Familial multiple cervical paragangliomas: report of a kindred and review of the literature

Abstract

Heredofamilial paragangliomas account for less than 10% of those arising in the head and neck. Multiplicity, multicentricity, and bilaterality is roughly three times more common than in the spontaneous variety. Not unlike other hereditary neuroendocrine tumor syndromes, familial paragangliomas appear to follow an autosomal dominant transmission, with variable penetrance and expressivity. This article describes a surgical experience with nine bilateral, multicentric cervical paragangliomas (7 carotid body, 1 vagal, and 1 sympathetic) occurring in four siblings less than 35 years of age. The literature on familial paragangliomas of the head and neck is reviewed. The postulated genetic mechanisms accounting for these and other hereditary tumors are discussed. The clinical and surgical aspects of spontaneous and familial paragangliomas are compared.