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<meta name="keywords" content="C1851124, apc, desmd, desmoid disease, hereditary, disease or syndrome, familial infiltrative fibromatosis, fibromatosis, familial infiltrative, fif, autosomal dominant, autosomal recessive, birth defects, chromosomal disease, chromosome, clinical features, clinical findings, clinical genetics, clinical recommendations, clinvar, congenital chromosomal disease, consumer genetic resources, cytogenetic location, disease characteristics, disease definitions, disease descriptions, disease ontology, disease synonyms, disease vocabulary, dysmorphology, entrez, familial disease, gene, gene-disease relationship, genereviews, genetic disease, genetic disorder, genetic terminology, genetic testing registry, genetics home reference, genomic disease, gtr, hereditary disease, heritable disease, hpo, human phenotype ontology, inherited disease, management guidelines, maternal inheritance, medgen, medical genetics, medical subject headings, mesh, mitochondrial inheritance, mode of inheritance, national center for biotechnology information, national institutes of health, national library of medicine, ncbi, nih, nlm, omim, ordo, orphanet, paternal inheritance, phenome, position statements, professional practice guidelines, rare disease, reference sequence, refseq, snomed ct, syndrome, undiagnosed diseases, x-linked recessive" /><meta name="description" content="APC-associated polyposis conditions include (classic or attenuated) familial adenomatous polyposis (FAP) and gastric adenocarcinoma and proximal polyposis of the stomach (GAPPS). FAP is a colorectal cancer (CRC) predisposition syndrome that can manifest in either classic or attenuated form. Classic FAP is characterized by hundreds to thousands of adenomatous colonic polyps, beginning on average at age 16 years (range 7-36 years). For those with the classic form of FAP, 95% of individuals have polyps by age 35 years; CRC is inevitable without colectomy. The mean age of CRC diagnosis in untreated individuals is 39 years (range 34-43 years). The attenuated form is characterized by multiple colonic polyps (average of 30), more proximally located polyps, and a diagnosis of CRC at a later age than in classic FAP. For those with an attenuated form, there is a 70% lifetime risk of CRC and the mean age of diagnosis is 50-55 years. Extracolonic manifestations are variably present and include polyps of the stomach and duodenum, osteomas, dental abnormalities, congenital hypertrophy of the retinal pigment epithelium (CHRPE), benign cutaneous lesions, desmoid tumors, adrenal masses, and other associated cancers. GAPPS is characterized by proximal gastric polyposis, increased risk of gastric adenocarcinoma, and no duodenal or colonic involvement in most individuals reported." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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UID=338210
|
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ConceptID=C1851124
|
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-->
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<!--imgCountBooks = 1--><div class="ncbi_carousel" data-ncbicarousel-config="imageWidth:'100px',numItemsVisible:2,toggler:false"><div class="nc_header"><span class="img_strip_title">Image</span></div><div class="nc_content"><div class="nc_item"><a class="figpopup"><img alt="Image from GeneReviews" src="/books/NBK1345/bin/fap-Image001.gif" src-large="/books/NBK1345/bin/fap-Image001.jpg" /></a><br /><a href="/books/NBK1345/figure/fap.F1/" title="GeneReviews" target="_blank">details</a></div></div></div><h1 class="medgenTitle"><div class="MedGenTitleText">Desmoid disease, hereditary<span class="h1sub">(DESMD)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>338210</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information."><span class="highlight" style="background-color:">C1851124</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>DESMD; FIBROMATOSIS, FAMILIAL INFILTRATIVE</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td><a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#target-gene-loc">Gene (location):<img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a><div class="display-none" id="target-gene-loc">
|
||
Gene(s) directly associated with<br />
|
||
this condition or phenotype.</div></td>
|
||
<td><a target="_blank" title="APC - ID: 324 - NCBI Gene" href="/gene/324" class="medgenPMinfo">APC</a> (5q22.2)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/135290" target="_blank">135290</a></td></tr>
|
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</tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
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<div class="portlet mgSection" id="ID_101">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Disease_characteristics">Disease characteristics</h1><a sid="101" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><div class="excerpt">Excerpted from the <i>GeneReview: </i><a href="/books/NBK1345" target="_blank">APC-Associated Polyposis Conditions</a></div><div>APC-associated polyposis conditions include (classic or attenuated) familial adenomatous polyposis (FAP) and gastric adenocarcinoma and proximal polyposis of the stomach (GAPPS). FAP is a colorectal cancer (CRC) predisposition syndrome that can manifest in either classic or attenuated form. Classic FAP is characterized by hundreds to thousands of adenomatous colonic polyps, beginning on average at age 16 years (range 7-36 years). For those with the classic form of FAP, 95% of individuals have polyps by age 35 years; CRC is inevitable without colectomy. The mean age of CRC diagnosis in untreated individuals is 39 years (range 34-43 years). The attenuated form is characterized by multiple colonic polyps (average of 30), more proximally located polyps, and a diagnosis of CRC at a later age than in classic FAP. For those with an attenuated form, there is a 70% lifetime risk of CRC and the mean age of diagnosis is 50-55 years. Extracolonic manifestations are variably present and include polyps of the stomach and duodenum, osteomas, dental abnormalities, congenital hypertrophy of the retinal pigment epithelium (CHRPE), benign cutaneous lesions, desmoid tumors, adrenal masses, and other associated cancers. GAPPS is characterized by proximal gastric polyposis, increased risk of gastric adenocarcinoma, and no duodenal or colonic involvement in most individuals reported. [from <a title="GeneReviews" href="https://www.ncbi.nlm.nih.gov/books/NBK1116" class="defSource" target="_blank">GeneReviews</a>]</div><div class="spaceAbove"><strong>Full text of <i>GeneReview</i> (by section):</strong><br /><a class="medgenPMinfo" href="/books/NBK1345#fap.Summary" target="NBK1345">Summary</a> | <a class="medgenPMinfo" href="/books/NBK1345#fap.GeneReview_Scope" target="NBK1345">GeneReview Scope</a> | <a class="medgenPMinfo" href="/books/NBK1345#fap.Diagnosis" target="NBK1345">Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK1345#fap.Clinical_Characteristics" target="NBK1345">Clinical Characteristics</a> | <a class="medgenPMinfo" href="/books/NBK1345#fap.Genetically_Related_Allelic_Disorder" target="NBK1345">Genetically Related (Allelic) Disorders</a> | <a class="medgenPMinfo" href="/books/NBK1345#fap.Differential_Diagnosis" target="NBK1345">Differential Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK1345#fap.Management" target="NBK1345">Management</a> | <a class="medgenPMinfo" href="/books/NBK1345#fap.Genetic_Counseling" target="NBK1345">Genetic Counseling</a> | <a class="medgenPMinfo" href="/books/NBK1345#fap.Resources" target="NBK1345">Resources</a> | <a class="medgenPMinfo" href="/books/NBK1345#fap.Molecular_Genetics" target="NBK1345">Molecular Genetics</a> | <a class="medgenPMinfo" href="/books/NBK1345#fap.Chapter_Notes" target="NBK1345">Chapter Notes</a> | <a class="medgenPMinfo" href="/books/NBK1345#fap.References" target="NBK1345">References</a></div><div class="spaceAbove"><strong>Authors:</strong><br />
|
||
Timothy Yen | Peter P Stanich | Lisen Axell<i>, et. al.</i> <a href="/books/NBK1345" target="NBK1345" title="NCBI Bookshelf: APC-Associated Polyposis Conditions">view full author information</a></div></div>
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</div>
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<div class="portlet mgSection" id="ID_117">
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||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Additional_descriptions">Additional descriptions</h1><a sid="117" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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||
<div class="portlet_content ln"><div class="mgSection"><strong>From OMIM</strong><br />Hereditary desmoid disease usually presents as an extraintestinal manifestation of familial adenomatous polyposis (FAP; 175100), also known as Gardner syndrome, which is an autosomal dominant disorder caused by germline mutation in the APC gene. The desmoid tumors are usually intraabdominal and, although benign, can be locally aggressive and result in significant morbidity. Desmoid tumors can also arise sporadically (Couture et al., 2000). <a target="_blank" href="http://www.omim.org/entry/135290">http://www.omim.org/entry/135290</a></div><div class="mgSection"><strong>From MedlinePlus Genetics</strong><br />A milder type of familial adenomatous polyposis, called autosomal recessive familial adenomatous polyposis, has also been identified. People with the autosomal recessive type of this disorder have fewer polyps than those with the classic type. Fewer than 100 polyps typically develop, rather than hundreds or thousands. The autosomal recessive type of this disorder is caused by mutations in a different gene than the classic and attenuated types of familial adenomatous polyposis.<br /><br />In people with classic familial adenomatous polyposis, the number of polyps increases with age, and hundreds to thousands of polyps can develop in the colon. Also of particular significance are noncancerous growths called desmoid tumors. These fibrous tumors usually occur in the tissue covering the intestines and may be provoked by surgery to remove the colon. Desmoid tumors tend to recur after they are surgically removed. In both classic familial adenomatous polyposis and its attenuated variant, benign and malignant tumors are sometimes found in other places in the body, including the duodenum (a section of the small intestine), stomach, bones, skin, and other tissues. People who have colon polyps as well as growths outside the colon are sometimes described as having Gardner syndrome.<br /><br />Familial adenomatous polyposis (FAP) is an inherited disorder characterized by cancer of the large intestine (colon) and rectum. People with the classic type of familial adenomatous polyposis may begin to develop multiple noncancerous (benign) growths (polyps) in the colon as early as their teenage years. Unless the colon is removed, these polyps will become malignant (cancerous). The average age at which an individual develops colon cancer in classic familial adenomatous polyposis is 39 years. Some people have a variant of the disorder, called attenuated familial adenomatous polyposis, in which polyp growth is delayed. The average age of colorectal cancer onset for attenuated familial adenomatous polyposis is 55 years. <a target="_blank" href="https://medlineplus.gov/genetics/condition/familial-adenomatous-polyposis">https://medlineplus.gov/genetics/condition/familial-adenomatous-polyposis</a></div><div class="mgSection"><strong>From MedlinePlus Genetics</strong><br />A desmoid tumor is an abnormal growth that arises from connective tissue, which is the tissue that provides strength and flexibility to structures such as bones, ligaments, and muscles. Typically, a single tumor develops, although some people have multiple tumors. The tumors can occur anywhere in the body. Tumors that form in the abdominal wall are called abdominal desmoid tumors; those that arise from the tissue that connects the abdominal organs are called intra-abdominal desmoid tumors; and tumors found in other regions of the body are called extra-abdominal desmoid tumors. Extra-abdominal tumors occur most often in the shoulders, upper arms, and upper legs.