=-3&limit=10&highlight=122">
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13q14.11
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</a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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Rhabdomyosarcoma, alveolar
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/268220"> 268220 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Somatic mutation">SMu</abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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FOXO1A
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/136533"> 136533 </a>
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<div class="btn-group ">
|
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<a href="/clinicalSynopsis/268220" class="btn btn-warning" role="button"> Clinical Synopsis </a>
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<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-warning dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimClinicalSynopsisFold" onclick="ga('send', 'event', 'Unfurl', 'ClinicalSynopsis', 'omim.org')">
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<span class="caret"></span>
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<span class="sr-only">Toggle Dropdown</span>
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</button>
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</div>
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<div class="btn-group">
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<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
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PheneGene Graphics <span class="caret"></span>
|
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</button>
|
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<ul class="dropdown-menu" style="width: 17em;">
|
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<li><a href="/graph/linear/268220" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
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<li><a href="/graph/radial/268220" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
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</ul>
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</div>
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<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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<div>
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<p />
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</div>
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<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
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<div class="small" style="margin: 5px">
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<div>
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<div>
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<span class="h5 mim-font">
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<strong> INHERITANCE </strong>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<div>
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<span class="mim-font">
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- Somatic mutation <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/124975008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">124975008</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1866227&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1866227</a>, <a href="https://bioportal.bioontology.org/search?q=C0544886&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0544886</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001442" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001442</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001442" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001442</a>]</span><br />
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</span>
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</div>
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
|
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<strong> NEOPLASIA </strong>
|
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</span>
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</div>
|
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<div style="margin-left: 2em;">
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<div>
|
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<span class="mim-font">
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- Alveolar rhabdomyosarcoma <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/63449009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">63449009</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/404053004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">404053004</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0206655&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0206655</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0006779" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0006779</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0006779" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0006779</a>]</span><br />
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</span>
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</div>
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
|
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<strong> MOLECULAR BASIS </strong>
|
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</span>
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</div>
|
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<div style="margin-left: 2em;">
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<div>
|
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<span class="mim-font">
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- Caused by fusion of the FKHR gene (<a href="/entry/136533">136533</a>) with the PAX3 gene (<a href="/entry/606597">606597</a>) or the PAX7 gene (<a href="/entry/167410">167410</a>)<br />
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</span>
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</div>
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</div>
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</div>
