2966 lines
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Entry
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- #259500 - OSTEOGENIC SARCOMA
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- OMIM
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<p>
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<span class="h4">#259500</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<a href="#title"><strong>Title</strong></a>
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<li role="presentation">
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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</li>
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<li role="presentation">
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<a href="/clinicalSynopsis/259500"><strong>Clinical Synopsis</strong></a>
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<a href="#text"><strong>Text</strong></a>
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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="#mapping">Mapping</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#animalModel">Animal Model</a>
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<a href="#seeAlso"><strong>See Also</strong></a>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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<li role="presentation">
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<a href="#contributors"><strong>Contributors</strong></a>
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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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</ul>
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<div class="col-lg-2 col-lg-push-8 col-md-2 col-md-push-8 col-sm-2 col-sm-push-8 col-xs-12">
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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 class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
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<span class="panel-title">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class=" mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">▼</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div class="panel-body small mim-panel-body">
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<div><a href="https://clinicaltrials.gov/search?cond=OSTEOGENIC SARCOMA" class="mim-tip-hint" title="A registry of federally and privately supported clinical trials conducted in the United States and around the world." 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=3758&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/5489" 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=259500[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=668" 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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<a href="#mimAnimalModelsLinksFold" id="mimAnimalModelsLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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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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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimAnimalModelsLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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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:3347" 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/259500" 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://omia.org/OMIA001990/" class="mim-tip-hint" title="Online Mendelian Inheritance in Animals (OMIA) is a database of genes, inherited disorders and traits in 191 animal species (other than human and mouse.)" target="_blank">OMIA</a></div>
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<div><a href="https://wormbase.org/resources/disease/DOID:3347" 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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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimCellLines">
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<span class="panel-title">
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<span class="small">
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<a href="#mimCellLinesLinksFold" id="mimCellLinesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimCellLinesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cell Lines</div>
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</a>
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<div id="mimCellLinesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://catalog.coriell.org/Search?q=OmimNum:259500" class="definition" title="Coriell Cell Repositories; cell cultures and DNA derived from cell cultures." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'CCR', 'domain': 'ccr.coriell.org'})">Coriell</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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</span>
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</div>
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<div>
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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> 1163405004, 189878003<br />
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<strong>ORPHA:</strong> 668<br />
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<strong>DO:</strong> 3347<br />
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">ICD+</a>
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</div>
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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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259500
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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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|
OSTEOGENIC SARCOMA
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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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OSTEOSARCOMA; OSRC
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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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<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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<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/13/162?start=-3&limit=10&highlight=162">
|
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13q14.2
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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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Osteosarcoma, somatic
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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/259500"> 259500 </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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<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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RB1
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</span>
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<td>
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<span class="mim-font">
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<a href="/entry/614041"> 614041 </a>
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</span>
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<span class="mim-font">
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<a href="/geneMap/17/175?start=-3&limit=10&highlight=175">
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17p13.1
