Hereditary pheochromocytoma and paraganglioma.
Hereditary pheochromocytomas (pheo) and paragangliomas (pgl) are caused by identifiable germline mutations. The previously well-known associated syndromes include neurofibromatosis type 1, multiple endocrine neoplasia 2 A and B, and von Hippel-Lindau syndrome. Newly discovered mutations in the succinate dehydrogenase gene complex have been identified as a cause of inherited pgls and pheos. It is now clear that up to 30% of patients presenting with sporadic pheos/pgls harbor a recognizable germline mutation, and therefore directed genetic testing is recommended for many of these patients.
University Surgical Associates, Rhode Island Hospital, Providence 02906, USA. pmazzaglia@lifespan.org
Peter J
PJ
Mazzaglia
D000310:Adrenal Gland Neoplasms / Q000175:diagnosis / Q000235:genetics* / Q000628:therapy; D020022:Genetic Predisposition to Disease; D006801:Humans; D010235:Paraganglioma / Q000175:diagnosis / Q000235:genetics* / Q000628:therapy; D010673:Pheochromocytoma / Q000175:diagnosis / Q000235:genetics* / Q000628:therapy