Mutational landscape and clinical implications of VHL in clear cell renal cell carcinoma: a multi-dataset analysis of 1377.

IF 2.8 3区医学 Q2 ONCOLOGY

Clinical & Translational Oncology Pub Date : 2025-05-27 DOI:10.1007/s12094-025-03954-6

Qiang Tian, Wenwen Tang, Xiaoming Cao

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引用次数: 0

Abstract

Purpose: 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.

Objective: In this study, we aim to analyze different cBIOPortal datasets to explore VHL mutation frequencies in ccRCC.

Methods: 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.

Results: 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.

Conclusion: This data confirms the mutational burden of VHL in ccRCC and suggests it is a potential therapeutic target for the management of ccRCC.

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透明细胞肾细胞癌中VHL的突变景观和临床意义：1377个多数据集分析

目的：肾癌是世界范围内的一大威胁，透明细胞肾细胞癌（ccRCC）是肾癌的主要亚型。通过建立广泛的数据库，成功地确定了与ccRCC相关的体细胞突变。肿瘤抑制基因Von Hippel-Lindau （VHL）在ccRCC中通常发生突变。目的：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。方法：研究的数据集为肾肾透明细胞癌（TCGA, Nature 2013）、肾肾透明细胞癌（IRC, Nat Genet 2014）、肾肾透明细胞癌（TCGA, Firehose Legacy）、肾肾透明细胞癌（TCGA, PanCancer Atlas）。来自不同数据集的数据挖掘显示，VHL是最多突变的基因，在不同的数据集中突变频率分别为79.5%,51.2%，49.9%和41.3%：肾肾透明细胞癌（IRC, Nat Genet 2014），肾肾透明细胞癌（TCGA, Nature 2013），肾肾透明细胞癌（TCGA, Firehose Legacy）和肾肾透明细胞癌（TCGA, PanCancer Atlas）。结果：基于这些数据集的分析，突变的VHL基因与显著降低的总生存率（OS）相关。VHL突变在晚期变得更加严重，并伴有许多远处转移。结论：该数据证实了VHL在ccRCC中的突变负担，提示VHL是ccRCC治疗的潜在治疗靶点。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Clinical & Translational Oncology 医学-肿瘤学

CiteScore

6.20

自引率

2.90%

发文量

240

审稿时长

1 months

期刊介绍： Clinical and Translational Oncology is an international journal devoted to fostering interaction between experimental and clinical oncology. It covers all aspects of research on cancer, from the more basic discoveries dealing with both cell and molecular biology of tumour cells, to the most advanced clinical assays of conventional and new drugs. In addition, the journal has a strong commitment to facilitating the transfer of knowledge from the basic laboratory to the clinical practice, with the publication of educational series devoted to closing the gap between molecular and clinical oncologists. Molecular biology of tumours, identification of new targets for cancer therapy, and new technologies for research and treatment of cancer are the major themes covered by the educational series. Full research articles on a broad spectrum of subjects, including the molecular and cellular bases of disease, aetiology, pathophysiology, pathology, epidemiology, clinical features, and the diagnosis, prognosis and treatment of cancer, will be considered for publication.