Von Hippel Lindau syndrome.
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 regardingvariegated molecular pathways and mechanisms ofVHLS are emerging with the subsequent advent of novel treatment protocols that are currently in clinical trials.
Kim
Jenny J
JJ
Cleveland Clinic, Taussig Cancer Institute, Celveland, Ohio 44195, USA.
Rini
Brian I
BI
Hansel
Donna E
DE
D000367:Age Factors; D018095:Germ-Line Mutation; D006801:Humans; D015994:Incidence; D009386:Neoplastic Syndromes, Hereditary / Q000453:epidemiology / Q000235:genetics* / Q000378:metabolism* / Q000473:pathology; D019683:Penetrance; D019043:Vascular Neoplasms / Q000453:epidemiology / Q000235:genetics* / Q000378:metabolism* / Q000473:pathology / Q000628:therapy; D051794:Von Hippel-Lindau Tumor Suppressor Protein / Q000235:genetics / Q000378:metabolism; D006623:von Hippel-Lindau Disease / Q000453:epidemiology / Q000235:genetics* / Q000378:metabolism* / Q000473:pathology / Q000628:therapy
D051794:Von Hippel-Lindau Tumor Suppressor Protein; C497446:VHL protein, human