Genetic basis of phaeochromocytoma and paraganglioma.
Advances in the knowledge of the genetics of phaeochromocytoma have broadened our understanding about the mechanisms of tumorigenesis. Formerly it was believed that 10% of phaeochromocytomas were associated with familial cancer syndromes, but it is now recognised that up to 30% of these tumours may be familial. In particular, attention has been focused on those patients with apparently sporadic presentations where 12-24% of patients have been shown to carry germline mutations indicating hereditary disease. Consideration of genetic testing is now recommended for all apparently sporadic cases and, following the identification of a mutation-positive carrier, the offering of genetic testing to first degree relatives. There is a need for lifelong follow up of affected individuals and asymptomatic mutation-positive carriers, but validation of screening protocols has yet to be determined.
Benn
Diana E
DE
Cancer Genetics Group, Kolling Institute of Medical Research, Royal North Shore Hospital, St Leonards NSW 2065, Australia. dbenn@med.usyd.edu.au
Robinson
Bruce G
BG
D000310:Adrenal Gland Neoplasms / Q000209:etiology / Q000235:genetics*; D000465:Algorithms; D006580:Genetic Carrier Screening; D005820:Genetic Testing; D018095:Germ-Line Mutation; D006801:Humans; D018813:Multiple Endocrine Neoplasia Type 2a / Q000235:genetics; D009456:Neurofibromatosis 1 / Q000235:genetics; D010235:Paraganglioma / Q000209:etiology / Q000235:genetics*; D010673:Pheochromocytoma / Q000209:etiology / Q000235:genetics*; D013577:Syndrome; D006623:von Hippel-Lindau Disease / Q000235:genetics