Familial Gastrointestinal Stromal Tumors and Germ-Line Mutations

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Abstract
Gastrointestinal stromal tumors may be sporadic or inherited in an autosomal dominant manner, alone or as a component of a syndrome associated with other tumors, such as in the context of neurofibromatosis type 1.1 We have described seven male and five female patients (median age, 23 years) from five unrelated families who had both gastrointestinal stromal tumors and paragangliomas. Susceptibility to the tumors was inherited in an apparently autosomal dominant manner, with incomplete penetrance.2 This condition has been referred to as “the dyad of paraganglioma and gastrointestinal stromal tumors” or the “Carney–Stratakis syndrome” (or “Carney–Stratakis dyad”).3