The genetics of paragangliomas: a review

Familial head and neck paragangliomas account for approximately 10% of all head and neck paragangliomas. There are three known genes associated with genetic susceptibility to head and neck paragangliomas: succinate dehydrogenase complex subunit 'D', 'B' and 'C' (SDHD, SDHB and SDHC). The genes most frequently implicated: SDHD and SDHB, also predispose to phaeochromocytoma. SDHD shows a complex inheritance pattern - tumours do not develop if the mutation is inherited from the mother. SDHB mutations are associated with malignant phaeochromocytoma. Patients who present with a family history of paraganglioma or phaeochromocytoma, with multiple tumours, or early onset tumours (<50 years), should be referred for genetic investigation.