An elusive phaeochromocytoma.

The Medical Journal of Australia ISSN: 0025729X 3 January 2011 194 1 44-45 ©The Medical Journal of Australia 2011 www.mja.com.au Lessons from Practice one in 36 000 live births. The VHL gene is involved the transcription of vascular endothelial growth fa platelet-derived growth factor (PDGF) and other h cible proteins. Inactivation promotes tumour ang growth through overexpression of VEGF and PD agonists, resulting in ha mangioblastomas of the ce system or retina, pancreatic neuroendocrine tumou ur patient’s history shows the need for long-term periodic follow-up of people treated for phaeochromocytomas. It also illustrates the association between von Hippel–Lindau (VHL) disease and phaeochromocytoma. VHL disease, an autosomal dominant condition, is caused by a mutation of the VHL tumour suppressor gene on chromosome 3p; the mutation rate is 2 in regulating ctor (VEGF), ypoxia-induiogenesis and GF receptor ntral nervous rs and cysts, renal clear cell carcinomas, phaeochromocytoma, endolymphatic sac tumours, and papillary cystadenomas of the epididymis (men) or broad ligament (women). In a series report of 246 patients with VHL disease, 26% of patients developed phaeochromocytomas at a mean age of 29 years, 39% had bilateral adrenal phaeochromocytomas, and extraadrenal disease occurred in up to 30%. The adrenal medulla is the main site in the body where the enzyme that converts noradrenaline to adrenaline, phenylethanolamine N-methyltransferase, is localised, and, consequently, adrenal phaeochromocytomas typically have raised levels of both noradrenaline and adrenaline. By contrast, extra-adrenal phaeochromocytomas and phaeochromocytomas in patients with VHL disease do not usually express Clinical record