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Entry
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- #612237 - CHONDROSARCOMA, EXTRASKELETAL MYXOID
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- OMIM
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<p>
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<span class="h4">#612237</span>
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<br />
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<strong>Table of Contents</strong>
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<a href="#title"><strong>Title</strong></a>
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<a href="#description">Description</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#clinicalFeatures">Clinical Features</a>
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<a href="#cytogenetics">Cytogenetics</a>
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<a href="#references"><strong>References</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<a href="#editHistory"><strong>Edit History</strong></a>
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<div style="display: table-cell;">External Links</div>
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</a>
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</h4>
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<div style="display: table-cell;">Clinical Resources</div>
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<div><a href="https://clinicaltrials.gov/search?cond=(CHONDROSARCOMA, EXTRASKELETAL MYXOID) OR (CSMF OR TAF15)" class="mim-tip-hint" title="Clinical Trials" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></div>
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<div><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=18668&Typ=Pat" class="mim-tip-hint" title="A list of European laboratories that offer genetic testing." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">EuroGentest</a></div>
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<div><a href="https://www.diseaseinfosearch.org/x/2623" 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=612237[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><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=209916" class="mim-tip-hint" title="European reference portal for information on rare diseases and orphan drugs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">OrphaNet</a></div>
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<span class="small">
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<div style="display: table-row">
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<div id="mimAnimalModelsLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Animal Models</div>
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</a>
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.alliancegenome.org/disease/DOID:4549" 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/612237" 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:4549" 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>
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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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<div>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>SNOMEDCT:</strong> 404079008<br />
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<strong>ORPHA:</strong> 209916<br />
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<strong>DO:</strong> 4549<br />
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">ICD+</a>
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<div>
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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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612237
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</span>
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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="preferredTitle" class="mim-anchor"></a>
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<h3>
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<span class="mim-font">
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CHONDROSARCOMA, EXTRASKELETAL MYXOID
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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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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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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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</span>
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</p>
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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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EMC
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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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</div>
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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/9/364?start=-3&limit=10&highlight=364">
|
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9q31.1
|
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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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Chondrosarcoma, extraskeletal myxoid
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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/612237"> 612237 </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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</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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CSMF
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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/600542"> 600542 </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/17/429?start=-3&limit=10&highlight=429">
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17q12
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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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Chondrosarcoma, extraskeletal myxoid