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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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{Osteosarcoma}
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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/259500"> 259500 </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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TP53
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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/191170"> 191170 </a>
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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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<a href="/geneMap/22/140?start=-3&limit=10&highlight=140">
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22q12.1
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</a>
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</td>
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<td>
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<span class="mim-font">
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Osteosarcoma, somatic
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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/259500"> 259500 </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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CHEK2
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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/604373"> 604373 </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/259500" 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/259500" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
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<li><a href="/graph/radial/259500" 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> HEAD & NECK </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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<div>
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<span class="h5 mim-font">
|
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<em> Eyes </em>
|
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</span>
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</div>
|
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<div style="margin-left: 2em;">
|
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<span class="mim-font">
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- Retinoblastoma (in some patients) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/19906005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">19906005</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/370967009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">370967009</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0035335&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0035335</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0009919" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0009919</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0009919" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0009919</a>]</span><br />
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|
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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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<div>
|
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<span class="h5 mim-font">
|
|
<strong> SKELETAL </strong>
|
|
</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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|
|
- Bone destruction and mineralized soft tissue mass <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5194199&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5194199</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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<span class="h5 mim-font">
|
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<em> Limbs </em>
|
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</span>
|
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</div>
|
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<div style="margin-left: 2em;">
|
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<span class="mim-font">
|
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|
|
- Painful tender mass at long bone metaphysis <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5194200&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5194200</a>]</span><br />
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|
|
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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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<div>
|
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<span class="h5 mim-font">
|
|
<strong> NEOPLASIA </strong>
|
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</span>
|
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</div>
|
|
<div style="margin-left: 2em;">
|
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<div>
|
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<span class="mim-font">
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- Osteogenic sarcoma <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/1163405004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">1163405004</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/189878003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">189878003</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0029463&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0029463</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002669" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002669</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002669" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002669</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">
|
|
<strong> MISCELLANEOUS </strong>
|
|
</span>
|
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</div>
|
|
<div style="margin-left: 2em;">
|
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|
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<div>
|
|
<span class="mim-font">
|
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|
|
- Increased incidence of osteosarcoma in retinoblastoma cases with RB1 (<a href="/entry/614041">614041</a>) mutations<br /> -
|
|
Peak frequency in adolescence<br />
|
|
|
|
</span>
|
|
</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>
|
|
</span>
|
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</div>
|
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<div style="margin-left: 2em;">
|
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|
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<div>
|
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<span class="mim-font">
|
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|
|
- Susceptibility conferred by mutation in the tumor protein 53 gene (TP53, <a href="/entry/191170#0013">191170.0013</a>)<br /> -
|
|
Susceptibility conferred by mutation in the homolog of the S. pombe checkpoint kinase 2 gene (CHEK2, <a href="/entry/604373#0005">604373.0005</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">
|
|
<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.">
|
|
