[A new genetic diagnosis of familiar gastrointestinal stromal tumour].
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.
Klinisk Genetisk Afdeling, Rigshospitalet, Blegdamsvej 9, 2100 København Ø. karin.wadt@rh.regionh.dk
Karin
K
Wadt
Mette Klarskov
MK
Andersen
Thomas V O
TV
Hansen
Anne-Marie
AM
Gerdes
D000368:Aged; D000970:Antineoplastic Agents / Q000627:therapeutic use; D001549:Benzamides; D005190:Family; D017809:Fatal Outcome; D005260:Female; D046152:Gastrointestinal Stromal Tumors / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics*; D020022:Genetic Predisposition to Disease; D018095:Germ-Line Mutation; D006801:Humans; D000068877:Imatinib Mesylate; D007414:Intestinal Neoplasms / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D020125:Mutation, Missense; D010859:Pigmentation Disorders / Q000235:genetics; D010879:Piperazines / Q000627:therapeutic use; D019009:Proto-Oncogene Proteins c-kit / Q000235:genetics*; D011743:Pyrimidines / Q000627:therapeutic use
D000970:Antineoplastic Agents; D001549:Benzamides; D010879:Piperazines; D011743:Pyrimidines; D000068877:Imatinib Mesylate; D019009:Proto-Oncogene Proteins c-kit