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3. [Genetics and angiogenesis: the example of von Hippel-Lindau disease].

Author

Richard S, Ladroue C, Gad S, Giraud S, and Gardie B

Subjects
Animals, Central Nervous System Neoplasms diagnosis, Central Nervous System Neoplasms genetics, Central Nervous System Neoplasms therapy, Genes, Tumor Suppressor physiology, Germ-Line Mutation genetics, Hemangioblastoma diagnosis, Hemangioblastoma genetics, Hemangioblastoma therapy, Humans, Kidney Neoplasms genetics, Kidney Neoplasms pathology, Kidney Neoplasms therapy, Mutation genetics, Pancreatic Neoplasms genetics, Pancreatic Neoplasms pathology, Pancreatic Neoplasms therapy, Pheochromocytoma genetics, Pheochromocytoma pathology, Pheochromocytoma therapy, Polycythemia genetics, Retinal Neoplasms genetics, Retinal Neoplasms pathology, Retinal Neoplasms therapy, von Hippel-Lindau Disease diagnosis, von Hippel-Lindau Disease therapy, Neovascularization, Pathologic genetics, Von Hippel-Lindau Tumor Suppressor Protein genetics, von Hippel-Lindau Disease genetics
Abstract

Von Hippel-Lindau (VHL) disease is the main cause of inherited kidney cancer and the model of tumoral angiogenesis. This rare syndrome is caused by germline mutations of the VHL tumor-suppressor gene that predispose to the development of a panel of highly vascularized tumors. Main manifestations include CNS and retinal haemangioblastomas, endolymphatic sac tumors, clear-cell renal cell carcinomas (RCC), phaeochromocytomas and pancreatic neuroendocrine tumors. The VHL gene plays a major role in regulation of the oxygen-sensing pathway by targeting the hypoxia-inducible factor HIF for degradation in proteasome. Somatic inactivation of the VHL gene occurs also in most sporadic RCC. Recent progress are pawing the way for the development of antiangiogenic targeted therapies that have already shown promising results in metastatic sporadic RCC.

Published
2007

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