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.
| Bidragets oversatte titel | A new genetic diagnosis of familiar gastrointestinal stromal tumour |
|---|---|
| Originalsprog | Dansk |
| Tidsskrift | Ugeskrift for Laeger |
| Vol/bind | 174 |
| Udgave nummer | 21 |
| Sider (fra-til) | 1462-4 |
| Antal sider | 3 |
| ISSN | 0041-5782 |
| Status | Udgivet - 2012 |
Emneord
- Aged
- Antineoplastic Agents
- Family
- Fatal Outcome
- Female
- Gastrointestinal Stromal Tumors
- Genetic Predisposition to Disease
- Germ-Line Mutation
- Humans
- Intestinal Neoplasms
- Male
- Middle Aged
- Mutation, Missense
- Pigmentation Disorders
- Piperazines
- Proto-Oncogene Proteins c-kit
- Pyrimidines