title: A Case of von Hippel-Lindau Disease with Colorectal Adenocarcinoma, Renal Cell Carcinoma and Hemangioblastomas.
abstract: 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.
authors.affiliation: Department of Internal Medicine, Yonsei University College of Medicine, Seoul, Korea.
authors.forename: Su Jin
authors.initials: SJ
authors.lastname: Heo
authors.affiliation: Department of Internal Medicine, Yonsei University College of Medicine, Seoul, Korea.
authors.forename: Choong-Kun
authors.initials: CK
authors.lastname: Lee
authors.affiliation: Department of Internal Medicine, Yonsei University College of Medicine, Seoul, Korea.
authors.forename: Kyu Yeon
authors.initials: KY
authors.lastname: Hahn
authors.affiliation: Department of Internal Medicine, Yonsei University College of Medicine, Seoul, Korea.
authors.forename: Gyuri
authors.initials: G
authors.lastname: Kim
authors.affiliation: Department of Surgery, Yonsei University College of Medicine, Seoul, Korea.
authors.forename: Hyuk
authors.initials: H
authors.lastname: Hur
authors.affiliation: Department of Surgery, Yonsei University College of Medicine, Seoul, Korea.
authors.forename: Sung Hoon
authors.initials: SH
authors.lastname: Choi
authors.affiliation: Department of Urology, Yonsei University College of Medicine, Seoul, Korea.
authors.forename: Kyung Seok
authors.initials: KS
authors.lastname: Han
authors.affiliation: Department of Nuclear Medicine, Yonsei University College of Medicine, Seoul, Korea.
authors.forename: Arthur
authors.initials: A
authors.lastname: Cho
authors.affiliation: Department of Internal Medicine, Yonsei University College of Medicine, Seoul, Korea.
authors.forename: Minkyu
authors.initials: M
authors.lastname: Jung
mesh_terms: D000230:Adenocarcinoma / Q000150:complications*; D000368:Aged; D002292:Carcinoma, Renal Cell / Q000150:complications*; D002528:Cerebellar Neoplasms / Q000150:complications*; D015179:Colorectal Neoplasms / Q000150:complications*; D018325:Hemangioblastoma / Q000150:complications*; D006801:Humans; D007680:Kidney Neoplasms / Q000150:complications*; D008297:Male; D009154:Mutation; D051794:Von Hippel-Lindau Tumor Suppressor Protein / Q000235:genetics; D006623:von Hippel-Lindau Disease / Q000150:complications* / Q000235:genetics
chemical_list: D051794:Von Hippel-Lindau Tumor Suppressor Protein; C497446:VHL protein, human
keywords: Colorectal neoplasm; Hemangioblastoma; Renal cell carcinoma; von Hippel-Lindau disease