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<div class="text-right">
|
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<a href="#mimClinicalSynopsisFold" data-toggle="collapse">▲ Close</a>
|
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</div>
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</div>
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</div>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="text" class="mim-anchor"></a>
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<h4 href="#mimTextFold" id="mimTextToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
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<span id="mimTextToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<span class="mim-font">
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
|
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<strong>TEXT</strong>
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</span>
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</span>
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</h4>
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<div id="mimTextFold" class="collapse in ">
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<span class="mim-text-font">
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<p>A number sign (#) is used with this entry because of evidence that alveolar rhabdomyosarcoma results from fusion of the PAX3 gene (<a href="/entry/606597">606597</a>) on chromosome 2 with the FKHR gene (FOXO1A; <a href="/entry/136533">136533</a>) on chromosome 13 as a result of a translocation t(2;13), or from fusion of the PAX7 gene (<a href="/entry/167410">167410</a>) on chromosome 1 with the FKHR gene as a result of a translocation t(1;13).</p>
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</span>
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<div>
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<br />
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</div>
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</div>
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<div>
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<a id="cytogenetics" class="mim-anchor"></a>
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<h4 href="#mimCytogeneticsFold" id="mimCytogeneticsToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimCytogeneticsToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<span class="mim-font">
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<strong>Cytogenetics</strong>
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</span>
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</h4>
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</div>
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<div id="mimCytogeneticsFold" class="collapse in mimTextToggleFold">
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<span class="mim-text-font">
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<p><a href="#6" class="mim-tip-reference" title="Douglass, E. C., Valentine, M., Etcubanas, E., Parham, D., Webber, B. L., Houghton, P. J., Houghton, J. A., Green, A. A. <strong>A specific chromosomal abnormality in rhabdomyosarcoma.</strong> Cytogenet. Cell Genet. 45: 148-155, 1987. Note: Erratum: Cytogenet. Cell Genet. 47: following 232, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3691179/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3691179</a>] [<a href="https://doi.org/10.1159/000132446" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3691179">Douglass et al. (1987)</a> found a specific translocation, t(2;13)(q35;q14), in 5 cases of advanced rhabdomyosarcoma. It was identified directly in cells that had metastasized from bone marrow in 1 patient, and in xenografts derived from the tumors of 4 other patients. <a href="#11" class="mim-tip-reference" title="Wang-Wuu, S., Soukup, S., Ballard, E., Gotwals, B., Lampkin, B. <strong>Chromosomal analysis of sixteen human rhabdomyosarcomas.</strong> Cancer Res. 48: 983-987, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3338090/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3338090</a>]" pmid="3338090">Wang-Wuu et al. (1988)</a> did chromosomal analysis of 16 rhabdomyosarcomas (4 primary tumors and 12 tumors after nude mouse passage). Of 7 alveolar tumors, 4 had t(2;13)(q37;q14); in 2 of these it was the only structural abnormality. Eight of 9 embryonal tumors had trisomy 2. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=3338090+3691179" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a rhabdomyosarcoma of the eyelid present at birth, <a href="#8" class="mim-tip-reference" title="Hayashi, Y., Inaba, T., Hanada, R., Yamamoto, K. <strong>Translocation 2;8 in a congenital rhabdomyosarcoma.</strong> Cancer Genet. Cytogenet. 30: 343-345, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3342389/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3342389</a>] [<a href="https://doi.org/10.1016/0165-4608(88)90208-7" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3342389">Hayashi et al. (1988)</a> found a translocation t(2;8)(q37;q13). They considered that the region 2q37 may be important in the development of this neoplasm. The tumor had features of embryonal rhabdomyosarcoma with no features typical of alveolar structures. Thus, there appeared to be 2 loci involved in rhabdomyosarcoma: one on chromosome 11 (see <a href="/entry/268210">268210</a>) and one on chromosome 2. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3342389" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>By a physical mapping strategy, <a href="#4" class="mim-tip-reference" title="Barr, F. G., Sellinger, B., Emanuel, B. S. <strong>Localization of the rhabdomyosarcoma t(2;13) breakpoint on a physical map of chromosome 13.</strong> Genomics 11: 941-947, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1783402/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1783402</a>] [<a href="https://doi.org/10.1016/0888-7543(91)90018-a" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1783402">Barr et al. (1991)</a> delimited the rhabdomyosarcoma t(2;13) breakpoint to a narrow region of chromosome 13. <a href="#9" class="mim-tip-reference" title="Shapiro, D. N., Valentine, M. B., Sublett, J. E., Sinclair, A. E., Tereba, A. M., Scheffer, H., Buys, C. H. C. M., Look, A. T. <strong>Chromosomal sublocalization of the 2;13 translocation breakpoint in alveolar rhabdomyosarcoma.