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.
Martin
T P C
TP
Specialist Registrar, ENT West Midlands Deanery, Birmingham, West Midlands, UK. tpcmartin@blueyonder.co.uk
Irving
R M
RM
Maher
E R
ER
D004273:DNA, Neoplasm / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease; D006258:Head and Neck Neoplasms / Q000235:genetics*; D006801:Humans; D007506:Iron-Sulfur Proteins / Q000235:genetics*; D008297:Male; D009154:Mutation; D010235:Paraganglioma / Q000235:genetics*; D010375:Pedigree; D013385:Succinate Dehydrogenase / Q000235:genetics*
D004273:DNA, Neoplasm; D007506:Iron-Sulfur Proteins; C491545:SDHD protein, human; C108095:SDHB protein, human; D013385:Succinate Dehydrogenase