Von Hippel-Lindau disease (VHL; OMIM#193300) is one of the endocrine neoplasia syndromes characterized by loss of function germline VHL mutations that predispose specific hormone-secreting cell types to become neoplastic. The live birth incidence of this disease is in the range of 1 in 36,000 to 1 in 39,000.[1] Individuals affected with VHL develop both benign and malignant tumors, as well as cysts, in many organ systems. Given the multisystem nature of this disorder, a multidisciplinary treatment approach is required.

VHL (chromosomal location 3p26-p25) was identified in 1993 using positional cloning strategies,1-2-1 and, subsequently, loss of the corresponding wild-type allele in affected tissue was reported, consistent with this gene having a tumor suppressor function.[3] Up to 50% of patients with germline VHL mutation develop only one feature of this disease; however, penetrance is believed to be approaching complete by 65 years of age (reviewed in Ref. [4]). Given its small size, consisting of only three exons encoding a 213-amino acid protein product, VHL is readily amenable for genetic scanning in at-risk or symptomatic individuals.

Was this article helpful?

0 0
Getting Started With Dumbbells

Getting Started With Dumbbells

The use of dumbbells gives you a much more comprehensive strengthening effect because the workout engages your stabilizer muscles, in addition to the muscle you may be pin-pointing. Without all of the belts and artificial stabilizers of a machine, you also engage your core muscles, which are your body's natural stabilizers.

Get My Free Ebook

Post a comment