</strong> Genes Chromosomes Cancer 4: 241-249, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1382566/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1382566</a>] [<a href="https://doi.org/10.1002/gcc.2870040309" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1382566">Shapiro et al. (1992)</a> demonstrated that the FLT oncogene (<a href="/entry/165070">165070</a>), previously localized to 13q12 by in situ hybridization, is located proximal to the chromosome 13 breakpoint and is not a target for disruption by the tumor specific translocation t(2;13). <a href="#9" class="mim-tip-reference" title="Shapiro, D. N., Valentine, M. B., Sublett, J. E., Sinclair, A. E., Tereba, A. M., Scheffer, H., Buys, C. H. C. M., Look, A. T. <strong>Chromosomal sublocalization of the 2;13 translocation breakpoint in alveolar rhabdomyosarcoma.</strong> Genes Chromosomes Cancer 4: 241-249, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1382566/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1382566</a>] [<a href="https://doi.org/10.1002/gcc.2870040309" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1382566">Shapiro et al. (1992)</a> and <a href="#3" class="mim-tip-reference" title="Barr, F. G., Holick, J., Nycum, L., Biegel, J. A., Emanuel, B. S. <strong>Localization of the t(2;13) breakpoint of alveolar rhabdomyosarcoma on a physical map of chromosome 2.</strong> Genomics 13: 1150-1156, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1505949/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1505949</a>] [<a href="https://doi.org/10.1016/0888-7543(92)90030-v" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1505949">Barr et al. (1992)</a> gave the breakpoint in chromosome 2 as q35 and the breakpoint in chromosome 13 as q14. <a href="#3" class="mim-tip-reference" title="Barr, F. G., Holick, J., Nycum, L., Biegel, J. A., Emanuel, B. S. <strong>Localization of the t(2;13) breakpoint of alveolar rhabdomyosarcoma on a physical map of chromosome 2.</strong> Genomics 13: 1150-1156, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1505949/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1505949</a>] [<a href="https://doi.org/10.1016/0888-7543(92)90030-v" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1505949">Barr et al. (1992)</a> compared the location of the breakpoint on chromosome 2 with the breakpoints in other cell lines and, by a comparison with the linkage map of the syntenic region on mouse chromosome 1, concluded that the t(2;13) breakpoint is probably most closely flanked by loci INHA (<a href="/entry/147380">147380</a>) and ALPI (<a href="/entry/171740">171740</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1382566+1783402+1505949" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#2" class="mim-tip-reference" title="Barr, F. G., Galili, N., Holick, J., Biegel, J. A., Rovera, G., Emanuel, B. S. <strong>Rearrangement of the PAX3 paired box gene in the paediatric solid tumour alveolar rhabdomyosarcoma.</strong> Nature Genet. 3: 113-117, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8098985/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8098985</a>] [<a href="https://doi.org/10.1038/ng0293-113" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8098985">Barr et al. (1993)</a> determined that PAX3 (<a href="/entry/606597">606597</a>), which had previously been found to be mutated in Waardenburg syndrome, was affected by a t(2;13)(q35;q14) translocation associated with alveolar rhabdomyosarcoma. The rearrangement breakpoints occurred within an intron downstream of the paired box and homeodomain-encoding regions. Upstream PAX3 sequences hybridized to a novel transcript in t(2;13)-containing lines. <a href="#7" class="mim-tip-reference" title="Galili, N., Davis, R. J., Fredericks, W. J., Mukhopadhyay, S., Rauscher, F. J., III, Emanuel, B. S., Rovera, G., Barr, F. G. <strong>Fusion of a fork head domain gene to PAX3 in the solid tumour alveolar rhabdomyosarcoma.</strong> Nature Genet. 5: 230-235, 1993. Note: Erratum: Nature Genet. 6: 214 only, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8275086/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8275086</a>] [<a href="https://doi.org/10.1038/ng1193-230" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8275086">Galili et al. (1993)</a> demonstrated that the chromosome 13 gene that is fused with PAX3 is a member of the 'forkhead' domain family (FKHR). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8098985+8275086" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#5" class="mim-tip-reference" title="Bennicelli, J. L., Edwards, R. H., Barr, F. G. <strong>Mechanism for transcriptional gain of function resulting from chromosomal translocation in alveolar rhabdomyosarcoma.</strong> Proc. Nat. Acad. Sci. 93: 5455-5459, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8643596/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8643596</a>] [<a href="https://doi.org/10.1073/pnas.93.11.5455" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8643596">Bennicelli et al. (1996)</a> studied the mechanism for transcriptional gain of function resulting from a PAX3-FKHR fusion. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8643596" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>Among primary rhabdomyosarcoma tumors, <a href="#1" class="mim-tip-reference" title="Anderson, J., Gordon, T., McManus, A., Mapp, T., Gould, S., Kelsey, A., McDowell, H., Pinkerton, R., Shipley, J., Pritchard-Jones, K. <strong>Detection of the PAX3-FKHR fusion gene in paediatric rhabdomyosarcoma: a reproducible predictor of outcome?</strong> Brit. J. Cancer 85: 831-835, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11556833/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11556833</a>] [<a href="https://doi.org/10.1054/bjoc.2001.2008" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11556833">Anderson et al. (2001)</a> found that 37 had t(2;13)/PAX3-FKHR, 8 had t(1;13) PAX7-FKHR, and 46 had neither translocation. One or the other of the characteristic translocations was found in 31 of 38 (82%) of alveolar cases. Univariate survival analysis showed the presence of the translocation t(2;13)/PAX3-FKHR to be an adverse prognostic factor. The authors suggested that with the difficulties in morphologic diagnosis of alveolar rhabdomyosarcoma on small needle biopsy specimens, the molecular data may be useful in treatment stratification. