Current Landscape of Genomic Biomarkers in Clear Cell Renal Cell Carcinoma

Brittney H. Cotta, Toni K. Choueiri, Marcin Cieslik, Pooja Ghatalia, Rohit Mehra, Todd M. Morgan, Ganesh S. Palapattu, Brian M. Shuch, Ulka N. Vaishampayan, Ebenezer M. Van Allen, A. Ari Hakimi, Simpa S. Salami

Research output: Contribution to journalReview articlepeer-review

7 Scopus citations


Context: Dramatic gains in our understanding of the molecular biology of clear cell renal cell carcinoma (ccRCC) have created a foundation for clinical translation to improve patient care. Objective: To review and contextualize clinically impactful data surrounding genomic biomarkers in ccRCC. Evidence acquisition: A systematic literature search was conducted focusing on genomic-based biomarkers with an emphasis on studies assessing clinical outcomes. Evidence synthesis: The advancement of tumor sequencing techniques has led to a rapid increase in the knowledge of the molecular underpinnings of ccRCC and with that the discovery of multiple candidate genomic biomarkers. These include somatic gene mutations such as VHL, PBRM1, SETD2, and BAP1; copy number variations; transcriptomic multigene signatures; and specific immune cell populations. Many of these biomarkers have been assessed for their association with survival and a smaller number as potential predictors of a response to systemic therapy. In this scoping review, we discuss many of these biomarkers in detail. Further studies are needed to continue to refine and validate these molecular tools for risk stratification, with the ultimate goal of improving clinical decision-making and patient outcomes. Conclusions: While no tissue or blood-based biomarkers for ccRCC have been incorporated into routine clinical practice to date, the field continues to expand rapidly. There remains a critical need to develop and validate these tools in order to improve the care for patients with kidney cancer. Patient summary: Genomic biomarkers have the potential to better predict outcome and select the most appropriate treatment for patients with kidney cancer; however, further research is needed before any of these currently developed biomarkers are adopted into clinical practice.

Original languageEnglish
Pages (from-to)166-175
Number of pages10
JournalEuropean Urology
Issue number2
StatePublished - Aug 2023


  • Biomarkers, Tumor/genetics
  • Carcinoma, Renal Cell/drug therapy
  • DNA Copy Number Variations
  • Genomics
  • Humans
  • Kidney Neoplasms/pathology
  • Mutation
  • Oncologic outcomes
  • Prognosis
  • Kidney cancer
  • Biomarkers
  • Survival


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