The Genetic Background of Head and Neck Paragangliomas

Abstract

Familial paraganglioma of the head and neck (HNP) has been a known entity for decades. Publications in 2000 and 2001 showed that mutations of the genes encoding the succinate dehydrogenase subunits B, C, and D, SDHB, SDHC, and SDHD, predispose to paraganglioma syndromes type 4, 3, and 1, respectively (PGL 1, PGL 3, PGL 4). PGL 1 tumors occurred only in offspring who inherited the mutation from the father, whereas PGL 3 and 4 are transmitted autosomal dominantly. We have established a national registry which was extended by cases from other countries for HNP in order to study the prevalence and clinical spectrum of SDHB, SDHC, and SDHD mutation carriers.