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1: Expert Rev Anticancer Ther. 2003 Apr;3(2):215-33.Click here to read Links

von Hippel-Lindau disease: recent advances and therapeutic perspectives.

Richard S; French VHL Study Group.

Génétique Oncologique EPHE, Faculté de Médecine Paris-Sud, Le Kremlin-Bicêtre, France. stephane.richard@kb.u-psud.fr

von Hippel-Lindau disease is a hereditary cancer syndrome predisposing carriers to the development of a panel of highly vascularized tumors such as central nervous system and retinal hemangioblastomas, endolymphatic sac tumors, clear-cell renal cell carcinomas, pheochromocytomas and pancreatic neuroendocrine tumors. The disease is the foremost cause of inherited renal cell carcinomas, which is induced by germline mutations of the VHL tumor-suppressor gene also inactivated in most sporadic renal cell carcinomas. VHL appears to be a pivotal gene in the oxygen-sensing pathway, mainly involved in targeting the hypoxia-inducible factors for ubiquitination. This discovery is opening the way for the development of new specific drugs inhibiting hypoxia-inducible factors and/or their downstream targets, possibly representing an attractive treatment not only for von Hippel-Lindau disease but also for sporadic renal cell carcinomas and others cancers.

PMID: 12722881 [PubMed - indexed for MEDLINE]