Central nervous system manifestations in VHL: genetics, pathology and clinical phenotypic features.

Abstract excerpt

This review focuses on CNS hemangioblastomas in von Hippel-Lindau (VHL) disease. The pathogenesis of these lesions remains unclear to date; however, biallelic inactivation of the VHL tumor suppressor gene is thought to be an important step. These benign tumors occur frequently in patients with VHL disease and produce symptoms by mass effect either by the tumor itself or an accompanying cyst or edema. Furthermore,...

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