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</span>
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</td>
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<td>
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<span class="mim-font">
|
|
<a href="/entry/612237"> 612237 </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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</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="1 - The disorder is placed on the map due to its association with a gene, but the underlying defect is not known"> 1 </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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TAF15
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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/601574"> 601574 </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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<p>A number sign (#) is used with this entry because extraskeletal myxoid chondrosarcomas (EMCs) can be caused by somatic chromosomal translocations that result in fusion genes, most often between the NR4A3 (<a href="/entry/600542">600542</a>) and EWS (EWSR1; <a href="/entry/133450">133450</a>) genes, but also between NR4A3 and several other genes, including RBP56 (TAF15; <a href="/entry/601574">601574</a>), TCF12 (<a href="/entry/600480">600480</a>), and TFG (<a href="/entry/602498">602498</a>).</p>
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<p>Extraskeletal myxoid chondrosarcoma is a rare soft tissue neoplasm of chondroblastic origin. The tumors are most commonly found in middle-aged and elderly individuals, are more common among men, and are often detected as deep-seated lesions in the extremities. Despite their relatively low-grade malignancy, recurrence and metastasis may appear many years after the initial diagnosis. Histologic tissue section examination reveals a mixture of cellular and myxoid stromal components (<a href="#8" class="mim-tip-reference" title="Panagopoulos, I., Mertens, F., Isaksson, M., Domanski, H. A., Brosjo, O., Heim, S., Bjerkehagen, B., Sciot, R., Dal Cin, P., Fletcher, J. A., Fletcher, C. D. M., Mandahl, N. <strong>Molecular genetic characterization of the EWS/CHN and RBP56/CHN fusion genes in extraskeletal myxoid chondrosarcoma.</strong> Genes Chromosomes Cancer 35: 340-352, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12378528/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12378528</a>] [<a href="https://doi.org/10.1002/gcc.10127" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12378528">Panagopoulos et al., 2002</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12378528" 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="#3" class="mim-tip-reference" title="Hisaoka, M., Ishida, T., Imamura, T., Hashimoto, H. <strong>TFG is a novel fusion partner of NOR1 in extraskeletal myxoid chondrosarcoma.</strong> Genes Chromosomes Cancer 40: 325-328, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15188455/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15188455</a>] [<a href="https://doi.org/10.1002/gcc.20044" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15188455">Hisaoka et al. (2004)</a> reported a 41-year-old Japanese man who had a local excision for EMC in his right sole at age 36 years, and amputation of the right foot because of local recurrence 2 years later. He developed metastases in the lung and popliteal fossa and died 6 years after surgery for the metastases. Histologically, the lesion was characterized by lobular configurations of short spindle or oval cells arranged in a lacelike fashion or in a loose fascicular pattern with an abundant myxoid matrix. Molecular genetics identified an NR4A3/TFG fusion gene. <a href="#3" class="mim-tip-reference" title="Hisaoka, M., Ishida, T., Imamura, T., Hashimoto, H. <strong>TFG is a novel fusion partner of NOR1 in extraskeletal myxoid chondrosarcoma.</strong> Genes Chromosomes Cancer 40: 325-328, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15188455/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15188455</a>] [<a href="https://doi.org/10.1002/gcc.20044" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15188455">Hisaoka et al. (2004)</a> used the symbol NOR1 for the NR4A3 gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15188455" 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><strong><em>NR4A3/EWS Fusion Gene</em></strong></p><p>
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A recurrent t(9;22)(q22-31;q11-12) translocation was observed in EMCs by <a href="#2" class="mim-tip-reference" title="Hinrichs, S. H., Jaramillo, M. A., Gumerlock, P. H., Gardner, M. B., Lewis, J. P., Freeman, A. E. <strong>Myxoid chondrosarcoma with a translocation involving chromosomes 9 and 22.</strong> Cancer Genet. Cytogenet. 14: 219-226, 1985.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3967207/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3967207</a>] [<a href="https://doi.org/10.1016/0165-4608(85)90187-6" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3967207">Hinrichs et al. (1985)</a>, <a href="#11" class="mim-tip-reference" title="Turc-Carel, C., Dal Cin, P., Rao, U., Karakousis, C., Sandberg, A. A. <strong>Recurrent breakpoints at 9q31 and 22q12.2 in extraskeletal myxoid chondrosarcoma.</strong> Cancer Genet. Cytogenet. 30: 145-150, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3422040/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3422040</a>] [<a href="https://doi.org/10.1016/0165-4608(88)90103-3" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3422040">Turc-Carel et al. (1988)</a>, <a href="#6" class="mim-tip-reference" title="Orndal, C., Carlen, B., Akerman, M., Willen, H., Mandahl, N., Heim, S., Rydholm, A., Mitelman, F. <strong>Chromosomal abnormality t(9;22)(q22;q12) in an extraskeletal myxoid chondrosarcoma characterized by fine needle aspiration cytology, electron microscopy, immunohistochemistry and DNA flow cytometry.</strong> Cytopathology 2: 261-270, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1782363/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1782363</a>] [<a href="https://doi.org/10.1111/j.1365-2303.1991.tb00497.