<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 many instances of osteogenic sarcoma occur in association with retinoblastoma (RB; <a href="/entry/180200">180200</a>), which is caused by mutation in the RB1 gene (<a href="/entry/614041">614041</a>) on chromosome 13q14.</p><p>Osteosarcoma occurs frequently in Paget disease of bone, which can be caused by mutation in the TNFRSF11A gene on chromosome 18q22. Mutation in another gene on chromosome 18q may be mutated in cases of osteosarcoma. Osteosarcoma is a feature of Li-Fraumeni syndrome (LFS; <a href="/entry/151623">151623</a>), caused by mutation in the TP53 gene (<a href="/entry/191170">191170</a>). Sporadic osteosarcoma has also been associated with mutations in the CHEK2 gene (<a href="/entry/604373#0005">604373.0005</a>).</p><p>Osteosarcoma is a component of the acronymically designated OSLAM syndrome (<a href="/entry/165660">165660</a>).</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="clinicalFeatures" class="mim-anchor"></a>
|
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<h4 href="#mimClinicalFeaturesFold" id="mimClinicalFeaturesToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
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<span id="mimClinicalFeaturesToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
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<span class="mim-font">
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<strong>Clinical Features</strong>
|
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</span>
|
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</h4>
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</div>
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<div id="mimClinicalFeaturesFold" class="collapse in mimTextToggleFold">
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<span class="mim-text-font">
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<p><a href="#8" class="mim-tip-reference" title="Harmon, T. P., Morton, K. S. <strong>Osteogenic sarcoma in four siblings.</strong> J. Bone Joint Surg. Br. 48: 493-498, 1966.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5222601/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5222601</a>]" pmid="5222601">Harmon and Morton (1966)</a> reported osteogenic sarcoma in 4 sibs, with onset at 11, 15, 20, and 22 years. <a href="#4" class="mim-tip-reference" title="Epstein, L. I., Bixler, D., Bennett, J. E. <strong>An incident of familial cancer: including 3 cases of osteogenic sarcoma.</strong> Cancer 25: 889-891, 1970.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4315294/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4315294</a>] [<a href="https://doi.org/10.1002/1097-0142(197004)25:4<889::aid-cncr2820250421>3.0.co;2-l" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4315294">Epstein et al. (1970)</a> observed osteogenic sarcoma in a father and daughter. See chondrosarcoma (<a href="/entry/215300">215300</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=5222601+4315294" 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="#6" class="mim-tip-reference" title="Goorin, A. M., Abelson, H. T., Frei, E., III. <strong>Osteosarcoma: fifteen years later.</strong> New Eng. J. Med. 313: 1637-1643, 1985.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3906399/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3906399</a>] [<a href="https://doi.org/10.1056/NEJM198512263132605" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3906399">Goorin et al. (1985)</a> stated that 16 sets of sibs with osteosarcoma had been identified. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3906399" 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>The demonstration of evidence of immune response (lysis of radiolabeled tumor cells by donor lymphocytes) in household contacts of patients with osteosarcoma (<a href="#12" class="mim-tip-reference" title="Levin, A. S., Byers, V. X., Fudenberg, H. H., Wybran, J. <strong>Immunologic parameters for monitoring immunotherapy with tumor specific transfer factor. (Abstract)</strong> Clin. Res. 22: 570A only, 1974."None>Levin et al., 1974</a>) suggested that the familial aggregation may be due to a transmitted agent.</p>
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<p><a href="#5" class="mim-tip-reference" title="Gilman, P. A., Wang, N., Fan, S.-F., Reede, J., Khan, A., Leventhal, B. G. <strong>Familial osteosarcoma associated with 13;14 chromosomal rearrangement.</strong> Cancer Genet. Cytogenet. 17: 123-132, 1985.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3857964/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3857964</a>] [<a href="https://doi.org/10.1016/0165-4608(85)90022-6" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3857964">Gilman et al. (1985)</a> described osteosarcoma developing in 2 prepubertal American Indian sisters at age 8 and 12 years. Rearrangements involving chromosomes 13 and 14 were found in both the surviving sister and the mother. The mother had a typical Robertsonian translocation of 13 and 14. The daughter had a rearrangement of ambiguous nature. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3857964" 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="Dryja, T. P., Rapaport, J. M., Epstein, J., Goorin, A. M., Weichselbaum, R., Koufos, A., Cavenee, W. K. <strong>Chromosome 13 homozygosity in osteosarcoma without retinoblastoma.</strong> Am. J. Hum. Genet. 38: 59-66, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3004203/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3004203</a>]" pmid="3004203">Dryja et al. (1986)</a> provided evidence that some human osteosarcomas arise subsequent to the development of homozygosity at loci on the long arm of chromosome 13. They proposed that this is the same locus as the retinoblastoma locus. In all 11 cases of osteosarcoma, <a href="#15" class="mim-tip-reference" title="Scheffer, H., Kruize, Y. C. M., Osinga, J., Kuiken, G., Oosterhuis, J. W., Leeuw, J. A., Schraffordt Koops, H., Buys, C. H. C. M. <strong>Complete association of loss of heterozygosity of chromosomes 13 and 17 in osteosarcoma.</strong> Cancer Genet. Cytogenet. 53: 45-55, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2036639/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2036639</a>] [<a href="https://doi.org/10.1016/0165-4608(91)90113-9" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2036639">Scheffer et al. (1991)</a> found loss of heterozygosity of both chromosomes 13 and 17. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=2036639+3004203" 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>Association with Retinoblastoma</em></strong></p><p>
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Survivors of the bilateral form of retinoblastoma (RB; <a href="/entry/180200">180200</a>) have an increased risk of osteosarcoma. Survivors of unilateral retinoblastoma show the same likelihood of developing osteosarcoma as the general population. It is plausible to think that much of sporadic osteosarcoma is due to homozygosity (or hemizygosity) for a mutation at the RB1 locus on chromosome 13 (<a href="#3" class="mim-tip-reference" title="Dryja, T. P., Rapaport, J. M., Epstein, J., Goorin, A. M., Weichselbaum, R., Koufos, A., Cavenee, W. K. <strong>Chromosome 13 homozygosity in osteosarcoma without retinoblastoma.</strong> Am. J. Hum. Genet. 38: 59-66, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3004203/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3004203</a>]" pmid="3004203">Dryja et al., 1986</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3004203" 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="#1" class="mim-tip-reference" title="Chauveinc, L., Mosseri, V., Quintana, E., Desjardins, L., Schlienger, P., Doz, F., Dutrillaux, B. <strong>Osteosarcoma following retinoblastoma: age at onset and latency period.</strong> Ophthalmic Genet. 