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11556833" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#10" class="mim-tip-reference" title="Sharp, R., Recio, J. A., Jhappan, C., Otsuka, T., Liu, S., Yu, Y., Liu, W., Anver, M., Navid, F., Helman, L. J., DePinho, R. A., Merlino, G. <strong>Synergism between INK4a/ARF inactivation and aberrant HGF/SF signaling in rhabdomyosarcomagenesis.</strong> Nature Med. 8: 1276-1280, 2002. Note: Erratum: Nature Med. 9: 146 only, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12368906/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12368906</a>] [<a href="https://doi.org/10.1038/nm787" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12368906">Sharp et al. (2002)</a> showed that simultaneous loss of Ink4a/Arf (<a href="/entry/600160">600160</a>) function and disruption of Met (<a href="/entry/164860">164860</a>) signaling in Ink4a/Arf -/- mice transgenic for hepatocyte growth factor/scatter factor (Hgf/Sf; <a href="/entry/142409">142409</a>) induces rhabdomyosarcoma with extremely high penetrance and short latency. In cultured myoblasts, Met activation and Ink4a/Arf loss suppressed myogenesis in an additive fashion. <a href="#10" class="mim-tip-reference" title="Sharp, R., Recio, J. A., Jhappan, C., Otsuka, T., Liu, S., Yu, Y., Liu, W., Anver, M., Navid, F., Helman, L. J., DePinho, R. A., Merlino, G. <strong>Synergism between INK4a/ARF inactivation and aberrant HGF/SF signaling in rhabdomyosarcomagenesis.</strong> Nature Med. 8: 1276-1280, 2002. Note: Erratum: Nature Med. 9: 146 only, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12368906/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12368906</a>] [<a href="https://doi.org/10.1038/nm787" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12368906">Sharp et al. (2002)</a> concluded that human MET and INK4A/ARF, situated at the nexus of pathways regulating myogenic growth and differentiation, represent critical targets in rhabdomyosarcoma pathogenesis. The marked synergism in mice between aberrant MET signaling and INK4A/ARF inactivation, lesions individually implicated in human rhabdomyosarcoma, suggested a therapeutic combination to combat this devastating childhood cancer. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12368906" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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Anderson, J., Gordon, T., McManus, A., Mapp, T., Gould, S., Kelsey, A., McDowell, H., Pinkerton, R., Shipley, J., Pritchard-Jones, K.
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<strong>Detection of the PAX3-FKHR fusion gene in paediatric rhabdomyosarcoma: a reproducible predictor of outcome?</strong>
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Brit. J. Cancer 85: 831-835, 2001.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11556833/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11556833</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11556833" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1054/bjoc.2001.2008" target="_blank">Full Text</a>]
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Barr, F. G., Galili, N., Holick, J., Biegel, J. A., Rovera, G., Emanuel, B. S.
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<strong>Rearrangement of the PAX3 paired box gene in the paediatric solid tumour alveolar rhabdomyosarcoma.</strong>
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Nature Genet. 3: 113-117, 1993.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8098985/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8098985</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8098985" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/ng0293-113" target="_blank">Full Text</a>]
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Barr, F. G., Holick, J., Nycum, L., Biegel, J. A., Emanuel, B. S.
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<strong>Localization of the t(2;13) breakpoint of alveolar rhabdomyosarcoma on a physical map of chromosome 2.</strong>
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Genomics 13: 1150-1156, 1992.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1505949/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1505949</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1505949" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/0888-7543(92)90030-v" target="_blank">Full Text</a>]
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Barr, F. G., Sellinger, B., Emanuel, B. S.
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<strong>Localization of the rhabdomyosarcoma t(2;13) breakpoint on a physical map of chromosome 13.</strong>
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Genomics 11: 941-947, 1991.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1783402/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1783402</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1783402" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/0888-7543(91)90018-a" target="_blank">Full Text</a>]
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Bennicelli, J. L., Edwards, R. H., Barr, F. G.
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<strong>Mechanism for transcriptional gain of function resulting from chromosomal translocation in alveolar rhabdomyosarcoma.</strong>
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Proc. Nat. Acad. Sci. 93: 5455-5459, 1996.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8643596/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8643596</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8643596" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1073/pnas.93.11.5455" target="_blank">Full Text</a>]
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Douglass, E. C., Valentine, M., Etcubanas, E., Parham, D., Webber, B. L., Houghton, P. J., Houghton, J. A., Green, A. A.
