Internal Medicine
Online ISSN : 1349-7235
Print ISSN : 0918-2918
ISSN-L : 0918-2918
CASE REPORTS
Von Hippel Lindau Disease with Colon Adenocarcinoma, Renal Cell Carcinoma and Adrenal Pheochromocytoma
Laura ZinnamoscaAnastasia LaudisiLuigi PetramalaCristiano MarinelliMario RoselliDomenico VitoloChiara MontesaniClaudio Letizia
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JOURNAL OPEN ACCESS

2013 Volume 52 Issue 14 Pages 1599-1603

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Abstract

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 nervous system, eyes, inner ear, epididymis and pancreas. We herein describe the case of a 64-year-old man carrying the VHL gene mutation affected by simultaneous colon adenocarcinoma, renal clear cell carcinoma and adrenal pheochromocytoma.

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© 2013 by The Japanese Society of Internal Medicine
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