Department and Chair of Pathomorphology, Faculty of Medical Sciences in Zabrze, Medical University of Silesia, Katowice, Poland.
Department and Clinic of Internal Medicine, Diabetology and Nephrology, Medical University of Silesia, Zabrze, Poland.
Medicine (Baltimore). 2023 Dec 15;102(50):e36540. doi: 10.1097/MD.0000000000036540.
Renal cell carcinoma (RCC) is a common malignant tumor of the urinary system. The von Hippel-Lindau (VHL) tumor suppressor gene play an essential role in the tumorigenic pathway of clear cell RCC (ccRCC). This study was aimed to clarify the influence of VHL polymorphisms on ccRCC susceptibility and survival in Central European population. We genotyped 2 single-nucleotide polymorphisms (SNPs) rs779805 and rs1642742 in VHL gene and assessed their associations with ccRCC risk, clinicopathologic parameters, and prognosis in 171 cases. The selected SNPs were genotyped by ROCHE LifeCycler 96 using tumor tissue-derived DNA. Both SNPs do not directly influence ccRCC susceptibility and overall survival. A significant associations were found between allele G and genotypes AG and GG of rs779805 in the VHL tumor suppressor gene and increased tumor size, as well as high nuclear grade. Furthermore, a statistically significant association was observed between rs1642742 of VHL gene and low pathological tumor stage and between rs779805 of VHL gene and high pathological tumor stage. Both investigated SNPs can be important prognostic indicators of RCC in the Central European population, because statistically significant associations were observed between evaluated VHL polymorphisms and the best known factors with proven prognostic significance in kidney cancer.
肾细胞癌（RCC）是一种常见的泌尿系统恶性肿瘤。von Hippel-Lindau（VHL）肿瘤抑制基因在透明细胞肾细胞癌（ccRCC）的肿瘤发生途径中起着至关重要的作用。本研究旨在阐明 VHL 基因多态性对中欧人群 ccRCC 易感性和生存的影响。我们对 VHL 基因中的 2 个单核苷酸多态性（SNP）rs779805 和 rs1642742 进行了基因分型，并评估了它们与 171 例 ccRCC 风险、临床病理参数和预后的关系。使用肿瘤组织来源的 DNA 通过 ROCHE LifeCycler 96 对选定的 SNP 进行了基因分型。这两个 SNP 都不会直接影响 ccRCC 的易感性和总体生存率。在 VHL 肿瘤抑制基因中，rs779805 的等位基因 G 以及 AG 和 GG 基因型与肿瘤大小增加和核分级较高显著相关。此外，VHL 基因中的 rs1642742 与低病理肿瘤分期之间以及 VHL 基因中的 rs779805 与高病理肿瘤分期之间存在统计学显著相关性。在中欧人群中，这两个研究的 SNP 都可以是 RCC 的重要预后指标，因为在评估的 VHL 多态性与在肾癌中具有已证实的预后意义的最佳已知因素之间观察到了统计学显著的相关性。
