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Genomic alterations and diagnosis of renal cancer

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机构： [1]Department of Pathology and Molecular Pathology, University Hospital Zurich, Schmelzbergstr. 12, 8091, Zurich, Switzerland. [2]Department of Urology, Institute of Urology, West China Hospital, Sichuan University, Chengdu, China. [3]Faculty of Medicine, University of Zurich, Zurich, Switzerland.

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关键词： Genomic alterations Diagnostic value Kidney cancer Renal cell carcinoma Molecular defined entities

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The application of molecular profiling has made substantial impact on the classification of urogenital tumors. Therefore, the 2022 World Health Organization incorporated the concept of molecularly defined renal tumor entities into its classification, including succinate dehydrogenase-deficient renal cell carcinoma (RCC), FH-deficient RCC, TFE3-rearranged RCC, TFEB-altered RCC, ALK-rearranged RCC, ELOC-mutated RCC, and renal medullary RCC, which are characterized by SMARCB1-deficiency. This review aims to provide an overview of the most important molecular alterations in renal cancer, with a specific focus on the diagnostic value of characteristic genomic aberrations, their chromosomal localization, and associations with renal tumor subtypes. It may not yet be the time to completely shift to a molecular RCC classification, but undoubtedly, the application of molecular profiling will enhance the accuracy of renal cancer diagnosis, and ultimately guide personalized treatment strategies for patients.© 2023. The Author(s).

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出版当年[2023]版：

大类 | 3 区医学

小类 | 2 区病理学

最新[2025]版：

大类 | 2 区医学

小类 | 2 区病理学

第一作者：

第一作者机构： [1]Department of Pathology and Molecular Pathology, University Hospital Zurich, Schmelzbergstr. 12, 8091, Zurich, Switzerland. [2]Department of Urology, Institute of Urology, West China Hospital, Sichuan University, Chengdu, China.

通讯作者：

通讯机构： [1]Department of Pathology and Molecular Pathology, University Hospital Zurich, Schmelzbergstr. 12, 8091, Zurich, Switzerland. [3]Faculty of Medicine, University of Zurich, Zurich, Switzerland.

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