22: 77-88, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11449317/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11449317</a>] [<a href="https://doi.org/10.1076/opge.22.2.77.2228" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11449317">Chauveinc et al. (2001)</a> reviewed retinoblastoma survivors who subsequently developed osteosarcoma. They found that osteosarcomas occurred 1.2 years earlier inside than outside the radiation field in patients who had undergone external beam irradiation. Also, the latency between radiotherapy and osteosarcoma was 1.3 years shorter inside than outside the radiation field. Bimodal distribution of latency periods was observed for osteosarcomas arising inside but not outside the radiation field: 40% occurred after a short latency, while the latency for the remaining 60% was comparable to that of osteosarcoma arising outside the radiation field. The authors suggested that different mechanisms may be involved in the radiocarcinogenesis. They hypothesized that a radiation-induced mutation of the second RB1 allele may be the cause of osteosarcomas occurring after a short delay, while other genes may be responsible for osteosarcomas occurring after a longer delay. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11449317" 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>Association with Paget Disease of Bone</em></strong></p><p>
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Paget disease of bone (PDB; see <a href="/entry/167250">167250</a>), or 'osteitis deformans,' is a bone disorder characterized by rapid bone remodeling resulting in abnormal bone formation. Approximately 1% of Paget patients develop osteosarcoma, which represents an increase in risk that is several thousand-fold over that of the general population. Osteosarcoma in Paget disease patients is the underlying basis for a substantial fraction of osteosarcomas occurring after age 60 years. <a href="#13" class="mim-tip-reference" title="Nellissery, M. J., Padalecki, S. S., Brkanac, Z., Singer, F. R., Roodman, G. D., Unni, K. K., Leach, R. J., Hansen, M. F. <strong>Evidence for a novel osteosarcoma tumor-suppressor gene in the chromosome 18 region genetically linked with Paget disease of bone.</strong> Am. J. Hum. Genet. 63: 817-824, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9718349/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9718349</a>] [<a href="https://doi.org/10.1086/302019" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9718349">Nellissery et al. (1998)</a> identified, by analysis of tumor-specific loss of constitutional heterozygosity (LOH) in 96 sporadic osteosarcomas, a putative osteosarcoma tumor-suppressor locus that mapped to 18q. They localized this tumor-suppressor locus between D18S60 and D18S42, a region tightly linked to familial Paget disease. Analysis of osteosarcomas from patients with Paget disease showed that these tumors also undergo LOH in this region. The findings suggested that the association between Paget disease and osteosarcoma is the result of a single gene or 2 tightly linked genes on chromosome 18. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9718349" 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="#14" class="mim-tip-reference" title="Sadikovic, B., Yoshimoto, M., Chilton-MacNeill, S., Thorner, P., Squire, J. A., Zielenska, M. <strong>Identification of interactive networks of gene expression associated with osteosarcoma oncogenesis by integrated molecular profiling.</strong> Hum. Molec. Genet. 18: 1962-1975, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19286668/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19286668</a>] [<a href="https://doi.org/10.1093/hmg/ddp117" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19286668">Sadikovic et al. (2009)</a> performed integrative whole-genome analysis of DNA copy number, promoter methylation, and gene expression using 10 pediatric osteosarcoma tissue samples. Hypomethylation, copy number gain, and overexpression were identified for the histone cluster 2 genes (see <a href="/entry/142750">142750</a>) on chromosome 1q21.1-q21.3. They also found loss of chromosome 8p21.3-p21.2 and underexpression of DOCK5 (<a href="/entry/616904">616904</a>), TNFRSF10A (<a href="/entry/603611">603611</a>), and TNFRSF10D (<a href="/entry/603614">603614</a>) genes, as well as copy number gain of chromosome 6p21.1-p12.3 and amplification-related overexpression of RUNX2 (<a href="/entry/600211">600211</a>). Amplification and overexpression of RUNX2 could disrupt G2/M cell cycle checkpoints, and downstream osteosarcoma-specific changes, such as failure of bone differentiation and genomic polyploidization. Failure of DOCK5 signaling, together with p53 (<a href="/entry/191170">191170</a>) and TNFRSF10A/D-related cell cycle and death pathways, may play a critical role in abrogating apoptosis. <a href="#14" class="mim-tip-reference" title="Sadikovic, B., Yoshimoto, M., Chilton-MacNeill, S., Thorner, P., Squire, J. A., Zielenska, M. <strong>Identification of interactive networks of gene expression associated with osteosarcoma oncogenesis by integrated molecular profiling.</strong> Hum. Molec. Genet. 18: 1962-1975, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19286668/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19286668</a>] [<a href="https://doi.org/10.1093/hmg/ddp117" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19286668">Sadikovic et al. (2009)</a> hypothesized that the RUNX2 interactome may be constitutively activated in osteosarcoma, and that the downstream intracellular pathways may be associated with the regulation of osteoblast differentiation and control of cell cycle and apoptosis in osteosarcoma. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19286668" 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="Khanna, C., Prehn, J., Yeung, C., Caylor, J., Tsokos, M., Helman, L. <strong>An orthotopic model of murine osteosarcoma with clonally related variants differing in pulmonary metastatic potential.</strong> Clin. Exp. Metastasis 18: 261-271, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11315100/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11315100</a>] [<a href="https://doi.org/10.1023/a:1006767007547" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11315100">Khanna et al. (2000)</a> developed a murine model of osteosarcoma characterized by tumor growth at appendicular sites, a period of minimal residual disease, spontaneous pulmonary metastasis, and model variants that differ in metastatic potential. The model was developed from a cell line, K12, originating from a spontaneous BALB/c osteogenic sarcoma, and a clonally related cell line, K7M2. Within the model, the K7M2 cell line is aggressive and highly metastatic, whereas the K12 cell line is less aggressive with infrequent pulmonary metastases. <a href="#9" class="mim-tip-reference" title="Khanna, C., Khan, J., Nguyen, P., Prehn, J., Caylor, J., Yeung, C., Trepel, J., Meltzer, P., Helman, L. <strong>Metastasis-associated differences in gene expression in a murine model of osteosarcoma.</strong> Cancer Res. 61: 3750-3759, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11325848/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11325848</a>]" pmid="11325848">Khanna et al. (2001)</a> used cDNA microarray expression profiling to compare gene expression between these cell lines. They showed that ezrin (<a href="/entry/123900">123900</a>) had a 3-fold overexpression in the K7M2 versus the K12 cell line. The relevance of ezrin in human osteosarcoma was supported by Northern blot analysis that demonstrated its expression in 5 of 5 human osteosarcoma cell lines. