Paragangliomas are highly vascularised and often heritable tumours derived from paraganglia, a diffuse neuroendocrine system dispersed from skull base to the pelvic floor. The carotid body, a small
oxygen sensing organ located at the bifurcation of the carotid artery in the head and neck and the adrenal medulla in the abdomen, are the most common tumour sites. It now appears that mutations in SDHB, SDHC, and SDHD, which encode subunits of mitochondrial complex II (
succinate dehydrogenase;
succinate-ubiquinone oxidoreductase), are responsible for the majority of familial
paragangliomas and also for a significant fraction of non-familial tumours. Germline mutations in complex II genes are associated with the development of
paragangliomas in diverse anatomical locations, including phaeochromocytomas, a finding that has important implications for the clinical management of patients and genetic counselling of families. Consequently, patients with a
paraganglioma tumour, including phaeochromocytoma, and a complex II germline mutation should be diagnosed with hereditary
paraganglioma, regardless of family history, anatomical location, or multiplicity of tumours. This short review attempts to bring together relevant genetic data on
paragangliomas with a particular emphasis on head and neck
paragangliomas and phaeochromocytomas.