High Frequency of Germline SDHB and SDHD Mutations in Apparently Sporadic Head and Neck Paragangliomas from Spain

Abstract

Introduction: Paragangliomas are neuroendocrine tumors originated in paraganglia of the autonomic nervous system. These are rare tumors, but their prevalence in northern Spain, particularly in the region of Asturias, is high. Familial paragangliomas have recently been shown to be associated with germline alterations in SDHD, SDHB, and SDHC, which are genes that code for three subunits (SDHD, SDHB, and SDHC) of succinate dehydrogenase (SDH). Moreover, some sporadic cases also showed germline alterations in these genes, suggesting an “occult” familial condition. We sought to determine if the higher prevalence of paragangliomas in northern Spain was associated with a high frequency of germline alterations in SDHD and SDHB genes.