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The Use of Reverse Phase Protein Arrays RPPA to Explore Protein Expression Variation within Individual Renal Cell Cancers
Published on: January 22, 2013
Genomic Profiling and Molecular Characterization of Clear Cell Renal Cell Carcinoma
Gaetano Pezzicoli1, Federica Ciciriello1, Vittoria Musci1
1Department of Interdisciplinary Medicine, University of Bari "Aldo Moro", 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.
Insights
Clear cell renal cell carcinoma (ccRCC) treatment advances with targeted therapies and immunotherapies. Identifying molecular predictors, like gene alteration signatures, is crucial for personalized ccRCC treatment strategies.
Area of Science:
- Oncology
- Genomics
- Translational Medicine
Background:
- Clear cell renal cell carcinoma (ccRCC) treatment has evolved significantly with targeted therapies and immunotherapies.
- Despite treatment advances, molecular predictors of response in ccRCC remain largely unidentified.
- The WHO 2022 classification marks a step towards molecularly defined renal neoplasms.
Purpose of the Study:
- To review genomic alterations in ccRCC with clinical significance.
- To discuss the prognostic and predictive roles of these genomic alterations.
- To explore the potential of molecular profiling for personalized ccRCC treatment.
Main Methods:
- Literature review of genomic alterations in ccRCC.
- Analysis of known genes including VHL, mTOR, chromatin modulators, DNA repair genes, and cyclin-dependent kinases.
- Exploration of tumor mutation burden as a predictive factor.
Main Results:
- Genomic alterations in ccRCC have pleiotropic effects influencing tumor phenotype and behavior.
- A single genomic predictor is unlikely; a signature of gene alterations is more probable.
- Genomic profiling holds potential to transform clinical practice in ccRCC management.
Conclusions:
- Personalized ccRCC treatment requires understanding the interplay of multiple genomic alterations.
- Identifying gene alteration signatures is key to predicting prognosis and treatment response.
- Integrating clinical and genomic data is essential for advancing ccRCC therapy.
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