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Entry
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- #175200 - PEUTZ-JEGHERS SYNDROME; PJS
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- OMIM
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<p>
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<span class="h4">#175200</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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<li role="presentation">
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<a href="/clinicalSynopsis/175200"><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="#clinicalFeatures">Clinical Features</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="#genotypePhenotypeCorrelations">Genotype/Phenotype Correlations</a>
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<a href="#history">History</a>
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<li role="presentation">
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<a href="#seeAlso"><strong>See Also</strong></a>
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</li>
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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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<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 id="mimExternalLinksToggleTriangle" class="small" style="color: white; display: table-cell;">▼</div>
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<div style="display: table-cell;">External Links</div>
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</div>
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</a>
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</h4>
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</div>
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</div>
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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 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=PEUTZ-JEGHERS SYNDROME" 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=233&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.ncbi.nlm.nih.gov/books/NBK1266/" class="mim-tip-hint" title="Expert-authored, peer-reviewed descriptions of inherited disorders including the uses of genetic testing in diagnosis, management, and genetic counseling." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Gene Reviews', 'domain': 'ncbi.nlm.nih.gov'})">Gene Reviews</a></div>
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<div><a href="https://www.diseaseinfosearch.org/x/5695" 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://medlineplus.gov/genetics/condition/peutz-jeghers-syndrome" class="mim-tip-hint" title="Consumer-friendly information about the effects of genetic variation on human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MedlinePlus Genetics', 'domain': 'medlineplus.gov'})">MedlinePlus Genetics</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=175200[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=2869" 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><a href="https://www.possumcore.com/nuxeo/nxdoc/default/a46ac050-30fd-41c5-ae78-e585a169fbb4/view_documents?source=omim" class="mim-tip-hint" title="A dysmorphology database of multiple malformations; metabolic, teratogenic, chromosomal, and skeletal syndromes; and their images." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'POSSUM', 'domain': 'possum.net.au'})">POSSUM</a></div>
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</div>
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</div>
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</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="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://www.alliancegenome.org/disease/DOID:3852" 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/175200" class="mim-tip-hint" title="Phenotypes, alleles, and disease models from Mouse Genome Informatics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Phenotype', 'domain': 'informatics.jax.org'})">MGI Mouse Phenotype</a></div>
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<div><a href="https://wormbase.org/resources/disease/DOID:3852" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Disease Ontology', 'domain': 'wormbase.org'})">Wormbase Disease Ontology</a></div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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</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> 54411001<br />
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<strong>ICD10CM:</strong> Q85.89<br />
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<strong>ORPHA:</strong> 2869<br />
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<strong>DO:</strong> 3852<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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175200
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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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PEUTZ-JEGHERS SYNDROME; PJS
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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>
|
|
<span class="mim-font">
|
|
POLYPOSIS, HAMARTOMATOUS INTESTINAL<br />
|
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POLYPS-AND-SPOTS SYNDROME
|
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</span>
|
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<a id="phenotypeMap" class="mim-anchor"></a>
|
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<h4>
|
|
<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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<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/19/46?start=-3&limit=10&highlight=46">
|
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19p13.3
|
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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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Peutz-Jeghers syndrome
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</span>
|
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</td>
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<td>
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<span class="mim-font">
|
|
<a href="/entry/175200"> 175200 </a>
|
|
</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">
|
|
STK11
|
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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/602216"> 602216 </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/175200" class="btn btn-warning" role="button"> Clinical Synopsis </a>
|
|
<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">
|
|
PheneGene Graphics <span class="caret"></span>
|
|
</button>
|
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<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/175200" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
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<li><a href="/graph/radial/175200" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
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</ul>
|
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</div>
|
|
<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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|
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<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
|
|
<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">
|
|
<strong> INHERITANCE </strong>
|
|
</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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|
|
- 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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|
|
</span>
|
|
</div>
|
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</div>
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</div>
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<div>
|
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<div>
|
|
<span class="h5 mim-font">
|
|
<strong> HEAD & NECK </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
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|
|
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|
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<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Nose </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Nasal polyps <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/736500007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">736500007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/J33" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">J33</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/J33.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">J33.0</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/J33.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">J33.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/471.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">471.9</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/471.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">471.0</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/471" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">471</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0027430&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0027430</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0100582" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0100582</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0100582" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0100582</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Mouth </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Hyperpigmented macules of lips <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1868012&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1868012</a>]</span><br /> -
|
|
Hyperpigmented macules of buccal mucosa <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1868013&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1868013</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> RESPIRATORY </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Airways </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Bronchial polyps <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1112360&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1112360</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> CHEST </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Breasts </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Gynecomastia with Sertoli cell tumors <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1868008&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1868008</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> ABDOMEN </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Biliary Tract </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Biliary tract polyps <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1868009&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1868009</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Gastrointestinal </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Hamartomatous polyps (stomach to rectum) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1868010&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1868010</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004390" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004390</a>]</span><br /> -
|
|
Recurrent colicky abdominal pain <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1868011&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1868011</a>]</span><br /> -
|
|
Intussusception <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/41444002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">41444002</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/49723003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">49723003</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/K56.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">K56.1</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/560.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">560.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0021933&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0021933</a>, <a href="https://bioportal.bioontology.org/search?q=C0221224&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0221224</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002576" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002576</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002576" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002576</a>]</span><br /> -
|
|
Rectal prolapse <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/57773001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">57773001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/K62.3" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">K62.3</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/569.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">569.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0034888&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0034888</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002035" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002035</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002035" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002035</a>]</span><br /> -
|
|
Intestinal bleeding <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/712510007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">712510007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/K92.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">K92.2</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0267373&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0267373</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002584" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002584</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002584" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002584</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> GENITOURINARY </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Internal Genitalia (Female) </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Ovarian cysts <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/79883001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">79883001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/N83.209" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">N83.209</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/N83.20" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">N83.20</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0029927&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0029927</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000138" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000138</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
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|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Ureters </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Ureteral polyps <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/197821004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">197821004</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0346269&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0346269</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0025635" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0025635</a>]</span><br />
|
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|
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</span>
|
|
</div>
|
|
</div>
|
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|
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|
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<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Bladder </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Bladder polyps <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/309248004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">309248004</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0586737&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0586737</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0031261" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0031261</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
</div>
|
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|
|
</div>
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<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> SKELETAL </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Hands </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Clubbing of fingers <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/30760008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">30760008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R68.3" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R68.3</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/781.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">781.5</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0009080&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0009080</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0100759" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0100759</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0100759" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0100759</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> SKIN, NAILS, & HAIR </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Skin </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Hyperpigmented spots on hands (especially palms), arms, feet (especially plantar areas), legs, and lips <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1868015&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1868015</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
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|
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|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> ENDOCRINE FEATURES </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Precocious puberty with Sertoli cell tumor <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1868007&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1868007</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0008204" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008204</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0008204" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008204</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> HEMATOLOGY </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Iron deficiency anemia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/87522002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">87522002</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/D50" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">D50</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/D50.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">D50.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/280" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">280</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/280.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">280.9</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0162316&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0162316</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001891" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001891</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001891" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001891</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> NEOPLASIA </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Gastrointestinal carcinoma <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0151544&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0151544</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002672" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002672</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002672" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002672</a>]</span><br /> -
|
|
Breast cancer (ductal) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1527349&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1527349</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/254838004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">254838004</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/254837009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">254837009</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/C50-C50" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">C50-C50</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/C50" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">C50</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003002</a>]</span><br /> -
|
|
Thyroid cancer <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/127018007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">127018007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/363478007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">363478007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/C73" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">C73</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/193" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">193</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0040136&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0040136</a>, <a href="https://bioportal.bioontology.org/search?q=C0549473&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0549473</a>, <a href="https://bioportal.bioontology.org/search?q=C0007115&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0007115</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0100031" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0100031</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0002890" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002890</a>]</span><br /> -
|
|