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1782363">Orndal et al. (1991)</a>, and <a href="#10" class="mim-tip-reference" title="Stenman, G., Andersson, H., Mandahl, N., Meis-Kindblom, J. M., Kindblom, L.-G. <strong>Translocation t(9;22)(q22;q12) is a primary cytogenetic abnormality in extraskeletal myxoid chondrosarcoma.</strong> Int. J. Cancer 62: 398-402, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7635565/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7635565</a>] [<a href="https://doi.org/10.1002/ijc.2910620407" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7635565">Stenman et al. (1995)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1782363+7635565+3422040+3967207" 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 tissue derived from a skeletal myxoid chondrosarcoma that had a t(9;22)(q22-31;q11-12) translocation, <a href="#1" class="mim-tip-reference" title="Gill, S., McManus, A. P., Crew, A. J., Benjamin, H., Sheer, D., Gusterson, B. A., Pinkerton, C. R., Patel, K., Cooper, C. S., Shipley, J. M. <strong>Fusion of the EWS gene to a DNA segment from 9q22-31 in a human myxoid chondrosarcoma.</strong> Genes Chromosomes Cancer 12: 307-310, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7539287/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7539287</a>] [<a href="https://doi.org/10.1002/gcc.2870120412" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7539287">Gill et al. (1995)</a> demonstrated that the segment on chromosome 9 was fused to the N-terminal region of the EWS gene as a result of the reciprocal translocation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7539287" 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="Labelle, Y., Zucman, J., Stenman, G., Kindblom, L.-G., Knight, J., Turc-Carel, C., Dockhorn-Dworniczak, B., Mandahl, N., Desmaze, C., Peter, M., Aurias, A., Delattre, O., Thomas, G. <strong>Oncogenic conversion of a novel orphan nuclear receptor by chromosome translocation.</strong> Hum. Molec. Genet. 4: 2219-2226, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8634690/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8634690</a>] [<a href="https://doi.org/10.1093/hmg/4.12.2219" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8634690">Labelle et al. (1995)</a> noted that in all known EWS fusion proteins, the RNA-recognition motif of EWS is replaced by the DNA-binding domain of the corresponding transcription factor. They demonstrated by fluorescence in situ hybridization that in 1 EMC tumor the chromosome 22 breakpoint occurred in the EWS gene. Northern blot analysis revealed an aberrant transcript that was cloned by a modified RT-PCR procedure. This transcript consisted of an in-frame fusion of the 5-prime end of EWS to the NR4A3 gene, which <a href="#5" class="mim-tip-reference" title="Labelle, Y., Zucman, J., Stenman, G., Kindblom, L.-G., Knight, J., Turc-Carel, C., Dockhorn-Dworniczak, B., Mandahl, N., Desmaze, C., Peter, M., Aurias, A., Delattre, O., Thomas, G. <strong>Oncogenic conversion of a novel orphan nuclear receptor by chromosome translocation.</strong> Hum. Molec. Genet. 4: 2219-2226, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8634690/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8634690</a>] [<a href="https://doi.org/10.1093/hmg/4.12.2219" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8634690">Labelle et al. (1995)</a> called TEC and which has also been symbolized CSMF. This fusion transcript was detected in 6 of 8 EMCs studied, and 3 different junction types between the 2 genes were found. EWS linked to the entire NR4A3 protein. Homology analysis showed that the predicted NR4A3 protein contains a DNA-binding domain characteristic of nuclear receptors. The highest identity scores were observed with the NURR1 family of orphan nuclear receptors (NR4A2; <a href="/entry/601828">601828</a>). (This situation is reminiscent of the FUS/CHOP fusion protein in which the entire CHOP (<a href="/entry/126337">126337</a>) protein is linked to the amino-terminal domain of FUS (<a href="/entry/137070">137070</a>) by an additional 26 amino acid sequence.) <a href="#5" class="mim-tip-reference" title="Labelle, Y., Zucman, J., Stenman, G., Kindblom, L.-G., Knight, J., Turc-Carel, C., Dockhorn-Dworniczak, B., Mandahl, N., Desmaze, C., Peter, M., Aurias, A., Delattre, O., Thomas, G. <strong>Oncogenic conversion of a novel orphan nuclear receptor by chromosome translocation.</strong> Hum. Molec. Genet. 4: 2219-2226, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8634690/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8634690</a>] [<a href="https://doi.org/10.1093/hmg/4.12.2219" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8634690">Labelle et al. (1995)</a> stated that the EWS/NR4A3 gene fusion is the second example of the oncogenic conversion of a nuclear receptor in human tumorigenesis, the first being the PML/RARA gene fusion (see <a href="/entry/180240">180240</a>; <a href="/entry/102578">102578</a>) generated by the t(15;17) translocation in acute promyelocytic leukemia. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8634690" 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 cotransfection experiments of COS cells and human chondrocytes, <a href="#4" class="mim-tip-reference" title="Labelle, Y., Bussieres, J., Courjal, F., Goldring, M. B. <strong>The EWS/TEC fusion protein encoded by the t(9;22) chromosomal translocation in human chondrosarcomas is a highly potent transcriptional activator.</strong> Oncogene 18: 3303-3308, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10359536/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10359536</a>] [<a href="https://doi.org/10.1038/sj.onc.1202675" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10359536">Labelle et al. (1999)</a> demonstrated that whereas NR4A3 moderately activates transcription from an NGFIB response element (NBRE)-containing promoter, a corresponding EWS/NR4A3 fusion protein, generated by the t(9;22) chromosomal translocation, is a highly potent transcriptional activator of the same promoter, being approximately 270-fold more active than the native receptor. EWS/NR4A3 may thus exert its oncogenic potential in chondrosarcomas by activating the transcription of target genes involved in cell proliferation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10359536" 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="#8" class="mim-tip-reference" title="Panagopoulos, I., Mertens, F., Isaksson, M., Domanski, H. A., Brosjo, O., Heim, S., Bjerkehagen, B., Sciot, R., Dal Cin, P., Fletcher, J. A., Fletcher, C. D. M., Mandahl, N. <strong>Molecular genetic characterization of the EWS/CHN and RBP56/CHN fusion genes in extraskeletal myxoid chondrosarcoma.