Genetic basis of phaeochromocytoma and paraganglioma

Abstract

Advances in the knowledge of the genetics of phaeochromocytoma have broadened our understanding about the mechanisms of tumorigenesis. Formerly it was believed that 10% of phaeochromocytomas were associated with familial cancer syndromes, but it is now recognised that up to 30% of these tumours may be familial. In particular, attention has been focused on those patients with apparently sporadic presentations where 12-24% of patients have been shown to carry germline mutations indicating hereditary disease. Consideration of genetic testing is now recommended for all apparently sporadic cases and, following the identification of a mutation-positive carrier, the offering of genetic testing to first degree relatives. There is a need for lifelong follow up of affected individuals and asymptomatic mutation-positive carriers, but validation of screening protocols has yet to be determined.