Lung <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/39607008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">39607008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/19829001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">19829001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/J98.4" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">J98.4</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0024109&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0024109</a>, <a href="https://bioportal.bioontology.org/search?q=C0024115&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0024115</a>, <a href="https://bioportal.bioontology.org/search?q=C4037972&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4037972</a>, <a href="https://bioportal.bioontology.org/search?q=C0740941&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0740941</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002088" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002088</a>]</span><br /> -
|
|
Pancreatic cancer <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/372142002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">372142002</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/363418001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">363418001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/C25" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">C25</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/C25.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">C25.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/157.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">157.9</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/157" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">157</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0235974&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0235974</a>, <a href="https://bioportal.bioontology.org/search?q=C0346647&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0346647</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002894" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002894</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002894" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002894</a>]</span><br /> -
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<p>A number sign (#) is used with this entry because Peutz-Jeghers syndrome (PJS) is caused by heterozygous mutation in the serine/threonine kinase STK11 gene (<a href="/entry/602216">602216</a>) on chromosome 19p13.</p>
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<p>Peutz-Jeghers syndrome is an autosomal dominant disorder characterized by melanocytic macules of the lips, buccal mucosa, and digits; multiple gastrointestinal hamartomatous polyps; and an increased risk of various neoplasms.</p>
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<p>In the syndrome named for <a href="#64" class="mim-tip-reference" title="Peutz, J. L. A. <strong>Very remarkable case of familial polyposis of mucous membrane of intestinal tract and nasopharynx accompanied by peculiar pigmentations of skin and mucous membrane. (Dutch).</strong> Nederl. Maandschr. Geneesk. 10: 134-146, 1921."None>Peutz (1921)</a> and Jeghers (<a href="#37" class="mim-tip-reference" title="Jeghers, H., McKusick, V. A., Katz, K. H. <strong>Generalized intestinal polyposis and melanin spots of the oral mucosa, lips and digits.</strong> New Eng. J. Med. 241: 993-1005 and 1031-1036, 1949.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15399020/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15399020</a>] [<a href="https://doi.org/10.1056/NEJM194912222412501" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15399020">Jeghers et al., 1949</a>), polyps may occur in any part of the gastrointestinal tract but jejunal polyps are a consistent feature. Intussusception and bleeding are the usual symptoms. Melanin spots of the lips, buccal mucosa, and digits represent the second part of the syndrome. Malignant degeneration of the small intestinal polyps is rare. Metastases from a malignant polyp in Peutz-Jeghers syndrome was reported by <a href="#80" class="mim-tip-reference" title="Williams, J. P., Knudsen, A. <strong>Peutz-Jeghers syndrome with metastasizing duodenal carcinoma.</strong> Gut 6: 179-184, 1965.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14279723/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14279723</a>] [<a href="https://doi.org/10.1136/gut.6.2.179" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14279723">Williams and Knudsen (1965)</a>. <a href="#21" class="mim-tip-reference" title="Dodds, W. J., Schulte, W. J., Hensley, G. T., Hogan, W. J. <strong>Peutz-Jeghers syndrome and gastrointestinal malignancy.</strong> Am. J. Roentgen. Radium Ther. Nucl. Med. 115: 374-377, 1972.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5037799/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5037799</a>] [<a href="https://doi.org/10.2214/ajr.115.2.374" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5037799">Dodds et al. (1972)</a> found 15 cases of gastrointestinal carcinoma in Peutz-Jeghers syndrome: 5 in colon, 4 in duodenum, 4 in stomach, 1 in ileum, and 1 in both jejunum and stomach. In the family reported by <a href="#25" class="mim-tip-reference" title="Farmer, R. G., Hawk, W. A., Turnbull, R. B. <strong>The spectrum of the Peutz-Jeghers syndrome: report of 3 cases.</strong> Am. J. Dig. Dis. 8: 953-961, 1963.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14083822/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14083822</a>] [<a href="https://doi.org/10.1007/BF02232093" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14083822">Farmer et al. (1963)</a>, the father had only polyps, the son apparently only pigmentation, and the daughter both polyps and pigmentation. <a href="#47" class="mim-tip-reference" title="Kieselstein, M., Herman, G., Wahrman, J., Voss, R., Gitelson, S., Feuchtwanger, M., Kadar, S. <strong>Mucocutaneous pigmentation and intestinal polyposis (Peutz-Jeghers syndrome) in a family of Iraqi Jews with polycystic kidney disease, with a chromosome study.</strong> Isr. J. Med. Sci. 5: 81-90, 1969.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5796283/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5796283</a>]" pmid="5796283">Kieselstein et al. (1969)</a>, who found polycystic kidney disease in the same family, also noted a dissociation of signs. <a href="#12" class="mim-tip-reference" title="Brigg, J. K., Taylor, T. V., Torrance, H. B. <strong>Unusual manifestations of the Peutz-Jeghers syndrome.</strong> Brit. Med. J. 2: 853, 1976.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/990720/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">990720</a>] [<a href="https://doi.org/10.1136/bmj.2.6040.853" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="990720">Brigg et al. (1976)</a> observed a case of presumed Peutz-Jeghers syndrome without spots or positive family history. Hamartomatous polyps were limited to the jejunum and caused bleeding. <a href="#30" class="mim-tip-reference" title="Griffith, C. D. M., Bisset, W. H. <strong>Peutz-Jeghers syndrome.</strong> Arch. Dis. Child. 55: 866-869, 1980.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7436458/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7436458</a>] [<a href="https://doi.org/10.1136/adc.55.11.866" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7436458">Griffith and Bisset (1980)</a> reported 3 cases. In 2 of them, the family history was negative; in the third, the father and a paternal uncle had melanin spots of the lips but no history of intestinal disorder. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=14279723+990720+15399020+5037799+7436458+14083822+5796283" 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="#72" class="mim-tip-reference" title="Sommerhaug, R. G., Mason, T. <strong>Peutz-Jeghers syndrome and ureteral polyposis.</strong> JAMA 211: 120-122, 1970.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5466889/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5466889</a>]" pmid="5466889">Sommerhaug and Mason (1970)</a> added the ureter to the sites of polyps described in the Peutz-Jeghers syndrome. Previously described extraintestinal sites include esophagus, bladder, renal pelvis, bronchus and nose. <a href="#15" class="mim-tip-reference" title="Burdick, D., Prior, J. T. <strong>Peutz-Jeghers syndrome: a clinicopathologic study of a large family with a 27-year follow-up.</strong> Cancer 50: 2139-2146, 1982.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7127254/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7127254</a>] [<a href="https://doi.org/10.1002/1097-0142(19821115)50:10<2139::aid-cncr2820501028>3.0.co;2-k" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7127254">Burdick and Prior (1982)</a> reported nonresectable adenocarcinoma of the jejunum arising in a Peutz-Jeghers polyp and accompanied by metastases in mesenteric lymph nodes. Two developed breast carcinoma of which 1 arose in a fibroadenoma. Three had benign ovarian tumors, 1 had a benign breast tumor and 1 had a benign colloid thyroid nodule. One of the cases (case 7) reported by <a href="#37" class="mim-tip-reference" title="Jeghers, H., McKusick, V. A., Katz, K. H. <strong>Generalized intestinal polyposis and melanin spots of the oral mucosa, lips and digits.</strong> New Eng. J. Med. 241: 993-1005 and 1031-1036, 1949.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15399020/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15399020</a>] [<a href="https://doi.org/10.1056/NEJM194912222412501" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15399020">Jeghers et al. (1949)</a> died of pancreatic cancer. <a href="#11" class="mim-tip-reference" title="Bowlby, L. S. <strong>Pancreatic adenocarcinoma in an adolescent male with Peutz-Jeghers syndrome.</strong> Hum. Path. 17: 97-99, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3943856/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3943856</a>] [<a href="https://doi.org/10.1016/s0046-8177(86)80163-0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3943856">Bowlby (1986)</a> reported pancreatic cancer in an adolescent boy with PJS. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7127254+3943856+5466889+15399020" 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>Affected females are prone to develop ovarian tumor, especially granulosa cell tumor (<a href="#17" class="mim-tip-reference" title="Christian, C. D., McLoughlin, T. G., Cathcart, E. S., Eisenberg, M. M. <strong>Peutz-Jeghers syndrome associated with functioning ovarian tumor.</strong> JAMA 190: 935-938, 1964.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14214503/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14214503</a>] [<a href="https://doi.org/10.1001/jama.1964.03070230071027" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14214503">Christian et al., 1964</a>). <a href="#81" class="mim-tip-reference" title="Wilson, D. M., Pitts, W. C., Hintz, R. L., Rosenfeld, R. G. <strong>Testicular tumors with Peutz-Jeghers syndrome.</strong> Cancer 57: 2238-2240, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3697923/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3697923</a>] [<a href="https://doi.org/10.1002/1097-0142(19860601)57:11<2238::aid-cncr2820571128>3.0.co;2-c" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3697923">Wilson et al. (1986)</a> described gynecomastia and multifocal and bilateral testicular tumors in a 6-year-old boy with PJS. The testicular tumors appear to be of Sertoli cell origin and most are calcifying. Two previously reported cases were found. <a href="#19" class="mim-tip-reference" title="Coen, P., Kulin, H., Ballantine, T., Zaino, R., Frauenhoffer, E., Boal, D., Inkster, S., Brodie, A., Santen, R. <strong>An aromatase-producing sex-cord tumor resulting in prepubertal gynecomastia.</strong> New Eng. J. Med. 324: 317-322, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1986290/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1986290</a>] [<a href="https://doi.org/10.1056/NEJM199101313240507" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1986290">Coen et al. (1991)</a> reported the case of a 4-year-old boy with Peutz-Jeghers syndrome and bilateral sex-cord testicular tumors resulting in gynecomastia. Studies led to the conclusion that increase in aromatase activity (<a href="/entry/107910">107910</a>) in the gonadal tumors was responsible for estrogen excess and gynecomastia. Three other reported male patients with Peutz-Jeghers syndrome and gonadal tumors had presented with gynecomastia between birth and 6 years of age. They pointed out that multifocal sex-cord tumors were found in palpably normal testes. The occurrence of ovarian tumors far exceeds that of testicular tumors in this disorder. The production of estrogen by ovarian tumors is indicated by the reported appearance of isosexual precocity in girls with PJS (<a href="#71" class="mim-tip-reference" title="Solh, H. M., Azoury, R. S., Najjar, S. S. <strong>Peutz-Jeghers syndrome associated with precocious puberty.</strong> J. Pediat. 103: 593-595, 1983.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6620020/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6620020</a>] [<a href="https://doi.org/10.1016/s0022-3476(83)80595-2" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6620020">Solh et al., 1983</a>). <a href="#83" class="mim-tip-reference" title="Young, S., Gooneratne, S., Straus, F. H., II, Zeller, W. P., Bulun, S. E., Rosenthal, I. M. <strong>Feminizing Sertoli cell tumors in boys with Peutz-Jeghers syndrome.</strong> Am. J. Surg. Path. 19: 50-58, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7802138/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7802138</a>] [<a href="https://doi.org/10.1097/00000478-199501000-00007" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7802138">Young et al. (1995)</a> reported 2 boys, aged 3.5 and 5.5 years, who were evaluated for gynecomastia and found to have multicentric Sertoli cell testicular tumors responsible for their feminization. Both had rapid growth and advanced bone age, and serum levels of estradiol were markedly elevated. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=14214503+3697923+1986290+6620020+7802138" 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="#9" class="mim-tip-reference" title="Bergada, I., Del Toro, K., Katz, O., Chemes, H., Campo, S. <strong>Serum inhibin B concentration in a prepubertal boy with gynecomastia and Peutz-Jeghers syndrome.</strong> J. Pediat. Endocr. Metab. 13: 101-103, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10689645/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10689645</a>] [<a href="https://doi.org/10.1515/jpem.2000.13.1.101" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10689645">Bergada et al. (2000)</a> described a 7-year-old boy with Peutz-Jeghers syndrome, gynecomastia, and bilateral neoplastic Sertoli cell proliferation in whom the only abnormal hormonal profile was increased concentration of inhibin-beta (see <a href="/entry/147290">147290</a>), which was biologically active, and pro-alpha C of insulin, which was biologically inactive. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10689645" 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 patient with both psoriasis and Peutz-Jeghers syndrome (sine polyps), <a href="#7" class="mim-tip-reference" title="Banse-Kupin, L. A., Douglass, M. C. <strong>Localization of Peutz-Jeghers macules to psoriatic plaques.</strong> Arch. Derm. 122: 679-683, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3717978/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3717978</a>]" pmid="3717978">Banse-Kupin and Douglass (1986)</a> described a peculiar phenomenon: the development of characteristic pigmented macules within preexisting psoriatic plaques in sites highly unusual for PJS, e.g., on the elbow, back of the neck and occipital scalp, buttocks, and legs. <a href="#72" class="mim-tip-reference" title="Sommerhaug, R. G., Mason, T. <strong>Peutz-Jeghers syndrome and ureteral polyposis.</strong> JAMA 211: 120-122, 1970.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5466889/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5466889</a>]" pmid="5466889">Sommerhaug and Mason (1970)</a> suggested that patients with PJS develop polyps in areas of frequent trauma. <a href="#7" class="mim-tip-reference" title="Banse-Kupin, L. A., Douglass, M. C. <strong>Localization of Peutz-Jeghers macules to psoriatic plaques.</strong> Arch. Derm. 122: 679-683, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3717978/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3717978</a>]" pmid="3717978">Banse-Kupin and Douglass (1986)</a> proposed that pigmented macules may likewise be located in areas of frequent trauma or areas of inflammation. Inflammation may induce blockage of pigment transfer from melanocyte to keratinocyte, resulting in a macule. As the inflammation or trauma subsides, so may the blockage and the lesion may fade. Histologically, the oral mucosal lesions resemble lentigo simplex, but the acral lesions are distinctive (<a href="#82" class="mim-tip-reference" title="Yamada, K., Matsukawa, A., Hori, Y., Kukita, A. <strong>Ultrastructural studies on pigmented macules of the Peutz-Jeghers syndrome.</strong> J. Derm. 8: 367-377, 1981.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7035511/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7035511</a>] [<a href="https://doi.org/10.1111/j.1346-8138.1981.tb02587.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7035511">Yamada et al., 1981</a>). There is an increased number of melanocytes with long dendrites filled with melanosomes but few melanosomes in keratocytes, suggesting a pigment block. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7035511+3717978+5466889" 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="#29" class="mim-tip-reference" title="Giardiello, F. M., Welsh, S. B., Hamilton, S. R., Offerhaus, G. J. A., Gittelsohn, A. M., Booker, S. V., Krush, A. J., Yardley, J. H., Luk, G. D. <strong>Increased risk of cancer in the Peutz-Jeghers syndrome.</strong> New Eng. J. Med. 316: 1511-1514, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3587280/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3587280</a>] [<a href="https://doi.org/10.1056/NEJM198706113162404" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3587280">Giardiello et al. (1987)</a> investigated the occurrence of cancer in 31 patients with PJS followed from 1973 to 1985. Gastrointestinal carcinoma developed in 4, nongastrointestinal carcinoma in 10, and multiple myeloma in 1. Adenomatous polyps of the stomach and colon occurred in 3 other patients. There were 4 cases of pancreatic cancer. <a href="#27" class="mim-tip-reference" title="Foley, T. R., McGarrity, T. J., Abt, A. B. <strong>Peutz-Jeghers syndrome: a clinicopathologic survey of the 'Harrisburg family' with a 49-year follow-up.</strong> Gastroenterology 95: 1535-1540, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3181678/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3181678</a>] [<a href="https://doi.org/10.1016/s0016-5085(88)80074-x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3181678">Foley et al. (1988)</a> provided a 49-year follow-up of the 'Harrisburg family,' 3 affected members of which were reported by <a href="#37" class="mim-tip-reference" title="Jeghers, H., McKusick, V. A., Katz, K. H. <strong>Generalized intestinal polyposis and melanin spots of the oral mucosa, lips and digits.</strong> New Eng. J. Med. 241: 993-1005 and 1031-1036, 1949.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15399020/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15399020</a>] [<a href="https://doi.org/10.1056/NEJM194912222412501" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15399020">Jeghers et al. (1949)</a>. The family had also been studied earlier by <a href="#8" class="mim-tip-reference" title="Bartholomew, L. G., Moore, C., Dahlin, D. C., Waugh, J. M. <strong>Intestinal polyposis associated with mucocutaneous pigmentation.</strong> Surg. Gynec. Obstet. 115: 1-11, 1962.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13865437/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13865437</a>]" pmid="13865437">Bartholomew et al. (1962)</a>. In all, 12 affected members have been identified, making this the largest PJS kindred reported. One member of the family had developed a duodenal carcinoma and a hamartoma with adenomatous changes. Another member developed short bowel syndrome. In the follow-up of 72 patients with PJS in the St. Mark's Polyposis Registry, <a href="#73" class="mim-tip-reference" title="Spigelman, A. D., Murday, V., Phillips, R. K. S. <strong>Cancer and the Peutz-Jeghers syndrome.</strong> Gut 30: 1588-1590, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2599445/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2599445</a>] [<a href="https://doi.org/10.1136/gut.30.11.1588" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2599445">Spigelman et al. (1989)</a> found that malignant tumors had developed in 16 (22%), of whom all but 1 had died. There were 9 gastrointestinal and 7 nongastrointestinal tumors. The chance of dying of cancer by age 57 was 48%. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=3181678+15399020+3587280+13865437+2599445" 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="#79" class="mim-tip-reference" title="Westerman, A. M., Wilson, J. H. P. <strong>Peutz-Jeghers syndrome: risks of a hereditary condition. A clinical review.</strong> Scand. J. Gastroent. Suppl. 