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=11315100+11325848" 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 imaging metastatic osteosarcoma cells in the lungs of mice, <a href="#11" class="mim-tip-reference" title="Khanna, C., Wan, X., Bose, S., Cassaday, R., Olomu, O., Mendoza, A., Yeung, C., Gorlick, R., Hewitt, S. M., Helman, L. J. <strong>The membrane-cytoskeleton linker ezrin is necessary for osteosarcoma metastasis.</strong> Nature Med. 10: 182-186, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14704791/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14704791</a>] [<a href="https://doi.org/10.1038/nm982" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14704791">Khanna et al. (2004)</a> demonstrated that ezrin expression provides an early survival advantage for cancer cells that reach the lung. AKT (<a href="/entry/164730">164730</a>) and MAPK3 (<a href="/entry/601795">601795</a>) phosphorylation and activity were reduced when ezrin was suppressed. Ezrin-mediated early metastatic survival was partially dependent on the activation of MAPK but not AKT. To define the relevance of ezrin in the biology of metastasis beyond the founding mouse model, <a href="#11" class="mim-tip-reference" title="Khanna, C., Wan, X., Bose, S., Cassaday, R., Olomu, O., Mendoza, A., Yeung, C., Gorlick, R., Hewitt, S. M., Helman, L. J. <strong>The membrane-cytoskeleton linker ezrin is necessary for osteosarcoma metastasis.</strong> Nature Med. 10: 182-186, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14704791/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14704791</a>] [<a href="https://doi.org/10.1038/nm982" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14704791">Khanna et al. (2004)</a> examined ezrin expression in dogs that naturally developed osteosarcoma. High ezrin expression in dog tumors was associated with early development of metastases. Consistent with these data, <a href="#11" class="mim-tip-reference" title="Khanna, C., Wan, X., Bose, S., Cassaday, R., Olomu, O., Mendoza, A., Yeung, C., Gorlick, R., Hewitt, S. M., Helman, L. J. <strong>The membrane-cytoskeleton linker ezrin is necessary for osteosarcoma metastasis.</strong> Nature Med. 10: 182-186, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14704791/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14704791</a>] [<a href="https://doi.org/10.1038/nm982" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14704791">Khanna et al. (2004)</a> found a significant association between high ezrin expression and poor outcome in pediatric osteosarcoma patients. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14704791" 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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<a href="#Colyer1979" class="mim-tip-reference" title="Colyer, R. A. <strong>Osteogenic sarcoma in siblings.</strong> Johns Hopkins Med. J. 145: 131-135, 1979.">Colyer (1979)</a>; <a href="#Hansen1985" class="mim-tip-reference" title="Hansen, M. F., Koufos, A., Gallie, B. L., Phillips, R. A., Fodstad, O., Brogger, A., Gedde-Dahl, T., Cavenee, W. K. <strong>Osteosarcoma and retinoblastoma: a shared chromosomal mechanism revealing recessive predisposition.</strong> Proc. Nat. Acad. Sci. 82: 6216-6220, 1985.">Hansen et al. (1985)</a>
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<strong>REFERENCES</strong>
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<a id="Chauveinc2001" class="mim-anchor"></a>
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Chauveinc, L., Mosseri, V., Quintana, E., Desjardins, L., Schlienger, P., Doz, F., Dutrillaux, B.
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<strong>Osteosarcoma following retinoblastoma: age at onset and latency period.</strong>
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Ophthalmic Genet. 22: 77-88, 2001.
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[<a href="https://doi.org/10.1076/opge.22.2.77.2228" target="_blank">Full Text</a>]
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<a id="Colyer1979" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Colyer, R. A.
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<strong>Osteogenic sarcoma in siblings.</strong>
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Johns Hopkins Med. J. 145: 131-135, 1979.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/288942/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">288942</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=288942" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<a id="Dryja1986" class="mim-anchor"></a>
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Dryja, T. P., Rapaport, J. M., Epstein, J., Goorin, A. M., Weichselbaum, R., Koufos, A., Cavenee, W. K.
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<strong>Chromosome 13 homozygosity in osteosarcoma without retinoblastoma.</strong>
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Am. J. Hum. Genet. 38: 59-66, 1986.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3004203/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3004203</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3004203" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<a id="Epstein1970" class="mim-anchor"></a>
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<p class="mim-text-font">
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Epstein, L. I., Bixler, D., Bennett, J. E.
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<strong>An incident of familial cancer: including 3 cases of osteogenic sarcoma.</strong>
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Cancer 25: 889-891, 1970.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4315294/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4315294</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4315294" 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/10.1002/1097-0142(197004)25:4<889::aid-cncr2820250421>3.0.co;2-l" target="_blank">Full Text</a>]
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<a id="Gilman1985" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Gilman, P. A., Wang, N., Fan, S.-F., Reede, J., Khan, A., Leventhal, B. G.
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<strong>Familial osteosarcoma associated with 13;14 chromosomal rearrangement.</strong>
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Cancer Genet. Cytogenet. 17: 123-132, 1985.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3857964/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3857964</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3857964" 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)90022-6" target="_blank">Full Text</a>]
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<a id="Goorin1985" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Goorin, A. M., Abelson, H. T., Frei, E., III.
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<strong>Osteosarcoma: fifteen years later.</strong>
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New Eng. J. Med. 313: 1637-1643, 1985.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3906399/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3906399</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3906399" 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/10.1056/NEJM198512263132605" target="_blank">Full Text</a>]
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<a id="7" class="mim-anchor"></a>
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<a id="Hansen1985" class="mim-anchor"></a>
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Hansen, M. F., Koufos, A., Gallie, B. L., Phillips, R. A., Fodstad, O., Brogger, A., Gedde-Dahl, T., Cavenee, W. K.