<br /><br />Desmoid tumors are fibrous, much like scar tissue. They are generally not considered cancerous (malignant) because they do not spread to other parts of the body (metastasize); however, they can aggressively invade the surrounding tissue and can be very difficult to remove surgically. These tumors often recur, even after apparently complete removal.<br /><br />The most common symptom of desmoid tumors is pain. Other signs and symptoms, which are often caused by growth of the tumor into surrounding tissue, vary based on the size and location of the tumor. Intra-abdominal desmoid tumors can block the bowel, causing constipation. Extra-abdominal desmoid tumors can restrict the movement of affected joints and cause limping or difficulty moving the arms or legs.<br /><br />Desmoid tumors occur frequently in people with an inherited form of colon cancer called familial adenomatous polyposis (FAP). These individuals typically develop intra-abdominal desmoid tumors in addition to abnormal growths (called polyps) and cancerous tumors in the colon. Desmoid tumors that are not part of an inherited condition are described as sporadic. <a target="_blank" href="https://medlineplus.gov/genetics/condition/desmoid-tumor">https://medlineplus.gov/genetics/condition/desmoid-tumor</a></div></div>
|
||
</div>
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||
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||
<div class="portlet mgSection" id="ID_102">
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||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_features">Clinical features</h1><a sid="102" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln clinfeat"><strong>From HPO</strong><br />
|
||
<div class="divPopper rprt" id="clin_1054917"><div><strong>Gastrointestinal desmoid tumor</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1054917</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier assigned by MedGen (starting with CN) for terms that cannot be identified in NLM's Unified Medical Language system (UMLS) Click for more information.">CN378841</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Benign, slow-growing tumors without any metastatic potential. Despite their benign nature, they can damage nearby structures causing organ dysfunction. Histologically they resemble low-grade fibrosarcomas, but they are very locally aggressive and tend to recur even after complete resection. There is a tendency for recurrence in the setting of prior surgery and the most common localisation of these tumors is intraabdominal from smooth muscle cells of the instestine.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1054917">Feature record</a> | <a href="/medgen?term=%22Gastrointestinal%20desmoid%20tumor%22%5BClinical%20Features%5D%20OR%201054917%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_2839"><div><strong>Colon cancer</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>2839</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0007102</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Neoplastic Process</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A primary or metastatic malignant neoplasm that affects the colon. Representative examples include carcinoma, lymphoma, and sarcoma.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/2839">Feature record</a> | <a href="/medgen?term=%22Colon%20cancer%22%5BClinical%20Features%5D%20OR%202839%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_182694"><div><strong>Colorectal polyposis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>182694</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0949059</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Neoplastic Process</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Multiple abnormal growths that arise from the lining of the large intestine (colon or rectum) and protrude into the intestinal lumen.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/182694">Feature record</a> | <a href="/medgen?term=%22Colorectal%20polyposis%22%5BClinical%20Features%5D%20OR%20182694%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_146260"><div><strong>Breast carcinoma</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>146260</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0678222</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Neoplastic Process</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The presence of a carcinoma of the breast.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/146260">Feature record</a> | <a href="/medgen?term=%22Breast%20carcinoma%22%5BClinical%20Features%5D%20OR%20146260%5Buid%5D">Search on this feature</a></div></div><div class="TreeLite" data-jigconfig="closed: 1"><div class="concept-def"><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().openAll(); return false;">Show all</a><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().closeAll(); return false;">Hide all</a></div><ul><li><span class="TLline">Abnormality of the breast</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_146260" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Breast carcinoma</a></span></li></ul></li><li><span class="TLline">Abnormality of the digestive system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_2839" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Colon cancer</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_182694" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Colorectal polyposis</a></span></li></ul></li><li><span class="TLline">Neoplasm</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1054917" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Gastrointestinal desmoid tumor</a></span></li></ul></li></ul></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_118">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li><li><a href="#tabORDO">Orphanet</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="TLclosed"><span class="TLline"><a href="/medgen/38187" ref="tree=GTR&ncbi_uid=38187&link_uid=38187" title="View MedGen record for 'Desmoid tumor'">Desmoid tumor</a></span><ul><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1851124[DISCUI]&test_type=Clinical" ref="ncbi_uid=338210">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=338210" target="_blank" href="/omim/135290">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1345/" ref="ncbi_uid=338210">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=338210" ref="ncbi_uid=338210">V</a></span></span><span