230: 64-70, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10499464/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10499464</a>] [<a href="https://doi.org/10.1080/003655299750025561" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10499464">Westerman and Wilson (1999)</a> reviewed the literature on PJS, with particular emphasis on the risks for PJS gene carriers. The risks imposed by polyps included surgical emergencies like small bowel intussusception, and chronic or acute bleeding from the polyps. Many reports, however, suggested an association of PJS with both gastrointestinal and nongastrointestinal malignancies, often at a young age. The frequent occurrence of rare tumors of the ovary, cervix, and testis indicated a general susceptibility for the development of malignancies. The PJS gene was therefore thought to act as a tumor suppressor gene. The authors suggested that a surveillance protocol should be developed for the prevention of cancer in PJS. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10499464" 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>Unusually early age of onset was observed by <a href="#26" class="mim-tip-reference" title="Fernandez Seara, M. J., Martinez Soto, M. I., Fernandez Lorenzo, J. R., Trabazo, S., Gamborino, E., Forteza Vila, J. <strong>Peutz-Jeghers syndrome in a neonate.</strong> J. Pediat. 126: 965-967, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7776109/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7776109</a>] [<a href="https://doi.org/10.1016/s0022-3476(95)70224-5" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7776109">Fernandez Seara et al. (1995)</a> in a 15-day-old girl who was found to have generalized gastrointestinal polyposis manifested by abdominal distention, hematemesis, bloody diarrhea, and edema. At 15 days of age, ileocecal intussusception causing intestinal obstruction was diagnosed radiologically and reduced by hydrostatic enema; ileocecal surgical resection was required, however. Rectal prolapse due to a large polyp occurred at one month of age. Esophagogastroscopy showed polyps in the stomach; one in the antrum partially obstructed the lumen. No hyperpigmentation of the lips or oral mucosa was observed at any time and none was present in her relatives. The histologic appearance of the polyps removed during life and at autopsy was consistent with Peutz-Jeghers syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7776109" 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="#31" class="mim-tip-reference" title="Gruber, S. B., Entius, M. M., Petersen, G. M., Laken, S. J., Longo, P. A., Boyer, R., Levin, A. M., Mujumdar, U. J., Trent, J. M., Kinzler, K. W., Vogelstein, B., Hamilton, S. R., Polymeropoulos, M. H., Offerhaus, G. J., Giardiello, F. M. <strong>Pathogenesis of adenocarcinoma in Peutz-Jeghers syndrome.</strong> Cancer Res. 58: 5267-5270, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9850045/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9850045</a>]" pmid="9850045">Gruber et al. (1998)</a> noted that the histopathologic appearance of hamartomas in PJS is distinct from that of other types of gastrointestinal polyps and likely reflects a different pathogenetic sequence for their development. PJS hamartomas show an elongated, frond-like epithelium with cystic dilatation of glands overlying an arborizing network of smooth muscle bundles. Hypermucinous goblet cells are often prominent. In addition, pseudoinvasion by histopathologically benign epithelium is common in PJS hamartomas. These characteristic features are easily distinguished from the cytologic atypia and lack of differentiation seen in typical adenomas, and it is not surprising that PJS tumors seem to share few of the earliest genetic events observed in the transition of normal epithelium to dysplastic adenomas. Hamartomatous polyps arising in the juvenile polyposis syndrome (<a href="/entry/174900">174900</a>) originate through yet another mechanism as a consequence of germline mutations in the SMAD4/DPC4 gene (<a href="/entry/600993">600993</a>). The hamartomas of juvenile polyposis are histologically distinct from those of PJS, and the risk of malignancy also differs in these 2 syndromes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9850045" 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>Some patients with PJS may be disturbed by the appearance of lentigines. <a href="#43" class="mim-tip-reference" title="Kato, S., Takeyama, J., Tanita, Y., Ebina, K. <strong>Ruby laser therapy for labial lentigines in Peutz-Jeghers syndrome.</strong> Europ. J. Pediat. 157: 622-624, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9727843/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9727843</a>] [<a href="https://doi.org/10.1007/s004310050898" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9727843">Kato et al. (1998)</a> described ruby laser therapy of labial lentigines in 2 children with this disorder. They stated that the response to treatment was excellent, with no sequelae or recurrence of the lesions. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9727843" 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="#10" class="mim-tip-reference" title="Boardman, L. A., Couch, F. J., Burgart, L. J., Schwartz, D., Berry, R., McDonnell, S. K., Schaid, D. J., Hartmann, L. C., Schroeder, J. J., Stratakis, C. A., Thibodeau, S. N. <strong>Genetic heterogeneity in Peutz-Jeghers syndrome.</strong> Hum. Mutat. 16: 23-30, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10874301/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10874301</a>] [<a href="https://doi.org/10.1002/1098-1004(200007)16:1<23::AID-HUMU5>3.0.CO;2-M" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10874301">Boardman et al. (2000)</a> pointed out that diagnosing PJS, even in an individual from a known PJS kindred, can be difficult. Oral pigmentation tends to fade and be forgotten with time, and polyps can often be asymptomatic. Additionally, other syndromes may mimic the pigmentation of PJS, occurring in individuals with an occult malignancy (<a href="#5" class="mim-tip-reference" title="Babin, R. W., Ceilley, R. I., DeSanto, L. W. <strong>Oral hyperpigmentation and occult malignancy: report of a case.</strong> J. Otolaryng. 7: 389-394, 1978.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/739570/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">739570</a>]" pmid="739570">Babin et al., 1978</a>; <a href="#23" class="mim-tip-reference" title="Eng, A., Armin, A., Massa, M., Gradini, R. <strong>Peutz-Jeghers-like melanotic macules associated with esophageal adenocarcinoma.</strong> Am. J. Dermatopath. 13: 152-157, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2029089/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2029089</a>] [<a href="https://doi.org/10.1097/00000372-199104000-00008" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2029089">Eng et al., 1991</a>; <a href="#28" class="mim-tip-reference" title="Gass, J. D., Glatzer, R. J. <strong>Acquired pigmentation simulating Peutz-Jeghers syndrome: initial manifestation of diffuse uveal melanocytic proliferation.</strong> Brit. J. Ophthal. 75: 693-695, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1751469/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1751469</a>] [<a href="https://doi.org/10.1136/bjo.75.11.693" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1751469">Gass and Glatzer, 1991</a>) or in individuals with Laugier-Hunziker syndrome, a condition characterized by oral hyperpigmentation without polyposis (<a href="#75" class="mim-tip-reference" title="Veraldi, S., Cavicchini, S., Benelli, C., Gasparini, G. <strong>Laugier-Hunziker syndrome: a clinical, histopathologic, and ultrastructural study of four cases and review of the literature.</strong> J. Am. Acad. Derm. 25: 632-636, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1791220/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1791220</a>] [<a href="https://doi.org/10.1016/0190-9622(91)70244-v" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1791220">Veraldi et al., 1991</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=739570+2029089+1751469+1791220+10874301" 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>Familial hamartomatous polyps of the small intestine resembling those of PJS were recognized as a feature of Bannayan-Zonana syndrome (BRRS; see <a href="/entry/158350">158350</a>), which is caused by mutation in the PTEN gene (<a href="/entry/601728">601728</a>), by <a href="#20" class="mim-tip-reference" title="DiLiberti, J. H., Weleber, R. G., Budden, S. <strong>Ruvalcaba-Myhre-Smith syndrome: a case with probable autosomal-dominant inheritance and additional manifestations.</strong> Am. J. Med. Genet. 15: 491-495, 1983.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6881215/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6881215</a>] [<a href="https://doi.org/10.1002/ajmg.1320150315" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6881215">DiLiberti et al. (1983)</a> and others. Pigmented spots occur also in BRRS but characteristically on the glans penis in males and not on the lips. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6881215" 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 connection with the possibility that the melanin spots of the lips represent a benign neoplasm, the observations of <a href="#37" class="mim-tip-reference" title="Jeghers, H., McKusick, V. A., Katz, K. H. <strong>Generalized intestinal polyposis and melanin spots of the oral mucosa, lips and digits.</strong> New Eng. J. Med. 241: 993-1005 and 1031-1036, 1949.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15399020/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15399020</a>] [<a href="https://doi.org/10.1056/NEJM194912222412501" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15399020">Jeghers et al. (1949)</a> may be significant: clinically, some of the spots could be seen to have a somewhat stippled appearance under magnification, which, it was thought, could be explained by a curious histologic pattern observed on biopsy. The pigmentation occurred mainly in vertical bands interrupted by unpigmented areas. The change suggested the possibility of clonality. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15399020" 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>The transmission pattern of PJS in the 3-generation family reported by <a href="#38" class="mim-tip-reference" title="Jenne, D. E., Reimann, H., Nezu, J., Friedel, W., Loff, S., Jeschke, R., Muller, O., Back, W., Zimmer, M. <strong>Peutz-Jeghers syndrome is caused by mutations in a novel serine threonine kinase.</strong> Nature Genet. 18: 38-43, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9425897/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9425897</a>] [<a href="https://doi.org/10.1038/ng0198-38" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9425897">Jenne et al. (1998)</a> was consistent with autosomal dominant inheritance. The heterozygous mutations in the STK11 gene that were identified by <a href="#38" class="mim-tip-reference" title="Jenne, D. E., Reimann, H., Nezu, J., Friedel, W., Loff, S., Jeschke, R., Muller, O., Back, W., Zimmer, M. <strong>Peutz-Jeghers syndrome is caused by mutations in a novel serine threonine kinase.</strong> Nature Genet. 18: 38-43, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9425897/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9425897</a>] [<a href="https://doi.org/10.1038/ng0198-38" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9425897">Jenne et al. (1998)</a> in 2 patients with PJS occurred de novo. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9425897" 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>Studying 2 extended families, <a href="#6" class="mim-tip-reference" title="Bali, D., Gourley, I. S., McGarrity, T. J., Spencer, C. A., Howard, L., Frazier, M. L., Lynch, P. M., Seldin, M. F., Amos, C. I. <strong>Peutz-Jeghers syndrome maps to chromosome 1p. (Abstract)</strong> Am. J. Hum. Genet. 57 (supp.): A186 only, 1995."None>Bali et al. (1995)</a> found positive evidence for linkage with several microsatellite markers on chromosome 1. <a href="#68" class="mim-tip-reference" title="Seldin, M. F. <strong>Personal Communication.</strong> Davis, Calif. 1/18/1997."None>Seldin (1997)</a> reported that addition of more family members in the 2 largest families decreased the lod scores substantially as did the addition of more markers in the region. Indeed, in the original study, the maximum 2-point lod was below 2.0. Multipoint linkage analysis yielded a maximum lod score of 4.00 at D1S220. This is located in the distal region of 1p, where the human homolog of the putative modifier of multiple intestinal neoplasias (<a href="/entry/172411">172411</a>) had previously been mapped.</p><p>In a patient with Peutz-Jeghers syndrome, <a href="#51" class="mim-tip-reference" title="Markie, D., Huson, S., Maher, E., Davies, A., Tomlinson, I., Bodmer, W. F. <strong>A pericentric inversion of chromosome six in a patient with Peutz-Jeghers' syndrome and the use of FISH to localise the breakpoints on a genetic map.</strong> Hum. Genet. 98: 125-128, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8698325/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8698325</a>] [<a href="https://doi.org/10.1007/s004390050173" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8698325">Markie et al. (1996)</a> demonstrated a pericentric inversion in chromosome 6. Using fluorescence in situ hybridization with YAC clones selected to contain genetic markers from chromosome 6 and with a probe for the centromeric alphoid array, they located 1 inversion breakpoint within the alphoid repeat array, in a 1-cM interval between D6S257 and D6S402, and the other in a 4-cM interval between D6S403 and D6S311. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8698325" 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>To localize the susceptibility locus for Peutz-Jeghers syndrome, <a href="#33" class="mim-tip-reference" title="Hemminki, A., Tomlinson, I., Markie, D., Jarvinen, H., Sistonen, P., Bjorkqvist, A.-M., Knuutila, S., Salovaara, R., Bodmer, W., Shibata, D., de la Chapelle, A., Aaltonen, L. A. <strong>Localization of a susceptibility locus for Peutz-Jeghers syndrome to 19p using comparative genomic hybridization and targeted linkage analysis.</strong> Nature Genet. 15: 87-90, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8988175/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8988175</a>] [<a href="https://doi.org/10.1038/ng0197-87" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8988175">Hemminki et al. (1997)</a> used comparative genomic hybridization (CGH) and targeted linkage analysis, combined with loss of heterozygosity (LOH) study. They demonstrated a high-penetrance locus in distal 19p with a multipoint lod score of 7.00 at marker D19S886 without evidence of genetic heterogeneity. The study demonstrated the power of CGH combined with LOH analysis in identifying putative tumor suppressor loci. In comparative genomic hybridization, a single hybridization allows DNA copy number changes in the whole genome of a tumor to be assessed in comparison with normal tissue DNA (<a href="#42" class="mim-tip-reference" title="Kallioniemi, A., Kallioniemi, O. P., Sudar, D., Rutovitz, D., Gray, J. W., Waldmann, F., Pinkel, D. <strong>Comparative genomic hybridization for molecular cytogenetic analysis of solid tumors.</strong> Science 258: 818-821, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1359641/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1359641</a>] [<a href="https://doi.org/10.1126/science.1359641" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1359641">Kallioniemi et al., 1992</a>). The findings of <a href="#33" class="mim-tip-reference" title="Hemminki, A., Tomlinson, I., Markie, D., Jarvinen, H., Sistonen, P., Bjorkqvist, A.-M., Knuutila, S., Salovaara, R., Bodmer, W., Shibata, D., de la Chapelle, A., Aaltonen, L. A. <strong>Localization of a susceptibility locus for Peutz-Jeghers syndrome to 19p using comparative genomic hybridization and targeted linkage analysis.</strong> Nature Genet. 15: 87-90, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8988175/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8988175</a>] [<a href="https://doi.org/10.1038/ng0197-87" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8988175">Hemminki et al. (1997)</a> suggested that in most or all of the families they studied, the PJS was caused by a defect in a single locus on 19p. That the Peutz-Jeghers syndrome is genetically homogeneous required, however, confirmation by linkage analysis in further families. <a href="#2" class="mim-tip-reference" title="Amos, C. I., Bali, D., Thiel, T. J., Anderson, J. P., Gourley, I., Frazier, M. L., Lynch, P. M., Luchtefeld, M. A., Young, A., McGarrity, T. J., Seldin, M. F. <strong>Fine mapping of a genetic locus for Peutz-Jeghers syndrome on chromosome 19p.</strong> Cancer Res. 57: 3653-3656, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9288765/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9288765</a>]" pmid="9288765">Amos et al. (1997)</a> confirmed the mapping of PJS to the telomeric region of 19p. In the 5 families examined, there were no recombinants with the marker D19S886. The multipoint lod score at D19S886 was 7.52, and they found no evidence for genetic heterogeneity or of reduced penetrance. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=9288765+8988175+1359641" 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="#56" class="mim-tip-reference" title="Mehenni, H., Blouin, J.-L., Radhakrishna, U., Bhardwaj, S. S., Bhardwaj, K., Dixit, V. B., Richards, K. F., Bermejo-Fenoll, A., Leal, A. S., Raval, R. C., Antonarakis, S. E. <strong>Peutz-Jeghers syndrome: confirmation of linkage to chromosome 19p13.3 and identification of a potential second locus, on 19p13.4.</strong> Am. J. Hum. Genet. 61: 1327-1334, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9399902/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9399902</a>] [<a href="https://doi.org/10.1086/301644" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9399902">Mehenni et al. (1997)</a> performed a genomewide linkage analysis, using DNA polymorphisms in 6 families (2 from Spain, 2 from India, 1 from the U.S., and 1 from Portugal), including 39 affected individuals and 6 individuals of unknown status. Marker D19S886 yielded a maximum lod score of 4.74 at a recombination fraction of 0.45; multipoint linkage analysis resulted in a lod score of 7.51 for the interval between D19S886 and 19pter. However, markers on 19q13.4 also showed significant evidence for linkage. For example, D19S880 resulted in a maximum lod score of 3.8 at theta = 0.13. Most of this positive linkage was contributed by a single family. Thus, the results confirmed the mapping of a common PJS locus on 19p13.3, but also suggested the existence, in a minority of families, of a potential PJS locus on 19q13.4. <a href="#14" class="mim-tip-reference" title="Buchet-Poyau, K., Mehenni, H., Radhakrishna, U., Antonarakis, S. E. <strong>Search for the second Peutz-Jeghers syndrome locus: exclusion of the STK13, PRKCG, KLK10, and PSCD2 genes on chromosome 19 and the STK11IP gene on chromosome 2.</strong> Cytogenet. Genome Res. 97: 171-178, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12438709/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12438709</a>] [<a href="https://doi.org/10.1159/000066620" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12438709">Buchet-Poyau et al. (2002)</a> excluded several candidate genes as a second PJS locus in the 19q13.3-q13.4 region. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=12438709+9399902" 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>Within a distance of 190 kb proximal to D19S886, the marker with the highest lod score in the study of <a href="#33" class="mim-tip-reference" title="Hemminki, A., Tomlinson, I., Markie, D., Jarvinen, H., Sistonen, P., Bjorkqvist, A.-M., Knuutila, S., Salovaara, R., Bodmer, W., Shibata, D., de la Chapelle, A., Aaltonen, L. A. <strong>Localization of a susceptibility locus for Peutz-Jeghers syndrome to 19p using comparative genomic hybridization and targeted linkage analysis.</strong> Nature Genet. 15: 87-90, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8988175/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8988175</a>] [<a href="https://doi.org/10.1038/ng0197-87" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8988175">Hemminki et al. (1997)</a>, <a href="#38" class="mim-tip-reference" title="Jenne, D. E., Reimann, H., Nezu, J., Friedel, W., Loff, S., Jeschke, R., Muller, O., Back, W., Zimmer, M. <strong>Peutz-Jeghers syndrome is caused by mutations in a novel serine threonine kinase.</strong> Nature Genet. 18: 38-43, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9425897/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9425897</a>] [<a href="https://doi.org/10.1038/ng0198-38" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9425897">Jenne et al. (1998)</a> identified and characterized a novel human gene encoding the serine/threonine kinase STK11. In a 3-generation PJS family, they found an STK11 allele with a deletion of exons 4 and 5 and an inversion of exons 6 and 7 (<a href="/entry/602216#0001">602216.0001</a>) segregating with the disease. Sequence analysis of STK11 exons in 4 unrelated PJS patients identified 3 nonsense mutations (<a href="/entry/602216#0002">602216.0002</a>, <a href="/entry/602216#0003">602216.0003</a>, <a href="/entry/602216#0004">602216.0004</a>) and 1 acceptor splice site mutation (<a href="/entry/602216#0005">602216.0005</a>). All 5 germline mutations were predicted to disrupt the function of the kinase domain. <a href="#38" class="mim-tip-reference" title="Jenne, D. E., Reimann, H., Nezu, J., Friedel, W., Loff, S., Jeschke, R., Muller, O., Back, W., Zimmer, M. <strong>Peutz-Jeghers syndrome is caused by mutations in a novel serine threonine kinase.</strong> Nature Genet. 18: 38-43, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9425897/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9425897</a>] [<a href="https://doi.org/10.1038/ng0198-38" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9425897">Jenne et al. (1998)</a> concluded that germline mutations in STK11, probably in conjunction with acquired genetic defects of the second allele in somatic cells, caused the manifestations of PJS. