title: von Hippel-Lindau disease.
abstract: von Hippel-Lindau disease is a heritable multisystem cancer syndrome that is associated with a germline mutation of the VHL tumour suppressor gene on the short arm of chromosome 3. This disorder is not rare (about one in 36000 livebirths) and is inherited as a highly penetrant autosomal dominant trait (ie, with a high individual risk of disease). Affected individuals are at risk of developing various benign and malignant tumours of the central nervous system, kidneys, adrenal glands, pancreas, and reproductive adnexal organs. Because of the complexities associated with management of the various types of tumours in this disease, treatment is multidisciplinary. We present an overview of the clinical aspects, management, and treatment options for von Hippel-Lindau disease.
authors.affiliation: Surgical Neurology Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892-1414, USA. lonserr@ninds.nih.gov
authors.forename: Russell R
authors.initials: RR
authors.lastname: Lonser
authors.forename: Gladys M
authors.initials: GM
authors.lastname: Glenn
authors.forename: McClellan
authors.initials: M
authors.lastname: Walther
authors.forename: Emily Y
authors.initials: EY
authors.lastname: Chew
authors.forename: Steven K
authors.initials: SK
authors.lastname: Libutti
authors.forename: W Marston
authors.initials: WM
authors.lastname: Linehan
authors.forename: Edward H
authors.initials: EH
authors.lastname: Oldfield
mesh_terms: D006623:von Hippel-Lindau Disease / Q000175:diagnosis / Q000235:genetics / Q000628:therapy