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Entry
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- #202300 - ADRENOCORTICAL CARCINOMA, HEREDITARY; ADCC
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- OMIM
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<p>
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<span class="h4">#202300</span>
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<br />
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<strong>Table of Contents</strong>
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<a href="#title"><strong>Title</strong></a>
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<a href="/clinicalSynopsis/202300"><strong>Clinical Synopsis</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<a href="#description">Description</a>
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<a href="#inheritance">Inheritance</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="#references"><strong>References</strong></a>
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<a href="#contributors"><strong>Contributors</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<a href="#editHistory"><strong>Edit History</strong></a>
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<div style="display: table-cell;">External Links</div>
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</a>
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</h4>
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<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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</a>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse in mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://clinicaltrials.gov/search?cond=ADRENOCORTICAL CARCINOMA, HEREDITARY" 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=3731&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/7638" 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=202300[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=1501" 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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<div class="panel-heading mim-panel-heading" role="tab" id="mimAnimalModels">
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<span class="panel-title">
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<span class="small">
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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://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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<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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</span>
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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>ORPHA:</strong> 1501<br />
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<strong>DO:</strong> 3948<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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202300
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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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ADRENOCORTICAL CARCINOMA, HEREDITARY; ADCC
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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="includedTitles" 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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Other entities represented in this entry:
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</span>
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</p>
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</div>
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<div>
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<span class="h3 mim-font">
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ADRENOCORTICAL CARCINOMA, PEDIATRIC, INCLUDED
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</span>
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<a id="phenotypeMap" class="mim-anchor"></a>
|
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<h4>
|
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<span class="mim-font">
|
|
<strong>Phenotype-Gene Relationships</strong>
|
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</span>
|
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</h4>
|
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<div>
|
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
|
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Phenotype <br /> MIM number
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</th>
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<th>
|
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Inheritance
|
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</th>
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<th>
|
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Phenotype <br /> mapping key
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</th>
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<th>
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Gene/Locus
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</th>
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<th>
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Gene/Locus <br /> MIM number
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</th>
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</thead>
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<tbody>
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<tr>
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<td>
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<span class="mim-font">
|
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<a href="/geneMap/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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{Adrenocortical carcinoma, pediatric}
