Tian Qiang, Tang Wenwen, Cao Xiaoming
Department of Urology, First Hospital of Shanxi Medical University, No. 85, Jiefang South Road, Yingze District, Taiyuan, 030000, Shanxi, China.
Department of Plastic Surgery, Norman Bethune Hospital, No. 99, Longcheng Street, Taiyuan, 030000, Shanxi, China.
Clin Transl Oncol. 2025 May 27. doi: 10.1007/s12094-025-03954-6.
Kidney cancer stands as a threat worldwide, with clear cell renal cell carcinoma (ccRCC) emerging as its predominant subtype. Through the establishment of extensive databases, the somatic mutations associated with ccRCC are successfully pinpointed. The tumor suppressor gene Von Hippel-Lindau (VHL) is commonly mutated in ccRCC.
In this study, we aim to analyze different cBIOPortal datasets to explore VHL mutation frequencies in ccRCC.
The datasets explored were Kidney Renal Clear Cell Carcinoma (TCGA, Nature 2013), Kidney Renal Clear Cell Carcinoma (IRC, Nat Genet 2014), Kidney Renal Clear Cell Carcinoma (TCGA, Firehose Legacy), Kidney Renal Clear Cell Carcinoma (TCGA, PanCancer Atlas). Data mining from various datasets revealed that VHL is the most mutated gene, with mutation frequencies of 79.5%, 51.2%, 49.9%, and 41.3% across different datasets: Kidney Renal Clear Cell Carcinoma (IRC, Nat Genet 2014), Kidney Renal Clear Cell Carcinoma (TCGA, Nature 2013), Kidney Renal Clear Cell Carcinoma (TCGA, Firehose Legacy), and Kidney Renal Clear Cell Carcinoma (TCGA, PanCancer Atlas), respectively.
The mutated VHL gene is associated with significantly reduced overall survival (OS) rates based on the analyses of these datasets. VHL mutation becomes more advanced at a late age with many distant metastases.
This data confirms the mutational burden of VHL in ccRCC and suggests it is a potential therapeutic target for the management of ccRCC.
肾癌是全球范围内的一大威胁，其中透明细胞肾细胞癌（ccRCC）是其主要亚型。通过建立广泛的数据库，成功确定了与ccRCC相关的体细胞突变。肿瘤抑制基因冯·希佩尔-林道（VHL）在ccRCC中常见突变。
在本研究中，我们旨在分析不同的cBIOPortal数据集，以探索ccRCC中VHL的突变频率。
所探索的数据集包括肾透明细胞癌（TCGA，《自然》2013年）、肾透明细胞癌（IRC，《自然遗传学》2014年）、肾透明细胞癌（TCGA，Firehose Legacy）、肾透明细胞癌（TCGA，泛癌图谱）。对各种数据集的数据挖掘显示，VHL是突变最多的基因，在不同数据集（肾透明细胞癌（IRC，《自然遗传学》2014年）、肾透明细胞癌（TCGA，《自然》2013年）、肾透明细胞癌（TCGA，Firehose Legacy）、肾透明细胞癌（TCGA，泛癌图谱））中的突变频率分别为79.5%、51.2%、49.9%和41.3%。
基于这些数据集的分析，突变的VHL基因与总体生存率（OS）显著降低相关。VHL突变在老年时更为晚期，伴有许多远处转移。
该数据证实了VHL在ccRCC中的突变负担，并表明它是ccRCC治疗管理的一个潜在靶点。
