Inherited mutations in pheochromocytoma and paraganglioma: why all patients should be offered genetic testing.

ABSTRACT:

Background

Pheochromocytomas (PCC) and paragangliomas (PGL) are neuroendocrine tumors that, although rare, are an important cause of secondary hypertension because of the high morbidity and mortality. PCC/PGL are still thought of as the "tumor of tens," with 10 % being hereditary; however, recent population based studies suggest that up to 32 % of patients have a germline mutation in one of the known common susceptibility genes (including NF1, VHL, RET, SDHB, SDHD, and SDHC). Despite this, most patients in the United States are not referred for clinical genetic testing by their physicians. We aimed to examine the mutation prevalence in a clinic-based population in the United States.

Methods

We performed a retrospective chart review of 139 consecutive patients with PCC/PGL fr

SUBMITTER: Fishbein L 

PROVIDER: S-EPMC4291281 | biostudies-literature | 2013 May

REPOSITORIES: biostudies-literature