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<strong>Osteosarcoma and retinoblastoma: a shared chromosomal mechanism revealing recessive predisposition.</strong>
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Proc. Nat. Acad. Sci. 82: 6216-6220, 1985.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2994066/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2994066</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2994066" 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.82.18.6216" target="_blank">Full Text</a>]
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<a id="Harmon1966" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Harmon, T. P., Morton, K. S.
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<strong>Osteogenic sarcoma in four siblings.</strong>
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J. Bone Joint Surg. Br. 48: 493-498, 1966.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5222601/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5222601</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5222601" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<a id="Khanna2001" class="mim-anchor"></a>
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Khanna, C., Khan, J., Nguyen, P., Prehn, J., Caylor, J., Yeung, C., Trepel, J., Meltzer, P., Helman, L.
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<strong>Metastasis-associated differences in gene expression in a murine model of osteosarcoma.</strong>
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Cancer Res. 61: 3750-3759, 2001.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11325848/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11325848</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11325848" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<a id="Khanna2000" class="mim-anchor"></a>
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Khanna, C., Prehn, J., Yeung, C., Caylor, J., Tsokos, M., Helman, L.
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<strong>An orthotopic model of murine osteosarcoma with clonally related variants differing in pulmonary metastatic potential.</strong>
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Clin. Exp. Metastasis 18: 261-271, 2000.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11315100/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11315100</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11315100" 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/10.1023/a:1006767007547" target="_blank">Full Text</a>]
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<a id="Khanna2004" class="mim-anchor"></a>
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Khanna, C., Wan, X., Bose, S., Cassaday, R., Olomu, O., Mendoza, A., Yeung, C., Gorlick, R., Hewitt, S. M., Helman, L. J.
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Nature Med. 10: 182-186, 2004.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14704791/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14704791</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14704791" 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/nm982" target="_blank">Full Text</a>]
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<a id="Levin1974" class="mim-anchor"></a>
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Levin, A. S., Byers, V. X., Fudenberg, H. H., Wybran, J.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9718349/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9718349</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9718349" 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/10.1086/302019" target="_blank">Full Text</a>]
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Sadikovic, B., Yoshimoto, M., Chilton-MacNeill, S., Thorner, P., Squire, J. A., Zielenska, M.
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<strong>Identification of interactive networks of gene expression associated with osteosarcoma oncogenesis by integrated molecular profiling.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19286668/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19286668</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19286668" 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/ddp117" target="_blank">Full Text</a>]
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Scheffer, H., Kruize, Y. C. M., Osinga, J., Kuiken, G., Oosterhuis, J. W., Leeuw, J. A., Schraffordt Koops, H., Buys, C. H. C. M.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2036639/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2036639</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2036639" 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(91)90113-9" target="_blank">Full Text</a>]
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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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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George E. Tiller - updated : 2/23/2010
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<div class="row collapse" id="mimCollapseContributors">
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<span class="mim-text-font">
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Ada Hamosh - updated : 1/30/2004<br>Victor A. McKusick - updated : 2/15/2002<br>Jane Kelly - updated : 10/29/2001<br>Victor A. McKusick - updated : 9/16/1998
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Creation Date:
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<span class="mim-text-font">
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Victor A. McKusick : 6/4/1986
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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carol : 10/05/2023
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carol : 04/14/2016<br>mgross : 4/13/2016<br>carol : 6/30/2015<br>carol : 9/16/2013<br>mgross : 2/8/2013<br>ckniffin : 12/10/2012<br>carol : 6/17/2011<br>terry : 1/13/2011<br>wwang : 3/1/2010<br>terry : 2/23/2010<br>wwang : 10/20/2009<br>terry : 10/15/2009<br>terry : 12/21/2005<br>mgross : 3/17/2005<br>alopez : 2/17/2004<br>alopez : 1/30/2004<br>alopez : 1/30/2004<br>alopez : 1/30/2004<br>alopez : 1/30/2004<br>cwells : 3/6/2002<br>cwells : 2/22/2002<br>terry : 2/15/2002<br>cwells : 11/2/2001<br>cwells : 10/29/2001<br>carol : 9/13/2001<br>alopez : 9/18/1998<br>terry : 9/16/1998<br>mimadm : 3/11/1994<br>carol : 4/28/1992<br>supermim : 3/17/1992<br>carol : 2/7/1992<br>carol : 9/11/1991<br>supermim : 3/20/1990
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<span class="mim-font">
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<strong>#</strong> 259500
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<h3>
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OSTEOGENIC SARCOMA
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<em>Alternative titles; symbols</em>
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OSTEOSARCOMA; OSRC
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<span class="mim-text-font">
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<strong>SNOMEDCT:</strong> 1163405004, 189878003;
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<strong>ORPHA:</strong> 668;
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<strong>DO:</strong> 3347;
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<strong>Phenotype-Gene Relationships</strong>