class="TLline">Desmoid disease, hereditary</span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C2675440[DISCUI]&test_type=Clinical" ref="ncbi_uid=436434">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=436434" target="_blank" href="/omim/135290">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=436434" ref="ncbi_uid=436434">V</a></span></span><span class="TLline"><a href="/medgen/436434" ref="tree=GTR&ncbi_uid=436434&link_uid=436434" title="View MedGen record for 'Desmoid tumor caused by somatic mutation'">Desmoid tumor caused by somatic mutation</a></span></li></ul></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/39483" ref="tree=MeSH" title="MedGen record for Benign neoplasm">Benign neoplasm</a></span><ul><li><span class="TLline"><a href="/medgen/83866" ref="tree=MeSH" title="MedGen record for Benign connective and soft tissue neoplasm">Benign connective and soft tissue neoplasm</a></span><ul><li><span class="TLline"><a href="/medgen/83151" ref="tree=MeSH" title="MedGen record for Benign soft tissue neoplasm">Benign soft tissue neoplasm</a></span><ul><li><span class="TLline"><a href="/medgen/231936" ref="tree=MeSH" title="MedGen record for Benign Fibroblastic Neoplasm">Benign Fibroblastic Neoplasm</a></span><ul><li><span class="TLline"><a href="/medgen/42016" ref="tree=MeSH" title="MedGen record for Fibroma">Fibroma</a></span><ul><li><span class="TLline"><a href="/medgen/38187" ref="tree=MeSH" title="MedGen record for Desmoid tumor">Desmoid tumor</a></span><ul><li><span class="matched_ds">Desmoid disease, hereditary</span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div><div id="tabORDO">Follow <a target="_blank" href="http://www.orpha.net/consor/cgi-bin/Disease_Classif.php?lng=EN&data_id=156&PatId=8665&search=Disease_Classif_Simple&new=1" class="ital bold">this link</a> to review classifications for <span class="ital">Desmoid disease, hereditary</span> in Orphanet.</div></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_105">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38785081">Current management of familial adenomatous polyposis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lauricella S,
|
||
Rausa E,
|
||
Pellegrini I,
|
||
Ricci MT,
|
||
Signoroni S,
|
||
Palassini E,
|
||
Cavalcoli F,
|
||
Pasanisi P,
|
||
Colombo C,
|
||
Vitellaro M</span><br />
|
||
<span class="medgenPMjournal">Expert Rev Anticancer Ther</span>
|
||
2024 Jun;24(6):363-377.
|
||
Epub 2024 May 26
|
||
doi: 10.1080/14737140.2024.2344649.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38785081" target="_blank">38785081</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35670122">Evolving strategies for management of desmoid tumor.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Riedel RF,
|
||
Agulnik M</span><br />
|
||
<span class="medgenPMjournal">Cancer</span>
|
||
2022 Aug 15;128(16):3027-3040.
|
||
Epub 2022 Jun 7
|
||
doi: 10.1002/cncr.34332.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35670122" target="_blank">35670122</a><a href="/pmc/articles/PMC9546183" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21364578">Evaluation of management of desmoids tumours associated with familial adenomatous polyposis in Dutch patients.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bhandari S,
|
||
Sinha A,
|
||
Clark SK</span><br />
|
||
<span class="medgenPMjournal">Br J Cancer</span>
|
||
2011 Mar 29;104(7):1236; author reply 1237.
|
||
Epub 2011 Mar 1
|
||
doi: 10.1038/bjc.2011.50.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21364578" target="_blank">21364578</a><a href="/pmc/articles/PMC3068495" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(desmoid%20disease%2C%20hereditary)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">See all (45)</a></div></div>
|
||
</div>
|
||
<div class="display-none help-popup" id="guidelinesHelpPM">These guidelines are articles in PubMed that match specific search criteria developed by MedGen to capture the most relevant practice guidelines. This list may not be comprehensive and may include broader topics as well. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div><div class="display-none help-popup" id="guidelinesHelpCurated">These guidelines are manually curated by the MedGen team
|
||
to supplement articles available in PubMed. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div>
|
||
<div class="portlet mgSection" id="ID_103">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_clinical_studies">Recent clinical studies</h1><a sid="103" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">Etiology</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/32505560">Presentation and Follow-up of Familial Adenomatous Polyposis: Differences Between APC and MUTYH Mutations.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bademci R,
|
||
Bollo J,
|
||
Ramón Y Cajal T,
|
||
Martínez MC,
|
||
Hernández MP,
|
||
Targarona EM</span><br />
|
||
<span class="medgenPMjournal">Cir Esp (Engl Ed)</span>
|
||
2020 Oct;98(8):465-471.
|
||
Epub 2020 Jun 3
|
||
doi: 10.1016/j.ciresp.2020.04.033.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32505560" target="_blank">32505560</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29901254">Novel intra-genic large deletions of CTNNB1 gene identified in WT desmoid-type fibromatosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Colombo C,
|
||
Urbini M,
|
||
Astolfi A,
|
||
Collini P,
|
||
Indio V,
|
||
Belfiore A,
|
||
Paielli N,
|
||
Perrone F,
|
||
Tarantino G,
|
||
Palassini E,
|
||
Fiore M,
|
||
Pession A,
|
||
Stacchiotti S,
|
||
Pantaleo MA,
|
||
Gronchi A</span><br />
|
||
<span class="medgenPMjournal">Genes Chromosomes Cancer</span>
|
||
2018 Oct;57(10):495-503.
|
||
Epub 2018 Aug 20
|
||
doi: 10.1002/gcc.22644.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29901254" target="_blank">29901254</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28266097">Dispelling misconceptions in the management of familial adenomatous polyposis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chittleborough TJ,
