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.