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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/202300"> 202300 </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="Autosomal dominant">AD</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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</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/202300" 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 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/202300" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
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<li><a href="/graph/radial/202300" 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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<strong> INHERITANCE </strong>
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- Autosomal dominant <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/263681008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">263681008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/771269000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">771269000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0443147&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0443147</a>, <a href="https://bioportal.bioontology.org/search?q=C1867440&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1867440</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span><br />
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<strong> ENDOCRINE FEATURES </strong>
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- Virilism <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/15160007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">15160007</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0042755&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0042755</a>]</span><br />
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<strong> NEOPLASIA </strong>
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- Adrenocortical carcinoma <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/255035007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">255035007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/2227007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">2227007</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0206686&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0206686</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0006744" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0006744</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0006744" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0006744</a>]</span><br />
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<strong> MOLECULAR BASIS </strong>
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- Caused by mutation in the tumor protein p53 gene (TP53, <a href="/entry/191170#0040">191170.0040</a>)<br />
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<a href="#mimClinicalSynopsisFold" data-toggle="collapse">▲ Close</a>
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<span class="mim-font">
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
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<strong>TEXT</strong>
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<p>A number sign (#) is used with this entry because of evidence that one form of adrenocortical carcinoma is caused by heterozygous mutation in the TP53 gene (<a href="/entry/191170">191170</a>) on chromosome 17p13.</p>
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<p>Adrenocortical carcinoma (ADCC) is a rare but aggressive childhood tumor, representing about 0.4% of childhood tumors, with a high incidence of associated tumors. ADCC occurs with increased frequency in patients with the Beckwith-Wiedemann syndrome (<a href="/entry/130650">130650</a>) and is a component tumor in Li-Fraumeni syndrome (LFS; <a href="/entry/151623">151623</a>).</p>
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<p>Autosomal dominant inheritance of ADCC has been reported (e.g., by <a href="#7" class="mim-tip-reference" title="Longui, C. A., Lemos-Marini, S. H. V., Figueiredo, B., Mendonca, B. B., Castro, M., Liberatore, R., Jr., Watanabe, C., Lancellotti, C. L. P., Rocha, M. N., Melo, M. B., Monte, O., Calliari, L. E. P., and 9 others. <strong>Inhibin alpha-subunit (INHA) gene and locus changes in paediatric adrenocortical tumours from TP53 R337H mutation heterozygote carriers.</strong> J. Med. Genet. 41: 354-359, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15121773/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15121773</a>] [<a href="https://doi.org/10.1136/jmg.2004.018978" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15121773">Longui et al., 2004</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15121773" 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>Autosomal recessive inheritance is supported by the occurrence of ADCC in sibs and in children of consanguineous parents. <a href="#3" class="mim-tip-reference" title="Fraumeni, J. F., Jr., Miller, R. W. <strong>Adrenocortical neoplasms with hemihypertrophy, brain tumors, and other disorders.</strong> J. Pediat. 70: 129-138, 1967.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6016796/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6016796</a>] [<a href="https://doi.org/10.1016/s0022-3476(67)80179-3" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6016796">Fraumeni and Miller (1967)</a> mentioned affected sibs. <a href="#8" class="mim-tip-reference" title="Mahloudji, M., Ronaghy, H., Dutz, W. <strong>Virilizing adrenal carcinoma in two sibs.</strong> J. Med. Genet. 8: 160-163, 1971.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5096538/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5096538</a>] [<a href="https://doi.org/10.1136/jmg.8.2.160" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5096538">Mahloudji et al. (1971)</a> observed affected brother and sister who were products of a consanguineous union. <a href="#9" class="mim-tip-reference" title="Nichols, J. <strong>Adrenal cortex.In: Bloodworth, J. M. B. : Endocrine Pathology.</strong> Baltimore: Williams and Wilkins 1968. Pp. 224-255."None>Nichols (1968)</a> also described affected brother and sister. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=6016796+5096538" 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>One form of ADCC is caused by mutation in the TP53 gene, which maps to chromosome 17p13.</p><p><strong><em>Associations Pending Confirmation</em></strong></p><p>
