von Hippel-Lindau disease

An autosomal dominant tumor predisposition syndrome, von Hippel-Lindau dise ase (VHL) is characterized by the presence of benign and malignant tumors. Hallmark lesions include retinal angiomas, hemangioblastomas of the cerebel lum and spinal cord, and renal cell carcinomas. Affected persons may also h ave angiomatous or cystic lesions of the kidneys, pancreas, and epididymis, as well as adrenal pheochromocytomas. In this article, we discuss the clin ical features and diagnostic criteria for this clinically underdiagnosed co ndition. An update on recent findings regarding the molecular genetics of V HL is provided, including a discussion of the evolving understanding of gen otype-phenotype correlations. Understanding. the molecular and functional a spects of this condition will lead to the development of strategies for the management and treatment of inherited and sporadic VHL-associated tumors.