Richard S, Beroud C, Joly D, Chretien Y, Benoit G
Laboratoire de Neuro-Oncologie EPHE, Hôpital Necker, Paris, France.
Prog Urol. 1998 Jun;8(3):330-9.
Von Hippel-Lindau (VHL) disease is a genetic disease predisposing to the development of various tumours (haemangioblastomas of the neuraxis and retina, tumours of the membranous labyrinth, renal clear cell carcinomas or cysts, phaeochromocytomas, pancreatic cysts or tumours, epididymal cystadenomas), affecting one in 36,000 people. Renal cancer constitutes one of the main causes of death. The VHL gene, situated at 3p25-26, is a tumour suppressor gene which plays a major role in regulation of VEGF transcription and expression. The germ cell mutation can be identified in 70% of patients. Somatic mutations of the VHL gene are also responsible for sporadic clear cell carcinomas. In the urological setting, any patient presenting with "sporadic" bilateral clear cell renal cancer or detected at an early age, or bilateral epididymal cystadenomas, should be investigated for the presence of VHL disease.
冯·希佩尔-林道（VHL）病是一种遗传性疾病，易引发多种肿瘤（神经轴和视网膜的血管母细胞瘤、膜迷路肿瘤、肾透明细胞癌或囊肿、嗜铬细胞瘤、胰腺囊肿或肿瘤、附睾囊腺瘤），发病率约为36000分之一。肾癌是主要死因之一。位于3p25 - 26的VHL基因是一种肿瘤抑制基因，在VEGF转录和表达调控中起主要作用。70%的患者可检测到生殖细胞突变。VHL基因的体细胞突变也可导致散发性透明细胞癌。在泌尿外科领域，任何患有“散发性”双侧透明细胞肾癌、早年发病或双侧附睾囊腺瘤的患者，均应排查是否患有VHL病。