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<a href="#5" class="mim-tip-reference" title="Henry, I., Huerre-Jeanpierre, C., Azoulay, M., Chaussain, J. L., Junien, C. <strong>A recessive oncogene for familial adrenocortical carcinoma (ADCC) maps to 11p. (Abstract)</strong> Cytogenet. Cell Genet. 46: 629 only, 1987."None>Henry et al. (1987)</a> described 2 brothers who developed ADCC with signs of virilism. Studies with 11p markers indicated loss of heterozygosity (LOH) in the tumor cells of both brothers; furthermore, the chromosome 11 region that remained in the tumor was the same and was inherited from the same parent. Henry et al. (<a href="#5" class="mim-tip-reference" title="Henry, I., Huerre-Jeanpierre, C., Azoulay, M., Chaussain, J. L., Junien, C. <strong>A recessive oncogene for familial adrenocortical carcinoma (ADCC) maps to 11p. (Abstract)</strong> Cytogenet. Cell Genet. 46: 629 only, 1987."None>1987</a>, <a href="#6" class="mim-tip-reference" title="Henry, I., Jeanpierre, M., Couillin, P., Barichard, F., Serre, J.-L., Journel, H., Lamouroux, A., Turleau, C., de Grouchy, J., Junien, C. <strong>Molecular definition of the 11p15.5 region involved in Beckwith-Wiedemann syndrome and probably in predisposition to adrenocortical carcinoma.</strong> Hum. Genet. 81: 273-277, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2921038/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2921038</a>] [<a href="https://doi.org/10.1007/BF00279003" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2921038">1989</a>) interpreted this as indicating the existence of a recessive oncogene responsible for hereditary ADCC on 11p, probably 11p15.5. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2921038" 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="#4" class="mim-tip-reference" title="Gicquel, C., Raffin-Sanson, M.-L., Gaston, V., Bertagna, X., Plouin, P.-F., Schlumberger, M., Louvel, A., Luton, J.-P., Le Bouc, Y. <strong>Structural and functional abnormalities at 11p15 are associated with the malignant phenotype in sporadic adrenocortical tumors: study on a series of 82 tumors.</strong> J. Clin. Endocr. Metab. 82: 2559-2565, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9253334/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9253334</a>] [<a href="https://doi.org/10.1210/jcem.82.8.4170" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9253334">Gicquel et al. (1997)</a> evaluated the frequency and distribution of 11p15 LOH and IGF2 gene (<a href="/entry/147470">147470</a>) overexpression in a series of 82 sporadic adrenocortical tumors. They screened for pathologic functional imprinting of the 11p15 region in tumors not exhibiting LOH and evaluated the expression of the H19 gene (<a href="/entry/103280">103280</a>) in these tumors. Abnormalities of the 11p15 region, including LOH with the loss of the maternal allele and duplication of the paternal allele and/or IGF2 gene overexpression, are frequent features of the malignant state; these abnormalities were found in 27 of 29 (93%) of the malignant tumors but in only 3 of 35 (9%) of the benign tumors. Tumors without abnormality of the 11p15 region, mainly benign tumors, did not exhibit pathologic functional imprinting. The authors concluded that dysregulation of the 11p15 region occurs in late steps of adrenocortical tumorigenesis and suggested that LOH and IGF2 overexpression are new molecular markers for better diagnostic and prognostic evaluations of adrenocortical tumors. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9253334" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#2" class="mim-tip-reference" title="Figueiredo, B. C., Stratakis, C. A., Sandrini, R., DeLacerda, L., Pianovsky, M. A. D., Giatzakis, C., Young, H. M., Haddad, B. R. <strong>Comparative genomic hybridization analysis of adrenocortical tumors of childhood.</strong> J. Clin. Endocr. Metab. 84: 1116-1121, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10084604/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10084604</a>] [<a href="https://doi.org/10.1210/jcem.84.3.5526" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10084604">Figueiredo et al. (1999)</a> noted that in southern Brazil, the incidence of ADCC is high, ranging from 3.4 to 4.2 per million children. They used comparative genomic hybridization to screen for DNA sequence copy number changes in 9 nonfamilial ADCC (6 carcinomas and 3 adenomas) from unrelated patients from this region. Chromosomes and chromosomal regions 1q, 5p, 5q, 6p, 6q, 8p, 8q, 9q, 10p, 11q, 12q, 13q, 14q, 15q, 16, 18q, 19, and 20q demonstrated gains, whereas 2q, 3, 4, 9p, 11, 13q, 18, 20p and Xq showed losses. The most striking finding was consistent copy number gain of chromosomal region 9q34 in 8 of the 9 tumors. They concluded that both benign and malignant ADCC from southern Brazil showed multiple genetic aberrations, including a consistent gain of chromosomal region 9q34. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10084604" 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="#11" class="mim-tip-reference" title="Varley, J. M. <strong>Germline TP53 mutations and Li-Fraumeni syndrome.</strong> Hum. Mutat. 21: 313-320, 2003. Note: Erratum: Hum. Mutat. 21: 551 only, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12619118/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12619118</a>] [<a href="https://doi.org/10.1002/humu.10185" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12619118">Varley (2003)</a> found that over 80% of a cohort of children with ADCC unselected for family history had a germline TP53 (<a href="/entry/191170">191170</a>) mutation; in addition, all 12 LFS or LFS-like families that they studied in which there was a case of ADCC had a germline TP53 mutation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12619118" 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="#7" class="mim-tip-reference" title="Longui, C. A., Lemos-Marini, S. H. V., Figueiredo, B., Mendonca, B. B., Castro, M., Liberatore, R., Jr., Watanabe, C., Lancellotti, C. L. P., Rocha, M. N., Melo, M. B., Monte, O., Calliari, L. E. P., and 9 others. <strong>Inhibin alpha-subunit (INHA) gene and locus changes in paediatric adrenocortical tumours from TP53 R337H mutation heterozygote carriers.