Diseases of DNA Repair

Volume 685 of the series Advances in Experimental Medicine and Biology pp 228-249

Von Hippel Lindau Syndrome

  • Jenny J. KimAffiliated withCleveland Clinic, Taussig Cancer Institute
  • , Brian I. RiniAffiliated withCleveland Clinic Department of Solid Tumor Oncology Taussig Cancer Institute, Glickman Urological and Kidney Institute
  • , Donna E. HanselAffiliated withCleveland Clinic Department of Anatomic Pathology Taussig Cancer Institute and Genomic Medicine Institute, Glickman Urological and Kidney Institute Email author 

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Von Hippel-Lindau syndrome (VHLS) is an autosomal dominant familial cancer syndrome arising from germ-line inactivation of the VHL gene on the short arm of chromosome 3. VHLS manifests in a myriad of hyper-vascular tumors of both benign and malignant nature. Incidence of VHLS is roughly 1 in 36,000 live births and has over 90% penetrance by the age of 65. Improved understanding of the natural history and biology of VHLS has led to the introduction of screening protocols, early interventions and improved treatments, all of which resulted in a substantially improved prognosis for this disease. Further details regarding variegated molecular pathways and mechanisms of VHLS are emerging with the subsequent advent of novel treatment protocols that are currently in clinical