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<strong>A specific chromosomal abnormality in rhabdomyosarcoma.</strong>
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Cytogenet. Cell Genet. 45: 148-155, 1987. Note: Erratum: Cytogenet. Cell Genet. 47: following 232, 1988.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3691179/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3691179</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3691179" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1159/000132446" target="_blank">Full Text</a>]
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Galili, N., Davis, R. J., Fredericks, W. J., Mukhopadhyay, S., Rauscher, F. J., III, Emanuel, B. S., Rovera, G., Barr, F. G.
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<strong>Fusion of a fork head domain gene to PAX3 in the solid tumour alveolar rhabdomyosarcoma.</strong>
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Nature Genet. 5: 230-235, 1993. Note: Erratum: Nature Genet. 6: 214 only, 1994.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8275086/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8275086</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8275086" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/ng1193-230" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="8" class="mim-anchor"></a>
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<a id="Hayashi1988" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Hayashi, Y., Inaba, T., Hanada, R., Yamamoto, K.
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<strong>Translocation 2;8 in a congenital rhabdomyosarcoma.</strong>
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Cancer Genet. Cytogenet. 30: 343-345, 1988.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3342389/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3342389</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3342389" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/0165-4608(88)90208-7" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="9" class="mim-anchor"></a>
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<a id="Shapiro1992" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Shapiro, D. N., Valentine, M. B., Sublett, J. E., Sinclair, A. E., Tereba, A. M., Scheffer, H., Buys, C. H. C. M., Look, A. T.
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<strong>Chromosomal sublocalization of the 2;13 translocation breakpoint in alveolar rhabdomyosarcoma.</strong>
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Genes Chromosomes Cancer 4: 241-249, 1992.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1382566/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1382566</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1382566" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/gcc.2870040309" target="_blank">Full Text</a>]
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</p>
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</div>
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<li>
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<a id="10" class="mim-anchor"></a>
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<a id="Sharp2002" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Sharp, R., Recio, J. A., Jhappan, C., Otsuka, T., Liu, S., Yu, Y., Liu, W., Anver, M., Navid, F., Helman, L. J., DePinho, R. A., Merlino, G.
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<strong>Synergism between INK4a/ARF inactivation and aberrant HGF/SF signaling in rhabdomyosarcomagenesis.</strong>
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Nature Med. 8: 1276-1280, 2002. Note: Erratum: Nature Med. 9: 146 only, 2003.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12368906/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12368906</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12368906" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/nm787" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="11" class="mim-anchor"></a>
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<a id="Wang-Wuu1988" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Wang-Wuu, S., Soukup, S., Ballard, E., Gotwals, B., Lampkin, B.
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<strong>Chromosomal analysis of sixteen human rhabdomyosarcomas.</strong>
|
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Cancer Res. 48: 983-987, 1988.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3338090/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3338090</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3338090" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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</p>
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</ol>
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<br />
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<a id="contributors" class="mim-anchor"></a>
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="mim-text-font">
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Contributors:
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Ada Hamosh - updated : 11/15/2002
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</span>
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</div>
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</div>
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<div>
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<a id="creationDate" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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Creation Date:
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Victor A. McKusick : 6/30/1988
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</span>
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</div>
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</div>
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<a id="editHistory" class="mim-anchor"></a>
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 12/30/2013
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</span>
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</div>
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<div class="row collapse" id="mimCollapseEditHistory">
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<div class="col-lg-offset-2 col-md-offset-2 col-sm-offset-4 col-xs-offset-4 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 4/3/2013<br>terry : 11/28/2012<br>terry : 11/13/2012<br>alopez : 1/30/2004<br>alopez : 3/4/2003<br>alopez : 11/18/2002<br>terry : 11/15/2002<br>carol : 7/8/2002<br>carol : 1/8/2002<br>carol : 6/15/1998<br>terry : 5/22/1998<br>mark : 6/24/1996<br>terry : 6/12/1996<br>mark : 2/14/1996<br>terry : 2/8/1996<br>terry : 5/10/1994<br>mimadm : 3/12/1994<br>carol : 2/28/1994<br>carol : 12/22/1993<br>carol : 3/30/1993<br>carol : 8/31/1992
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</span>
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<div>
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<div>
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<h3>
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<span class="mim-font">
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<strong>#</strong> 268220
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</span>
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</h3>
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</div>
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<div>
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<h3>
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<span class="mim-font">
