Germline Mutations of the TMEM127 Gene in Patients with Paraganglioma of Head and Neck and Extraadrenal Abdominal Sites

Abstract

TMEM127 germline mutations confer risks of extraadrenal paraganglial tumors in addition to the documented adrenal pheochromocytoma. Thus, surveillance for extraadrenal and adrenal paraganglial tumors is likely warranted in TMEM127 mutation carriers, although the true prevalence should be evaluated in patients with extraadrenal paraganglial tumors.