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Article

von Hippel Lindau disease with colon adenocarcinoma, renal cell carcinoma and adrenal pheochromocytoma.

Internal medicine (Tokyo, Japan) - 1 Jan 2013

Zinnamosca Laura, Laudisi Anastasia, Petramala Luigi, Marinelli Cristiano, Roselli Mario, Vitolo Domenico, Montesani Chiara, Letizia Claudio

Abstract excerpt

von Hippel-Lindau (VHL) disease is an autosomal dominant inherited tumor syndrome characterized by the presence of heterogeneous tumors derived from different organs. VHL is caused by germline mutations in the VHL tumor suppressor gene located on chromosome 3p25-26. The loss of functional VHL protein contributes to tumorigenesis. VHL tumors are most frequently derived from the kidneys, adrenal gland, central...

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Identifiers

PMID: 23857093
DOI: 10.2169/internalmedicine.52.8278

Genes

VHL

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