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<table class="table table-bordered table-condensed small mim-table-padding">
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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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13q14.2
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Osteosarcoma, somatic
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<span class="mim-font">
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259500
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3
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RB1
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614041
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17p13.1
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{Osteosarcoma}
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259500
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Somatic mutation
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<span class="mim-font">
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3
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TP53
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<span class="mim-font">
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191170
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22q12.1
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Osteosarcoma, somatic
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259500
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3
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CHEK2
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604373
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<span class="mim-font">
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<strong>TEXT</strong>
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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 many instances of osteogenic sarcoma occur in association with retinoblastoma (RB; 180200), which is caused by mutation in the RB1 gene (614041) on chromosome 13q14.</p><p>Osteosarcoma occurs frequently in Paget disease of bone, which can be caused by mutation in the TNFRSF11A gene on chromosome 18q22. Mutation in another gene on chromosome 18q may be mutated in cases of osteosarcoma. Osteosarcoma is a feature of Li-Fraumeni syndrome (LFS; 151623), caused by mutation in the TP53 gene (191170). Sporadic osteosarcoma has also been associated with mutations in the CHEK2 gene (604373.0005).</p><p>Osteosarcoma is a component of the acronymically designated OSLAM syndrome (165660).</p>
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<h4>
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<strong>Clinical Features</strong>
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</div>
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<span class="mim-text-font">
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<p>Harmon and Morton (1966) reported osteogenic sarcoma in 4 sibs, with onset at 11, 15, 20, and 22 years. Epstein et al. (1970) observed osteogenic sarcoma in a father and daughter. See chondrosarcoma (215300). </p><p>Goorin et al. (1985) stated that 16 sets of sibs with osteosarcoma had been identified. </p><p>The demonstration of evidence of immune response (lysis of radiolabeled tumor cells by donor lymphocytes) in household contacts of patients with osteosarcoma (Levin et al., 1974) suggested that the familial aggregation may be due to a transmitted agent.</p>
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<h4>
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<span class="mim-font">
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<strong>Cytogenetics</strong>
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<p>Gilman et al. (1985) described osteosarcoma developing in 2 prepubertal American Indian sisters at age 8 and 12 years. Rearrangements involving chromosomes 13 and 14 were found in both the surviving sister and the mother. The mother had a typical Robertsonian translocation of 13 and 14. The daughter had a rearrangement of ambiguous nature. </p>
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<h4>
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<span class="mim-font">
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<strong>Mapping</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>Dryja et al. (1986) provided evidence that some human osteosarcomas arise subsequent to the development of homozygosity at loci on the long arm of chromosome 13. They proposed that this is the same locus as the retinoblastoma locus. In all 11 cases of osteosarcoma, Scheffer et al. (1991) found loss of heterozygosity of both chromosomes 13 and 17. </p><p><strong><em>Association with Retinoblastoma</em></strong></p><p>
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Survivors of the bilateral form of retinoblastoma (RB; 180200) have an increased risk of osteosarcoma. Survivors of unilateral retinoblastoma show the same likelihood of developing osteosarcoma as the general population. It is plausible to think that much of sporadic osteosarcoma is due to homozygosity (or hemizygosity) for a mutation at the RB1 locus on chromosome 13 (Dryja et al., 1986). </p><p>Chauveinc et al. (2001) reviewed retinoblastoma survivors who subsequently developed osteosarcoma. They found that osteosarcomas occurred 1.2 years earlier inside than outside the radiation field in patients who had undergone external beam irradiation. Also, the latency between radiotherapy and osteosarcoma was 1.3 years shorter inside than outside the radiation field. Bimodal distribution of latency periods was observed for osteosarcomas arising inside but not outside the radiation field: 40% occurred after a short latency, while the latency for the remaining 60% was comparable to that of osteosarcoma arising outside the radiation field. The authors suggested that different mechanisms may be involved in the radiocarcinogenesis. They hypothesized that a radiation-induced mutation of the second RB1 allele may be the cause of osteosarcomas occurring after a short delay, while other genes may be responsible for osteosarcomas occurring after a longer delay. </p><p><strong><em>Association with Paget Disease of Bone</em></strong></p><p>
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Paget disease of bone (PDB; see 167250), or 'osteitis deformans,' is a bone disorder characterized by rapid bone remodeling resulting in abnormal bone formation. Approximately 1% of Paget patients develop osteosarcoma, which represents an increase in risk that is several thousand-fold over that of the general population. Osteosarcoma in Paget disease patients is the underlying basis for a substantial fraction of osteosarcomas occurring after age 60 years. Nellissery et al. (1998) identified, by analysis of tumor-specific loss of constitutional heterozygosity (LOH) in 96 sporadic osteosarcomas, a putative osteosarcoma tumor-suppressor locus that mapped to 18q. They localized this tumor-suppressor locus between D18S60 and D18S42, a region tightly linked to familial Paget disease. Analysis of osteosarcomas from patients with Paget disease showed that these tumors also undergo LOH in this region. The findings suggested that the association between Paget disease and osteosarcoma is the result of a single gene or 2 tightly linked genes on chromosome 18. </p>