</strong> Genes Chromosomes Cancer 35: 340-352, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12378528/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12378528</a>] [<a href="https://doi.org/10.1002/gcc.10127" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12378528">Panagopoulos et al. (2002)</a> found that 13 of 16 EMCs had chromosomal aberrations involving 9q22 and 22q11-q12, the sites of the NR4A3 and EWS genes, respectively, The most frequent EWS/NR4A3 fusion transcript, present in 10 tumors, involved fusion of EWS exon 12 with NR4A3 exon 3; the second most common, present in 2 cases, was fusion of EWS exon 13 with NR4A3 exon 3. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12378528" 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><strong><em>NR4A3/RBP56 Fusion Gene</em></strong></p><p>
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<a href="#7" class="mim-tip-reference" title="Panagopoulos, I., Mencinger, M., Dietrich, C. U., Bjerkehagan, B., Saeter, G., Mertens, F., Mandahl, N., Heim, S. <strong>Fusion of the RBP56 and CHN genes in extraskeletal myxoid chondrosarcomas with translocation t(9;17)(q22;q11).</strong> Oncogene 18: 7594-7598, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10602519/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10602519</a>] [<a href="https://doi.org/10.1038/sj.onc.1203155" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10602519">Panagopoulos et al. (1999)</a> demonstrated that RBP56 can combine with the NR4A3 gene to generate a chimeric RBP56/NR4A3 gene; the fusion gene was identified in a subset of extraskeletal myxoid chondrosarcomas with the translocation t(9;17)(q22;q11). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10602519" 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="#8" class="mim-tip-reference" title="Panagopoulos, I., Mertens, F., Isaksson, M., Domanski, H. A., Brosjo, O., Heim, S., Bjerkehagen, B., Sciot, R., Dal Cin, P., Fletcher, J. A., Fletcher, C. D. M., Mandahl, N. <strong>Molecular genetic characterization of the EWS/CHN and RBP56/CHN fusion genes in extraskeletal myxoid chondrosarcoma.</strong> Genes Chromosomes Cancer 35: 340-352, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12378528/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12378528</a>] [<a href="https://doi.org/10.1002/gcc.10127" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12378528">Panagopoulos et al. (2002)</a> found that 3 of 16 EMCs had chromosomal rearrangements involving 9q22 and 17q11, the sites of the NR4A3 and RBP56 genes, respectively. In all tumors with RBP56/NR4A3 fusion, exon 6 of RBP56 was fused to exon 3 of NR4A3. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12378528" 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><strong><em>NR4A3/TCF12 Fusion Gene</em></strong></p><p>
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By spectral karyotyping, <a href="#9" class="mim-tip-reference" title="Sjogren, H., Wedell, B., Meis-Kindblom, J. M., Kindblom, L.-G., Stenman, G. <strong>Fusion of the NH2-terminal domain of the basic helix-loop-helix protein TCF12 to TEC in extraskeletal myxoid chondrosarcoma with translocation t(9;15)(q22;q21).</strong> Cancer Res. 60: 6832-6835, 2000. Note: Erratum: Cancer Res. 61: 2339 only, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11156374/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11156374</a>]" pmid="11156374">Sjogren et al. (2000)</a> identified a reciprocal t(9;15)(q22;q21) translocation in cells obtained from a tumor with characteristics of EMC. The translocation produced a chimeric transcript encoding a protein in which the first 108 amino acids of the N terminus of TCF12 (<a href="/entry/600480">600480</a>) were fused in-frame upstream of the entire NR4A3 sequence. The N-terminal TCF12 sequence included in the fusion product contains potential phosphorylation and N-glycosylation sites. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11156374" 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><strong><em>NR4A3/TFG Fusion Gene</em></strong></p><p>
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<a href="#3" class="mim-tip-reference" title="Hisaoka, M., Ishida, T., Imamura, T., Hashimoto, H. <strong>TFG is a novel fusion partner of NOR1 in extraskeletal myxoid chondrosarcoma.</strong> Genes Chromosomes Cancer 40: 325-328, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15188455/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15188455</a>] [<a href="https://doi.org/10.1002/gcc.20044" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15188455">Hisaoka et al. (2004)</a> identified an NOR1/TFG fusion gene in an EMC derived from a Japanese patient. The fusion occurred between exon 6 of the TFG gene and exon 3 of the NOR1 gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15188455" 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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<strong>REFERENCES</strong>
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Gill, S., McManus, A. P., Crew, A. J., Benjamin, H., Sheer, D., Gusterson, B. A., Pinkerton, C. R., Patel, K., Cooper, C. S., Shipley, J. M.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7539287/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7539287</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7539287" 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.2870120412" target="_blank">Full Text</a>]
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Hinrichs, S. H., Jaramillo, M. A., Gumerlock, P. H., Gardner, M. B., Lewis, J. P., Freeman, A. E.
