Von Hippel-Lindau Disease
There 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 the presence of renal cysts and renal cell carcinoma, pancreatic cysts and islet cell tumors, endolymphatic sac tumors, and cysts and cystadenomas of the epididymis and broad ligament. The Von Hippel-Lindau tumor suppressor genelies 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. 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,...
KeywordsRenal Cell Carcinoma Renal Cyst Pancreatic Cyst Islet Cell Tumor Broad Ligament
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