Somatic mutation profiling in head and neck paragangliomas. Homo sapiens

Head and neck (HN) paragangliomas (PGLs) are rare neoplasms arising from the parasympathetic nervous system in the head and neck. PGLs carry the highest degree of heritability among all human tumors. Nevertheless, PGLs present as polygenic diseases caused by combined alterations in multiple genes. Currently, about twenty different genes have been described to be associated with hereditary HNPGLs, however, other participants remain unknown. In this study, we analyzed profiles of germline and somatic mutations in HNPGLs. Whole-exome sequencing of 42 tumors (27 carotid and 15 vagal PGLs) and paired normal tissues obtained from Russian patients with HNPGLs was carried out.