</strong> J. Med. Genet. 41: 354-359, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15121773/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15121773</a>] [<a href="https://doi.org/10.1136/jmg.2004.018978" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15121773">Longui et al. (2004)</a> investigated the INHA gene (<a href="/entry/147380">147380</a>) in 46 Brazilian children with ADCC, 39 of whom were heterozygous carriers of the R337H TP53 mutation (<a href="/entry/191170#0035">191170.0035</a>). Six patients were heterozygous for 3 INHA mutations, and <a href="#7" class="mim-tip-reference" title="Longui, C. A., Lemos-Marini, S. H. V., Figueiredo, B., Mendonca, B. B., Castro, M., Liberatore, R., Jr., Watanabe, C., Lancellotti, C. L. P., Rocha, M. N., Melo, M. B., Monte, O., Calliari, L. E. P., and 9 others. <strong>Inhibin alpha-subunit (INHA) gene and locus changes in paediatric adrenocortical tumours from TP53 R337H mutation heterozygote carriers.</strong> J. Med. Genet. 41: 354-359, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15121773/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15121773</a>] [<a href="https://doi.org/10.1136/jmg.2004.018978" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15121773">Longui et al. (2004)</a> concluded that INHA may be one of the contributing factors needed for adrenocortical tumor formation in pediatric patients with the R337H TP53 mutation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15121773" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a male infant who developed an adrenocortical carcinoma and a choroid plexus carcinoma (see <a href="/entry/260500">260500</a>) by age 1.5 years, <a href="#10" class="mim-tip-reference" title="Russell-Swetek, A., West, A. N., Minturn, J. E., Jenkins, J., Rodriguez-Galindo, C., Ribeiro, R., Zambetti, G. P. <strong>Identification of a novel TP53 germline mutation E285V in a rare case of paediatric adrenocortical carcinoma and choroid plexus carcinoma</strong> J. Med. Genet. 45: 603-606, 2008. Note: Erratum: J. Med. Genet. 46: 216 only, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18762572/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18762572</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18762572[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1136/jmg.2008.059568" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18762572">Russell-Swetek et al. (2008)</a> identified a heterozygous de novo mutation in the TP53 gene (E285V; <a href="/entry/191170#0040">191170.0040</a>). Immunohistochemical analysis showed strong positive staining for p53 in the nuclei of both types of cancer cell, consistent with the tumors expressing the mutant p53 protein. Functional analyses of E285V revealed significant defects in its ability to regulate promoter activity, suppress tumor cell growth, and trigger apoptosis. The mutant protein also functioned efficiently as a dominant-negative regulator that neutralized wildtype p53 activity. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18762572" 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>Constitutive activation of beta-catenin (CTNNB1; <a href="/entry/116806">116806</a>) is the most frequent alteration in benign and malignant adrenocortical tumors in humans. <a href="#1" class="mim-tip-reference" title="Berthon, A., Sahut-Barnola, I., Lambert-Langlais, S., de Joussineau, C., Damon-Soubeyrand, C., Louiset, E., Taketo, A. M., Tissier, F., Bertherat, J., Lefrancois-Martinez, A.-M., Martinez, A., Val, P. <strong>Constitutive beta-catenin activation induces adrenal hyperplasia and promotes adrenal cancer development.</strong> Hum. Molec. Genet. 19: 1561-1576, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20106872/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20106872</a>] [<a href="https://doi.org/10.1093/hmg/ddq029" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20106872">Berthon et al. (2010)</a> showed that constitutive activation of beta-catenin in the adrenal cortex of transgenic mice resulted in progressive steroidogenic and undifferentiated spindle-shaped cell hyperplasia as well as dysplasia of the cortex and medulla. Over 17 months, transgenic adrenals developed malignant characteristics such as uncontrolled neovascularization and loco-regional metastatic invasion. These oncogenic events were accompanied by ectopic differentiation of glomerulosa at the expense of fasciculata cells, which caused primary hyperaldosteronism. <a href="#1" class="mim-tip-reference" title="Berthon, A., Sahut-Barnola, I., Lambert-Langlais, S., de Joussineau, C., Damon-Soubeyrand, C., Louiset, E., Taketo, A. M., Tissier, F., Bertherat, J., Lefrancois-Martinez, A.-M., Martinez, A., Val, P. <strong>Constitutive beta-catenin activation induces adrenal hyperplasia and promotes adrenal cancer development.</strong> Hum. Molec. Genet. 19: 1561-1576, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20106872/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20106872</a>] [<a href="https://doi.org/10.1093/hmg/ddq029" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20106872">Berthon et al. (2010)</a> concluded that constitutively active beta-catenin is an adrenal oncogene, which may trigger benign aldosterone-secreting tumor development and promote malignancy. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20106872" 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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Berthon, A., Sahut-Barnola, I., Lambert-Langlais, S., de Joussineau, C., Damon-Soubeyrand, C., Louiset, E., Taketo, A. M., Tissier, F., Bertherat, J., Lefrancois-Martinez, A.-M., Martinez, A., Val, P.
