Von Hippel-Lindau Disease

Abstract

Von Hippel-Lindau disease is a dominantly inherited familiar cancer disease characterized by the development of a variety of neoplasms, either benign or malignant, as well as cysts in different organs of the body. The disease depends on the inactivation of the VHL gene in the short arm of chromosome 3 (3p25–26.6) with high penetrance and variable expression (Maddock et al. 1996; Neumann et al. 1992; Seizinger et al. 1991). The protein encoded by this gene is unique and inhibits transcription elongation resulting in unregulated growth of vascular tumors in multiple tissues. The cardinal tumors of the disease for the neurosurgeon – hemangioblastomas (HBs) and retinoblastomas – are due to the abnormal focal proliferation of newly formed vessels which may cause life-threatening complications in spite of their benign nature because of their common location in the brain and spinal cord. When involving the retina, these tumors may impair the visual function leading to visual loss when poorly managed. The cysts, typical of the disease, commonly involve the kidneys, pancreas, and genital tracts. Often these lesions are detected in asymptomatic subjects and require the differential diagnosis with other benign lesions that do not bear a similar increased risk to develop clear cell renal carcinomas or pancreatic neuroendocrine tumors.