1. [A new genetic diagnosis of familiar gastrointestinal stromal tumour]
- Author
-
Karin, Wadt, Mette Klarskov, Andersen, Thomas V O, Hansen, and Anne-Marie, Gerdes
- Subjects
Male ,Gastrointestinal Stromal Tumors ,Mutation, Missense ,Antineoplastic Agents ,Middle Aged ,Piperazines ,Proto-Oncogene Proteins c-kit ,Fatal Outcome ,Pyrimidines ,Benzamides ,Intestinal Neoplasms ,Imatinib Mesylate ,Humans ,Family ,Female ,Genetic Predisposition to Disease ,Pigmentation Disorders ,Germ-Line Mutation ,Aged - Abstract
Gastrointestinal stromal tumours (GIST) are the most common mesenchymal tumours of the gastrointestinal tract. Familial GIST with autosomal dominant inheritance and mutation in c-KIT or PDGFR-α, are rare and characterized by multiple GIST, relatively young age at diagnosis and hyperplasia of the interstitial cells of Cajal. Around twenty families with germ line mutations in c-KIT and three families with mutations in PDGFR-α have previously been published. In this case we present a family with familial GIST and mutation in c-KIT.
- Published
- 2012