|
||
Warrier SK,
|
||
Heriot AG,
|
||
Kalady M,
|
||
Church J</span><br />
|
||
<span class="medgenPMjournal">ANZ J Surg</span>
|
||
2017 Jun;87(6):441-445.
|
||
Epub 2017 Mar 7
|
||
doi: 10.1111/ans.13919.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28266097" target="_blank">28266097</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25751801">Desmoids and genotype in familial adenomatous polyposis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Church J,
|
||
Xhaja X,
|
||
LaGuardia L,
|
||
O'Malley M,
|
||
Burke C,
|
||
Kalady M</span><br />
|
||
<span class="medgenPMjournal">Dis Colon Rectum</span>
|
||
2015 Apr;58(4):444-8.
|
||
doi: 10.1097/DCR.0000000000000316.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25751801" target="_blank">25751801</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25264623">Is wide resection obsolete for desmoid tumors in children and adolescents? Evaluation of histological margins, immunohistochemical markers, and review of literature.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Woltsche N,
|
||
Gilg MM,
|
||
Fraissler L,
|
||
Liegl-Atzwanger B,
|
||
Beham A,
|
||
Lackner H,
|
||
Benesch M,
|
||
Leithner A</span><br />
|
||
<span class="medgenPMjournal">Pediatr Hematol Oncol</span>
|
||
2015 Feb;32(1):60-9.
|
||
Epub 2014 Sep 29
|
||
doi: 10.3109/08880018.2014.956905.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25264623" target="_blank">25264623</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Desmoid%20disease%2C%20hereditary%22%20AND%20Etiology%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (14)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/34996557">Desmoid Tumor and Multiple Colon Adenomas.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Erickson LA,
|
||
Chen B</span><br />
|
||
<span class="medgenPMjournal">Mayo Clin Proc</span>
|
||
2022 Jan;97(1):193-195.
|
||
doi: 10.1016/j.mayocp.2021.11.025.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34996557" target="_blank">34996557</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28299848">Specimen Identification Errors in Breast Biopsies: Age Matters. Report of Two Near-Miss Events and Review of the Literature.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tozbikian G,
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Gemignani ML,
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Brogi E</span><br />
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<span class="medgenPMjournal">Breast J</span>
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2017 Sep;23(5):583-588.
|
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Epub 2017 Mar 16
|
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doi: 10.1111/tbj.12797.
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<span class="bold">PMID: </span><a href="/pubmed/28299848" target="_blank">28299848</a><a href="/pmc/articles/PMC5600634" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28266097">Dispelling misconceptions in the management of familial adenomatous polyposis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chittleborough TJ,
|
||
Warrier SK,
|
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Heriot AG,
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Kalady M,
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Church J</span><br />
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<span class="medgenPMjournal">ANZ J Surg</span>
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2017 Jun;87(6):441-445.
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Epub 2017 Mar 7
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doi: 10.1111/ans.13919.
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<span class="bold">PMID: </span><a href="/pubmed/28266097" target="_blank">28266097</a></div>
|
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|
||
<div class="nl"><a target="_blank" href="/pubmed/25751801">Desmoids and genotype in familial adenomatous polyposis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Church J,
|
||
Xhaja X,
|
||
LaGuardia L,
|
||
O'Malley M,
|
||
Burke C,
|
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Kalady M</span><br />
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<span class="medgenPMjournal">Dis Colon Rectum</span>
|
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2015 Apr;58(4):444-8.
|
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doi: 10.1097/DCR.0000000000000316.
|
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<span class="bold">PMID: </span><a href="/pubmed/25751801" target="_blank">25751801</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25264623">Is wide resection obsolete for desmoid tumors in children and adolescents? Evaluation of histological margins, immunohistochemical markers, and review of literature.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Woltsche N,
|
||
Gilg MM,
|
||
Fraissler L,
|
||
Liegl-Atzwanger B,
|
||
Beham A,
|
||
Lackner H,
|
||
Benesch M,
|
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Leithner A</span><br />
|
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<span class="medgenPMjournal">Pediatr Hematol Oncol</span>
|
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2015 Feb;32(1):60-9.
|
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Epub 2014 Sep 29
|
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doi: 10.3109/08880018.2014.956905.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25264623" target="_blank">25264623</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Desmoid%20disease%2C%20hereditary%22%20AND%20Diagnosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (18)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/28266097">Dispelling misconceptions in the management of familial adenomatous polyposis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chittleborough TJ,
|
||
Warrier SK,
|
||
Heriot AG,
|
||
Kalady M,
|
||
Church J</span><br />
|
||
<span class="medgenPMjournal">ANZ J Surg</span>
|
||
2017 Jun;87(6):441-445.
|
||
Epub 2017 Mar 7
|
||
doi: 10.1111/ans.13919.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28266097" target="_blank">28266097</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26275868">Long-term outcome of sporadic and FAP-associated desmoid tumors treated with high-dose selective estrogen receptor modulators and sulindac: a single-center long-term observational study in 134 patients.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Quast DR,
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Schneider R,
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Burdzik E,
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Hoppe S,
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Möslein G</span><br />
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<span class="medgenPMjournal">Fam Cancer</span>
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2016 Jan;15(1):31-40.
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doi: 10.1007/s10689-015-9830-z.