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<strong>Myxoid chondrosarcoma with a translocation involving chromosomes 9 and 22.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3967207/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3967207</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3967207" 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(85)90187-6" target="_blank">Full Text</a>]
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<a id="Hisaoka2004" class="mim-anchor"></a>
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Hisaoka, M., Ishida, T., Imamura, T., Hashimoto, H.
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<strong>TFG is a novel fusion partner of NOR1 in extraskeletal myxoid chondrosarcoma.</strong>
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Genes Chromosomes Cancer 40: 325-328, 2004.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15188455/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15188455</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15188455" 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.20044" target="_blank">Full Text</a>]
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Labelle, Y., Bussieres, J., Courjal, F., Goldring, M. B.
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<strong>The EWS/TEC fusion protein encoded by the t(9;22) chromosomal translocation in human chondrosarcomas is a highly potent transcriptional activator.</strong>
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Oncogene 18: 3303-3308, 1999.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10359536/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10359536</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10359536" 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/sj.onc.1202675" target="_blank">Full Text</a>]
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Labelle, Y., Zucman, J., Stenman, G., Kindblom, L.-G., Knight, J., Turc-Carel, C., Dockhorn-Dworniczak, B., Mandahl, N., Desmaze, C., Peter, M., Aurias, A., Delattre, O., Thomas, G.
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<strong>Oncogenic conversion of a novel orphan nuclear receptor by chromosome translocation.</strong>
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Hum. Molec. Genet. 4: 2219-2226, 1995.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8634690/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8634690</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8634690" 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/10.1093/hmg/4.12.2219" target="_blank">Full Text</a>]
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Orndal, C., Carlen, B., Akerman, M., Willen, H., Mandahl, N., Heim, S., Rydholm, A., Mitelman, F.
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<strong>Chromosomal abnormality t(9;22)(q22;q12) in an extraskeletal myxoid chondrosarcoma characterized by fine needle aspiration cytology, electron microscopy, immunohistochemistry and DNA flow cytometry.</strong>
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Cytopathology 2: 261-270, 1991.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1782363/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1782363</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1782363" 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/10.1111/j.1365-2303.1991.tb00497.x" target="_blank">Full Text</a>]
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<a id="Panagopoulos1999" class="mim-anchor"></a>
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Panagopoulos, I., Mencinger, M., Dietrich, C. U., Bjerkehagan, B., Saeter, G., Mertens, F., Mandahl, N., Heim, S.
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<strong>Fusion of the RBP56 and CHN genes in extraskeletal myxoid chondrosarcomas with translocation t(9;17)(q22;q11).</strong>
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Oncogene 18: 7594-7598, 1999.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10602519/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10602519</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10602519" 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/sj.onc.1203155" target="_blank">Full Text</a>]
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Panagopoulos, I., Mertens, F., Isaksson, M., Domanski, H. A., Brosjo, O., Heim, S., Bjerkehagen, B., Sciot, R., Dal Cin, P., Fletcher, J. A., Fletcher, C. D. M., Mandahl, N.
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<strong>Molecular genetic characterization of the EWS/CHN and RBP56/CHN fusion genes in extraskeletal myxoid chondrosarcoma.</strong>
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Genes Chromosomes Cancer 35: 340-352, 2002.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12378528/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12378528</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12378528" 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.10127" target="_blank">Full Text</a>]
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Sjogren, H., Wedell, B., Meis-Kindblom, J. M., Kindblom, L.-G., Stenman, G.
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<strong>Fusion of the NH2-terminal domain of the basic helix-loop-helix protein TCF12 to TEC in extraskeletal myxoid chondrosarcoma with translocation t(9;15)(q22;q21).</strong>
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Cancer Res. 60: 6832-6835, 2000. Note: Erratum: Cancer Res. 61: 2339 only, 2001.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11156374/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11156374</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11156374" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Stenman, G., Andersson, H., Mandahl, N., Meis-Kindblom, J. M., Kindblom, L.-G.
