, SDH-deficient tumors, and Sdhb+/- mice share abnormal mitochondria.
Wardelmann et al., "A new case of Carney triad
: gastrointestinal stromal tumours and leiomyoma of the oesophagus do not show activating mutations of KIT and platelet-derived growth factor receptor a," Journal of Clinical Pathology, vol.
Ahlman, "Use of 2-tracer PET to diagnose gastrointestinal stromal tumour and pheochromocytoma in patients with Carney triad
and neurofibromatosis type 1," Scandinavian Journal of Gastroenterology, vol.41, no.5, pp.626-630,2006.
(101-103) Wild-type GISTs also include those tumors arising in the Carney triad
, the Carney-Stratakis syndrome, and neurofibromatosis 1 (NF1).
Gastrointestinal stromal tumors are associated with type 1 neurofibromatosis (NF1; von Recklinghausen disease), Carney-Stratakis syndrome, Carney triad
, and familial GIST syndrome.
and Carney-Stratakis syndrome are 2 other syndromes that are predisposed toward GISTs.
Multiplicity of gastrointestinal stromal tumors, even when they are part of a syndrome, is very uncommon and has been reported in only a few cases of leiomyosarcomas and gastrointestinal autonomic nerve tumors.[2-4] Multiple gastrointestinal stromal tumors have been encountered in patients with MEN IIb syndrome, Carney triad
, or neurofibromatosis type I.