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<span class="bold">PMID: </span><a href="/pubmed/26275868" target="_blank">26275868</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25878329">Gene Expression Profiling of Desmoid Tumors by cDNA Microarrays and Correlation with Progression-Free Survival.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Salas S,
|
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Brulard C,
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Terrier P,
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Ranchere-Vince D,
|
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Neuville A,
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Guillou L,
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Lae M,
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Leroux A,
|
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Verola O,
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Jean-Emmanuel K,
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Bonvalot S,
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Blay JY,
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Le Cesne A,
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Aurias A,
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Coindre JM,
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Chibon F</span><br />
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<span class="medgenPMjournal">Clin Cancer Res</span>
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2015 Sep 15;21(18):4194-200.
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Epub 2015 Apr 15
|
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doi: 10.1158/1078-0432.CCR-14-2910.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25878329" target="_blank">25878329</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25315103">Desmoid tumour in familial adenomatous polyposis patients: responses to treatments.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Desurmont T,
|
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Lefèvre JH,
|
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Shields C,
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Colas C,
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Tiret E,
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Parc Y</span><br />
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<span class="medgenPMjournal">Fam Cancer</span>
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2015 Mar;14(1):31-9.
|
||
doi: 10.1007/s10689-014-9760-1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25315103" target="_blank">25315103</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24020802">Small bowel obstruction in patients with familial adenomatous polyposis related desmoid disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Xhaja X,
|
||
Church J</span><br />
|
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<span class="medgenPMjournal">Colorectal Dis</span>
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||
2013 Dec;15(12):1489-92.
|
||
doi: 10.1111/codi.12416.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24020802" target="_blank">24020802</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Desmoid%20disease%2C%20hereditary%22%20AND%20Therapy%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (8)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/32505560">Presentation and Follow-up of Familial Adenomatous Polyposis: Differences Between APC and MUTYH Mutations.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bademci R,
|
||
Bollo J,
|
||
Ramón Y Cajal T,
|
||
Martínez MC,
|
||
Hernández MP,
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Targarona EM</span><br />
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<span class="medgenPMjournal">Cir Esp (Engl Ed)</span>
|
||
2020 Oct;98(8):465-471.
|
||
Epub 2020 Jun 3
|
||
doi: 10.1016/j.ciresp.2020.04.033.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32505560" target="_blank">32505560</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29901254">Novel intra-genic large deletions of CTNNB1 gene identified in WT desmoid-type fibromatosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Colombo C,
|
||
Urbini M,
|
||
Astolfi A,
|
||
Collini P,
|
||
Indio V,
|
||
Belfiore A,
|
||
Paielli N,
|
||
Perrone F,
|
||
Tarantino G,
|
||
Palassini E,
|
||
Fiore M,
|
||
Pession A,
|
||
Stacchiotti S,
|
||
Pantaleo MA,
|
||
Gronchi A</span><br />
|
||
<span class="medgenPMjournal">Genes Chromosomes Cancer</span>
|
||
2018 Oct;57(10):495-503.
|
||
Epub 2018 Aug 20
|
||
doi: 10.1002/gcc.22644.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29901254" target="_blank">29901254</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29621244">The cost-saving effect of centralized histological reviews with soft tissue and visceral sarcomas, GIST, and desmoid tumors: The experiences of the pathologists of the French Sarcoma Group.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Perrier L,
|
||
Rascle P,
|
||
Morelle M,
|
||
Toulmonde M,
|
||
Ranchere Vince D,
|
||
Le Cesne A,
|
||
Terrier P,
|
||
Neuville A,
|
||
Meeus P,
|
||
Farsi F,
|
||
Ducimetière F,
|
||
Blay JY,
|
||
Ray Coquard I,
|
||
Coindre JM</span><br />
|
||
<span class="medgenPMjournal">PLoS One</span>
|
||
2018;13(4):e0193330.
|
||
Epub 2018 Apr 5
|
||
doi: 10.1371/journal.pone.0193330.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29621244" target="_blank">29621244</a><a href="/pmc/articles/PMC5886412" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25751801">Desmoids and genotype in familial adenomatous polyposis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Church J,
|
||
Xhaja X,
|
||
LaGuardia L,
|
||
O'Malley M,
|
||
Burke C,
|
||
Kalady M</span><br />
|
||
<span class="medgenPMjournal">Dis Colon Rectum</span>
|
||
2015 Apr;58(4):444-8.
|
||
doi: 10.1097/DCR.0000000000000316.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25751801" target="_blank">25751801</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25264623">Is wide resection obsolete for desmoid tumors in children and adolescents? Evaluation of histological margins, immunohistochemical markers, and review of literature.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Woltsche N,
|
||
Gilg MM,
|
||
Fraissler L,
|
||
Liegl-Atzwanger B,
|
||
Beham A,
|
||
Lackner H,
|
||
Benesch M,
|
||
Leithner A</span><br />
|
||
<span class="medgenPMjournal">Pediatr Hematol Oncol</span>
|
||
2015 Feb;32(1):60-9.
|
||
Epub 2014 Sep 29
|
||
doi: 10.3109/08880018.2014.956905.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25264623" target="_blank">25264623</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Desmoid%20disease%2C%20hereditary%22%20AND%20Prognosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (13)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/33429825">Clinical application of next-generation sequencing for the management of desmoid tumors: A case report and literature review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lee JM,
