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KMID : 0939920160480010409
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대한암학회지
2016 Volume.48 No. 1 p.409 ~ p.414
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A Case of von Hippel?Lindau Disease with Colorectal Adenocarcinoma, Renal Cell Carcinoma and Hemangioblastomas
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Heo Su-Jin
Lee Choong-Kun
Hahn Kyu-Yeon
Kim Gyu-Ri
Hur Hyuk
Choi Sung-Hoon
Han Kyung-Seok
Cho Arthur
Jung Min-Kyu
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Abstract
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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.
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KEYWORD
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von Hippel-Lindau disease, Colorectal neoplasm, Renal cell carcinoma, Hemangioblastoma
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