| pubmed-article:20606738 | rdf:type | pubmed:Citation | lld:pubmed |
| pubmed-article:20606738 | lifeskim:mentions | umls-concept:C0439660 | lld:lifeskim |
| pubmed-article:20606738 | lifeskim:mentions | umls-concept:C0225358 | lld:lifeskim |
| pubmed-article:20606738 | lifeskim:mentions | umls-concept:C0238198 | lld:lifeskim |
| pubmed-article:20606738 | lifeskim:mentions | umls-concept:C1512901 | lld:lifeskim |
| pubmed-article:20606738 | lifeskim:mentions | umls-concept:C0205127 | lld:lifeskim |
| pubmed-article:20606738 | lifeskim:mentions | umls-concept:C0020507 | lld:lifeskim |
| pubmed-article:20606738 | lifeskim:mentions | umls-concept:C0039082 | lld:lifeskim |
| pubmed-article:20606738 | lifeskim:mentions | umls-concept:C0011906 | lld:lifeskim |
| pubmed-article:20606738 | lifeskim:mentions | umls-concept:C0018270 | lld:lifeskim |
| pubmed-article:20606738 | lifeskim:mentions | umls-concept:C0205219 | lld:lifeskim |
| pubmed-article:20606738 | lifeskim:mentions | umls-concept:C0205422 | lld:lifeskim |
| pubmed-article:20606738 | lifeskim:mentions | umls-concept:C0205288 | lld:lifeskim |
| pubmed-article:20606738 | lifeskim:mentions | umls-concept:C0205122 | lld:lifeskim |
| pubmed-article:20606738 | lifeskim:mentions | umls-concept:C2700116 | lld:lifeskim |
| pubmed-article:20606738 | pubmed:issue | 5 | lld:pubmed |
| pubmed-article:20606738 | pubmed:dateCreated | 2010-7-7 | lld:pubmed |
| pubmed-article:20606738 | pubmed:abstractText | Gastrointestinal stromal tumors (GIST) usually form a well-circumscribed mass. However, patients with germline mutations in c-KIT, PDGFRA and NF1 may present with diffuse interstitial cell of Cajal (ICC) hyperplasia along the Auer-bach plexus without forming a discrete mass. To our knowledge, sporadic diffuse ICC hyperplasia replacing the gut wall has not been described previously. We describe herein two such cases. Case 1 was a 59-yr-old woman who presented with signs of ileus and a large mass submitted as Meckel diverticulum. The resection specimen showed a large GIST with diverticulum-like and solid areas. The diverticular component showed a diffuse proliferation of spindle cells extending for several centimetres from the solid tumor replacing the full thickness of the gut wall and lined by intact mucosa. Mutation analysis revealed a combined deletion/insertion in c-KIT exon 11 (V560delEins) in both the solid and the diffuse tumor component. Case 2 was a 66-yr-old man who underwent segmental sigmoid colon resection for adenocarcinoma in a villous adenoma. Random sections from grossly unremarkable colonic wall showed a diffuse proliferation of CD117+/CD34+ spindle cells completely replacing the muscularis propria for a length of 6 mm. Molecular analysis revealed a somatic point mutation/ deletion in exon 11 of c-KIT (Q575L; L576_W582del). Absence of multiple lesions and demonstration of a wild-type sequence for c-KIT in surrounding normal tissue ruled out the possibility of a germline mutation in both cases. This peculiar diffuse form of sporadic ICC hyperplasia results from somatic c-KIT mutations and must be distinguished from syndromic ICC hyperplasia associated with hereditary GIST syndromes. | lld:pubmed |
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| pubmed-article:20606738 | pubmed:language | eng | lld:pubmed |
| pubmed-article:20606738 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:20606738 | pubmed:citationSubset | IM | lld:pubmed |
| pubmed-article:20606738 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:20606738 | pubmed:status | MEDLINE | lld:pubmed |
| pubmed-article:20606738 | pubmed:issn | 1936-2625 | lld:pubmed |
| pubmed-article:20606738 | pubmed:author | pubmed-author:HartmannArndt... | lld:pubmed |
| pubmed-article:20606738 | pubmed:author | pubmed-author:Schneider-Sto... | lld:pubmed |
| pubmed-article:20606738 | pubmed:author | pubmed-author:ChettyRunjanR | lld:pubmed |
| pubmed-article:20606738 | pubmed:author | pubmed-author:MärklBrunoB | lld:pubmed |
| pubmed-article:20606738 | pubmed:author | pubmed-author:ArnholdtHansH | lld:pubmed |
| pubmed-article:20606738 | pubmed:author | pubmed-author:AgaimyAbbasA | lld:pubmed |
| pubmed-article:20606738 | pubmed:issnType | Electronic | lld:pubmed |
| pubmed-article:20606738 | pubmed:volume | 3 | lld:pubmed |
| pubmed-article:20606738 | pubmed:owner | NLM | lld:pubmed |
| pubmed-article:20606738 | pubmed:authorsComplete | Y | lld:pubmed |
| pubmed-article:20606738 | pubmed:pagination | 549-56 | lld:pubmed |
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| pubmed-article:20606738 | pubmed:meshHeading | pubmed-meshheading:20606738... | lld:pubmed |
| pubmed-article:20606738 | pubmed:meshHeading | pubmed-meshheading:20606738... | lld:pubmed |
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| pubmed-article:20606738 | pubmed:meshHeading | pubmed-meshheading:20606738... | lld:pubmed |
| pubmed-article:20606738 | pubmed:year | 2010 | lld:pubmed |
| pubmed-article:20606738 | pubmed:articleTitle | Sporadic segmental Interstitial cell of cajal hyperplasia (microscopic GIST) with unusual diffuse longitudinal growth replacing the muscularis propria: differential diagnosis to hereditary GIST syndromes. | lld:pubmed |
| pubmed-article:20606738 | pubmed:affiliation | Institute of Pathology, University Hospital, Erlangen, Germany. abbas.agaimy@uk-erlangen.de | lld:pubmed |
| pubmed-article:20606738 | pubmed:publicationType | Journal Article | lld:pubmed |
| pubmed-article:20606738 | pubmed:publicationType | Case Reports | lld:pubmed |
| entrez-gene:3815 | entrezgene:pubmed | pubmed-article:20606738 | lld:entrezgene |
| http://linkedlifedata.com/r... | entrezgene:pubmed | pubmed-article:20606738 | lld:entrezgene |
