Ny genteknologisk diagnostik af familiær gastrointestinal stromal tumor

TY - JOUR

T1 - Ny genteknologisk diagnostik af familiær gastrointestinal stromal tumor

AU - Wadt, Karin

AU - Andersen, Mette Klarskov

AU - Hansen, Thomas V O

AU - Gerdes, Anne-Marie

PY - 2012

Y1 - 2012

N2 - 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.

AB - 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.

M3 - Tidsskriftartikel

SN - 0041-5782

VL - 174

SP - 1462

EP - 1464

JO - Ugeskrift for Laeger

JF - Ugeskrift for Laeger

IS - 21

ER -