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rdf:type |
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lifeskim:mentions |
umls-concept:C0011906,
umls-concept:C0018270,
umls-concept:C0020507,
umls-concept:C0039082,
umls-concept:C0205122,
umls-concept:C0205127,
umls-concept:C0205219,
umls-concept:C0205288,
umls-concept:C0205422,
umls-concept:C0225358,
umls-concept:C0238198,
umls-concept:C0439660,
umls-concept:C1512901,
umls-concept:C2700116
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pubmed:issue |
5
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pubmed:dateCreated |
2010-7-7
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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.
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pubmed:commentsCorrections |
http://linkedlifedata.com/resource/pubmed/commentcorrection/20606738-10680913,
http://linkedlifedata.com/resource/pubmed/commentcorrection/20606738-11075862,
http://linkedlifedata.com/resource/pubmed/commentcorrection/20606738-11850541,
http://linkedlifedata.com/resource/pubmed/commentcorrection/20606738-12000708,
http://linkedlifedata.com/resource/pubmed/commentcorrection/20606738-12427778,
http://linkedlifedata.com/resource/pubmed/commentcorrection/20606738-12522257,
http://linkedlifedata.com/resource/pubmed/commentcorrection/20606738-14694524,
http://linkedlifedata.com/resource/pubmed/commentcorrection/20606738-14699510,
http://linkedlifedata.com/resource/pubmed/commentcorrection/20606738-15131046,
http://linkedlifedata.com/resource/pubmed/commentcorrection/20606738-15269295,
http://linkedlifedata.com/resource/pubmed/commentcorrection/20606738-15648083,
http://linkedlifedata.com/resource/pubmed/commentcorrection/20606738-16308708,
http://linkedlifedata.com/resource/pubmed/commentcorrection/20606738-16330947,
http://linkedlifedata.com/resource/pubmed/commentcorrection/20606738-16402273,
http://linkedlifedata.com/resource/pubmed/commentcorrection/20606738-16996566,
http://linkedlifedata.com/resource/pubmed/commentcorrection/20606738-17193820,
http://linkedlifedata.com/resource/pubmed/commentcorrection/20606738-17197927,
http://linkedlifedata.com/resource/pubmed/commentcorrection/20606738-17222247,
http://linkedlifedata.com/resource/pubmed/commentcorrection/20606738-17527083,
http://linkedlifedata.com/resource/pubmed/commentcorrection/20606738-17611891,
http://linkedlifedata.com/resource/pubmed/commentcorrection/20606738-18038309,
http://linkedlifedata.com/resource/pubmed/commentcorrection/20606738-18059218,
http://linkedlifedata.com/resource/pubmed/commentcorrection/20606738-18183595,
http://linkedlifedata.com/resource/pubmed/commentcorrection/20606738-18408593,
http://linkedlifedata.com/resource/pubmed/commentcorrection/20606738-18724245,
http://linkedlifedata.com/resource/pubmed/commentcorrection/20606738-19309498,
http://linkedlifedata.com/resource/pubmed/commentcorrection/20606738-19358482,
http://linkedlifedata.com/resource/pubmed/commentcorrection/20606738-19572146,
http://linkedlifedata.com/resource/pubmed/commentcorrection/20606738-8317611,
http://linkedlifedata.com/resource/pubmed/commentcorrection/20606738-9438854,
http://linkedlifedata.com/resource/pubmed/commentcorrection/20606738-9588894
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:issn |
1936-2625
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pubmed:author |
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pubmed:issnType |
Electronic
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pubmed:volume |
3
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
549-56
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pubmed:meshHeading |
pubmed-meshheading:20606738-Aged,
pubmed-meshheading:20606738-Diagnosis, Differential,
pubmed-meshheading:20606738-Digestive System Surgical Procedures,
pubmed-meshheading:20606738-Female,
pubmed-meshheading:20606738-Gastrointestinal Stromal Tumors,
pubmed-meshheading:20606738-Humans,
pubmed-meshheading:20606738-Hyperplasia,
pubmed-meshheading:20606738-Interstitial Cells of Cajal,
pubmed-meshheading:20606738-Intestinal Mucosa,
pubmed-meshheading:20606738-Male,
pubmed-meshheading:20606738-Middle Aged,
pubmed-meshheading:20606738-Polymerase Chain Reaction,
pubmed-meshheading:20606738-Proto-Oncogene Proteins c-kit
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pubmed:year |
2010
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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.
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pubmed:affiliation |
Institute of Pathology, University Hospital, Erlangen, Germany. abbas.agaimy@uk-erlangen.de
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pubmed:publicationType |
Journal Article,
Case Reports
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