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</span>
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<div>
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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>Molecular Genetics</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>Sadikovic et al. (2009) performed integrative whole-genome analysis of DNA copy number, promoter methylation, and gene expression using 10 pediatric osteosarcoma tissue samples. Hypomethylation, copy number gain, and overexpression were identified for the histone cluster 2 genes (see 142750) on chromosome 1q21.1-q21.3. They also found loss of chromosome 8p21.3-p21.2 and underexpression of DOCK5 (616904), TNFRSF10A (603611), and TNFRSF10D (603614) genes, as well as copy number gain of chromosome 6p21.1-p12.3 and amplification-related overexpression of RUNX2 (600211). Amplification and overexpression of RUNX2 could disrupt G2/M cell cycle checkpoints, and downstream osteosarcoma-specific changes, such as failure of bone differentiation and genomic polyploidization. Failure of DOCK5 signaling, together with p53 (191170) and TNFRSF10A/D-related cell cycle and death pathways, may play a critical role in abrogating apoptosis. Sadikovic et al. (2009) hypothesized that the RUNX2 interactome may be constitutively activated in osteosarcoma, and that the downstream intracellular pathways may be associated with the regulation of osteoblast differentiation and control of cell cycle and apoptosis in osteosarcoma. </p>
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</span>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Animal Model</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>Khanna et al. (2000) developed a murine model of osteosarcoma characterized by tumor growth at appendicular sites, a period of minimal residual disease, spontaneous pulmonary metastasis, and model variants that differ in metastatic potential. The model was developed from a cell line, K12, originating from a spontaneous BALB/c osteogenic sarcoma, and a clonally related cell line, K7M2. Within the model, the K7M2 cell line is aggressive and highly metastatic, whereas the K12 cell line is less aggressive with infrequent pulmonary metastases. Khanna et al. (2001) used cDNA microarray expression profiling to compare gene expression between these cell lines. They showed that ezrin (123900) had a 3-fold overexpression in the K7M2 versus the K12 cell line. The relevance of ezrin in human osteosarcoma was supported by Northern blot analysis that demonstrated its expression in 5 of 5 human osteosarcoma cell lines. </p><p>By imaging metastatic osteosarcoma cells in the lungs of mice, Khanna et al. (2004) demonstrated that ezrin expression provides an early survival advantage for cancer cells that reach the lung. AKT (164730) and MAPK3 (601795) phosphorylation and activity were reduced when ezrin was suppressed. Ezrin-mediated early metastatic survival was partially dependent on the activation of MAPK but not AKT. To define the relevance of ezrin in the biology of metastasis beyond the founding mouse model, Khanna et al. (2004) examined ezrin expression in dogs that naturally developed osteosarcoma. High ezrin expression in dog tumors was associated with early development of metastases. Consistent with these data, Khanna et al. (2004) found a significant association between high ezrin expression and poor outcome in pediatric osteosarcoma patients. </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>See Also:</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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Colyer (1979); Hansen et al. (1985)
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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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<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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</div>
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<div>
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<ol>
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<li>
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<p class="mim-text-font">
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Chauveinc, L., Mosseri, V., Quintana, E., Desjardins, L., Schlienger, P., Doz, F., Dutrillaux, B.
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<strong>Osteosarcoma following retinoblastoma: age at onset and latency period.</strong>
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Ophthalmic Genet. 22: 77-88, 2001.
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[PubMed: 11449317]
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[Full Text: https://doi.org/10.1076/opge.22.2.77.2228]
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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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Colyer, R. A.
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<strong>Osteogenic sarcoma in siblings.</strong>
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Johns Hopkins Med. J. 145: 131-135, 1979.
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[PubMed: 288942]
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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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Dryja, T. P., Rapaport, J. M., Epstein, J., Goorin, A. M., Weichselbaum, R., Koufos, A., Cavenee, W. K.
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<strong>Chromosome 13 homozygosity in osteosarcoma without retinoblastoma.</strong>
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Am. J. Hum. Genet. 38: 59-66, 1986.
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[PubMed: 3004203]
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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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Epstein, L. I., Bixler, D., Bennett, J. E.
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<strong>An incident of familial cancer: including 3 cases of osteogenic sarcoma.</strong>
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Cancer 25: 889-891, 1970.
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[PubMed: 4315294]
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[Full Text: https://doi.org/10.1002/1097-0142(197004)25:4<889::aid-cncr2820250421>3.0.co;2-l]
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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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Gilman, P. A., Wang, N., Fan, S.-F., Reede, J., Khan, A., Leventhal, B. G.
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<strong>Familial osteosarcoma associated with 13;14 chromosomal rearrangement.</strong>
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Cancer Genet. Cytogenet. 17: 123-132, 1985.
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[PubMed: 3857964]
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[Full Text: https://doi.org/10.1016/0165-4608(85)90022-6]
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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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Goorin, A. M., Abelson, H. T., Frei, E., III.
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<strong>Osteosarcoma: fifteen years later.</strong>
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