Ny genteknologisk diagnostik af familiær gastrointestinal stromal tumor
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Ny genteknologisk diagnostik af familiær gastrointestinal stromal tumor. / Wadt, Karin; Andersen, Mette Klarskov; Hansen, Thomas V O; Gerdes, Anne-Marie.
I: Ugeskrift for Laeger, Bind 174, Nr. 21, 2012, s. 1462-4.Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › fagfællebedømt
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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
VL - 174
SP - 1462
EP - 1464
JO - Ugeskrift for Laeger
JF - Ugeskrift for Laeger
SN - 0041-5782
IS - 21
ER -
ID: 48450221