Gnarra J R, Tory K, Weng Y, Schmidt L, Wei M H, Li H, Latif F, Liu S, Chen F, Duh F M
Urologic Oncology Section, National Cancer Institute, Bethesda, Maryland 20892.
Nat Genet. 1994 May;7(1):85-90. doi: 10.1038/ng0594-85.
Multiple, bilateral renal carcinomas are a frequent occurrence in von Hippel-Lindau (VHL) disease. To elucidate the aetiological role of the VHL gene in human kidney tumorigenesis, localized and advanced tumours from 110 patients with sporadic renal carcinoma were analysed for VHL mutations and loss of heterozygosity (LOH). VHL mutations were identified in 57% of clear cell renal carcinomas analysed and LOH was observed in 98% of those samples. Moreover, VHL was mutated and lost in a renal tumour from a patient with familial renal carcinoma carrying the constitutional translocation, t(3;8)(p14;q24). The identification of VHL mutations in a majority of localized and advanced sporadic renal carcinomas and in a second form of hereditary renal carcinoma indicates that the VHL gene plays a critical part in the origin of this malignancy.
多发性双侧肾癌在冯·希佩尔-林道（VHL）病中很常见。为了阐明VHL基因在人类肾脏肿瘤发生中的病因学作用，对110例散发性肾癌患者的局限性和晚期肿瘤进行了VHL突变和杂合性缺失（LOH）分析。在分析的57%的透明细胞肾癌中发现了VHL突变，在这些样本的98%中观察到了LOH。此外，在一名患有携带体质性易位t(3;8)(p14;q24)的家族性肾癌患者的肾肿瘤中，VHL发生了突变并缺失。在大多数局限性和晚期散发性肾癌以及第二种遗传性肾癌中发现VHL突变，这表明VHL基因在这种恶性肿瘤的起源中起关键作用。
