Von Hippel-Lindau disease

M. Schwab (ed.), Encyclopedia of Cancer, Springer-Verlag Berlin Heidelberg, 2011


Definition

VHL; they are two major subgroups of the VHL disease: VHL type 1 mainly without and VHL type 2 mainly with pheochromocytoma presentation. The clinical features of the VHL syndrome include retinal (von Hippel) and cerebellar (Lindau) hemangioblastoma, as well as brain stem and spinal hemangioblastoma. They also include presence of renal cysts and renal cell carcinoma, pancreatic cysts and islet cell tumors, endolymphatic sac tumors, as well as cysts and cystadenomas of epididymis and broad ligament.

The Von HippelLindau tumor suppressor gene lies on the short arm of chromosome 3 (3p25), with three exons coding for two isoforms of the protein.

The mutations are spread in all three exons. Missense mutations usually confer better prognosis and are more frequently detected in patients presenting with (Pheochromocytoma|pheochromocytoma). About 20–30% of VHL type 2 patients develop a pheochromocytoma.

The age at diagnosis is younger than in sporadic cases. They are frequently multiple, bilateral adrenal and multifocal extra-adrenal. Rarely, they are malignant.

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