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<strong>Constitutive beta-catenin activation induces adrenal hyperplasia and promotes adrenal cancer development.</strong>
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Hum. Molec. Genet. 19: 1561-1576, 2010.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20106872/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20106872</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20106872" 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/ddq029" target="_blank">Full Text</a>]
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Figueiredo, B. C., Stratakis, C. A., Sandrini, R., DeLacerda, L., Pianovsky, M. A. D., Giatzakis, C., Young, H. M., Haddad, B. R.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10084604/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10084604</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10084604" 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/10.1210/jcem.84.3.5526" target="_blank">Full Text</a>]
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Fraumeni, J. F., Jr., Miller, R. W.
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<strong>Adrenocortical neoplasms with hemihypertrophy, brain tumors, and other disorders.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6016796/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6016796</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6016796" 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/s0022-3476(67)80179-3" target="_blank">Full Text</a>]
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Gicquel, C., Raffin-Sanson, M.-L., Gaston, V., Bertagna, X., Plouin, P.-F., Schlumberger, M., Louvel, A., Luton, J.-P., Le Bouc, Y.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9253334/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9253334</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9253334" 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/10.1210/jcem.82.8.4170" target="_blank">Full Text</a>]
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Henry, I., Huerre-Jeanpierre, C., Azoulay, M., Chaussain, J. L., Junien, C.
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<strong>A recessive oncogene for familial adrenocortical carcinoma (ADCC) maps to 11p. (Abstract)</strong>
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Henry, I., Jeanpierre, M., Couillin, P., Barichard, F., Serre, J.-L., Journel, H., Lamouroux, A., Turleau, C., de Grouchy, J., Junien, C.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2921038/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2921038</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2921038" 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/10.1007/BF00279003" target="_blank">Full Text</a>]
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Longui, C. A., Lemos-Marini, S. H. V., Figueiredo, B., Mendonca, B. B., Castro, M., Liberatore, R., Jr., Watanabe, C., Lancellotti, C. L. P., Rocha, M. N., Melo, M. B., Monte, O., Calliari, L. E. P., and 9 others.
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<strong>Inhibin alpha-subunit (INHA) gene and locus changes in paediatric adrenocortical tumours from TP53 R337H mutation heterozygote carriers.</strong>
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J. Med. Genet. 41: 354-359, 2004.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15121773/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15121773</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15121773" 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/10.1136/jmg.2004.018978" target="_blank">Full Text</a>]
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Mahloudji, M., Ronaghy, H., Dutz, W.
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<strong>Virilizing adrenal carcinoma in two sibs.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5096538/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5096538</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5096538" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Nichols, J.
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<strong>Adrenal cortex.In: Bloodworth, J. M. B. : Endocrine Pathology.</strong>
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Baltimore: Williams and Wilkins 1968. Pp. 224-255.
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Russell-Swetek, A., West, A. N., Minturn, J. E., Jenkins, J., Rodriguez-Galindo, C., Ribeiro, R., Zambetti, G. P.
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<strong>Identification of a novel TP53 germline mutation E285V in a rare case of paediatric adrenocortical carcinoma and choroid plexus carcinoma</strong>
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J. Med. Genet. 45: 603-606, 2008. Note: Erratum: J. Med. Genet. 46: 216 only, 2009.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18762572/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18762572</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18762572[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18762572" 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/10.1136/jmg.2008.059568" target="_blank">Full Text</a>]
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<p class="mim-text-font">
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Varley, J. M.