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=9425897+8988175" 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>Independently and simultaneously, <a href="#32" class="mim-tip-reference" title="Hemminki, A., Markie, D., Tomlinson, I., Avizienyte, E., Roth, S., Loukola, A., Bignell, G., Warren, W., Aminoff, M., Hoglund, P., Jarvinen, H., Kristo, P., Pelin, K., Ridanpaa, M., Salovaara, R., Toro, T., Bodmer, W., Olschwang, S., Olsen, A. S., Stratton, M. R., de la Chapelle, A., Aaltonen, L. A. <strong>A serine/threonine kinase gene defective in Peutz-Jeghers syndrome.</strong> Nature 391: 184-187, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9428765/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9428765</a>] [<a href="https://doi.org/10.1038/34432" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9428765">Hemminki et al. (1998)</a>, the group that identified the linkage of PJS to chromosome 19, demonstrated mutations in the serine/threonine kinase gene in 11 of 12 unrelated patients with PJS. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9428765" 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="#39" class="mim-tip-reference" title="Jenne, D. E. <strong>Personal Communication.</strong> Munich, Germany 1/8/1998."None>Jenne (1998)</a> speculated that cellular context between melanocytes and keratinocytes are regulated by STK11 activity. He pointed to the wide tissue distribution of STK11 and suggested that effects in melanocytes may be observed preferentially at sites of mechanical and physical stress.</p><p><a href="#31" class="mim-tip-reference" title="Gruber, S. B., Entius, M. M., Petersen, G. M., Laken, S. J., Longo, P. A., Boyer, R., Levin, A. M., Mujumdar, U. J., Trent, J. M., Kinzler, K. W., Vogelstein, B., Hamilton, S. R., Polymeropoulos, M. H., Offerhaus, G. J., Giardiello, F. M. <strong>Pathogenesis of adenocarcinoma in Peutz-Jeghers syndrome.</strong> Cancer Res. 58: 5267-5270, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9850045/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9850045</a>]" pmid="9850045">Gruber et al. (1998)</a> studied 6 families with PJS from the Johns Hopkins Polyposis Registry to identify the molecular basis of PJS and to characterize the pathogenesis of gastrointestinal hamartomas and adenocarcinomas in these patients. Linkage analysis in the family studied by McKusick, who contributed to the publication of <a href="#37" class="mim-tip-reference" title="Jeghers, H., McKusick, V. A., Katz, K. H. <strong>Generalized intestinal polyposis and melanin spots of the oral mucosa, lips and digits.</strong> New Eng. J. Med. 241: 993-1005 and 1031-1036, 1949.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15399020/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15399020</a>] [<a href="https://doi.org/10.1056/NEJM194912222412501" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15399020">Jeghers et al. (1949)</a>, and in 5 other families confirmed linkage to 19p13.3. Germline mutations in STK11 were identified in all 6 families by sequencing genomic DNA. Analysis of hamartomas and adenocarcinomas from patients with PJS identified LOH of 19p markers near STK11 in 70% of tumors. Haplotype analysis indicated that the retained allele carried a germline mutation (<a href="/entry/602216#0012">602216.0012</a>), confirming that STK11 is a tumor suppressor gene. LOH of 17p and 18q was identified in an adenocarcinoma but not in hamartomas, implying that allelic loss of these 2 regions corresponds to late molecular events in the pathogenesis of cancer in PJS. The adenocarcinomas showing 17p LOH also demonstrated altered p53 by immunohistochemistry. None of the 18 PJS tumors showed microsatellite instability, LOH on 5q near APC (<a href="/entry/611731">611731</a>), or mutations in codons 12 or 13 of the KRAS2 (<a href="/entry/190070">190070</a>) protooncogene. These data provided evidence that STK11 is a tumor suppressor gene that acts as an early gatekeeper regulating the development of hamartomas in PJS and suggested that hamartomas may be pathogenetic precursors of adenocarcinoma. Additional somatic mutation events underlie the progression of hamartomas to adenocarcinomas, and some of these somatic mutations are common to the later stages of tumor progression seen in the majority of colorectal carcinomas. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=15399020+9850045" 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="#59" class="mim-tip-reference" title="Miyaki, M., Iijima, T., Hosono, K., Ishii, R., Yasuno, M., Mori, T., Toi, M., Hishima, T., Shitara, N., Tamura, K., Utsunomiya, J., Kobayashi, N., Kuroki, T., Iwama, T. <strong>Somatic mutations of LKB1 and beta-catenin genes in gastrointestinal polyps from patients with Peutz-Jeghers syndrome.</strong> Cancer Res. 60: 6311-6313, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11103790/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11103790</a>]" pmid="11103790">Miyaki et al. (2000)</a> presented findings suggesting that gastrointestinal hamartomatous polyps in PJS patients develop through inactivation of the STK11 gene by germline mutation plus somatic mutation or LOH of the unaffected STK11 allele, and that additional mutations of the beta-catenin gene (CTNNB1; <a href="/entry/116806">116806</a>) and the p53 gene (TP53; <a href="/entry/191170">191170</a>) convert hamartomatous polyps into adenomatous and carcinomatous lesions. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11103790" 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="#77" class="mim-tip-reference" title="Westerman, A. M., Entius, M. M., Boor, P. P. C., Koole, R., de Baar, E., Offerhaus, G. J. A., Lubinski, J., Lindhout, D., Halley, D. J. J., de Rooij, F. W. M., Wilson, J. H. P. <strong>Novel mutations in the LKB1/STK11 gene in Dutch Peutz-Jeghers families.</strong> Hum. Mutat. 13: 476-481, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10408777/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10408777</a>] [<a href="https://doi.org/10.1002/(SICI)1098-1004(1999)13:6<476::AID-HUMU7>3.0.CO;2-2" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10408777">Westerman et al. (1999)</a> found novel STK11 mutations in 12 of 19 predominantly Dutch families with PJS. No mutation was found in the remaining 7 families. None of the mutations occurred in more than 1 family, and a number were demonstrated to have arisen de novo. The likelihood of locus heterogeneity was raised. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10408777" 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="#40" class="mim-tip-reference" title="Jiang, C.-Y., Esufali, S., Berk, T., Gallinger, S., Cohen, Z., Tobi, M., Redston, M., Bapat, B. <strong>STK11/LKB1 germline mutations are not identified in most Peutz-Jeghers syndrome patients.</strong> Clin. Genet. 56: 136-141, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10517250/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10517250</a>] [<a href="https://doi.org/10.1034/j.1399-0004.1999.560207.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10517250">Jiang et al. (1999)</a> conducted a detailed investigation of germline STK11 alterations by protein truncation test and genomic DNA sequence analysis in 10 unrelated PJS families. A novel truncating deletion in a single patient and several known polymorphisms were identified. The results suggested that STK11 mutations account for only some cases of PJS. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10517250" 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="#10" class="mim-tip-reference" title="Boardman, L. A., Couch, F. J., Burgart, L. J., Schwartz, D., Berry, R., McDonnell, S. K., Schaid, D. J., Hartmann, L. C., Schroeder, J. J., Stratakis, C. A., Thibodeau, S. N. <strong>Genetic heterogeneity in Peutz-Jeghers syndrome.</strong> Hum. Mutat. 16: 23-30, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10874301/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10874301</a>] [<a href="https://doi.org/10.1002/1098-1004(200007)16:1<23::AID-HUMU5>3.0.CO;2-M" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10874301">Boardman et al. (2000)</a> searched for mutations in the STK11 gene in 5 kindreds with more than 2 family members affected by PJS, 5 PJS probands with only 1 other affected family member, and 23 individuals with sporadic PJS. Conformation-sensitive gel electrophoresis was used for the initial screen, followed by direct sequence analysis for characterization. Long-range PCR was used for the detection of larger genetic insertions or deletions. Genetic alterations in the gene were found in 2 probands who had a family history of PJS. Mutations were detected in the gene in only 4 of the 23 patients with sporadic PJS. The authors interpreted these data as suggesting the presence of significant genetic heterogeneity in PJS and the involvement of other loci in this syndrome. They pointed to the report by <a href="#56" class="mim-tip-reference" title="Mehenni, H., Blouin, J.-L., Radhakrishna, U., Bhardwaj, S. S., Bhardwaj, K., Dixit, V. B., Richards, K. F., Bermejo-Fenoll, A., Leal, A. S., Raval, R. C., Antonarakis, S. E. <strong>Peutz-Jeghers syndrome: confirmation of linkage to chromosome 19p13.3 and identification of a potential second locus, on 19p13.4.</strong> Am. J. Hum. Genet. 61: 1327-1334, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9399902/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9399902</a>] [<a href="https://doi.org/10.1086/301644" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9399902">Mehenni et al. (1997)</a> of a possible second susceptibility locus on 19q in 2 PJS Indian families and to that by <a href="#61" class="mim-tip-reference" title="Olschwang, S., Markie, D., Seal, S., Neale, K., Phillips, R., Cottrell, S., Ellis, I., Hodgson, S., Zauber, P., Spigelman, A., Iwama, T., Loff, S., McKeown, C., Marchese, C., Sampson, J., Davies, S., Talbot, I., Wyke, J., Thomas, G., Bodmer, W., Hemminki, A., Avizienyte, E., de la Chapelle, A., Aaltonen, L., Tomlinson, I. <strong>Peutz-Jeghers disease: most, but not all, families are compatible with linkage to 19p13.3.</strong> J. Med. Genet. 35: 42-44, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9475093/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9475093</a>] [<a href="https://doi.org/10.1136/jmg.35.1.42" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9475093">Olschwang et al. (1998)</a>, in which no evidence of linkage was found in 3 of 20 PJS kindreds. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=9399902+9475093+10874301" 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="#60" class="mim-tip-reference" title="Olschwang, S., Boisson, C., Thomas, G. <strong>Peutz-Jeghers families unlinked to STK11/LKB1 gene mutations are highly predisposed to primitive biliary adenocarcinoma.</strong> J. Med. Genet. 38: 356-360, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11389158/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11389158</a>] [<a href="https://doi.org/10.1136/jmg.38.6.356" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11389158">Olschwang et al. (2001)</a> studied 34 families with PJS. Mutations in the STK11 gene were identified in 24 families. In the 10 families in which mutations were not identified, there was a significantly increased risk of proximal biliary adenocarcinoma. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11389158" 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="#78" class="mim-tip-reference" title="Westerman, A. M., Entius, M. M., de Baar, E., Boor, P. P. C., Koole, R., van Velthuysen, M. L. F., Offerhaus, G. J. A., Lindhout, D., de Rooij, F. W. M., Wilson, J. H. P. <strong>Peutz-Jeghers syndrome: 78-year follow-up of the original family.</strong> Lancet 353: 1211-1215, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10217080/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10217080</a>] [<a href="https://doi.org/10.1016/s0140-6736(98)08018-0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10217080">Westerman et al. (1999)</a> traced the Dutch family reported by <a href="#64" class="mim-tip-reference" title="Peutz, J. L. A. <strong>Very remarkable case of familial polyposis of mucous membrane of intestinal tract and nasopharynx accompanied by peculiar pigmentations of skin and mucous membrane. (Dutch).</strong> Nederl. Maandschr. Geneesk. 10: 134-146, 1921."None>Peutz (1921)</a> and determined that the affected members carried a previously unidentified germline mutation in the STK11 gene (<a href="/entry/602216#0014">602216.0014</a>). The pedigree, published by <a href="#78" class="mim-tip-reference" title="Westerman, A. M., Entius, M. M., de Baar, E., Boor, P. P. C., Koole, R., van Velthuysen, M. L. F., Offerhaus, G. J. A., Lindhout, D., de Rooij, F. W. M., Wilson, J. H. P. <strong>Peutz-Jeghers syndrome: 78-year follow-up of the original family.</strong> Lancet 353: 1211-1215, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10217080/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10217080</a>] [<a href="https://doi.org/10.1016/s0140-6736(98)08018-0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10217080">Westerman et al. (1999)</a>, showed affected individuals in 4 generations and, by inference, in an earlier fifth generation. In total, 22 persons (9 females and 13 males) were affected and 31 were unaffected. Nasal polyposis was present in 2 members of 1 generation and in 4 members of another. Colicky abdominal pain occurred in all 22 affected members, paralytic ileus in 16, chronic anemia in 9, and acute or chronic blood loss in 14. Rectal prolapse due to polyps occurred in 7. In 4 patients, the nasal polyposis was severe, obstructing the nasal cavity and sinuses, requiring repeated surgery. In 1 woman who had had extremely severe nasal polyposis since childhood, a squamous cell carcinoma of the nasal cavity developed. She died of this tumor 4 years later. Three of the 5 cases of gastrointestinal cancer were in the colon, 1 was in the stomach, and 1 was of unknown primary origin. Breast cancer occurred in a female patient at the age of 47 years. Premenopausal breast cancer was diagnosed in a sib at the age of 44; it was not known whether this patient was affected by PJS. No other cancers of the reproductive tract were found in this family. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10217080" 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="#46" class="mim-tip-reference" title="Keller, J. J., Westerman, A. M., de Rooij, F. W. M., Wilson, J. H. P., van Dekken, H., Giardiello, F. M., Weterman, M. A. J., Offerhaus, G. J. A. <strong>Molecular genetic evidence of an association between nasal polyposis and the Peutz-Jeghers syndrome. (Letter)</strong> Ann. Intern. Med. 136: 854-855, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12044140/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12044140</a>] [<a href="https://doi.org/10.7326/0003-4819-136-11-200206040-00020" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12044140">Keller et al. (2002)</a> reported molecular genetic evidence of an association between nasal polyposis and PJS. They studied 12 nasal polyps from 4 patients with PJS who came from 3 families with known germline mutations in STK11, and 28 sporadic nasal polyps from 28 subjects without evidence of PJS, Kartagener syndrome (<a href="/entry/244400">244400</a>), cystic fibrosis (CF; <a href="/entry/219700">219700</a>), or aspirin sensitivity. In 2 unrelated patients with PJS, 4 of 8 nasal polyps showed loss of heterozygosity at 19p13.3. In contrast, loss of heterozygosity was not found in 23 sporadic nasal polyps. Haplotype analysis showed that loss of heterozygosity comprised deletion of the wildtype allele. Loss of heterozygosity at 19p13.3 in nasal polyps of affected patients corresponded with reports of loss of heterozygosity in gastrointestinal hamartomatous polyps (<a href="#24" class="mim-tip-reference" title="Entius, M. M., Keller, J. J., Westerman, A. M., van Rees, B. P., van Velthuysen, M.-L. F., de Goeij, A. F. P. M., Wilson, J. H. P., Giardiello, F. M., Offerhaus, G. J. A. <strong>Molecular genetic alterations in hamartomatous polyps and carcinomas of patients with Peutz-Jeghers syndrome.</strong> J. Clin. Path. 54: 126-131, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11215281/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11215281</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=11215281[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/jcp.54.2.126" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11215281">Entius et al., 2001</a>). In his original publication, <a href="#64" class="mim-tip-reference" title="Peutz, J. L. A. <strong>Very remarkable case of familial polyposis of mucous membrane of intestinal tract and nasopharynx accompanied by peculiar pigmentations of skin and mucous membrane. (Dutch).</strong> Nederl. Maandschr. Geneesk. 10: 134-146, 1921."None>Peutz (1921)</a> suggested that nasal polyps represent an extraintestinal manifestation of PJS. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=12044140+11215281" 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="#48" class="mim-tip-reference" title="Le Meur, N., Martin, C., Saugier-Veber, P., Joly, G., Lemoine, F., Moirot, H., Rossi, A., Bachy, B., Cabot, A., Joly, P., Frebourg, T. <strong>Complete germline deletion of the STK11 gene in a family with Peutz-Jeghers syndrome.</strong> Europ. J. Hum. Genet. 12: 415-418, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14970844/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14970844</a>] [<a href="https://doi.org/10.1038/sj.ejhg.5201155" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14970844">Le Meur et al. (2004)</a> reported a family with typical features of PJS, including melanin spots of the oral mucosa, gastrointestinal hamartomatous polyps, and breast and colon cancer. The authors noted that the proband had neurofibromatosis type I (<a href="/entry/162200">162200</a>) of paternal origin as well as PJS of maternal origin. Using quantitative multiplex PCR of short fluorescent fragments of the 19p13 region, they identified an approximately 250-kb heterozygous deletion that completely removed the STK11 locus. <a href="#48" class="mim-tip-reference" title="Le Meur, N., Martin, C., Saugier-Veber, P., Joly, G., Lemoine, F., Moirot, H., Rossi, A., Bachy, B., Cabot, A., Joly, P., Frebourg, T. <strong>Complete germline deletion of the STK11 gene in a family with Peutz-Jeghers syndrome.</strong> Europ. J. Hum. Genet. 12: 415-418, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14970844/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14970844</a>] [<a href="https://doi.org/10.1038/sj.ejhg.5201155" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14970844">Le Meur et al. (2004)</a> stated that this was the first report of a complete germline deletion of STK11 and suggested that the presence of such large genomic deletions should be considered in PJS families without detectable point mutations of STK11. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14970844" 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="#3" class="mim-tip-reference" title="Amos, C. I., Keitheri-Cheteri, M. B., Sabripour, M., Wei, C., McGarrity, T. J., Seldin, M. F., Nations, L., Lynch, P. M., Fidder, H. H., Friedman, E., Frazier, M. L. <strong>Genotype-phenotype correlations in Peutz-Jeghers syndrome.</strong> J. Med. Genet. 41: 327-333, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15121768/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15121768</a>] [<a href="https://doi.org/10.1136/jmg.2003.010900" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15121768">Amos et al. (2004)</a> screened 42 independent probands for mutations in the STK11 gene and detected mutations in 22 of 32 (69%) probands with PJS and 0 of 10 probands referred to rule out PJS. In a total of 51 participants with PJS, the authors found gastric polyps to be very common, with a median age at onset of 16 years. Individuals with missense mutations had a significantly later time to onset of first polypectomy (p = 0.04) and of other symptoms compared with those participants with either truncating mutations or no detectable mutation. <a href="#3" class="mim-tip-reference" title="Amos, C. I., Keitheri-Cheteri, M. B., Sabripour, M., Wei, C., McGarrity, T. J., Seldin, M. F., Nations, L., Lynch, P. M., Fidder, H. H., Friedman, E., Frazier, M. L. <strong>Genotype-phenotype correlations in Peutz-Jeghers syndrome.</strong> J. Med. Genet. 41: 327-333, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15121768/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15121768</a>] [<a href="https://doi.org/10.1136/jmg.2003.010900" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15121768">Amos et al. (2004)</a> concluded that STK11 mutation analysis should be restricted to individuals who meet PJS criteria or their close relatives, and suggested that mutation characterization might be of value in disease management. They also noted that the common occurrence of gastric polyps might facilitate chemopreventive studies for this disorder. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15121768" 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 20-year-old female patient with PJS and gastrointestinal hamartomatous polyps, <a href="#34" class="mim-tip-reference" title="Hernan, I., Roig, I., Martin, B., Gamundi, M. J., Martinez-Gimeno, M., Carballo, M. <strong>De novo germline mutation in the serine-threonine kinase STK11/LKB1 gene associated with Peutz-Jeghers syndrome.</strong> Clin. Genet. 66: 58-62, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15200509/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15200509</a>] [<a href="https://doi.org/10.1111/j.0009-9163.2004.00266.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15200509">Hernan et al. (2004)</a> identified a de novo heterozygous germline tyr246-to-ter mutation of the STK11 gene (<a href="/entry/602216#0023">602216.0023</a>). Comparison of melting curve profiles obtained from DNA from the patient's lymphocytes and hamartomatous polyps showed no differences, indicative of a heterozygous mutation rather than loss of heterozygosity in the polyps. <a href="#34" class="mim-tip-reference" title="Hernan, I., Roig, I., Martin, B., Gamundi, M. J., Martinez-Gimeno, M., Carballo, M. <strong>De novo germline mutation in the serine-threonine kinase STK11/LKB1 gene associated with Peutz-Jeghers syndrome.</strong> Clin. Genet. 66: 58-62, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15200509/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15200509</a>] [<a href="https://doi.org/10.1111/j.0009-9163.2004.00266.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15200509">Hernan et al. (2004)</a> suggested that biallelic inactivation of STK11 is not necessarily required for hamartoma formation in PJS patients. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15200509" 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 patient with PJS and a primary gastric cancer (<a href="/entry/137215">137215</a>), <a href="#70" class="mim-tip-reference" title="Shinmura, K., Goto, M., Tao, H., Shimizu, S., Otsuki, Y., Kobayashi, H., Ushida, S., Suzuki, K., Tsuneyoshi, T., Sugimura, H. <strong>A novel STK11 germline mutation in two siblings with Peutz-Jeghers syndrome complicated by primary gastric cancer.</strong> Clin. Genet. 67: 81-86, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15617552/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15617552</a>] [<a href="https://doi.org/10.1111/j.1399-0004.2005.00380.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15617552">Shinmura et al. (2005)</a> identified heterozygosity for a deletion mutation of the STK11 gene (<a href="/entry/602216#0022">602216.0022</a>), resulting in a truncated protein. No inactivation of the wildtype allele by somatic mutation, chromosomal deletion, or hypermethylation at the 5-prime CpG site of STK11 was detected in the gastric carcinoma. The patient's sister also had PJS and died of gastric carcinoma in her twenties. <a href="#70" class="mim-tip-reference" title="Shinmura, K., Goto, M., Tao, H., Shimizu, S., Otsuki, Y., Kobayashi, H., Ushida, S., Suzuki, K., Tsuneyoshi, T., Sugimura, H. <strong>A novel STK11 germline mutation in two siblings with Peutz-Jeghers syndrome complicated by primary gastric cancer.</strong> Clin. Genet. 67: 81-86, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15617552/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15617552</a>] [<a href="https://doi.org/10.1111/j.1399-0004.2005.00380.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15617552">Shinmura et al. (2005)</a> stated that this was the first report of an STK11 germline mutation in a PJS patient with gastric carcinoma. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15617552" 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>Associations Pending Confirmation</em></strong></p><p>