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RHABDOMYOSARCOMA 2; RMS2
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</span>
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</h3>
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</div>
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<div>
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<br />
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<div >
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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<div>
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<h4>
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<span class="mim-font">
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RHABDOMYOSARCOMA, ALVEOLAR; RMSA
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</span>
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</div>
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<div>
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<br />
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<div>
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<p>
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<span class="mim-text-font">
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<strong>SNOMEDCT:</strong> 404053004, 63449009;
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<strong>ORPHA:</strong> 780, 99756;
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<strong>DO:</strong> 4051;
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Phenotype-Gene Relationships</strong>
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</span>
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</h4>
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<div>
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<table class="table table-bordered table-condensed small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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<th>
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Gene/Locus
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</th>
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<th>
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Gene/Locus <br /> MIM number
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<tbody>
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<tr>
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<td>
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<span class="mim-font">
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1p36.13
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</span>
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</td>
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<td>
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<span class="mim-font">
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Rhabdomyosarcoma 2, alveolar
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</span>
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</td>
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<td>
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<span class="mim-font">
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268220
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</span>
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</td>
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<td>
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<span class="mim-font">
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Somatic mutation
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</span>
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</td>
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<td>
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<span class="mim-font">
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3
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</span>
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</td>
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<td>
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<span class="mim-font">
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PAX7
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</span>
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</td>
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<td>
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<span class="mim-font">
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167410
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</span>
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<tr>
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<td>
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<span class="mim-font">
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2q36.1
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</td>
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<td>
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<span class="mim-font">
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Rhabdomyosarcoma 2, alveolar
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</span>
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</td>
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<td>
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<span class="mim-font">
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268220
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</span>
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</td>
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<td>
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<span class="mim-font">
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Somatic mutation
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</span>
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</td>
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<td>
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<span class="mim-font">
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3
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</span>
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</td>
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<td>
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<span class="mim-font">
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PAX3
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</span>
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</td>
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<td>
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<span class="mim-font">
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606597
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</span>
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</td>
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</tr>
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<tr>
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<td>
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<span class="mim-font">
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13q14.11
|
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</span>
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</td>
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<td>
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<span class="mim-font">
|
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Rhabdomyosarcoma, alveolar
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</span>
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</td>
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<td>
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<span class="mim-font">
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268220
