A Rare Case of Carney-Stratakis Syndrome in a Patient With SDHA Mutation

Abstract

Paragangliomas (PGLs) and pheochromocytomas (PCCs) are rare tumors that originate from the neuroendocrine tissue along the paravertebral axis. Up to 35% of these tumors may be hereditary either alone or as a component of a multiple tumor syndrome. The gastrointestinal stromal tumors (GISTs) are the most common mesenchymal neoplasms of the gastrointestinal tract. Most GISTs are driven by gain-of-function mutations in KIT (75-80%) or platelet-derived growth factor receptor-alpha (PDGFRA) (10%). Approximately 15% of GISTs occurring in adults with no KIT or PDGFRA mutations are thermed "wild-type" GISTs. Succinate dehydrogenase (SDH) mutations may contribute to occurrence of wild-type tumors. In 2002, Carney and Stratakis described a new familiar syndrome (CSS) of PGLs/PCCs and GIST caused by germline mutations in SDH. SDH may act as a tumor suppressor gene, and its defects may be oncogenic. In most of CSS cases, the mutations involve the SDHB/C/D subunits; SDHA mutations are reported but extremely rare. We report a case of CSS with a solitary GIST and an incidentally discovered silent PCC harboring an SDHA mutation.




J Med Cases. 2017;8(6):191-195
doi: https://doi.org/10.14740/jmc2831w