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
Format:	Artikel
Sprache:	eng
Schlagworte:	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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Beschreibung
Zusammenfassung:	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.
ISSN:	1072-4109 1533-4031
DOI:	10.1097/PAP.0b013e31816f852e