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The genetics of paragangliomas: a review
Author(s) -
T.P.C. Martin,
R.M. Irving,
E.R. Maher
Publication year - 2007
Publication title -
clinical otolaryngology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.914
H-Index - 68
eISSN - 1749-4486
pISSN - 1749-4478
DOI - 10.1111/j.1365-2273.2007.01378.x
Subject(s) - sdhd , sdhb , paraganglioma , medicine , pheochromocytoma , head and neck , mutation , genetics , gene , germline mutation , pathology , biology , surgery
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.