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Familial gastrointestinal stromal tumor with germ line mutation of the juxtamembrane domain of the KIT gene observed in relatively young women.
- Source :
-
Annals of diagnostic pathology [Ann Diagn Pathol] 2011 Oct; Vol. 15 (5), pp. 358-61. Date of Electronic Publication: 2010 Jul 20. - Publication Year :
- 2011
-
Abstract
- Familial gastrointestinal stromal tumor (GIST) is an extremely rare autosomal dominant disorder, and approximately 20 families have been reported to date. In this article, we present one additional family. A 25-year-old Japanese woman presented with abdominal pain, and subsequent image analyses disclosed multiple tumors measuring 12 cm in maximum diameter in the lower digestive tract. The postoperative histologic examination showed multiple GISTs and diffuse hyperplasia of interstitial cells of Cajal. Her mother had a history of GIST in the digestive tract. Three members of this family including her younger sister and mother had cutaneous hyperpigmentation of external genitalia and axilla. Their DNA samples showed identical missense mutation at exon 11 in the juxtamembrane domain of the KIT gene, and this mutation site was considered to be a hot spot in familial GIST. One year after, her younger sister suffered from multiple GISTs in the digestive tract at the age of 25 years. To correctly diagnose familial GIST, mutual information should be exchanged among clinicians, pathologists, and molecular scientists.<br /> (Copyright © 2011 Elsevier Inc. All rights reserved.)
- Subjects :
- Adult
Female
Gastrointestinal Neoplasms pathology
Gastrointestinal Neoplasms physiopathology
Gastrointestinal Stromal Tumors pathology
Gastrointestinal Stromal Tumors physiopathology
Germ-Line Mutation
Humans
Hyperplasia
Interstitial Cells of Cajal pathology
Exons genetics
Gastrointestinal Neoplasms genetics
Gastrointestinal Stromal Tumors genetics
Mutation, Missense
Proto-Oncogene Proteins c-kit genetics
Subjects
Details
- Language :
- English
- ISSN :
- 1532-8198
- Volume :
- 15
- Issue :
- 5
- Database :
- MEDLINE
- Journal :
- Annals of diagnostic pathology
- Publication Type :
- Academic Journal
- Accession number :
- 20952281
- Full Text :
- https://doi.org/10.1016/j.anndiagpath.2010.05.003