Phaeochromocytoma: current concepts.
The discovery of novel mutations in genes encoding succinate dehydrogenase subunits has revealed that familial phaeochromocytomas are much more common than previously thought. Genetic screening should be offered to patients with apparently sporadic phaeochromocytomas and their first-degree relatives. An increasing proportion of phaeochromocytomas present preclinically on genetic testing or as "incidentalomas" on abdominal imaging, rather than with classic symptoms and signs. Clinical suspicion should prompt measurement of plasma levels of free metanephrine or 24-hour urinary catecholamine and metanephrine levels, followed, if positive, by tumour localisation studies. With appropriate perioperative care, surgical management of phaeochromocytomas is safe and effective. Most tumours can be removed laparoscopically.
Alderazi
Yaser
Y
Royal North Shore Hospital and University of Sydney, Sydney, NSW, Australia.
Yeh
Michael W
MW
Robinson
Bruce G
BG
Benn
Diana E
DE
Sywak
Mark S
MS
Learoyd
Diana L
DL
Delbridge
Leigh W
LW
Sidhu
Stan B
SB
D000310:Adrenal Gland Neoplasms / Q000175:diagnosis* / Q000235:genetics / Q000378:metabolism / Q000628:therapy*; D002395:Catecholamines / Q000652:urine; D020022:Genetic Predisposition to Disease; D006801:Humans; D008495:Medical Oncology / Q000639:trends; D008676:Metanephrine / Q000097:blood / Q000652:urine; D009154:Mutation / Q000235:genetics; D010673:Pheochromocytoma / Q000175:diagnosis* / Q000235:genetics / Q000378:metabolism / Q000628:therapy*; D012680:Sensitivity and Specificity; D016896:Treatment Outcome
D002395:Catecholamines; D008676:Metanephrine