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

Author: Su Jin HEO ¹ ; Choong Kun LEE ; Kyu Yeon HAHN ; Gyuri KIM ; Hyuk HUR ; Sung Hoon CHOI ; Kyung Seok HAN ; Arthur CHO ; Minkyu JUNG
Author Information

1. Department of Internal Medicine, Yonsei University College of Medicine, Seoul, Korea. minkjung@yuhs.ac
Publication Type:Case Report
Keywords: von Hippel-Lindau disease; Colorectal neoplasm; Renal cell carcinoma; Hemangioblastoma
MeSH: Adenocarcinoma*; Adrenal Glands; Aged; Carcinogenesis; Carcinoma, Renal Cell*; Central Nervous System; Colorectal Neoplasms; Genes, Tumor Suppressor; Hemangioblastoma*; Humans; Kidney; Pancreas; von Hippel-Lindau Disease*
From:Cancer Research and Treatment 2016;48(1):409-414
CountryRepublic of Korea
Language:English
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.