Dysphagia, melanosis, gastrointestinal stromal tumors and a germinal mutation of the KIT gene in an Argentine family / Dysphagia, melanosis, gastrointestinal stromal tumors and a germinal mutation of the KIT gene in an Argentine family.
Acta gastroenterol. latinoam
;
44(1): 9-15, 2014 Mar.
Article
in Spanish
| LILACS, BINACIS
| ID: biblio-1157430
ABSTRACT
Gastrointestinal stromal tumors (GIST) are the most common mesenchymatous neoplasms of the human digestive tract. They locate preferentially in stomach, duodenum or small bowel. Usually sporadic, familial cases unrelated to neurofibromatosis may be due to germline mutations in KIT or PDGFRA. We describe the first Argentine family with GIST in which we found, diffuse cutaneous melanosis, lentiginosis, and dysphagia. Dysphagia was not observed in the four families previously described with the same mutation. Histopathology resulted consistent with GIST, and tumor immunohistochemistry was likewise positive for DOG-1, CD117 (KIT) and CD34. The search for germline mutations identified the KIT c.1697T > C (p.559V > A) substitution in exon 11. Treatment with imatinib is furnishing positive results.
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Index:
LILACS (Americas)
Main subject:
Deglutition Disorders
/
Germ-Line Mutation
/
Proto-Oncogene Proteins c-kit
/
Gastrointestinal Stromal Tumors
/
Melanosis
Type of study:
Diagnostic study
/
Prognostic study
Country/Region as subject:
South America
/
Argentina
Language:
Spanish
Journal:
Acta gastroenterol. latinoam
Journal subject:
Gastroenterology
Year:
2014
Type:
Article
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