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Adv Anat Pathol. 2008 May;15(3):165-71. doi: 10.1097/PAP.0b013e31816f852e.

Von Hippel-Lindau (VHL) disease: an update on the clinico-pathologic and genetic aspects.

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  • 1Department of Pathology, Children's Healthcare of Atlanta, Egleston, Atlanta, GA 30322, USA.


von Hippel-Lindau (VHL) disease is an inherited multisystem familial cancer syndrome caused by mutations of the VHL gene on chromosome 3p25. A wide variety of neoplastic processes are known to be associated with VHL disease. The consequences of the VHL mutations and the pathway for tumor development continue to be elucidated. This paper will detail the variety of tumors associated with VHL disease and discuss the genetic mechanisms that lead to the predisposition for neoplasia.

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