A Case of von Hippel-Lindau Disease with Colorectal Adenocarcinoma, Renal Cell Carcinoma and Hemangioblastomas.
A Case of von Hippel-Lindau Disease with Colorectal Adenocarcinoma, Renal Cell Carcinoma and Hemangioblastomas.
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DOI：
10.4143/crt.2014.299
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发表时间：
2016-01
影响因子：
4.6
通讯作者：
Jung M
中科院分区：
文献类型：
--
作者：
Heo SJ;Lee CK;Hahn KY;Kim G;Hur H;Choi SH;Han KS;Cho A;Jung M
von Hippel-Lindau （VHL）病是一种常染色体显性遗传性肿瘤综合征，与位于3p25染色体上的VHL肿瘤抑制基因突变相关。功能性VHL蛋白的缺失有助于肿瘤的发生。这种疾病的特点是中枢神经系统（CNS）和内脏器官（包括肾脏、肾上腺和胰腺）的良性和恶性肿瘤的发展。我们在此报告一例携带VHL基因突变的74岁男性患者，同时患有结肠腺癌、肾透明细胞癌和中枢神经系统血管母细胞瘤。
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.