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<a href="#1" class="mim-tip-reference" title="Alhopuro, P., Phichith, D., Tuupanen, S., Sammalkorpi, H., Nybondas, M., Saharinen, J., Robinson, J. P., Yang, Z., Chen, L.-Q., Orntoft, T., Mecklin, J.-P., Jarvinen, H., and 12 others. <strong>Unregulated smooth-muscle myosin in human intestinal neoplasia.</strong> Proc. Nat. Acad. Sci. 105: 5513-5518, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18391202/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18391202</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18391202[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/10.1073/pnas.0801213105" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18391202">Alhopuro et al. (2008)</a> identified a heterozygous germline mutation in the MYH11 gene (<a href="/entry/160745">160745</a>) in 1 of 33 PJS patients who did not have STK11 mutations, and the mutation was not identified in 1,015 controls. The patient had a cystic astrocytoma at age 13 years. At age 23 years, he developed intussusception and was diagnosed with typical PJS. His unaffected father also carried the mutation; there was no family history of the disorder. The authors postulated autosomal recessive inheritance and the presence of a second unidentified MYH11 mutation. In an unrelated patient with colorectal tumor showing microsatellite instability, <a href="#1" class="mim-tip-reference" title="Alhopuro, P., Phichith, D., Tuupanen, S., Sammalkorpi, H., Nybondas, M., Saharinen, J., Robinson, J. P., Yang, Z., Chen, L.-Q., Orntoft, T., Mecklin, J.-P., Jarvinen, H., and 12 others. <strong>Unregulated smooth-muscle myosin in human intestinal neoplasia.</strong> Proc. Nat. Acad. Sci. 105: 5513-5518, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18391202/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18391202</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18391202[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/10.1073/pnas.0801213105" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18391202">Alhopuro et al. (2008)</a> identified the same mutation in the somatic state. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18391202" 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>In a study of 132 PJS patients with or without cancer who had mutations in the STK11 gene, <a href="#66" class="mim-tip-reference" title="Schumacher, V., Vogel, T., Leube, B., Driemel, C., Goecke, T., Moslein, G., Royer-Pokora, B. <strong>STK11 genotyping and cancer risk in Peutz-Jeghers syndrome.</strong> J. Med. Genet. 42: 428-435, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15863673/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15863673</a>] [<a href="https://doi.org/10.1136/jmg.2004.026294" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15863673">Schumacher et al. (2005)</a> found that mutations in the part of the gene involved in ATP binding and catalysis were rarely associated with cancer, whereas mutations in the part of the gene involved in substrate recognition were more frequently associated with malignancies. PJS patients with breast cancers had predominantly truncating mutations. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15863673" 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>Although <a href="#64" class="mim-tip-reference" title="Peutz, J. L. A. <strong>Very remarkable case of familial polyposis of mucous membrane of intestinal tract and nasopharynx accompanied by peculiar pigmentations of skin and mucous membrane. (Dutch).</strong> Nederl. Maandschr. Geneesk. 10: 134-146, 1921."None>Peutz (1921)</a> was the first to recognize the familial association of gastrointestinal polyposis and mucocutaneous pigmentation, cases of gastrointestinal and, in particular, polyposis of the small intestine had been described before him. Many of these may have been instances of Peutz-Jeghers syndrome in which the characteristic pigmentation was not noticed or its significance was not appreciated. Two extensive reviews put the polyps-and-spots syndrome 'on the map': the review by <a href="#37" class="mim-tip-reference" title="Jeghers, H., McKusick, V. A., Katz, K. H. <strong>Generalized intestinal polyposis and melanin spots of the oral mucosa, lips and digits.</strong> New Eng. J. Med. 241: 993-1005 and 1031-1036, 1949.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15399020/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15399020</a>] [<a href="https://doi.org/10.1056/NEJM194912222412501" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15399020">Jeghers et al. (1949)</a> in 2 successive weekly issues of the New England Journal of Medicine, and, describing 10 personal cases, the review by <a href="#22" class="mim-tip-reference" title="Dormandy, T. L. <strong>Gastrointestinal polyposis with mucocutaneous pigmentation (Peutz-Jeghers syndrome).</strong> New Eng. J. Med. 256: 1093-1103; 1141-1146; 1186-1190, 1957.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13452001/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13452001</a>] [<a href="https://doi.org/10.1056/NEJM195706062562306" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="13452001">Dormandy (1957)</a> in 3 successive weekly issues of the same journal. The designation Peutz-Jeghers syndrome appears to have first been used (at least in the title of an article) by <a href="#13" class="mim-tip-reference" title="Bruwer, A., Bargen, J. A., Kierland, R. R. <strong>Surface pigmentation and generalized intestinal polyposis (Peutz-Jeghers syndrome).</strong> Proc. Staff Meet. Mayo Clin. 29: 168-171, 1954.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13145642/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13145642</a>]" pmid="13145642">Bruwer et al. (1954)</a> of the Mayo Clinic. If in several early reports of small intestinal polyposis the characteristic pigmentation of PJS may have passed unnoticed, the reverse is certainly true. <a href="#37" class="mim-tip-reference" title="Jeghers, H., McKusick, V. A., Katz, K. H. <strong>Generalized intestinal polyposis and melanin spots of the oral mucosa, lips and digits.</strong> New Eng. J. Med. 241: 993-1005 and 1031-1036, 1949.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15399020/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15399020</a>] [<a href="https://doi.org/10.1056/NEJM194912222412501" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15399020">Jeghers et al. (1949)</a> called attention to the first account of such cases, in female twins, by <a href="#36" class="mim-tip-reference" title="Hutchinson, J. <strong>Pigmentation of lips and mouth.</strong> Arch. Surg. 7: 290 only, 1896."None>Hutchinson (1896)</a>. <a href="#36" class="mim-tip-reference" title="Hutchinson, J. <strong>Pigmentation of lips and mouth.</strong> Arch. Surg. 7: 290 only, 1896."None>Hutchinson (1896)</a> stated that the pigmented spots 'remain nonaggressive and their subjects remain in good health.' <a href="#76" class="mim-tip-reference" title="Weber, F. P. <strong>Patches of deep pigmentation of oral mucous membrane not connected with Addison's disease.</strong> Quart. J. Med. 12: 404 only, 1919."None>Weber (1919)</a> reported that 'one of the twins had died at the age of 20 years of intussusception at the Metropolitan Hospital.' <a href="#37" class="mim-tip-reference" title="Jeghers, H., McKusick, V. A., Katz, K. H. <strong>Generalized intestinal polyposis and melanin spots of the oral mucosa, lips and digits.</strong> New Eng. J. Med. 241: 993-1005 and 1031-1036, 1949.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15399020/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15399020</a>] [<a href="https://doi.org/10.1056/NEJM194912222412501" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15399020">Jeghers et al. (1949)</a> obtained follow-up information on Hutchinson's twins of the family name Howard. They were daughters of the official rat catcher of city of London. The second twin died childless of breast cancer at the age of 52 years. The breast cancer was considered coincidental at the time of the follow-up, but the findings of <a href="#29" class="mim-tip-reference" title="Giardiello, F. M., Welsh, S. B., Hamilton, S. R., Offerhaus, G. J. A., Gittelsohn, A. M., Booker, S. V., Krush, A. J., Yardley, J. H., Luk, G. D. <strong>Increased risk of cancer in the Peutz-Jeghers syndrome.</strong> New Eng. J. Med. 316: 1511-1514, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3587280/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3587280</a>] [<a href="https://doi.org/10.1056/NEJM198706113162404" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3587280">Giardiello et al. (1987)</a> and the demonstration that the gene that is mutant in PJS is a tumor suppressor gene make the cause of death in the second twin highly significant. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=13452001+3587280+15399020+13145642" 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="#46" class="mim-tip-reference" title="Keller, J. J., Westerman, A. M., de Rooij, F. W. M., Wilson, J. H. P., van Dekken, H., Giardiello, F. M., Weterman, M. A. J., Offerhaus, G. J. A. <strong>Molecular genetic evidence of an association between nasal polyposis and the Peutz-Jeghers syndrome. (Letter)</strong> Ann. Intern. Med. 136: 854-855, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12044140/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12044140</a>] [<a href="https://doi.org/10.7326/0003-4819-136-11-200206040-00020" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12044140">Keller et al. (2002)</a> provided a history of the Peutz-Jeghers syndrome, with biographic information concerning both Jan Peutz and Harold Jeghers. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12044140" 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="#Andre1966" class="mim-tip-reference" title="Andre, R., Duhamel, G., Bruaire, M., Tiollais, P. <strong>Syndrome de Peutz-Jeghers avec polypose oesophagienne.</strong> Bull. Mem. Soc. Med. Hop. Paris 117: 505-510, 1966.">Andre et al. (1966)</a>; <a href="#Cantu1980" class="mim-tip-reference" title="Cantu, J. M., Rivera, H., Ocampo-Campos, R., Bedolla, N., Cortes-Gallegos, V., Gonzalez-Mendoza, A., Diaz, M., Hernandez, A. <strong>Peutz-Jeghers syndrome with feminizing Sertoli cell tumor.</strong> Cancer 46: 223-228, 1980.">Cantu et al. (1980)</a>; <a href="#Cochet1979" class="mim-tip-reference" title="Cochet, B., Carrel, J., Desbaillets, L., Widgren, S. <strong>Peutz-Jeghers syndrome associated with gastrointestinal carcinoma: report of two cases in a family.</strong> Gut 20: 169-175, 1979.">Cochet et al. (1979)</a>; <a href="#Humphries1966" class="mim-tip-reference" title="Humphries, A. L., Jr., Shepherd, M. H., Peters, H. J. <strong>Peutz-Jeghers syndrome with colonic adenocarcinoma and ovarian tumors.</strong> JAMA 197: 296-298, 1966.">Humphries et al. (1966)</a>; <a href="#Joishy1979" class="mim-tip-reference" title="Joishy, S. K., Leela, M. P., Balasegaram, M. <strong>Peutz-Jeghers syndrome and its complications: first case report from Malaysia with review of literature.</strong> Am. J. Surg. 138: 716-720, 1979.">Joishy et al. (1979)</a>; <a href="#Keen1962" class="mim-tip-reference" title="Keen, G., Murray, M. A. <strong>Peutz-Jeghers syndrome: a further family history.</strong> Brit. Med. J. 1: 923-924, 1962.">Keen and Murray
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(1962)</a>; <a href="#Keller2001" class="mim-tip-reference" title="Keller, J. J., Offerhaus, G. J. A., Giardiello, F. M., Menko, F. H. <strong>Jan Peutz, Harold Jeghers and a remarkable combination of polyposis and pigmentation of the skin and mucous membranes.</strong> Fam. Cancer 1: 181-185, 2001.">Keller et al. (2001)</a>; <a href="#Lehur1984" class="mim-tip-reference" title="Lehur, P.-A., Madarnas, P., Devroede, G., Perey, B. J., Menard, D. B., Hamade, N. <strong>Peutz-Jeghers syndrome: association of duodenal and bilateral breast cancers in the same patient.</strong> Digest. Dis. Sci. 29: 178-182, 1984.">Lehur et al. (1984)</a>; <a href="#Lin1977" class="mim-tip-reference" title="Lin, J. I., Caracta, P. F., Lidner, A., Gutzman, L. G. <strong>Peutz-Jeghers polyposis with metastasizing duodenal carcinoma.</strong> Sth. Med. J. 70: 882-884, 1977.">Lin et al. (1977)</a>; <a href="#Matuchansky1979" class="mim-tip-reference" title="Matuchansky, C., Babin, P., Coutrot, S., Druart, F., Barbier, J., Maire, P. <strong>Peutz-Jeghers syndrome with metastasizing carcinoma arising from a jejunal hamartoma.</strong> Gastroenterology 77: 1311-1315, 1979.">Matuchansky et al. (1979)</a>; <a href="#McAllister1967" class="mim-tip-reference" title="McAllister, A. J., Hicken, N. F., Latimer, R. G., Condon, V. R. <strong>Seventeen patients with Peutz-Jeghers syndrome in four generations.</strong> Am. J. Surg. 114: 839-843, 1967.">McAllister et al. (1967)</a>; <a href="#McAllister1977" class="mim-tip-reference" title="McAllister, A. J., Richards, K. F. <strong>Peutz-Jeghers syndrome: experience with twenty patients in five generations.</strong> Am. J. Surg. 134: 717-720, 1977.">McAllister and
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Richards (1977)</a>; <a href="#McKittrick1971" class="mim-tip-reference" title="McKittrick, J. E., Lewis, W. M., Doane, W. A., Gerwig, W. H. <strong>The Peutz-Jeghers syndrome: report of two cases, one with 30-year follow-up.</strong> Arch. Surg. 103: 57-62, 1971.">McKittrick et al. (1971)</a>; <a href="#Mehenni1998" class="mim-tip-reference" title="Mehenni, H., Gehrig, C., Nezu, J., Oku, A., Shimane, M., Rossier, C., Guex, N., Blouin, J.-L., Scott, H. S., Antonarakis, S. E. <strong>Loss of LKB1 kinase activity in Peutz-Jeghers syndrome, and evidence for allelic and locus heterogeneity.</strong> Am. J. Hum. Genet. 63: 1641-1650, 1998.">Mehenni et al. (1998)</a>; <a href="#Michalany1962" class="mim-tip-reference" title="Michalany, J., Ferraz, M. D. <strong>Peutz syndrome in a mulatto family with special reference to the histological structure of the intestinal polyps.</strong> Gastroenterologia 97: 119-129, 1962.">Michalany and Ferraz (1962)</a>; <a href="#Parker1983" class="mim-tip-reference" title="Parker, M. C. O., Knight, M. <strong>Peutz-Jeghers syndrome causing obstructive jaundice due to polyp in common bile duct.</strong> J. Roy. Soc. Med. 76: 701-703, 1983.">Parker and Knight (1983)</a>; <a href="#Peloquin1981" class="mim-tip-reference" title="Peloquin, A. B., Lauze, S., Band, P., Queeneville, G. <strong>Syndrome de Peutz-Jeghers cancerise avec metastases disseminees.</strong> Canad. J. Surg. 24: 90-94, 1981.">Peloquin et
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al. (1981)</a>; <a href="#Riley1980" class="mim-tip-reference" title="Riley, E., Swift, M. <strong>A family with Peutz-Jeghers syndrome and bilateral breast cancer.</strong> Cancer 46: 815-817, 1980.">Riley and Swift (1980)</a>; <a href="#Scully1970" class="mim-tip-reference" title="Scully, R. E. <strong>Sex cord tumors with annular tubules--a distinctive ovarian tumor of the Peutz-Jeghers syndrome.</strong> Cancer 25: 1107-1121, 1970.">Scully (1970)</a>; <a href="#Sheward1962" class="mim-tip-reference" title="Sheward, J. D. <strong>Peutz-Jeghers syndrome in childhood: unusual radiological features.</strong> Brit. Med. J. 1: 921-923, 1962.">Sheward (1962)</a>; <a href="#Tweedie1984" class="mim-tip-reference" title="Tweedie, J. H., McCann, B. G. <strong>Peutz-Jeghers syndrome and metastasising colonic adenocarcinoma.</strong> Gut 25: 1118-1123, 1984.">Tweedie and McCann (1984)</a>
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[<a href="https://doi.org/10.1073/pnas.0801213105" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1515/jpem.2000.13.1.101" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/1098-1004(200007)16:1<23::AID-HUMU5>3.0.CO;2-M" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/s0046-8177(86)80163-0" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1136/bmj.2.6040.853" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/1097-0142(19821115)50:10<2139::aid-cncr2820501028>3.0.co;2-k" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/1097-0142(19800701)46:1<223::aid-cncr2820460137>3.0.co;2-8" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1001/jama.1964.03070230071027" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1056/NEJM199101313240507" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/ajmg.1320150315" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1056/NEJM195706062562306" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1097/00000372-199104000-00008" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1007/BF02232093" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1056/NEJM198706113162404" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1056/NEJM194912222412501" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1038/ng0198-38" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1034/j.1399-0004.1999.560207.x" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/0002-9610(79)90357-x" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1126/science.1359641" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1007/s004310050898" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1136/bmj.1.5282.923" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1023/a:1021149327174" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.7326/0003-4819-136-11-200206040-00020" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1038/sj.ejhg.5201155" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1007/BF01317062" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1097/00007611-197707000-00038" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1007/s004390050173" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/0002-9610(67)90403-5" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/0002-9610(77)90309-9" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1001/archsurg.1971.01350070083019" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1086/301644" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1086/302159" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1159/000202497" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1136/jmg.38.6.356" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1136/jmg.35.1.42" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1177/014107688307600814" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/1097-0142(19800815)46:4<815::aid-cncr2820460428>3.0.co;2-v" target="_blank">Full Text</a>]
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2599445/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2599445</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2599445" 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/gut.30.11.1588" target="_blank">Full Text</a>]
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<a id="74" class="mim-anchor"></a>
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<a id="Tweedie1984" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Tweedie, J. H., McCann, B. G.