|
||
Kim HG,
|
||
Shin SY,
|
||
Lee SH</span><br />
|
||
<span class="medgenPMjournal">Medicine (Baltimore)</span>
|
||
2021 Jan 8;100(1):e24238.
|
||
doi: 10.1097/MD.0000000000024238.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33429825" target="_blank">33429825</a><a href="/pmc/articles/PMC7793316" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29901254">Novel intra-genic large deletions of CTNNB1 gene identified in WT desmoid-type fibromatosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Colombo C,
|
||
Urbini M,
|
||
Astolfi A,
|
||
Collini P,
|
||
Indio V,
|
||
Belfiore A,
|
||
Paielli N,
|
||
Perrone F,
|
||
Tarantino G,
|
||
Palassini E,
|
||
Fiore M,
|
||
Pession A,
|
||
Stacchiotti S,
|
||
Pantaleo MA,
|
||
Gronchi A</span><br />
|
||
<span class="medgenPMjournal">Genes Chromosomes Cancer</span>
|
||
2018 Oct;57(10):495-503.
|
||
Epub 2018 Aug 20
|
||
doi: 10.1002/gcc.22644.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29901254" target="_blank">29901254</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29621244">The cost-saving effect of centralized histological reviews with soft tissue and visceral sarcomas, GIST, and desmoid tumors: The experiences of the pathologists of the French Sarcoma Group.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Perrier L,
|
||
Rascle P,
|
||
Morelle M,
|
||
Toulmonde M,
|
||
Ranchere Vince D,
|
||
Le Cesne A,
|
||
Terrier P,
|
||
Neuville A,
|
||
Meeus P,
|
||
Farsi F,
|
||
Ducimetière F,
|
||
Blay JY,
|
||
Ray Coquard I,
|
||
Coindre JM</span><br />
|
||
<span class="medgenPMjournal">PLoS One</span>
|
||
2018;13(4):e0193330.
|
||
Epub 2018 Apr 5
|
||
doi: 10.1371/journal.pone.0193330.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29621244" target="_blank">29621244</a><a href="/pmc/articles/PMC5886412" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25751801">Desmoids and genotype in familial adenomatous polyposis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Church J,
|
||
Xhaja X,
|
||
LaGuardia L,
|
||
O'Malley M,
|
||
Burke C,
|
||
Kalady M</span><br />
|
||
<span class="medgenPMjournal">Dis Colon Rectum</span>
|
||
2015 Apr;58(4):444-8.
|
||
doi: 10.1097/DCR.0000000000000316.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25751801" target="_blank">25751801</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25264623">Is wide resection obsolete for desmoid tumors in children and adolescents? Evaluation of histological margins, immunohistochemical markers, and review of literature.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Woltsche N,
|
||
Gilg MM,
|
||
Fraissler L,
|
||
Liegl-Atzwanger B,
|
||
Beham A,
|
||
Lackner H,
|
||
Benesch M,
|
||
Leithner A</span><br />
|
||
<span class="medgenPMjournal">Pediatr Hematol Oncol</span>
|
||
2015 Feb;32(1):60-9.
|
||
Epub 2014 Sep 29
|
||
doi: 10.3109/08880018.2014.956905.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25264623" target="_blank">25264623</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Desmoid%20disease%2C%20hereditary%22%20AND%20Clinical%20prediction%20guides%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (13)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
<div id="messagearea_bottom">
|
||
|
||
</div>
|
||
<div class=" bottom">
|
||
|
||
</div>
|
||
|
||
</div>
|
||
</div>
|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
||
|
||
<div>
|
||
|
||
<!-- MedGen supplemental column starts here -->
|
||
<div class="rightCol mgCol">
|
||
<div class="portlet mgSection" id="ID_113">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Table_of_contents">Table of contents</h1><a sid="113" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul id="my-toc"></ul></div>
|
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</div>
|
||
|
||
<div class="portlet mgSection" id="ID_106">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Genetic_Testing_Registry">Genetic Testing Registry</h1><a sid="106" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C1851124%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (35)</a></li>
|
||
<li><a href="/gtr/tests?term=C1851124%5bDISCUI%5d&filter=method%3A2%5F30" target="_blank">RNA analysis (1)</a></li>
|
||
<li><a href="/gtr/tests?term=C1851124%5bDISCUI%5d&filter=method%3A2%5F9" target="_blank">Sequence analysis of select exons (4)</a></li>
|
||
<li><a href="/gtr/tests?term=C1851124%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (33)</a></li>
|
||
<li><a href="/gtr/tests?term=C1851124%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (4)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C1851124%5bDISCUI%5d" target="_blank">See all (42)</a></total></li>
|
||
</ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_119">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_resources">Clinical resources</h1><a sid="119" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="https://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=135290" target="_blank">OMIM</a></li><li><a href="https://clinicaltrials.gov/search?cond=Desmoid%20disease,%20hereditary" target="_blank">ClinicalTrials.gov</a></li></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_121">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Practice_guidelines">Practice guidelines</h1><a sid="121" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(desmoid%20disease%2C%20hereditary)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">PubMed</a><div class="help-popup">See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li><li><a target="_blank" href="/books/?term=((%22clinical%20guidelines%22%5BResource%20Type%5D)%20OR%20%22practice%20guideline%22%5BPublication%20Type%5D)%20AND%20(%22Desmoid%20disease%2C%20hereditary%22)">Bookshelf</a><div class="help-popup">See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></ul></div>
|
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|
||
|
||
