Genomic Profiling and Molecular Characterization of Clear Cell Renal Cell Carcinoma

Author:

Pezzicoli Gaetano1ORCID,Ciciriello Federica1,Musci Vittoria1,Salonne Francesco1,Ragno Anna2,Rizzo Mimma2

Affiliation:

1. Department of Interdisciplinary Medicine, University of Bari “Aldo Moro”, 70124 Bari, Italy

2. Medical Oncology Unit, Azienda Ospedaliera Universitaria Consorziale, Policlinico di Bari, 70124 Bari, Italy

Abstract

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.

Publisher

MDPI AG

Reference85 articles.

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