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<strong>Peutz-Jeghers syndrome and metastasising colonic adenocarcinoma.</strong>
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Gut 25: 1118-1123, 1984.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6479688/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6479688</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6479688" 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/gut.25.10.1118" target="_blank">Full Text</a>]
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<a id="Veraldi1991" class="mim-anchor"></a>
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<p class="mim-text-font">
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Veraldi, S., Cavicchini, S., Benelli, C., Gasparini, G.
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<strong>Laugier-Hunziker syndrome: a clinical, histopathologic, and ultrastructural study of four cases and review of the literature.</strong>
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J. Am. Acad. Derm. 25: 632-636, 1991.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1791220/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1791220</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1791220" 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/10.1016/0190-9622(91)70244-v" target="_blank">Full Text</a>]
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<a id="76" class="mim-anchor"></a>
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<a id="Weber1919" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Weber, F. P.
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<strong>Patches of deep pigmentation of oral mucous membrane not connected with Addison's disease.</strong>
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Quart. J. Med. 12: 404 only, 1919.
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<a id="Westerman1999" class="mim-anchor"></a>
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Westerman, A. M., Entius, M. M., Boor, P. P. C., Koole, R., de Baar, E., Offerhaus, G. J. A., Lubinski, J., Lindhout, D., Halley, D. J. J., de Rooij, F. W. M., Wilson, J. H. P.
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<strong>Novel mutations in the LKB1/STK11 gene in Dutch Peutz-Jeghers families.</strong>
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Hum. Mutat. 13: 476-481, 1999.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10408777/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10408777</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10408777" 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/(SICI)1098-1004(1999)13:6<476::AID-HUMU7>3.0.CO;2-2" target="_blank">Full Text</a>]
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Westerman, A. M., Entius, M. M., de Baar, E., Boor, P. P. C., Koole, R., van Velthuysen, M. L. F., Offerhaus, G. J. A., Lindhout, D., de Rooij, F. W. M., Wilson, J. H. P.
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<strong>Peutz-Jeghers syndrome: 78-year follow-up of the original family.</strong>
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Lancet 353: 1211-1215, 1999.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10217080/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10217080</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10217080" 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/s0140-6736(98)08018-0" target="_blank">Full Text</a>]
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Westerman, A. M., Wilson, J. H. P.
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<strong>Peutz-Jeghers syndrome: risks of a hereditary condition. A clinical review.</strong>
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Scand. J. Gastroent. Suppl. 230: 64-70, 1999.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10499464/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10499464</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10499464" 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/10.1080/003655299750025561" target="_blank">Full Text</a>]
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<a id="Williams1965" class="mim-anchor"></a>
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Williams, J. P., Knudsen, A.
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<strong>Peutz-Jeghers syndrome with metastasizing duodenal carcinoma.</strong>
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Gut 6: 179-184, 1965.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14279723/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14279723</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14279723" 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/gut.6.2.179" target="_blank">Full Text</a>]
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<a id="Wilson1986" class="mim-anchor"></a>
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Wilson, D. M., Pitts, W. C., Hintz, R. L., Rosenfeld, R. G.
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<strong>Testicular tumors with Peutz-Jeghers syndrome.</strong>
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Cancer 57: 2238-2240, 1986.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3697923/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3697923</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3697923" 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(19860601)57:11<2238::aid-cncr2820571128>3.0.co;2-c" target="_blank">Full Text</a>]
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Yamada, K., Matsukawa, A., Hori, Y., Kukita, A.
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<strong>Ultrastructural studies on pigmented macules of the Peutz-Jeghers syndrome.</strong>
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J. Derm. 8: 367-377, 1981.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7035511/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7035511</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7035511" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1111/j.1346-8138.1981.tb02587.x" target="_blank">Full Text</a>]
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<a id="Young1995" class="mim-anchor"></a>
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Young, S., Gooneratne, S., Straus, F. H., II, Zeller, W. P., Bulun, S. E., Rosenthal, I. M.
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<strong>Feminizing Sertoli cell tumors in boys with Peutz-Jeghers syndrome.</strong>
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Am. J. Surg. Path. 19: 50-58, 1995.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7802138/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7802138</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7802138" 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/10.1097/00000478-199501000-00007" 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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Cassandra L. Kniffin - updated : 4/28/2008
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<div class="row collapse" id="mimCollapseContributors">
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Marla J. F. O'Neill - updated : 8/4/2005<br>Marla J. F. O'Neill - updated : 6/20/2005<br>Marla J. F. O'Neill - updated : 3/1/2005<br>Marla J. F. O'Neill - updated : 6/11/2004<br>Marla J. F. O'Neill - updated : 6/2/2004<br>Victor A. McKusick - updated : 1/15/2004<br>Victor A. McKusick - updated : 3/4/2003<br>Victor A. McKusick - updated : 2/24/2003<br>Victor A. McKusick - updated : 8/20/2002<br>Michael J. Wright - updated : 5/2/2002<br>Victor A. McKusick - updated : 2/26/2001<br>Victor A. McKusick - updated : 2/14/2001<br>Victor A. McKusick - updated : 8/17/2000<br>Wilson H. Y. Lo - updated : 12/2/1999<br>Wilson H. Y. Lo - updated : 10/27/1999<br>Victor A. McKusick - updated : 10/26/1999<br>Victor A. McKusick - updated : 5/12/1999<br>Victor A. McKusick - updated : 5/5/1999<br>Victor A. McKusick - updated : 2/16/1999<br>Victor A. McKusick - updated : 2/16/1998<br>Victor A. McKusick - updated : 1/21/1998<br>Victor A. McKusick - updated : 1/19/1998<br>Victor A. McKusick - updated : 12/29/1997<br>Victor A. McKusick - updated : 11/13/1997<br>Victor A. McKusick - updated : 2/10/1997
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Creation Date:
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<span class="mim-text-font">
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Victor A. McKusick : 6/2/1986
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alopez : 03/21/2024
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<span class="mim-text-font">
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carol : 07/26/2022<br>carol : 05/28/2021<br>carol : 06/25/2019<br>carol : 06/21/2019<br>carol : 06/28/2018<br>carol : 06/27/2018<br>carol : 03/09/2015<br>mcolton : 3/4/2015<br>terry : 10/12/2010<br>terry : 6/3/2009<br>wwang : 6/9/2008<br>ckniffin : 4/28/2008<br>ckniffin : 2/5/2008<br>alopez : 9/7/2007<br>terry : 12/22/2005<br>wwang : 8/5/2005<br>terry : 8/4/2005<br>wwang : 6/22/2005<br>wwang : 6/20/2005<br>terry : 4/21/2005<br>wwang : 3/3/2005<br>terry : 3/1/2005<br>carol : 2/8/2005<br>carol : 6/14/2004<br>terry : 6/11/2004<br>carol : 6/8/2004<br>terry : 6/2/2004<br>terry : 1/15/2004<br>terry : 11/13/2003<br>carol : 3/11/2003<br>terry : 3/4/2003<br>carol : 2/28/2003<br>tkritzer : 2/25/2003<br>terry : 2/24/2003<br>terry : 11/22/2002<br>tkritzer : 8/26/2002<br>tkritzer : 8/23/2002<br>terry : 8/20/2002<br>alopez : 5/2/2002<br>terry : 3/20/2001<br>joanna : 3/16/2001<br>cwells : 3/2/2001<br>cwells : 3/2/2001<br>terry : 2/26/2001<br>cwells : 2/20/2001<br>terry : 2/14/2001<br>carol : 8/18/2000<br>terry : 8/17/2000<br>terry : 8/17/2000<br>carol : 12/6/1999<br>terry : 12/2/1999<br>carol : 10/27/1999<br>carol : 10/27/1999<br>terry : 10/26/1999<br>jlewis : 7/23/1999<br>jlewis : 7/22/1999<br>terry : 5/20/1999<br>mgross : 5/19/1999<br>mgross : 5/14/1999<br>terry : 5/13/1999<br>terry : 5/12/1999<br>carol : 5/10/1999<br>terry : 5/5/1999<br>terry : 5/5/1999<br>carol : 4/23/1999<br>mgross : 4/7/1999<br>mgross : 2/18/1999<br>mgross : 2/17/1999<br>terry : 2/16/1999<br>terry : 6/29/1998<br>terry : 3/10/1998<br>mark : 2/25/1998<br>terry : 2/16/1998<br>terry : 1/21/1998<br>mark : 1/19/1998<br>terry : 1/19/1998<br>dholmes : 12/31/1997<br>terry : 12/29/1997<br>alopez : 12/23/1997<br>terry : 12/23/1997<br>jenny : 11/18/1997<br>terry : 11/13/1997<br>jenny : 7/9/1997<br>terry : 2/24/1997<br>mark : 2/14/1997<br>mark : 2/10/1997<br>terry : 2/4/1997<br>jamie : 1/15/1997<br>mark : 1/15/1997<br>jenny : 1/14/1997<br>terry : 1/8/1997<br>terry : 12/30/1996<br>terry : 12/11/1996<br>mark : 3/14/1996<br>mark : 10/12/1995<br>mimadm : 2/25/1995<br>carol : 2/8/1995<br>pfoster : 8/18/1994<br>warfield : 4/21/1994<br>carol : 7/9/1993
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<span class="mim-font">
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<strong>#</strong> 175200
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<h3>
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<span class="mim-font">
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PEUTZ-JEGHERS SYNDROME; PJS
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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POLYPOSIS, HAMARTOMATOUS INTESTINAL<br />
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POLYPS-AND-SPOTS SYNDROME
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<strong>SNOMEDCT:</strong> 54411001;
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<strong>ICD10CM:</strong> Q85.89;
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<strong>ORPHA:</strong> 2869;
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<strong>DO:</strong> 3852;
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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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<th>
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Location
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<th>
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Phenotype
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</th>
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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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<tbody>
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<span class="mim-font">
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19p13.3
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<span class="mim-font">
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Peutz-Jeghers syndrome
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</td>
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<span class="mim-font">
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175200
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<span class="mim-font">
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Autosomal dominant
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<span class="mim-font">
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3
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<span class="mim-font">
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STK11
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<span class="mim-font">
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602216
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<span class="mim-font">
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<strong>TEXT</strong>
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</h4>
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<p>A number sign (#) is used with this entry because Peutz-Jeghers syndrome (PJS) is caused by heterozygous mutation in the serine/threonine kinase STK11 gene (602216) on chromosome 19p13.</p>
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<span class="mim-font">
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<strong>Description</strong>
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</h4>
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<p>Peutz-Jeghers syndrome is an autosomal dominant disorder characterized by melanocytic macules of the lips, buccal mucosa, and digits; multiple gastrointestinal hamartomatous polyps; and an increased risk of various neoplasms.</p>
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<h4>
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<span class="mim-font">
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<strong>Clinical Features</strong>
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</h4>
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<p>In the syndrome named for Peutz (1921) and Jeghers (Jeghers et al., 1949), polyps may occur in any part of the gastrointestinal tract but jejunal polyps are a consistent feature. Intussusception and bleeding are the usual symptoms. Melanin spots of the lips, buccal mucosa, and digits represent the second part of the syndrome. Malignant degeneration of the small intestinal polyps is rare. Metastases from a malignant polyp in Peutz-Jeghers syndrome was reported by Williams and Knudsen (1965). Dodds et al. (1972) found 15 cases of gastrointestinal carcinoma in Peutz-Jeghers syndrome: 5 in colon, 4 in duodenum, 4 in stomach, 1 in ileum, and 1 in both jejunum and stomach. In the family reported by Farmer et al. (1963), the father had only polyps, the son apparently only pigmentation, and the daughter both polyps and pigmentation. Kieselstein et al. (1969), who found polycystic kidney disease in the same family, also noted a dissociation of signs. Brigg et al. (1976) observed a case of presumed Peutz-Jeghers syndrome without spots or positive family history. Hamartomatous polyps were limited to the jejunum and caused bleeding. Griffith and Bisset (1980) reported 3 cases. In 2 of them, the family history was negative; in the third, the father and a paternal uncle had melanin spots of the lips but no history of intestinal disorder. </p><p>Sommerhaug and Mason (1970) added the ureter to the sites of polyps described in the Peutz-Jeghers syndrome. Previously described extraintestinal sites include esophagus, bladder, renal pelvis, bronchus and nose. Burdick and Prior (1982) reported nonresectable adenocarcinoma of the jejunum arising in a Peutz-Jeghers polyp and accompanied by metastases in mesenteric lymph nodes. Two developed breast carcinoma of which 1 arose in a fibroadenoma. Three had benign ovarian tumors, 1 had a benign breast tumor and 1 had a benign colloid thyroid nodule. One of the cases (case 7) reported by Jeghers et al. (1949) died of pancreatic cancer. Bowlby (1986) reported pancreatic cancer in an adolescent boy with PJS. </p><p>Affected females are prone to develop ovarian tumor, especially granulosa cell tumor (Christian et al., 1964). Wilson et al. (1986) described gynecomastia and multifocal and bilateral testicular tumors in a 6-year-old boy with PJS. The testicular tumors appear to be of Sertoli cell origin and most are calcifying. Two previously reported cases were found. Coen et al. (1991) reported the case of a 4-year-old boy with Peutz-Jeghers syndrome and bilateral sex-cord testicular tumors resulting in gynecomastia. Studies led to the conclusion that increase in aromatase activity (107910) in the gonadal tumors was responsible for estrogen excess and gynecomastia. Three other reported male patients with Peutz-Jeghers syndrome and gonadal tumors had presented with gynecomastia between birth and 6 years of age. They pointed out that multifocal sex-cord tumors were found in palpably normal testes. The occurrence of ovarian tumors far exceeds that of testicular tumors in this disorder. The production of estrogen by ovarian tumors is indicated by the reported appearance of isosexual precocity in girls with PJS (Solh et al., 1983). Young et al. (1995) reported 2 boys, aged 3.5 and 5.5 years, who were evaluated for gynecomastia and found to have multicentric Sertoli cell testicular tumors responsible for their feminization. Both had rapid growth and advanced bone age, and serum levels of estradiol were markedly elevated. </p><p>Bergada et al. (2000) described a 7-year-old boy with Peutz-Jeghers syndrome, gynecomastia, and bilateral neoplastic Sertoli cell proliferation in whom the only abnormal hormonal profile was increased concentration of inhibin-beta (see 147290), which was biologically active, and pro-alpha C of insulin, which was biologically inactive. </p><p>In a patient with both psoriasis and Peutz-Jeghers syndrome (sine polyps), Banse-Kupin and Douglass (1986) described a peculiar phenomenon: the development of characteristic pigmented macules within preexisting psoriatic plaques in sites highly unusual for PJS, e.g., on the elbow, back of the neck and occipital scalp, buttocks, and legs. Sommerhaug and Mason (1970) suggested that patients with PJS develop polyps in areas of frequent trauma. Banse-Kupin and Douglass (1986) proposed that pigmented macules may likewise be located in areas of frequent trauma or areas of inflammation. Inflammation