Zinnamosca Laura, Laudisi Anastasia, Petramala Luigi, Marinelli Cristiano, Roselli Mario, Vitolo Domenico, Montesani Chiara, Letizia Claudio
Department Unit of Secondary Hypertension, Department of Internal Medicine and Medical Specialities, "Sapienza" University of Rome, Italy.
Intern Med. 2013;52(14):1599-603. doi: 10.2169/internalmedicine.52.8278. Epub 2013 Jul 15.
von Hippel-Lindau (VHL) disease is an autosomal dominant inherited tumor syndrome characterized by the presence of heterogeneous tumors derived from different organs. VHL is caused by germline mutations in the VHL tumor suppressor gene located on chromosome 3p25-26. The loss of functional VHL protein contributes to tumorigenesis. VHL tumors are most frequently derived from the kidneys, adrenal gland, central nervous system, eyes, inner ear, epididymis and pancreas. We herein describe the case of a 64-year-old man carrying the VHL gene mutation affected by simultaneous colon adenocarcinoma, renal clear cell carcinoma and adrenal pheochromocytoma.
冯·希佩尔-林道（VHL）病是一种常染色体显性遗传性肿瘤综合征，其特征是存在源自不同器官的异质性肿瘤。VHL由位于3号染色体p25 - 26区域的VHL肿瘤抑制基因的种系突变引起。功能性VHL蛋白的缺失促进肿瘤发生。VHL肿瘤最常源自肾脏、肾上腺、中枢神经系统、眼睛、内耳、附睾和胰腺。我们在此描述了一例携带VHL基因突变的64岁男性患者，其同时患有结肠腺癌、肾透明细胞癌和肾上腺嗜铬细胞瘤。
