Von Hippel-Lindau disease

Russell R. Lonser, Gladys M. Glenn, McClellan Walther, Emily Y. Chew, Steven K. Libutti, W. Marston Linehan, Edward H. Oldfield

Research output: Contribution to journalArticle

930 Scopus citations

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 36 000 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.

Original languageEnglish (US)
Pages (from-to)2059-2067
Number of pages9
JournalLancet
Volume361
Issue number9374
DOIs
StatePublished - Jun 14 2003

ASJC Scopus subject areas

  • Medicine(all)

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    Lonser, R. R., Glenn, G. M., Walther, M., Chew, E. Y., Libutti, S. K., Linehan, W. M., & Oldfield, E. H. (2003). Von Hippel-Lindau disease. Lancet, 361(9374), 2059-2067. https://doi.org/10.1016/S0140-6736(03)13643-4