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<strong>Translocation t(9;22)(q22;q12) is a primary cytogenetic abnormality in extraskeletal myxoid chondrosarcoma.</strong>
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Int. J. Cancer 62: 398-402, 1995.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7635565/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7635565</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7635565" 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/ijc.2910620407" target="_blank">Full Text</a>]
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Turc-Carel, C., Dal Cin, P., Rao, U., Karakousis, C., Sandberg, A. A.
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<strong>Recurrent breakpoints at 9q31 and 22q12.2 in extraskeletal myxoid chondrosarcoma.</strong>
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Cancer Genet. Cytogenet. 30: 145-150, 1988.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3422040/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3422040</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3422040" 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)90103-3" target="_blank">Full Text</a>]
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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alopez : 08/07/2012
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carol : 8/20/2008<br>ckniffin : 8/14/2008
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<strong>#</strong> 612237
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CHONDROSARCOMA, EXTRASKELETAL MYXOID
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<em>Alternative titles; symbols</em>
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EMC
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<strong>SNOMEDCT:</strong> 404079008;
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<strong>ORPHA:</strong> 209916;
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<strong>DO:</strong> 4549;
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<strong>Phenotype-Gene Relationships</strong>
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Location
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Phenotype
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Phenotype <br /> MIM number
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Inheritance
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Phenotype <br /> mapping key
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Gene/Locus
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Gene/Locus <br /> MIM number
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9q31.1
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Chondrosarcoma, extraskeletal myxoid
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<span class="mim-font">
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612237
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<span class="mim-font">
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3
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CSMF
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600542
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17q12
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Chondrosarcoma, extraskeletal myxoid
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612237
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1
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TAF15
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601574
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<strong>TEXT</strong>
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<p>A number sign (#) is used with this entry because extraskeletal myxoid chondrosarcomas (EMCs) can be caused by somatic chromosomal translocations that result in fusion genes, most often between the NR4A3 (600542) and EWS (EWSR1; 133450) genes, but also between NR4A3 and several other genes, including RBP56 (TAF15; 601574), TCF12 (600480), and TFG (602498).</p>
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<strong>Description</strong>
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<p>Extraskeletal myxoid chondrosarcoma is a rare soft tissue neoplasm of chondroblastic origin. The tumors are most commonly found in middle-aged and elderly individuals, are more common among men, and are often detected as deep-seated lesions in the extremities. Despite their relatively low-grade malignancy, recurrence and metastasis may appear many years after the initial diagnosis. Histologic tissue section examination reveals a mixture of cellular and myxoid stromal components (Panagopoulos et al., 2002). </p>
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<strong>Clinical Features</strong>
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<p>Hisaoka et al. (2004) reported a 41-year-old Japanese man who had a local excision for EMC in his right sole at age 36 years, and amputation of the right foot because of local recurrence 2 years later. He developed metastases in the lung and popliteal fossa and died 6 years after surgery for the metastases. Histologically, the lesion was characterized by lobular configurations of short spindle or oval cells arranged in a lacelike fashion or in a loose fascicular pattern with an abundant myxoid matrix. Molecular genetics identified an NR4A3/TFG fusion gene. Hisaoka et al. (2004) used the symbol NOR1 for the NR4A3 gene. </p>
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<strong>Cytogenetics</strong>
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<p><strong><em>NR4A3/EWS Fusion Gene</em></strong></p><p>
