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von Hippel-Lindau Disease: Review of Genetics and Imaging.

von Hippel-Lindau (VHL) disease is an autosomal-dominant, hereditary, multisystem neoplasia syndrome with increased susceptibility to several benign and malignant tumors. VHL occurs in about 1 in 36,000 live births and is associated with germline mutation of the VHL tumor suppressor gene on the short arm of chromosome 3. VHL disease exhibits diverse genotype and phenotype correlations, exhibits variable intrafamilial and interfamilial expressivity, and can manifest with benign and malignant tumors of the central nervous system, kidneys, adrenals, pancreas, and reproductive organs. Imaging and management of this entity are therefore multidisciplinary. An overview of VHL disease is presented.

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