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Genomic Profiling and Molecular Characterization of Clear Cell Renal Cell Carcinoma
Clear cell renal cell carcinoma (ccRCC) treatment has undergone three major paradigm shifts in recent years, first with the introduction of molecular targeted therapies, then with immune checkpoint inhibitors, and, more recently, with immune-based combinations. However, to date, molecular predictors...
Autores principales: | , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2023
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10605358/ https://www.ncbi.nlm.nih.gov/pubmed/37887570 http://dx.doi.org/10.3390/curroncol30100670 |
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author | Pezzicoli, Gaetano Ciciriello, Federica Musci, Vittoria Salonne, Francesco Ragno, Anna Rizzo, Mimma |
author_facet | Pezzicoli, Gaetano Ciciriello, Federica Musci, Vittoria Salonne, Francesco Ragno, Anna Rizzo, Mimma |
author_sort | Pezzicoli, Gaetano |
collection | PubMed |
description | Clear cell renal cell carcinoma (ccRCC) treatment has undergone three major paradigm shifts in recent years, first with the introduction of molecular targeted therapies, then with immune checkpoint inhibitors, and, more recently, with immune-based combinations. However, to date, molecular predictors of response to targeted agents have not been identified for ccRCC. The WHO 2022 classification of renal neoplasms introduced the molecularly defined RCC class, which is a first step in the direction of a better molecular profiling of RCC. We reviewed the literature data on known genomic alterations of clinical interest in ccRCC, discussing their prognostic and predictive role. In particular, we explored the role of VHL, mTOR, chromatin modulators, DNA repair genes, cyclin-dependent kinases, and tumor mutation burden. RCC is a tumor whose pivotal genomic alterations have pleiotropic effects, and the interplay of these effects determines the tumor phenotype and its clinical behavior. Therefore, it is difficult to find a single genomic predictive factor, but it is more likely to identify a signature of gene alterations that could impact prognosis and response to specific treatment. To accomplish this task, the interpolation of large amounts of clinical and genomic data is needed. Nevertheless, genomic profiling has the potential to change real-world clinical practice settings. |
format | Online Article Text |
id | pubmed-10605358 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2023 |
publisher | MDPI |
record_format | MEDLINE/PubMed |
spelling | pubmed-106053582023-10-28 Genomic Profiling and Molecular Characterization of Clear Cell Renal Cell Carcinoma Pezzicoli, Gaetano Ciciriello, Federica Musci, Vittoria Salonne, Francesco Ragno, Anna Rizzo, Mimma Curr Oncol Review Clear cell renal cell carcinoma (ccRCC) treatment has undergone three major paradigm shifts in recent years, first with the introduction of molecular targeted therapies, then with immune checkpoint inhibitors, and, more recently, with immune-based combinations. However, to date, molecular predictors of response to targeted agents have not been identified for ccRCC. The WHO 2022 classification of renal neoplasms introduced the molecularly defined RCC class, which is a first step in the direction of a better molecular profiling of RCC. We reviewed the literature data on known genomic alterations of clinical interest in ccRCC, discussing their prognostic and predictive role. In particular, we explored the role of VHL, mTOR, chromatin modulators, DNA repair genes, cyclin-dependent kinases, and tumor mutation burden. RCC is a tumor whose pivotal genomic alterations have pleiotropic effects, and the interplay of these effects determines the tumor phenotype and its clinical behavior. Therefore, it is difficult to find a single genomic predictive factor, but it is more likely to identify a signature of gene alterations that could impact prognosis and response to specific treatment. To accomplish this task, the interpolation of large amounts of clinical and genomic data is needed. Nevertheless, genomic profiling has the potential to change real-world clinical practice settings. MDPI 2023-10-20 /pmc/articles/PMC10605358/ /pubmed/37887570 http://dx.doi.org/10.3390/curroncol30100670 Text en © 2023 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/). |
spellingShingle | Review Pezzicoli, Gaetano Ciciriello, Federica Musci, Vittoria Salonne, Francesco Ragno, Anna Rizzo, Mimma Genomic Profiling and Molecular Characterization of Clear Cell Renal Cell Carcinoma |
title | Genomic Profiling and Molecular Characterization of Clear Cell Renal Cell Carcinoma |
title_full | Genomic Profiling and Molecular Characterization of Clear Cell Renal Cell Carcinoma |
title_fullStr | Genomic Profiling and Molecular Characterization of Clear Cell Renal Cell Carcinoma |
title_full_unstemmed | Genomic Profiling and Molecular Characterization of Clear Cell Renal Cell Carcinoma |
title_short | Genomic Profiling and Molecular Characterization of Clear Cell Renal Cell Carcinoma |
title_sort | genomic profiling and molecular characterization of clear cell renal cell carcinoma |
topic | Review |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10605358/ https://www.ncbi.nlm.nih.gov/pubmed/37887570 http://dx.doi.org/10.3390/curroncol30100670 |
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