The genetics of paragangliomas: a review

Keypoints • Familial head and neck paragangliomas account for ≈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.