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Published in: Virchows Archiv 2/2024

Open Access 24-11-2023 | Kidney Cancer | REVIEW AND PERSPECTIVES

Genomic alterations and diagnosis of renal cancer

Authors: Xingming Zhang, Hella A. Bolck, Niels J. Rupp, Holger Moch

Published in: Virchows Archiv | Issue 2/2024

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Abstract

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.
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Metadata
Title
Genomic alterations and diagnosis of renal cancer
Authors
Xingming Zhang
Hella A. Bolck
Niels J. Rupp
Holger Moch
Publication date
24-11-2023
Publisher
Springer Berlin Heidelberg
Published in
Virchows Archiv / Issue 2/2024
Print ISSN: 0945-6317
Electronic ISSN: 1432-2307
DOI
https://doi.org/10.1007/s00428-023-03700-9

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