Mark Ingram MBBS, Presenter: Nothing to Disclose

Brendan Rory Barber MBChB, Abstract Co-Author: Nothing to Disclose

Gul Bano, Abstract Co-Author: Nothing to Disclose

Uday Patel MD, Abstract Co-Author: Nothing to Disclose

Ioannis Vlahos MBBS, Abstract Co-Author: Research grant, Bayer AG Consultant, Siemens AG Consultant, Bayer AG

To review: 1. The spectrum of established and emerging genetic mutations associated with pheochromocytoma 2. The different patterns of adrenal and extra-adrenal disease associated with specific genetic mutations 3. The familial implications of newly diagnosed pheochromocytoma and proposed screening pathways

1. Summary of recent genotype advances which suggest the majority of pheochromocytomas are genetically predisposed. Six gene mutations are well characterized: • VHL gene • RET gene leading to MEN type 2 • NF type 1 gene • Mitochondrial succinate dehydrogenase subunits B, C and D 2. Pictorial review of the clinicoradiological manifestations of these syndromes using CT, MR, US and nuclear medicine, and genetics data from our national referral centre 3. Proposed screening protocols

The major teaching points from this exhibit are: 1. The diagnosis of pheochromocytoma should alert the radiologist to the possibility of genetic syndromes and prompt screening of other family members 2. Specific features suggesting an inherited mutation include tumour multifocality, extra-adrenal pheochromocytomas, synchronous extra-abdominal paraganglionomas and malignant transformation 3. Recommendations for combined genetic-radiological protocols for screening relatives  

Ingram, M, Barber, B, Bano, G, Patel, U, Vlahos, I, Radiological Phenotypes of Adrenal and Extra-adrenal Pheochromocytoma: A Clinicoradiological Review of Inherited Disease Predisposition.  Radiological Society of North America 2010 Scientific Assembly and Annual Meeting, November 28 - December 3, 2010 ,Chicago IL. http://archive.rsna.org/2010/9012226.html