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HN04
GENETICS OF HEAD AND NECK PARAGANGLIOMA
Author(s) -
Hunt P. J.
Publication year - 2007
Publication title -
anz journal of surgery
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.426
H-Index - 70
eISSN - 1445-2197
pISSN - 1445-1433
DOI - 10.1111/j.1445-2197.2007.04121_4.x
Subject(s) - sdhd , sdhb , paraganglioma , medicine , head and neck , pheochromocytoma , mutation , succinate dehydrogenase , genetic heterogeneity , genetics , bioinformatics , pathology , cancer research , gene , germline mutation , phenotype , biology , mitochondrion , surgery
Paragangliomas (PGL) of the head and neck are rare tumours derived from neural crest origin that occur in both sporadic and hereditary forms. Genetic predisposition to paraganglioma affects up to 50% of all patients with head and neck paraganglioma. Patients with familial paraganglioma tend to present at a younger age and with multiple tumours. In the past, familial cases were attributed phenotypically to particular groupings, such as PGL type 1. Recent advances have identified mutations in genes encoding the three SDH subunits (SDHB, SDHC, SDHD) as responsible for the majority of familial head and neck paraganglioma. Succinate dehydrogenase is a mitochondrial enzyme complex with an important role in both the Kreb’s cycle and the mitochondrial electron transport chain. These mutations lead to the overexpression of several hypoxia‐inducible genes resulting in cellular proliferation and the development of paragangliomas. Understanding the relationship between mutations of SDHB, SHDC and SDHD and clinical manifestations of familial paraganglioma is important in the management, genetic testing and appropriate genetic counselling of individuals.