may induce blockage of pigment transfer from melanocyte to keratinocyte, resulting in a macule. As the inflammation or trauma subsides, so may the blockage and the lesion may fade. Histologically, the oral mucosal lesions resemble lentigo simplex, but the acral lesions are distinctive (Yamada et al., 1981). There is an increased number of melanocytes with long dendrites filled with melanosomes but few melanosomes in keratocytes, suggesting a pigment block. </p><p>Giardiello et al. (1987) investigated the occurrence of cancer in 31 patients with PJS followed from 1973 to 1985. Gastrointestinal carcinoma developed in 4, nongastrointestinal carcinoma in 10, and multiple myeloma in 1. Adenomatous polyps of the stomach and colon occurred in 3 other patients. There were 4 cases of pancreatic cancer. Foley et al. (1988) provided a 49-year follow-up of the 'Harrisburg family,' 3 affected members of which were reported by Jeghers et al. (1949). The family had also been studied earlier by Bartholomew et al. (1962). In all, 12 affected members have been identified, making this the largest PJS kindred reported. One member of the family had developed a duodenal carcinoma and a hamartoma with adenomatous changes. Another member developed short bowel syndrome. In the follow-up of 72 patients with PJS in the St. Mark's Polyposis Registry, Spigelman et al. (1989) found that malignant tumors had developed in 16 (22%), of whom all but 1 had died. There were 9 gastrointestinal and 7 nongastrointestinal tumors. The chance of dying of cancer by age 57 was 48%. </p><p>Westerman and Wilson (1999) reviewed the literature on PJS, with particular emphasis on the risks for PJS gene carriers. The risks imposed by polyps included surgical emergencies like small bowel intussusception, and chronic or acute bleeding from the polyps. Many reports, however, suggested an association of PJS with both gastrointestinal and nongastrointestinal malignancies, often at a young age. The frequent occurrence of rare tumors of the ovary, cervix, and testis indicated a general susceptibility for the development of malignancies. The PJS gene was therefore thought to act as a tumor suppressor gene. The authors suggested that a surveillance protocol should be developed for the prevention of cancer in PJS. </p><p>Unusually early age of onset was observed by Fernandez Seara et al. (1995) in a 15-day-old girl who was found to have generalized gastrointestinal polyposis manifested by abdominal distention, hematemesis, bloody diarrhea, and edema. At 15 days of age, ileocecal intussusception causing intestinal obstruction was diagnosed radiologically and reduced by hydrostatic enema; ileocecal surgical resection was required, however. Rectal prolapse due to a large polyp occurred at one month of age. Esophagogastroscopy showed polyps in the stomach; one in the antrum partially obstructed the lumen. No hyperpigmentation of the lips or oral mucosa was observed at any time and none was present in her relatives. The histologic appearance of the polyps removed during life and at autopsy was consistent with Peutz-Jeghers syndrome. </p><p>Gruber et al. (1998) noted that the histopathologic appearance of hamartomas in PJS is distinct from that of other types of gastrointestinal polyps and likely reflects a different pathogenetic sequence for their development. PJS hamartomas show an elongated, frond-like epithelium with cystic dilatation of glands overlying an arborizing network of smooth muscle bundles. Hypermucinous goblet cells are often prominent. In addition, pseudoinvasion by histopathologically benign epithelium is common in PJS hamartomas. These characteristic features are easily distinguished from the cytologic atypia and lack of differentiation seen in typical adenomas, and it is not surprising that PJS tumors seem to share few of the earliest genetic events observed in the transition of normal epithelium to dysplastic adenomas. Hamartomatous polyps arising in the juvenile polyposis syndrome (174900) originate through yet another mechanism as a consequence of germline mutations in the SMAD4/DPC4 gene (600993). The hamartomas of juvenile polyposis are histologically distinct from those of PJS, and the risk of malignancy also differs in these 2 syndromes. </p><p>Some patients with PJS may be disturbed by the appearance of lentigines. Kato et al. (1998) described ruby laser therapy of labial lentigines in 2 children with this disorder. They stated that the response to treatment was excellent, with no sequelae or recurrence of the lesions. </p><p>Boardman et al. (2000) pointed out that diagnosing PJS, even in an individual from a known PJS kindred, can be difficult. Oral pigmentation tends to fade and be forgotten with time, and polyps can often be asymptomatic. Additionally, other syndromes may mimic the pigmentation of PJS, occurring in individuals with an occult malignancy (Babin et al., 1978; Eng et al., 1991; Gass and Glatzer, 1991) or in individuals with Laugier-Hunziker syndrome, a condition characterized by oral hyperpigmentation without polyposis (Veraldi et al., 1991). </p><p>Familial hamartomatous polyps of the small intestine resembling those of PJS were recognized as a feature of Bannayan-Zonana syndrome (BRRS; see 158350), which is caused by mutation in the PTEN gene (601728), by DiLiberti et al. (1983) and others. Pigmented spots occur also in BRRS but characteristically on the glans penis in males and not on the lips. </p><p>In connection with the possibility that the melanin spots of the lips represent a benign neoplasm, the observations of Jeghers et al. (1949) may be significant: clinically, some of the spots could be seen to have a somewhat stippled appearance under magnification, which, it was thought, could be explained by a curious histologic pattern observed on biopsy. The pigmentation occurred mainly in vertical bands interrupted by unpigmented areas. The change suggested the possibility of clonality. </p>
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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>The transmission pattern of PJS in the 3-generation family reported by Jenne et al. (1998) was consistent with autosomal dominant inheritance. The heterozygous mutations in the STK11 gene that were identified by Jenne et al. (1998) in 2 patients with PJS occurred de novo. </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>Studying 2 extended families, Bali et al. (1995) found positive evidence for linkage with several microsatellite markers on chromosome 1. Seldin (1997) reported that addition of more family members in the 2 largest families decreased the lod scores substantially as did the addition of more markers in the region. Indeed, in the original study, the maximum 2-point lod was below 2.0. Multipoint linkage analysis yielded a maximum lod score of 4.00 at D1S220. This is located in the distal region of 1p, where the human homolog of the putative modifier of multiple intestinal neoplasias (172411) had previously been mapped.</p><p>In a patient with Peutz-Jeghers syndrome, Markie et al. (1996) demonstrated a pericentric inversion in chromosome 6. Using fluorescence in situ hybridization with YAC clones selected to contain genetic markers from chromosome 6 and with a probe for the centromeric alphoid array, they located 1 inversion breakpoint within the alphoid repeat array, in a 1-cM interval between D6S257 and D6S402, and the other in a 4-cM interval between D6S403 and D6S311. </p><p>To localize the susceptibility locus for Peutz-Jeghers syndrome, Hemminki et al. (1997) used comparative genomic hybridization (CGH) and targeted linkage analysis, combined with loss of heterozygosity (LOH) study. They demonstrated a high-penetrance locus in distal 19p with a multipoint lod score of 7.00 at marker D19S886 without evidence of genetic heterogeneity. The study demonstrated the power of CGH combined with LOH analysis in identifying putative tumor suppressor loci. In comparative genomic hybridization, a single hybridization allows DNA copy number changes in the whole genome of a tumor to be assessed in comparison with normal tissue DNA (Kallioniemi et al., 1992). The findings of Hemminki et al. (1997) suggested that in most or all of the families they studied, the PJS was caused by a defect in a single locus on 19p. That the Peutz-Jeghers syndrome is genetically homogeneous required, however, confirmation by linkage analysis in further families. Amos et al. (1997) confirmed the mapping of PJS to the telomeric region of 19p. In the 5 families examined, there were no recombinants with the marker D19S886. The multipoint lod score at D19S886 was 7.52, and they found no evidence for genetic heterogeneity or of reduced penetrance. </p><p>Mehenni et al. (1997) performed a genomewide linkage analysis, using DNA polymorphisms in 6 families (2 from Spain, 2 from India, 1 from the U.S., and 1 from Portugal), including 39 affected individuals and 6 individuals of unknown status. Marker D19S886 yielded a maximum lod score of 4.74 at a recombination fraction of 0.45; multipoint linkage analysis resulted in a lod score of 7.51 for the interval between D19S886 and 19pter. However, markers on 19q13.4 also showed significant evidence for linkage. For example, D19S880 resulted in a maximum lod score of 3.8 at theta = 0.13. Most of this positive linkage was contributed by a single family. Thus, the results confirmed the mapping of a common PJS locus on 19p13.3, but also suggested the existence, in a minority of families, of a potential PJS locus on 19q13.4. Buchet-Poyau et al. (2002) excluded several candidate genes as a second PJS locus in the 19q13.3-q13.4 region. </p>
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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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<p>Within a distance of 190 kb proximal to D19S886, the marker with the highest lod score in the study of Hemminki et al. (1997), Jenne et al. (1998) identified and characterized a novel human gene encoding the serine/threonine kinase STK11. In a 3-generation PJS family, they found an STK11 allele with a deletion of exons 4 and 5 and an inversion of exons 6 and 7 (602216.0001) segregating with the disease. Sequence analysis of STK11 exons in 4 unrelated PJS patients identified 3 nonsense mutations (602216.0002, 602216.0003, 602216.0004) and 1 acceptor splice site mutation (602216.0005). All 5 germline mutations were predicted to disrupt the function of the kinase domain. Jenne et al. (1998) concluded that germline mutations in STK11, probably in conjunction with acquired genetic defects of the second allele in somatic cells, caused the manifestations of PJS. </p><p>Independently and simultaneously, Hemminki et al. (1998), the group that identified the linkage of PJS to chromosome 19, demonstrated mutations in the serine/threonine kinase gene in 11 of 12 unrelated patients with PJS. </p><p>Jenne (1998) speculated that cellular context between melanocytes and keratinocytes are regulated by STK11 activity. He pointed to the wide tissue distribution of STK11 and suggested that effects in melanocytes may be observed preferentially at sites of mechanical and physical stress.</p><p>Gruber et al. (1998) studied 6 families with PJS from the Johns Hopkins Polyposis Registry to identify the molecular basis of PJS and to characterize the pathogenesis of gastrointestinal hamartomas and adenocarcinomas in these patients. Linkage analysis in the family studied by McKusick, who contributed to the publication of Jeghers et al. (1949), and in 5 other families confirmed linkage to 19p13.3. Germline mutations in STK11 were identified in all 6 families by sequencing genomic DNA. Analysis of hamartomas and adenocarcinomas from patients with PJS identified LOH of 19p markers near STK11 in 70% of tumors. Haplotype analysis indicated that the retained allele carried a germline mutation (602216.0012), confirming that STK11 is a tumor suppressor gene. LOH of 17p and 18q was identified in an adenocarcinoma but not in hamartomas, implying that allelic loss of these 2 regions corresponds to late molecular events in the pathogenesis of cancer in PJS. The adenocarcinomas showing 17p LOH also demonstrated altered p53 by immunohistochemistry. None of the 18 PJS tumors showed microsatellite instability, LOH on 5q near APC (611731), or mutations in codons 12 or 13 of the KRAS2 (190070) protooncogene. These data provided evidence that STK11 is a tumor suppressor gene that acts as an early gatekeeper regulating the development of hamartomas in PJS and suggested that hamartomas may be pathogenetic precursors of adenocarcinoma. Additional somatic mutation events underlie the progression of hamartomas to adenocarcinomas, and some of these somatic mutations are common to the later stages of tumor progression seen in the majority of colorectal carcinomas. </p><p>Miyaki et al. (2000) presented findings suggesting that gastrointestinal hamartomatous polyps in PJS patients develop through inactivation of the STK11 gene by germline mutation plus somatic mutation or LOH of the unaffected STK11 allele, and that additional mutations of the beta-catenin gene (CTNNB1; 116806) and the p53 gene (TP53; 191170) convert hamartomatous polyps into adenomatous and carcinomatous lesions. </p><p>Westerman et al. (1999) found novel STK11 mutations in 12 of 19 predominantly Dutch families with PJS. No mutation was found in the remaining 7 families. None of the mutations occurred in more than 1 family, and a number were demonstrated to have arisen de novo. The likelihood of locus heterogeneity was raised. </p><p>Jiang et al. (1999) conducted a detailed investigation of germline STK11 alterations by protein truncation test and genomic DNA sequence analysis in 10 unrelated PJS families. A novel truncating deletion in a single patient and several known polymorphisms were identified. The results suggested that STK11 mutations account for only some cases of PJS. </p><p>Boardman et al. (2000) searched for mutations in the STK11 gene in 5 kindreds with more than 2 family members affected by PJS, 5 PJS probands with only 1 other affected family member, and 23 individuals with sporadic PJS. Conformation-sensitive gel electrophoresis was used for the initial screen, followed by direct sequence analysis for characterization. Long-range PCR was used for the detection of larger genetic insertions or deletions. Genetic alterations in the gene were found in 2 probands who had a family history of PJS. Mutations were detected in the gene in only 4 of the 23 patients with sporadic PJS. The authors interpreted these data as suggesting the presence of significant genetic heterogeneity in PJS and the involvement of other loci in this syndrome. They pointed to the report by Mehenni et al. (1997) of a possible second susceptibility locus on 19q in 2 PJS Indian families and to that by Olschwang et al. (1998), in which no evidence of linkage was found in 3 of 20 PJS kindreds. </p><p>Olschwang et al. (2001) studied 34 families with PJS. Mutations in the STK11 gene were identified in 24 families. In the 10 families in which mutations were not identified, there was a significantly increased risk of proximal biliary adenocarcinoma. </p><p>Westerman et al. (1999) traced the Dutch family reported by Peutz (1921) and determined that the affected members carried a previously unidentified germline mutation in the STK11 gene (602216.0014). The pedigree, published by Westerman et al. (1999), showed affected individuals in 4 generations and, by inference, in an earlier fifth generation. In total, 22 persons (9 females and 13 males) were affected and 31 were unaffected. Nasal polyposis was present in 2 members of 1 generation and in 4 members of another. Colicky abdominal pain occurred in all 22 affected members, paralytic ileus in 16, chronic anemia in 9, and acute or chronic blood loss in 14. Rectal prolapse due to polyps occurred in 7. In 4 patients, the nasal polyposis was severe, obstructing the nasal cavity and sinuses, requiring repeated surgery. In 1 woman who had had extremely severe nasal polyposis since childhood, a squamous cell carcinoma of the nasal cavity developed. She died of this tumor 4 years later. Three of the 5 cases of gastrointestinal cancer were in the colon, 1 was in the stomach, and 1 was of unknown primary origin. Breast cancer occurred in a female patient at the age of 47 years. Premenopausal breast cancer was diagnosed in a sib at the age of 44; it was not known whether this patient was affected by PJS. No other cancers of the reproductive tract were found in this family. </p><p>Keller et al. (2002) reported molecular genetic evidence of an association between nasal polyposis and PJS. They studied 12 nasal polyps from 4 patients with PJS who came from 3 families with known germline mutations in STK11, and 28 sporadic nasal polyps from 28 subjects without evidence of PJS, Kartagener syndrome (244400), cystic fibrosis (CF; 219700), or aspirin sensitivity. In 2 unrelated patients with PJS, 4 of 8 nasal polyps showed loss of heterozygosity at 19p13.3. In contrast, loss of heterozygosity was not found in 23 sporadic nasal polyps. Haplotype analysis showed that loss of heterozygosity comprised deletion of the wildtype allele. Loss of heterozygosity at 19p13.3 in nasal polyps of affected patients corresponded with reports of loss of heterozygosity in gastrointestinal hamartomatous polyps (Entius et al., 2001). In his original publication, Peutz (1921) suggested that nasal polyps represent an extraintestinal manifestation of PJS. </p><p>Le Meur et al. (2004) reported a family with typical features of PJS, including melanin spots of the oral mucosa, gastrointestinal hamartomatous polyps, and breast and colon cancer. The authors noted that the proband had neurofibromatosis type I (162200) of paternal origin as well as PJS of maternal origin. Using quantitative multiplex PCR of short fluorescent fragments of the 19p13 region, they identified an approximately 250-kb heterozygous deletion that completely removed the STK11 locus. Le Meur et al. (2004) stated that this was the first report of a complete germline deletion of STK11 and suggested that the presence of such large genomic deletions should be considered in PJS families without detectable point mutations of STK11. </p><p>Amos et al. (2004) screened 42 independent probands for mutations in the STK11 gene and detected mutations in 22 of 32 (69%) probands with PJS and 0 of 10 probands referred to rule out PJS. In a total of 51 participants with PJS, the authors found gastric polyps to be very common, with a median age at onset of 16 years. Individuals with missense mutations had a significantly later time to onset of first polypectomy (p = 0.04) and of other symptoms compared with those participants with either truncating mutations or no detectable mutation. Amos et al. (2004) concluded that STK11 mutation analysis should be restricted to individuals who meet PJS criteria or their close relatives, and suggested that mutation characterization might be of value in disease management. They also noted that the common occurrence of gastric polyps might facilitate chemopreventive studies for this disorder. </p><p>In a 20-year-old female patient with PJS and gastrointestinal hamartomatous polyps, Hernan et al. (2004) identified a de novo heterozygous germline tyr246-to-ter mutation of the STK11 gene (602216.0023). Comparison of melting curve profiles obtained from DNA from the patient's lymphocytes and hamartomatous polyps showed no differences, indicative of a heterozygous mutation rather than loss of heterozygosity in the polyps. Hernan et al. (2004) suggested that biallelic inactivation of STK11 is not necessarily required for hamartoma formation in PJS patients. </p><p>In a patient with PJS and a primary gastric cancer (137215), Shinmura et al. (2005) identified heterozygosity for a deletion mutation of the STK11 gene (602216.0022), resulting in a truncated protein. No inactivation of the wildtype allele by somatic mutation, chromosomal deletion, or hypermethylation at the 5-prime CpG site of STK11 was detected in the gastric carcinoma. The patient's sister also had PJS and died of gastric carcinoma in her twenties. Shinmura et al. (2005) stated that this was the first report of an STK11 germline mutation in a PJS patient with gastric carcinoma. </p><p><strong><em>Associations Pending Confirmation</em></strong></p><p>
