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

Aurelio Negro, Davide Nicoli, Alberto Cavazza, Rosaria Santi, Stefano Bonilauri, Enrico Farnetti, Michele Panebianco


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


Carney-Stratakis syndrome

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