Von Hippel-Lindau disease (VHL): organ involvement. VHL is an autosomal-dominant multisystem disorder with a prevalence rate of roughly 1 in 40,000 [32, 35]. It is characterized by the development of tumors, benign and malignant, in various organs. VHL-associated tumors tend to arise at an earlier age and more often are multicentric than the sporadic varieties. Morbidity and mortality are mostly related to central nervous system hemangioblastoma and renal cell carcinoma. Involvement of cerebellum, retinas, kidneys, adrenal glands, and pancreas is illustrated (see Figures 9-37 to 9-41).
The VHL gene is located on the short arm of chromosome 3 and exhibits characteristics of a tumor suppressor gene. Mutations are now identified in 70% of VHL families .
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