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Alhopuro et al. (2008) identified a heterozygous germline mutation in the MYH11 gene (160745) in 1 of 33 PJS patients who did not have STK11 mutations, and the mutation was not identified in 1,015 controls. The patient had a cystic astrocytoma at age 13 years. At age 23 years, he developed intussusception and was diagnosed with typical PJS. His unaffected father also carried the mutation; there was no family history of the disorder. The authors postulated autosomal recessive inheritance and the presence of a second unidentified MYH11 mutation. In an unrelated patient with colorectal tumor showing microsatellite instability, Alhopuro et al. (2008) identified the same mutation in the somatic state. </p>
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<h4>
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<span class="mim-font">
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<strong>Genotype/Phenotype Correlations</strong>
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</span>
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<span class="mim-text-font">
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<p>In a study of 132 PJS patients with or without cancer who had mutations in the STK11 gene, Schumacher et al. (2005) found that mutations in the part of the gene involved in ATP binding and catalysis were rarely associated with cancer, whereas mutations in the part of the gene involved in substrate recognition were more frequently associated with malignancies. PJS patients with breast cancers had predominantly truncating mutations. </p>
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</span>
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<h4>
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<span class="mim-font">
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<strong>History</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>Although Peutz (1921) was the first to recognize the familial association of gastrointestinal polyposis and mucocutaneous pigmentation, cases of gastrointestinal and, in particular, polyposis of the small intestine had been described before him. Many of these may have been instances of Peutz-Jeghers syndrome in which the characteristic pigmentation was not noticed or its significance was not appreciated. Two extensive reviews put the polyps-and-spots syndrome 'on the map': the review by Jeghers et al. (1949) in 2 successive weekly issues of the New England Journal of Medicine, and, describing 10 personal cases, the review by Dormandy (1957) in 3 successive weekly issues of the same journal. The designation Peutz-Jeghers syndrome appears to have first been used (at least in the title of an article) by Bruwer et al. (1954) of the Mayo Clinic. If in several early reports of small intestinal polyposis the characteristic pigmentation of PJS may have passed unnoticed, the reverse is certainly true. Jeghers et al. (1949) called attention to the first account of such cases, in female twins, by Hutchinson (1896). Hutchinson (1896) stated that the pigmented spots 'remain nonaggressive and their subjects remain in good health.' Weber (1919) reported that 'one of the twins had died at the age of 20 years of intussusception at the Metropolitan Hospital.' Jeghers et al. (1949) obtained follow-up information on Hutchinson's twins of the family name Howard. They were daughters of the official rat catcher of city of London. The second twin died childless of breast cancer at the age of 52 years. The breast cancer was considered coincidental at the time of the follow-up, but the findings of Giardiello et al. (1987) and the demonstration that the gene that is mutant in PJS is a tumor suppressor gene make the cause of death in the second twin highly significant. </p><p>Keller et al. (2002) provided a history of the Peutz-Jeghers syndrome, with biographic information concerning both Jan Peutz and Harold Jeghers. </p>
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</span>
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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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Andre et al. (1966); Cantu et al. (1980); Cochet et al. (1979);
|
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Humphries et al. (1966); Joishy et al. (1979); Keen and Murray
|
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(1962); Keller et al. (2001); Lehur et al. (1984); Lin et al. (1977);
|
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Matuchansky et al. (1979); McAllister et al. (1967); McAllister and
|
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Richards (1977); McKittrick et al. (1971); Mehenni et al. (1998);
|
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Michalany and Ferraz (1962); Parker and Knight (1983); Peloquin et
|
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al. (1981); Riley and Swift (1980); Scully (1970); Sheward (1962);
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Tweedie and McCann (1984)
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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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<strong>Unregulated smooth-muscle myosin in human intestinal neoplasia.</strong>
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Amos, C. I., Bali, D., Thiel, T. J., Anderson, J. P., Gourley, I., Frazier, M. L., Lynch, P. M., Luchtefeld, M. A., Young, A., McGarrity, T. J., Seldin, M. F.
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Bali, D., Gourley, I. S., McGarrity, T. J., Spencer, C. A., Howard, L., Frazier, M. L., Lynch, P. M., Seldin, M. F., Amos, C. I.
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<strong>Peutz-Jeghers syndrome maps to chromosome 1p. (Abstract)</strong>
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<strong>Localization of Peutz-Jeghers macules to psoriatic plaques.</strong>
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Arch. Derm. 122: 679-683, 1986.
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<strong>Intestinal polyposis associated with mucocutaneous pigmentation.</strong>
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Proc. Staff Meet. Mayo Clin. 29: 168-171, 1954.
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Buchet-Poyau, K., Mehenni, H., Radhakrishna, U., Antonarakis, S. E.
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<strong>Search for the second Peutz-Jeghers syndrome locus: exclusion of the STK13, PRKCG, KLK10, and PSCD2 genes on chromosome 19 and the STK11IP gene on chromosome 2.</strong>
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Cancer 50: 2139-2146, 1982.
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Cantu, J. M., Rivera, H., Ocampo-Campos, R., Bedolla, N., Cortes-Gallegos, V., Gonzalez-Mendoza, A., Diaz, M., Hernandez, A.
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<strong>Peutz-Jeghers syndrome with feminizing Sertoli cell tumor.</strong>
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Cancer 46: 223-228, 1980.
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[PubMed: 6770991]
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Christian, C. D., McLoughlin, T. G., Cathcart, E. S., Eisenberg, M. M.
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<strong>Peutz-Jeghers syndrome associated with functioning ovarian tumor.</strong>
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JAMA 190: 935-938, 1964.
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[PubMed: 14214503]
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[Full Text: https://doi.org/10.1001/jama.1964.03070230071027]
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Cochet, B., Carrel, J., Desbaillets, L., Widgren, S.
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<strong>Peutz-Jeghers syndrome associated with gastrointestinal carcinoma: report of two cases in a family.</strong>
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Gut 20: 169-175, 1979.
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[PubMed: 428830]
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Coen, P., Kulin, H., Ballantine, T., Zaino, R., Frauenhoffer, E., Boal, D., Inkster, S., Brodie, A., Santen, R.
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<strong>An aromatase-producing sex-cord tumor resulting in prepubertal gynecomastia.</strong>
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[PubMed: 1986290]
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[Full Text: https://doi.org/10.1056/NEJM199101313240507]
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DiLiberti, J. H., Weleber, R. G., Budden, S.
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<strong>Ruvalcaba-Myhre-Smith syndrome: a case with probable autosomal-dominant inheritance and additional manifestations.</strong>
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Am. J. Med. Genet. 15: 491-495, 1983.
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[PubMed: 6881215]
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<p class="mim-text-font">
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Dodds, W. J., Schulte, W. J., Hensley, G. T., Hogan, W. J.
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<strong>Peutz-Jeghers syndrome and gastrointestinal malignancy.</strong>
|
|
Am. J. Roentgen. Radium Ther. Nucl. Med. 115: 374-377, 1972.
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[PubMed: 5037799]
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[Full Text: https://doi.org/10.2214/ajr.115.2.374]
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</p>
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<li>
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<p class="mim-text-font">
|
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Dormandy, T. L.
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<strong>Gastrointestinal polyposis with mucocutaneous pigmentation (Peutz-Jeghers syndrome).</strong>
|
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New Eng. J. Med. 256: 1093-1103; 1141-1146; 1186-1190, 1957.
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[PubMed: 13452001]
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[Full Text: https://doi.org/10.1056/NEJM195706062562306]
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</p>
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</li>
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<p class="mim-text-font">
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Eng, A., Armin, A., Massa, M., Gradini, R.
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<strong>Peutz-Jeghers-like melanotic macules associated with esophageal adenocarcinoma.</strong>
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|
Am. J. Dermatopath. 13: 152-157, 1991.
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[PubMed: 2029089]
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[Full Text: https://doi.org/10.1097/00000372-199104000-00008]
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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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Entius, M. M., Keller, J. J., Westerman, A. M., van Rees, B. P., van Velthuysen, M.-L. F., de Goeij, A. F. P. M., Wilson, J. H. P., Giardiello, F. M., Offerhaus, G. J. A.
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|
<strong>Molecular genetic alterations in hamartomatous polyps and carcinomas of patients with Peutz-Jeghers syndrome.</strong>
|
|
J. Clin. Path. 54: 126-131, 2001.
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[PubMed: 11215281]
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[Full Text: https://doi.org/10.1136/jcp.54.2.126]
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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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Farmer, R. G., Hawk, W. A., Turnbull, R. B.
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<strong>The spectrum of the Peutz-Jeghers syndrome: report of 3 cases.</strong>
|
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Am. J. Dig. Dis. 8: 953-961, 1963.
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<strong>Peutz-Jeghers families unlinked to STK11/LKB1 gene mutations are highly predisposed to primitive biliary adenocarcinoma.</strong>
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[PubMed: 11389158]
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[Full Text: https://doi.org/10.1136/jmg.38.6.356]
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<strong>Peutz-Jeghers disease: most, but not all, families are compatible with linkage to 19p13.3.</strong>
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J. Med. Genet. 35: 42-44, 1998.
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[PubMed: 9475093]
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<strong>Peutz-Jeghers syndrome causing obstructive jaundice due to polyp in common bile duct.</strong>
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J. Roy. Soc. Med. 76: 701-703, 1983.
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[PubMed: 6887190]
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[PubMed: 7459744]
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<p class="mim-text-font">
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Peutz, J. L. A.
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<strong>Very remarkable case of familial polyposis of mucous membrane of intestinal tract and nasopharynx accompanied by peculiar pigmentations of skin and mucous membrane. (Dutch).</strong>
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Nederl. Maandschr. Geneesk. 10: 134-146, 1921.
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Riley, E., Swift, M.
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<strong>A family with Peutz-Jeghers syndrome and bilateral breast cancer.</strong>
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Cancer 46: 815-817, 1980.
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[PubMed: 7397644]
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[Full Text: https://doi.org/10.1002/1097-0142(19800815)46:4<815::aid-cncr2820460428>3.0.co;2-v]
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<p class="mim-text-font">
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<strong>Sex cord tumors with annular tubules--a distinctive ovarian tumor of the Peutz-Jeghers syndrome.</strong>
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Cancer 25: 1107-1121, 1970.
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[PubMed: 5429475]
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[Full Text: https://doi.org/10.1002/1097-0142(197005)25:5<1107::aid-cncr2820250516>3.0.co;2-7]
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J. Pediat. 103: 593-595, 1983.
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[PubMed: 5466889]
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<strong>Patches of deep pigmentation of oral mucous membrane not connected with Addison's disease.</strong>
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Quart. J. Med. 12: 404 only, 1919.
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Westerman, A. M., Entius, M. M., Boor, P. P. C., Koole, R., de Baar, E., Offerhaus, G. J. A., Lubinski, J., Lindhout, D., Halley, D. J. J., de Rooij, F. W. M., Wilson, J. H. P.
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Westerman, A. M., Entius, M. M., de Baar, E., Boor, P. P. C., Koole, R., van Velthuysen, M. L. F., Offerhaus, G. J. A., Lindhout, D., de Rooij, F. W. M., Wilson, J. H. P.
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Yamada, K., Matsukawa, A., Hori, Y., Kukita, A.
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Young, S., Gooneratne, S., Straus, F. H., II, Zeller, W. P., Bulun, S. E., Rosenthal, I. M.
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<strong>Feminizing Sertoli cell tumors in boys with Peutz-Jeghers syndrome.</strong>
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<span class="mim-text-font">
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Cassandra L. Kniffin - updated : 4/28/2008<br>Marla J. F. O'Neill - updated : 8/4/2005<br>Marla J. F. O'Neill - updated : 6/20/2005<br>Marla J. F. O'Neill - updated : 3/1/2005<br>Marla J. F. O'Neill - updated : 6/11/2004<br>Marla J. F. O'Neill - updated : 6/2/2004<br>Victor A. McKusick - updated : 1/15/2004<br>Victor A. McKusick - updated : 3/4/2003<br>Victor A. McKusick - updated : 2/24/2003<br>Victor A. McKusick - updated : 8/20/2002<br>Michael J. Wright - updated : 5/2/2002<br>Victor A. McKusick - updated : 2/26/2001<br>Victor A. McKusick - updated : 2/14/2001<br>Victor A. McKusick - updated : 8/17/2000<br>Wilson H. Y. Lo - updated : 12/2/1999<br>Wilson H. Y. Lo - updated : 10/27/1999<br>Victor A. McKusick - updated : 10/26/1999<br>Victor A. McKusick - updated : 5/12/1999<br>Victor A. McKusick - updated : 5/5/1999<br>Victor A. McKusick - updated : 2/16/1999<br>Victor A. McKusick - updated : 2/16/1998<br>Victor A. McKusick - updated : 1/21/1998<br>Victor A. McKusick - updated : 1/19/1998<br>Victor A. McKusick - updated : 12/29/1997<br>Victor A. McKusick - updated : 11/13/1997<br>Victor A. McKusick - updated : 2/10/1997
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Victor A. McKusick : 6/2/1986
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NOTE: OMIM is intended for use primarily by physicians and other professionals concerned with genetic disorders, by genetics researchers,
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