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</span>
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</td>
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<td>
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<span class="mim-font">
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Somatic mutation
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</span>
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</td>
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<td>
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<span class="mim-font">
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3
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</span>
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</td>
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<td>
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<span class="mim-font">
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FOXO1A
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</span>
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</td>
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<td>
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<span class="mim-font">
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136533
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>TEXT</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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<p>A number sign (#) is used with this entry because of evidence that alveolar rhabdomyosarcoma results from fusion of the PAX3 gene (606597) on chromosome 2 with the FKHR gene (FOXO1A; 136533) on chromosome 13 as a result of a translocation t(2;13), or from fusion of the PAX7 gene (167410) on chromosome 1 with the FKHR gene as a result of a translocation t(1;13).</p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Cytogenetics</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Douglass et al. (1987) found a specific translocation, t(2;13)(q35;q14), in 5 cases of advanced rhabdomyosarcoma. It was identified directly in cells that had metastasized from bone marrow in 1 patient, and in xenografts derived from the tumors of 4 other patients. Wang-Wuu et al. (1988) did chromosomal analysis of 16 rhabdomyosarcomas (4 primary tumors and 12 tumors after nude mouse passage). Of 7 alveolar tumors, 4 had t(2;13)(q37;q14); in 2 of these it was the only structural abnormality. Eight of 9 embryonal tumors had trisomy 2. </p><p>In a rhabdomyosarcoma of the eyelid present at birth, Hayashi et al. (1988) found a translocation t(2;8)(q37;q13). They considered that the region 2q37 may be important in the development of this neoplasm. The tumor had features of embryonal rhabdomyosarcoma with no features typical of alveolar structures. Thus, there appeared to be 2 loci involved in rhabdomyosarcoma: one on chromosome 11 (see 268210) and one on chromosome 2. </p><p>By a physical mapping strategy, Barr et al. (1991) delimited the rhabdomyosarcoma t(2;13) breakpoint to a narrow region of chromosome 13. Shapiro et al. (1992) demonstrated that the FLT oncogene (165070), previously localized to 13q12 by in situ hybridization, is located proximal to the chromosome 13 breakpoint and is not a target for disruption by the tumor specific translocation t(2;13). Shapiro et al. (1992) and Barr et al. (1992) gave the breakpoint in chromosome 2 as q35 and the breakpoint in chromosome 13 as q14. Barr et al. (1992) compared the location of the breakpoint on chromosome 2 with the breakpoints in other cell lines and, by a comparison with the linkage map of the syntenic region on mouse chromosome 1, concluded that the t(2;13) breakpoint is probably most closely flanked by loci INHA (147380) and ALPI (171740). </p><p>Barr et al. (1993) determined that PAX3 (606597), which had previously been found to be mutated in Waardenburg syndrome, was affected by a t(2;13)(q35;q14) translocation associated with alveolar rhabdomyosarcoma. The rearrangement breakpoints occurred within an intron downstream of the paired box and homeodomain-encoding regions. Upstream PAX3 sequences hybridized to a novel transcript in t(2;13)-containing lines. Galili et al. (1993) demonstrated that the chromosome 13 gene that is fused with PAX3 is a member of the 'forkhead' domain family (FKHR). </p><p>Bennicelli et al. (1996) studied the mechanism for transcriptional gain of function resulting from a PAX3-FKHR fusion. </p><p>Among primary rhabdomyosarcoma tumors, Anderson et al. (2001) found that 37 had t(2;13)/PAX3-FKHR, 8 had t(1;13) PAX7-FKHR, and 46 had neither translocation. One or the other of the characteristic translocations was found in 31 of 38 (82%) of alveolar cases. Univariate survival analysis showed the presence of the translocation t(2;13)/PAX3-FKHR to be an adverse prognostic factor. The authors suggested that with the difficulties in morphologic diagnosis of alveolar rhabdomyosarcoma on small needle biopsy specimens, the molecular data may be useful in treatment stratification. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
|
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<strong>Pathogenesis</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Sharp et al. (2002) showed that simultaneous loss of Ink4a/Arf (600160) function and disruption of Met (164860) signaling in Ink4a/Arf -/- mice transgenic for hepatocyte growth factor/scatter factor (Hgf/Sf; 142409) induces rhabdomyosarcoma with extremely high penetrance and short latency. In cultured myoblasts, Met activation and Ink4a/Arf loss suppressed myogenesis in an additive fashion. Sharp et al. (2002) concluded that human MET and INK4A/ARF, situated at the nexus of pathways regulating myogenic growth and differentiation, represent critical targets in rhabdomyosarcoma pathogenesis. The marked synergism in mice between aberrant MET signaling and INK4A/ARF inactivation, lesions individually implicated in human rhabdomyosarcoma, suggested a therapeutic combination to combat this devastating childhood cancer. </p>
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</span>
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<div>
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<br />
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</div>
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</div>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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Anderson, J., Gordon, T., McManus, A., Mapp, T., Gould, S., Kelsey, A., McDowell, H., Pinkerton, R., Shipley, J., Pritchard-Jones, K.
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<strong>Detection of the PAX3-FKHR fusion gene in paediatric rhabdomyosarcoma: a reproducible predictor of outcome?</strong>
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Brit. J. Cancer 85: 831-835, 2001.
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[PubMed: 11556833]
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[Full Text: https://doi.org/10.1054/bjoc.2001.2008]
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Barr, F. G., Galili, N., Holick, J., Biegel, J. A., Rovera, G., Emanuel, B. S.
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<strong>Rearrangement of the PAX3 paired box gene in the paediatric solid tumour alveolar rhabdomyosarcoma.</strong>
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Nature Genet. 3: 113-117, 1993.
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[PubMed: 8098985]
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[Full Text: https://doi.org/10.1038/ng0293-113]
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Barr, F. G., Holick, J., Nycum, L., Biegel, J. A., Emanuel, B. S.
