Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Review
. 2023 Aug;84(2):166-175.
doi: 10.1016/j.eururo.2023.04.003. Epub 2023 Apr 19.

Current Landscape of Genomic Biomarkers in Clear Cell Renal Cell Carcinoma

Brittney H Cotta  1 , Toni K Choueiri  2 , Marcin Cieslik  3 , Pooja Ghatalia  4 , Rohit Mehra  5 , Todd M Morgan  6 , Ganesh S Palapattu  6 , Brian Shuch  7 , Ulka Vaishampayan  8 , Eliezer Van Allen  2 , A Ari Hakimi  9 , Simpa S Salami  10
Affiliations
Review

Current Landscape of Genomic Biomarkers in Clear Cell Renal Cell Carcinoma

Brittney H Cotta et al. Eur Urol. 2023 Aug.

Abstract

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.

Keywords: Biomarkers; Kidney cancer; Oncologic outcomes; Prognosis; Survival.

PubMed Disclaimer

Figures

Fig. 1 –
Fig. 1 –
Preferred Reporting Items for Systematic Reviews and Meta-analyses flow chart detailing literature search and selection of articles.
See this image and copyright information in PMC

References

    1. Sung H, Ferlay J, Siegel RL, et al. Global Cancer Statistics 2020: GLOBOCAN Estimates of Incidence and Mortality Worldwide for 36 Cancers in 185 Countries. CA Cancer J Clin 2021;71:209–49. - PubMed
    1. George DJ, Kaelin WG. The von Hippel-Lindau protein, vascular endothelial growth factor, and kidney cancer. N Engl J Med 2003;349:419–21. - PubMed
    1. Mano R, Duzgol C, Ganat M, et al. Somatic mutations as preoperative predictors of metastases in patients with localized clear cell renal cell carcinoma—an exploratory analysis. Urol Oncol 2021;39:791.e17–e24. - PMC - PubMed
    1. Varela I, Tarpey P, Raine K, et al. Exome sequencing identifies frequent mutation of the SWI/SNF complex gene PBRM1 in renal carcinoma. Nature 2011;469:539–42. - PMC - PubMed
    1. Kapur P, Peña-Llopis S, Christie A, et al. Effects on survival of BAP1 and PBRM1 mutations in sporadic clear-cell renal-cell carcinoma: a retrospective analysis with independent validation. Lancet Oncol 2013;14:159–67. - PMC - PubMed

Publication types

Substances