A Case of von Hippel-Lindau Disease with Colorectal Adenocarcinoma, Renal Cell Carcinoma and Hemangioblastomas

von Hippel-Lindau (VHL) disease is an autosomal dominant inherited tumor syndrome associated with mutations of the VHL tumor suppressor gene located on chromosome 3p25. The loss of functional VHL protein contributes to tumorigenesis. This condition is characterized by development of benign and malig...

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Published in:Cancer research and treatment 2016, 48(1), , pp.409-414
Main Authors: Heo, Su Jin, Lee, Choong-Kun, Hahn, Kyu Yeon, Kim, Gyuri, Hur, Hyuk, Choi, Sung Hoon, Han, Kyung Seok, Cho, Arthur, Jung, Minkyu
Format: Article
Language:English
Subjects:
Adenocarcinoma - complications
Aged
Carcinoma, Renal Cell - complications
Case Report
Cerebellar Neoplasms - complications
Colorectal Neoplasms - complications
Hemangioblastoma - complications
Humans
Kidney Neoplasms - complications
Male
Mutation
von Hippel-Lindau Disease - complications
von Hippel-Lindau Disease - genetics
Von Hippel-Lindau Tumor Suppressor Protein - genetics
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Summary:von Hippel-Lindau (VHL) disease is an autosomal dominant inherited tumor syndrome associated with mutations of the VHL tumor suppressor gene located on chromosome 3p25. The loss of functional VHL protein contributes to tumorigenesis. This condition is characterized by development of benign and malignant tumors in the central nervous system (CNS) and the internal organs, including kidney, adrenal gland, and pancreas. We herein describe the case of a 74-year-old man carrying the VHL gene mutation who was affected by simultaneous colorectal adenocarcinoma, renal clear cell carcinoma, and hemangioblastomas of CNS.
ISSN:1598-2998
2005-9256
DOI:10.4143/crt.2014.299