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A recurrent t(9;22)(q22-31;q11-12) translocation was observed in EMCs by Hinrichs et al. (1985), Turc-Carel et al. (1988), Orndal et al. (1991), and Stenman et al. (1995). </p><p>In tissue derived from a skeletal myxoid chondrosarcoma that had a t(9;22)(q22-31;q11-12) translocation, Gill et al. (1995) demonstrated that the segment on chromosome 9 was fused to the N-terminal region of the EWS gene as a result of the reciprocal translocation. </p><p>Labelle et al. (1995) noted that in all known EWS fusion proteins, the RNA-recognition motif of EWS is replaced by the DNA-binding domain of the corresponding transcription factor. They demonstrated by fluorescence in situ hybridization that in 1 EMC tumor the chromosome 22 breakpoint occurred in the EWS gene. Northern blot analysis revealed an aberrant transcript that was cloned by a modified RT-PCR procedure. This transcript consisted of an in-frame fusion of the 5-prime end of EWS to the NR4A3 gene, which Labelle et al. (1995) called TEC and which has also been symbolized CSMF. This fusion transcript was detected in 6 of 8 EMCs studied, and 3 different junction types between the 2 genes were found. EWS linked to the entire NR4A3 protein. Homology analysis showed that the predicted NR4A3 protein contains a DNA-binding domain characteristic of nuclear receptors. The highest identity scores were observed with the NURR1 family of orphan nuclear receptors (NR4A2; 601828). (This situation is reminiscent of the FUS/CHOP fusion protein in which the entire CHOP (126337) protein is linked to the amino-terminal domain of FUS (137070) by an additional 26 amino acid sequence.) Labelle et al. (1995) stated that the EWS/NR4A3 gene fusion is the second example of the oncogenic conversion of a nuclear receptor in human tumorigenesis, the first being the PML/RARA gene fusion (see 180240; 102578) generated by the t(15;17) translocation in acute promyelocytic leukemia. </p><p>By cotransfection experiments of COS cells and human chondrocytes, Labelle et al. (1999) demonstrated that whereas NR4A3 moderately activates transcription from an NGFIB response element (NBRE)-containing promoter, a corresponding EWS/NR4A3 fusion protein, generated by the t(9;22) chromosomal translocation, is a highly potent transcriptional activator of the same promoter, being approximately 270-fold more active than the native receptor. EWS/NR4A3 may thus exert its oncogenic potential in chondrosarcomas by activating the transcription of target genes involved in cell proliferation. </p><p>Panagopoulos et al. (2002) found that 13 of 16 EMCs had chromosomal aberrations involving 9q22 and 22q11-q12, the sites of the NR4A3 and EWS genes, respectively, The most frequent EWS/NR4A3 fusion transcript, present in 10 tumors, involved fusion of EWS exon 12 with NR4A3 exon 3; the second most common, present in 2 cases, was fusion of EWS exon 13 with NR4A3 exon 3. </p><p><strong><em>NR4A3/RBP56 Fusion Gene</em></strong></p><p>
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Panagopoulos et al. (1999) demonstrated that RBP56 can combine with the NR4A3 gene to generate a chimeric RBP56/NR4A3 gene; the fusion gene was identified in a subset of extraskeletal myxoid chondrosarcomas with the translocation t(9;17)(q22;q11). </p><p>Panagopoulos et al. (2002) found that 3 of 16 EMCs had chromosomal rearrangements involving 9q22 and 17q11, the sites of the NR4A3 and RBP56 genes, respectively. In all tumors with RBP56/NR4A3 fusion, exon 6 of RBP56 was fused to exon 3 of NR4A3. </p><p><strong><em>NR4A3/TCF12 Fusion Gene</em></strong></p><p>
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By spectral karyotyping, Sjogren et al. (2000) identified a reciprocal t(9;15)(q22;q21) translocation in cells obtained from a tumor with characteristics of EMC. The translocation produced a chimeric transcript encoding a protein in which the first 108 amino acids of the N terminus of TCF12 (600480) were fused in-frame upstream of the entire NR4A3 sequence. The N-terminal TCF12 sequence included in the fusion product contains potential phosphorylation and N-glycosylation sites. </p><p><strong><em>NR4A3/TFG Fusion Gene</em></strong></p><p>
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Hisaoka et al. (2004) identified an NOR1/TFG fusion gene in an EMC derived from a Japanese patient. The fusion occurred between exon 6 of the TFG gene and exon 3 of the NOR1 gene. </p>
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<h4>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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</span>
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</h4>
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<div>
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<p />
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<ol>
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<p class="mim-text-font">
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Gill, S., McManus, A. P., Crew, A. J., Benjamin, H., Sheer, D., Gusterson, B. A., Pinkerton, C. R., Patel, K., Cooper, C. S., Shipley, J. M.
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<strong>Fusion of the EWS gene to a DNA segment from 9q22-31 in a human myxoid chondrosarcoma.</strong>
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Genes Chromosomes Cancer 12: 307-310, 1995.
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[PubMed: 7539287]
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[Full Text: https://doi.org/10.1002/gcc.2870120412]
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</p>
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</li>
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<p class="mim-text-font">
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Hinrichs, S. H., Jaramillo, M. A., Gumerlock, P. H., Gardner, M. B., Lewis, J. P., Freeman, A. E.
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<strong>Myxoid chondrosarcoma with a translocation involving chromosomes 9 and 22.</strong>
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Cancer Genet. Cytogenet. 14: 219-226, 1985.
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[PubMed: 3967207]
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[Full Text: https://doi.org/10.1016/0165-4608(85)90187-6]
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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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Hisaoka, M., Ishida, T., Imamura, T., Hashimoto, H.