<div class="portlet mgSection" id="ID_115">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Molecular_resources">Molecular resources</h1><a sid="115" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul><li><a href="http://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=611731" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=324[geneid]" target="_blank">View APC variations in ClinVar</a></li><li><a href="/nuccore/299116992" target="_blank">RefSeqGene</a></li><li><a href="https://catalog.coriell.org/Search?q=135290" target="_blank">Coriell Institute for Medical Research</a></li></ul></div>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Consumer_resources">Consumer resources</h1><a sid="116" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul><li><a href="http://www.diseaseinfosearch.org/Desmoid+Disease%2C+Hereditary/2216" target="_blank">Genetic Alliance</a></li><li><a href="https://www.malacards.org/card/desmoid_disease_hereditary" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Desmoid%20disease,%20hereditary" target="_blank">MedlinePlus</a></li><li><a href="#" class="jig-ncbipopper results_settings" role="button" aria-expanded="false" aria-haspopup="true" data-jigconfig="triggerPosition : 'bottom center',destPosition : 'top center', hasArrow : false,openEvent : 'click',closeEvent : 'click',isTriggerElementCloseClick: false, addCloseButton : false, groupName: 'entrez_pg',destSelector : '#ghrPopup'">MedlinePlusGenetics (GHR)<span class="tgt_dark"></span></a></li></ul><div id="ghrPopup" aria-live="assertive" aria-hidden="true" style="display: none;" class="portlet_popup tabPopper ui-helper-reset ui-ncbipopper-wrapper ui-ncbipopper-basic"><ul class="column_list"><li><a target="_blank" href="https://medlineplus.gov/genetics/condition/desmoid-tumor">Desmoid tumor</a></li><li><a target="_blank" href="https://medlineplus.gov/genetics/condition/familial-adenomatous-polyposis">Familial adenomatous polyposis</a></li></ul></div></div>
|
||
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<h3>Reviews</h3>
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||
<a href="/pubmed/20301519" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=3" target="_blank"><span class="gene_reviews">GeneReviews</span></a>
|
||
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|
||
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|
||
<a href="/pubmed/clinical?term=Desmoid%20disease,%20hereditary" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=2&linkpostotal=3" target="_blank">PubMed Clinical Queries</a>
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|
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|
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<a href="/pubmed?term=Desmoid%20disease,%20hereditary%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=3&linkpostotal=3" target="_blank">Reviews in PubMed</a>
|
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|
||
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|
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|
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|
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<div class="brieflinkpop offscreen_noflow">Related medical variations</div>
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<a class="brieflinkpopperctrl" href="/gene?LinkName=medgen_gene_diseases&from_uid=338210" ref="log$=recordlinks">Gene</a>
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<div class="brieflinkpop offscreen_noflow">Related information in GTR</div>
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<a class="brieflinkpopperctrl" href="/gtr/tests?term=C1851124[DISCUI]&test_type=Clinical" ref="log$=recordlinks">GTR(Clinical)</a>
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<div class="brieflinkpop offscreen_noflow">Clinical tests in GTR</div>
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<a class="brieflinkpopperctrl" href="/mesh?LinkName=medgen_mesh&from_uid=338210" ref="log$=recordlinks">MeSH</a>
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|
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|
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<div class="brieflinkpop offscreen_noflow">Links to PubMed based on citations in GeneReviews and Medical Genetics Summaries</div>
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<li class="brieflinkpopper">
|
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<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed_genereviews&from_uid=338210" ref="log$=recordlinks">PubMed (GeneReviews)</a>
|
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<div class="brieflinkpop offscreen_noflow">GeneReviews in PubMed</div>
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</li>
|
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<li class="brieflinkpopper">
|
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<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed_omim&from_uid=338210" ref="log$=recordlinks">PubMed (OMIM)</a>
|
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<div class="brieflinkpop offscreen_noflow">Related literature resources in PubMed</div>
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|
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Turn Off
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=1" href="/portal/utils/pageresolver.fcgi?recordid=67cc34f0a68b6b5afcaa73dc">Desmoid disease, hereditary</a>
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<div class="ralinkpop offscreen_noflow">Desmoid disease, hereditary<div class="brieflinkpopdesc"></div></div>
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<div class="tertiary">MedGen</div>
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<a class="htb" ref="log$=activity&linkpos=2" href="/portal/utils/pageresolver.fcgi?recordid=67cc34edb15b832ebc2e4697">C1851124[conceptid] <span class="number">(1)</span></a>
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=3" href="/portal/utils/pageresolver.fcgi?recordid=67cc34ecb15b832ebc2e448b">C1832370[trait identifier] AND "Fulgent Genetics, Fulgent Genetic... <span class="number">(59)</span></a>
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<div class="ralinkpop offscreen_noflow">C1832370[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[submitter]<div class="brieflinkpopdesc">Search</div></div>
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=4" href="/portal/utils/pageresolver.fcgi?recordid=67cc34ebf4a390645e76a08b">C4014294[trait identifier] AND "Fulgent Genetics, Fulgent Genetic... <span class="number">(3)</span></a>
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<div class="ralinkpop offscreen_noflow">C4014294[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[submitter]<div class="brieflinkpopdesc">Search</div></div>
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=5" href="/portal/utils/pageresolver.fcgi?recordid=67cc34eaf4a390645e769a4e">Desbuquois dysplasia 2</a>
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