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<strong>Germline TP53 mutations and Li-Fraumeni syndrome.</strong>
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Hum. Mutat. 21: 313-320, 2003. Note: Erratum: Hum. Mutat. 21: 551 only, 2003.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12619118/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12619118</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12619118" 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/humu.10185" target="_blank">Full Text</a>]
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George E. Tiller - updated : 11/21/2011
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Cassandra L. Kniffin - updated : 10/3/2008<br>Marla J. F. O'Neill - updated : 6/11/2004<br>John A. Phillips, III - updated : 10/3/1999<br>John A. Phillips, III - updated : 10/30/1997
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Creation Date:
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Victor A. McKusick : 6/2/1986
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carol : 03/28/2022
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carol : 11/06/2018<br>carol : 11/12/2013<br>terry : 5/17/2012<br>carol : 11/21/2011<br>terry : 11/21/2011<br>wwang : 10/7/2008<br>ckniffin : 10/3/2008<br>carol : 6/14/2004<br>carol : 6/14/2004<br>terry : 6/11/2004<br>alopez : 10/3/1999<br>alopez : 10/3/1999<br>dholmes : 11/10/1997<br>dholmes : 10/30/1997<br>dholmes : 10/28/1997<br>mimadm : 11/12/1995<br>davew : 7/19/1994<br>terry : 4/26/1994<br>carol : 1/13/1993<br>supermim : 3/16/1992<br>carol : 4/12/1991
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<span class="mim-font">
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<strong>#</strong> 202300
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ADRENOCORTICAL CARCINOMA, HEREDITARY; ADCC
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<span class="mim-font">
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Other entities represented in this entry:
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<span class="h3 mim-font">
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ADRENOCORTICAL CARCINOMA, PEDIATRIC, INCLUDED
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<strong>ORPHA:</strong> 1501;
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<strong>DO:</strong> 3948;
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<strong>Phenotype-Gene Relationships</strong>
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Location
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Phenotype
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Phenotype <br /> MIM number
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Inheritance
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Phenotype <br /> mapping key
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Gene/Locus
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Gene/Locus <br /> MIM number
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<span class="mim-font">
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17p13.1
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<td>
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<span class="mim-font">
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{Adrenocortical carcinoma, pediatric}
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<td>
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<span class="mim-font">
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202300
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<td>
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<span class="mim-font">
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Autosomal dominant
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</span>
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</td>
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<td>
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<span class="mim-font">
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3
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<td>
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<span class="mim-font">
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TP53
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<span class="mim-font">
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191170
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</table>
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<span class="mim-font">
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<strong>TEXT</strong>
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</h4>
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<span class="mim-text-font">
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<p>A number sign (#) is used with this entry because of evidence that one form of adrenocortical carcinoma is caused by heterozygous mutation in the TP53 gene (191170) on chromosome 17p13.</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>Description</strong>
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</span>
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</div>
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<span class="mim-text-font">
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<p>Adrenocortical carcinoma (ADCC) is a rare but aggressive childhood tumor, representing about 0.4% of childhood tumors, with a high incidence of associated tumors. ADCC occurs with increased frequency in patients with the Beckwith-Wiedemann syndrome (130650) and is a component tumor in Li-Fraumeni syndrome (LFS; 151623).</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>Inheritance</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>Autosomal dominant inheritance of ADCC has been reported (e.g., by Longui et al., 2004). </p><p>Autosomal recessive inheritance is supported by the occurrence of ADCC in sibs and in children of consanguineous parents. Fraumeni and Miller (1967) mentioned affected sibs. Mahloudji et al. (1971) observed affected brother and sister who were products of a consanguineous union. Nichols (1968) also described affected brother and sister. </p>
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<div>