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<strong>TFG is a novel fusion partner of NOR1 in extraskeletal myxoid chondrosarcoma.</strong>
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Genes Chromosomes Cancer 40: 325-328, 2004.
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[PubMed: 15188455]
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[Full Text: https://doi.org/10.1002/gcc.20044]
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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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Labelle, Y., Bussieres, J., Courjal, F., Goldring, M. B.
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<strong>The EWS/TEC fusion protein encoded by the t(9;22) chromosomal translocation in human chondrosarcomas is a highly potent transcriptional activator.</strong>
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Oncogene 18: 3303-3308, 1999.
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[PubMed: 10359536]
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[Full Text: https://doi.org/10.1038/sj.onc.1202675]
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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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Labelle, Y., Zucman, J., Stenman, G., Kindblom, L.-G., Knight, J., Turc-Carel, C., Dockhorn-Dworniczak, B., Mandahl, N., Desmaze, C., Peter, M., Aurias, A., Delattre, O., Thomas, G.
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<strong>Oncogenic conversion of a novel orphan nuclear receptor by chromosome translocation.</strong>
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Hum. Molec. Genet. 4: 2219-2226, 1995.
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[PubMed: 8634690]
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[Full Text: https://doi.org/10.1093/hmg/4.12.2219]
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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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Orndal, C., Carlen, B., Akerman, M., Willen, H., Mandahl, N., Heim, S., Rydholm, A., Mitelman, F.
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<strong>Chromosomal abnormality t(9;22)(q22;q12) in an extraskeletal myxoid chondrosarcoma characterized by fine needle aspiration cytology, electron microscopy, immunohistochemistry and DNA flow cytometry.</strong>
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Cytopathology 2: 261-270, 1991.
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[PubMed: 1782363]
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[Full Text: https://doi.org/10.1111/j.1365-2303.1991.tb00497.x]
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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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Panagopoulos, I., Mencinger, M., Dietrich, C. U., Bjerkehagan, B., Saeter, G., Mertens, F., Mandahl, N., Heim, S.
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<strong>Fusion of the RBP56 and CHN genes in extraskeletal myxoid chondrosarcomas with translocation t(9;17)(q22;q11).</strong>
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Oncogene 18: 7594-7598, 1999.
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[PubMed: 10602519]
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[Full Text: https://doi.org/10.1038/sj.onc.1203155]
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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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Panagopoulos, I., Mertens, F., Isaksson, M., Domanski, H. A., Brosjo, O., Heim, S., Bjerkehagen, B., Sciot, R., Dal Cin, P., Fletcher, J. A., Fletcher, C. D. M., Mandahl, N.
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<strong>Molecular genetic characterization of the EWS/CHN and RBP56/CHN fusion genes in extraskeletal myxoid chondrosarcoma.</strong>
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Genes Chromosomes Cancer 35: 340-352, 2002.
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[PubMed: 12378528]
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[Full Text: https://doi.org/10.1002/gcc.10127]
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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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Sjogren, H., Wedell, B., Meis-Kindblom, J. M., Kindblom, L.-G., Stenman, G.
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<strong>Fusion of the NH2-terminal domain of the basic helix-loop-helix protein TCF12 to TEC in extraskeletal myxoid chondrosarcoma with translocation t(9;15)(q22;q21).</strong>
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Cancer Res. 60: 6832-6835, 2000. Note: Erratum: Cancer Res. 61: 2339 only, 2001.
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[PubMed: 11156374]
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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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Stenman, G., Andersson, H., Mandahl, N., Meis-Kindblom, J. M., Kindblom, L.-G.
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<strong>Translocation t(9;22)(q22;q12) is a primary cytogenetic abnormality in extraskeletal myxoid chondrosarcoma.</strong>
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Int. J. Cancer 62: 398-402, 1995.
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[PubMed: 7635565]
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[Full Text: https://doi.org/10.1002/ijc.2910620407]
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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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Turc-Carel, C., Dal Cin, P., Rao, U., Karakousis, C., Sandberg, A. A.
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<strong>Recurrent breakpoints at 9q31 and 22q12.2 in extraskeletal myxoid chondrosarcoma.</strong>
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Cancer Genet. Cytogenet. 30: 145-150, 1988.
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[PubMed: 3422040]
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[Full Text: https://doi.org/10.1016/0165-4608(88)90103-3]
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alopez : 08/07/2012<br>carol : 8/20/2008<br>ckniffin : 8/14/2008
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