Germline mutation of von Hippel-Lindau (VHL) gene 695 G>A (R161Q) in a patient with a peculiar phenotype with type 2C VHL syndrome.

Von Hippel-Lindau (VHL) disease is an autosomal dominant familial neoplastic disorder with an estimated birth incidence of approximately 1:36000 live. VHL has intrafamilial variability expression and it is characterized by the predisposition to develop hemangioblastomas of the central nervous system and retina, pheochromocytomas, clear-cell renal carcinoma, adenomas, and carcinomas of the pancreas, paragangliomas, renal and pancreatic cysts, papillary cystadenomas of the epididymis and, rarely, cystadenomas of the endolymphatic sac tumor and broad ligament. We describe a Sicilian girl with type 2C VHL who showed the apparently de novo mutation R161Q in association with an extra-axial supratentorial frontal meningioma, which can be included as a characteristic sign in VHL.