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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>One form of ADCC is caused by mutation in the TP53 gene, which maps to chromosome 17p13.</p><p><strong><em>Associations Pending Confirmation</em></strong></p><p>
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Henry et al. (1987) described 2 brothers who developed ADCC with signs of virilism. Studies with 11p markers indicated loss of heterozygosity (LOH) in the tumor cells of both brothers; furthermore, the chromosome 11 region that remained in the tumor was the same and was inherited from the same parent. Henry et al. (1987, 1989) interpreted this as indicating the existence of a recessive oncogene responsible for hereditary ADCC on 11p, probably 11p15.5. </p><p>Gicquel et al. (1997) evaluated the frequency and distribution of 11p15 LOH and IGF2 gene (147470) overexpression in a series of 82 sporadic adrenocortical tumors. They screened for pathologic functional imprinting of the 11p15 region in tumors not exhibiting LOH and evaluated the expression of the H19 gene (103280) in these tumors. Abnormalities of the 11p15 region, including LOH with the loss of the maternal allele and duplication of the paternal allele and/or IGF2 gene overexpression, are frequent features of the malignant state; these abnormalities were found in 27 of 29 (93%) of the malignant tumors but in only 3 of 35 (9%) of the benign tumors. Tumors without abnormality of the 11p15 region, mainly benign tumors, did not exhibit pathologic functional imprinting. The authors concluded that dysregulation of the 11p15 region occurs in late steps of adrenocortical tumorigenesis and suggested that LOH and IGF2 overexpression are new molecular markers for better diagnostic and prognostic evaluations of adrenocortical tumors. </p><p>Figueiredo et al. (1999) noted that in southern Brazil, the incidence of ADCC is high, ranging from 3.4 to 4.2 per million children. They used comparative genomic hybridization to screen for DNA sequence copy number changes in 9 nonfamilial ADCC (6 carcinomas and 3 adenomas) from unrelated patients from this region. Chromosomes and chromosomal regions 1q, 5p, 5q, 6p, 6q, 8p, 8q, 9q, 10p, 11q, 12q, 13q, 14q, 15q, 16, 18q, 19, and 20q demonstrated gains, whereas 2q, 3, 4, 9p, 11, 13q, 18, 20p and Xq showed losses. The most striking finding was consistent copy number gain of chromosomal region 9q34 in 8 of the 9 tumors. They concluded that both benign and malignant ADCC from southern Brazil showed multiple genetic aberrations, including a consistent gain of chromosomal region 9q34. </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>Molecular Genetics</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>Varley (2003) found that over 80% of a cohort of children with ADCC unselected for family history had a germline TP53 (191170) mutation; in addition, all 12 LFS or LFS-like families that they studied in which there was a case of ADCC had a germline TP53 mutation. </p><p>Longui et al. (2004) investigated the INHA gene (147380) in 46 Brazilian children with ADCC, 39 of whom were heterozygous carriers of the R337H TP53 mutation (191170.0035). Six patients were heterozygous for 3 INHA mutations, and Longui et al. (2004) concluded that INHA may be one of the contributing factors needed for adrenocortical tumor formation in pediatric patients with the R337H TP53 mutation. </p><p>In a male infant who developed an adrenocortical carcinoma and a choroid plexus carcinoma (see 260500) by age 1.5 years, Russell-Swetek et al. (2008) identified a heterozygous de novo mutation in the TP53 gene (E285V; 191170.0040). Immunohistochemical analysis showed strong positive staining for p53 in the nuclei of both types of cancer cell, consistent with the tumors expressing the mutant p53 protein. Functional analyses of E285V revealed significant defects in its ability to regulate promoter activity, suppress tumor cell growth, and trigger apoptosis. The mutant protein also functioned efficiently as a dominant-negative regulator that neutralized wildtype p53 activity. </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>Animal Model</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>Constitutive activation of beta-catenin (CTNNB1; 116806) is the most frequent alteration in benign and malignant adrenocortical tumors in humans. Berthon et al. (2010) showed that constitutive activation of beta-catenin in the adrenal cortex of transgenic mice resulted in progressive steroidogenic and undifferentiated spindle-shaped cell hyperplasia as well as dysplasia of the cortex and medulla. Over 17 months, transgenic adrenals developed malignant characteristics such as uncontrolled neovascularization and loco-regional metastatic invasion. These oncogenic events were accompanied by ectopic differentiation of glomerulosa at the expense of fasciculata cells, which caused primary hyperaldosteronism. Berthon et al. (2010) concluded that constitutively active beta-catenin is an adrenal oncogene, which may trigger benign aldosterone-secreting tumor development and promote malignancy. </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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<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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Berthon, A., Sahut-Barnola, I., Lambert-Langlais, S., de Joussineau, C., Damon-Soubeyrand, C., Louiset, E., Taketo, A. M., Tissier, F., Bertherat, J., Lefrancois-Martinez, A.-M., Martinez, A., Val, P.
|
|
<strong>Constitutive beta-catenin activation induces adrenal hyperplasia and promotes adrenal cancer development.</strong>
|
|
Hum. Molec. Genet. 19: 1561-1576, 2010.
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[PubMed: 20106872]
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[Full Text: https://doi.org/10.1093/hmg/ddq029]
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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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Figueiredo, B. C., Stratakis, C. A., Sandrini, R., DeLacerda, L., Pianovsky, M. A. D., Giatzakis, C., Young, H. M., Haddad, B. R.
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<strong>Comparative genomic hybridization analysis of adrenocortical tumors of childhood.</strong>
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J. Clin. Endocr. Metab. 84: 1116-1121, 1999.
