Carney-Stratakis syndrome

Carney-Stratakis syndrome is a congenital disorder characterized by the combination of gastrointestinal stromal tumors (GIST) and paragangliomas.

The age of manifestation is usually around 19 years. Both sexes seem to be equally affected.

The patients have multifocal GIST and multicentral paragangliomas. Gastrointestinal stromal tumors arise from stem cells that take on the characteristics of interstitial cells of Cajal. In the sympathetic nervous system, paragangliomas are produced from cells of the paraganglia.

Paragangliomas appear without increased secretion and are usually benign tumors. In most patients with Carney-Stratakis syndrome, germ line mutations can be detected in the genes SDHB, SDHC and SDHD.

The predisposition for the development of tumors is autosomal dominant with incomplete penetrance.