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

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

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...

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Veröffentlicht in:Advances in anatomic pathology 2008-05, Vol.15 (3), p.165-171
Hauptverfasser: Shehata, Bahig M, Stockwell, Christina A, Castellano-Sanchez, Amilcar A, Setzer, Shannon, Schmotzer, Christine L, Robinson, Haynes
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Sprache:eng
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Genetic Predisposition to Disease
Germ-Line Mutation
Humans
von Hippel-Lindau Disease - genetics
von Hippel-Lindau Disease - pathology
Von Hippel-Lindau Tumor Suppressor Protein - genetics
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container_issue 3
container_start_page 165
container_title Advances in anatomic pathology
container_volume 15
creator Shehata, Bahig M
Stockwell, Christina A
Castellano-Sanchez, Amilcar A
Setzer, Shannon
Schmotzer, Christine L
Robinson, Haynes
description 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.
doi_str_mv 10.1097/PAP.0b013e31816f852e
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subjects Genetic Predisposition to Disease
Germ-Line Mutation
Humans
von Hippel-Lindau Disease - genetics
von Hippel-Lindau Disease - pathology
Von Hippel-Lindau Tumor Suppressor Protein - genetics
title Von Hippel-Lindau (VHL) disease: an update on the clinico-pathologic and genetic aspects
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