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<strong>Localization of the t(2;13) breakpoint of alveolar rhabdomyosarcoma on a physical map of chromosome 2.</strong>
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Genomics 13: 1150-1156, 1992.
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[PubMed: 1505949]
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[Full Text: https://doi.org/10.1016/0888-7543(92)90030-v]
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<li>
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<p class="mim-text-font">
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Barr, F. G., Sellinger, B., Emanuel, B. S.
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<strong>Localization of the rhabdomyosarcoma t(2;13) breakpoint on a physical map of chromosome 13.</strong>
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Genomics 11: 941-947, 1991.
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[PubMed: 1783402]
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[Full Text: https://doi.org/10.1016/0888-7543(91)90018-a]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Bennicelli, J. L., Edwards, R. H., Barr, F. G.
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<strong>Mechanism for transcriptional gain of function resulting from chromosomal translocation in alveolar rhabdomyosarcoma.</strong>
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Proc. Nat. Acad. Sci. 93: 5455-5459, 1996.
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[PubMed: 8643596]
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[Full Text: https://doi.org/10.1073/pnas.93.11.5455]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Douglass, E. C., Valentine, M., Etcubanas, E., Parham, D., Webber, B. L., Houghton, P. J., Houghton, J. A., Green, A. A.
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<strong>A specific chromosomal abnormality in rhabdomyosarcoma.</strong>
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Cytogenet. Cell Genet. 45: 148-155, 1987. Note: Erratum: Cytogenet. Cell Genet. 47: following 232, 1988.
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[PubMed: 3691179]
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[Full Text: https://doi.org/10.1159/000132446]
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</p>
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<li>
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<p class="mim-text-font">
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Galili, N., Davis, R. J., Fredericks, W. J., Mukhopadhyay, S., Rauscher, F. J., III, Emanuel, B. S., Rovera, G., Barr, F. G.
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<strong>Fusion of a fork head domain gene to PAX3 in the solid tumour alveolar rhabdomyosarcoma.</strong>
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Nature Genet. 5: 230-235, 1993. Note: Erratum: Nature Genet. 6: 214 only, 1994.
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[PubMed: 8275086]
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[Full Text: https://doi.org/10.1038/ng1193-230]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Hayashi, Y., Inaba, T., Hanada, R., Yamamoto, K.
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<strong>Translocation 2;8 in a congenital rhabdomyosarcoma.</strong>
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Cancer Genet. Cytogenet. 30: 343-345, 1988.
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[PubMed: 3342389]
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[Full Text: https://doi.org/10.1016/0165-4608(88)90208-7]
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<li>
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<p class="mim-text-font">
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Shapiro, D. N., Valentine, M. B., Sublett, J. E., Sinclair, A. E., Tereba, A. M., Scheffer, H., Buys, C. H. C. M., Look, A. T.
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<strong>Chromosomal sublocalization of the 2;13 translocation breakpoint in alveolar rhabdomyosarcoma.</strong>
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Genes Chromosomes Cancer 4: 241-249, 1992.
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[PubMed: 1382566]
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[Full Text: https://doi.org/10.1002/gcc.2870040309]
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<p class="mim-text-font">
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Sharp, R., Recio, J. A., Jhappan, C., Otsuka, T., Liu, S., Yu, Y., Liu, W., Anver, M., Navid, F., Helman, L. J., DePinho, R. A., Merlino, G.
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<strong>Synergism between INK4a/ARF inactivation and aberrant HGF/SF signaling in rhabdomyosarcomagenesis.</strong>
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Nature Med. 8: 1276-1280, 2002. Note: Erratum: Nature Med. 9: 146 only, 2003.
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[PubMed: 12368906]
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[Full Text: https://doi.org/10.1038/nm787]
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<p class="mim-text-font">
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Wang-Wuu, S., Soukup, S., Ballard, E., Gotwals, B., Lampkin, B.
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<strong>Chromosomal analysis of sixteen human rhabdomyosarcomas.</strong>
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Cancer Res. 48: 983-987, 1988.
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[PubMed: 3338090]
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</p>
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<span class="mim-text-font">
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Ada Hamosh - updated : 11/15/2002
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<span class="mim-text-font">
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Victor A. McKusick : 6/30/1988
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