Succinate dehydrogenase-deficient GISTs: a clinicopathologic, immunohistochemical, and molecular genetic study of 66 gastric GISTs with predilection to young age

M Miettinen, ZF Wang, M Sarlomo-Rikala… - The American journal …, 2011 - journals.lww.com
Most gastrointestinal stromal tumors (GISTs) are driven by KIT or PDGFRA-activating
mutations, but a small subset is associated with loss of function of the succinate
dehydrogenase (SDH) complex of mitochondrial inner membrane proteins. This occurs by
germline mutations of the SDH subunit genes and hitherto unknown mechanisms. SDH-
deficient GISTs especially include pediatric GISTs and those associated with Carney triad
(CT) or Carney-Stratakis syndromes (CSSs); the latter 2 also include paraganglioma as a …