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[PubMed: 10084604]
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[Full Text: https://doi.org/10.1210/jcem.84.3.5526]
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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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Fraumeni, J. F., Jr., Miller, R. W.
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<strong>Adrenocortical neoplasms with hemihypertrophy, brain tumors, and other disorders.</strong>
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J. Pediat. 70: 129-138, 1967.
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[PubMed: 6016796]
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[Full Text: https://doi.org/10.1016/s0022-3476(67)80179-3]
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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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Gicquel, C., Raffin-Sanson, M.-L., Gaston, V., Bertagna, X., Plouin, P.-F., Schlumberger, M., Louvel, A., Luton, J.-P., Le Bouc, Y.
|
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<strong>Structural and functional abnormalities at 11p15 are associated with the malignant phenotype in sporadic adrenocortical tumors: study on a series of 82 tumors.</strong>
|
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J. Clin. Endocr. Metab. 82: 2559-2565, 1997.
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[PubMed: 9253334]
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[Full Text: https://doi.org/10.1210/jcem.82.8.4170]
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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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Henry, I., Huerre-Jeanpierre, C., Azoulay, M., Chaussain, J. L., Junien, C.
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<strong>A recessive oncogene for familial adrenocortical carcinoma (ADCC) maps to 11p. (Abstract)</strong>
|
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Cytogenet. Cell Genet. 46: 629 only, 1987.
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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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Henry, I., Jeanpierre, M., Couillin, P., Barichard, F., Serre, J.-L., Journel, H., Lamouroux, A., Turleau, C., de Grouchy, J., Junien, C.
|
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<strong>Molecular definition of the 11p15.5 region involved in Beckwith-Wiedemann syndrome and probably in predisposition to adrenocortical carcinoma.</strong>
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Hum. Genet. 81: 273-277, 1989.
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[PubMed: 2921038]
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[Full Text: https://doi.org/10.1007/BF00279003]
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</p>
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Longui, C. A., Lemos-Marini, S. H. V., Figueiredo, B., Mendonca, B. B., Castro, M., Liberatore, R., Jr., Watanabe, C., Lancellotti, C. L. P., Rocha, M. N., Melo, M. B., Monte, O., Calliari, L. E. P., and 9 others.
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<strong>Inhibin alpha-subunit (INHA) gene and locus changes in paediatric adrenocortical tumours from TP53 R337H mutation heterozygote carriers.</strong>
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J. Med. Genet. 41: 354-359, 2004.
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[PubMed: 15121773]
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[Full Text: https://doi.org/10.1136/jmg.2004.018978]
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Mahloudji, M., Ronaghy, H., Dutz, W.
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<strong>Virilizing adrenal carcinoma in two sibs.</strong>
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J. Med. Genet. 8: 160-163, 1971.
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[PubMed: 5096538]
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[Full Text: https://doi.org/10.1136/jmg.8.2.160]
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Nichols, J.
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<strong>Adrenal cortex.In: Bloodworth, J. M. B. : Endocrine Pathology.</strong>
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Baltimore: Williams and Wilkins 1968. Pp. 224-255.
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Russell-Swetek, A., West, A. N., Minturn, J. E., Jenkins, J., Rodriguez-Galindo, C., Ribeiro, R., Zambetti, G. P.
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<strong>Identification of a novel TP53 germline mutation E285V in a rare case of paediatric adrenocortical carcinoma and choroid plexus carcinoma</strong>
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J. Med. Genet. 45: 603-606, 2008. Note: Erratum: J. Med. Genet. 46: 216 only, 2009.
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[PubMed: 18762572]
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[Full Text: https://doi.org/10.1136/jmg.2008.059568]
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Varley, J. M.
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<strong>Germline TP53 mutations and Li-Fraumeni syndrome.</strong>
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Hum. Mutat. 21: 313-320, 2003. Note: Erratum: Hum. Mutat. 21: 551 only, 2003.
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[PubMed: 12619118]
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[Full Text: https://doi.org/10.1002/humu.10185]
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George E. Tiller - updated : 11/21/2011<br>Cassandra L. Kniffin - updated : 10/3/2008<br>Marla J. F. O'Neill - updated : 6/11/2004<br>John A. Phillips, III - updated : 10/3/1999<br>John A. Phillips, III - updated : 10/30/1997
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Victor A. McKusick : 6/2/1986
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