{"title":"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","authors":"Qiang Tian, Wenwen Tang, Xiaoming Cao","doi":"10.1007/s12094-025-03954-6","DOIUrl":null,"url":null,"abstract":"<p><strong>Purpose: </strong>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.</p><p><strong>Objective: </strong>In this study, we aim to analyze different cBIOPortal datasets to explore VHL mutation frequencies in ccRCC.</p><p><strong>Methods: </strong>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.</p><p><strong>Results: </strong>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.</p><p><strong>Conclusion: </strong>This data confirms the mutational burden of VHL in ccRCC and suggests it is a potential therapeutic target for the management of ccRCC.</p>","PeriodicalId":50685,"journal":{"name":"Clinical & Translational Oncology","volume":" ","pages":""},"PeriodicalIF":2.8000,"publicationDate":"2025-05-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Mutational landscape and clinical implications of VHL in clear cell renal cell carcinoma: a multi-dataset analysis of 1377.\",\"authors\":\"Qiang Tian, Wenwen Tang, Xiaoming Cao\",\"doi\":\"10.1007/s12094-025-03954-6\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><strong>Purpose: </strong>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.</p><p><strong>Objective: </strong>In this study, we aim to analyze different cBIOPortal datasets to explore VHL mutation frequencies in ccRCC.</p><p><strong>Methods: </strong>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.</p><p><strong>Results: </strong>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.</p><p><strong>Conclusion: </strong>This data confirms the mutational burden of VHL in ccRCC and suggests it is a potential therapeutic target for the management of ccRCC.</p>\",\"PeriodicalId\":50685,\"journal\":{\"name\":\"Clinical & Translational Oncology\",\"volume\":\" \",\"pages\":\"\"},\"PeriodicalIF\":2.8000,\"publicationDate\":\"2025-05-27\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Clinical & Translational Oncology\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.1007/s12094-025-03954-6\",\"RegionNum\":3,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q2\",\"JCRName\":\"ONCOLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Clinical & Translational Oncology","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1007/s12094-025-03954-6","RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q2","JCRName":"ONCOLOGY","Score":null,"Total":0}
Mutational landscape and clinical implications of VHL in clear cell renal cell carcinoma: a multi-dataset analysis of 1377.
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.
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.
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