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.
To review and contextualize clinically impactful data surrounding genomic biomarkers in ccRCC.
A systematic literature search was conducted focusing on genomic-based biomarkers with an emphasis on studies assessing clinical outcomes.
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.
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.
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.
European urology. 2023 Apr 19 [Epub ahead of print]
Brittney H Cotta, Toni K Choueiri, Marcin Cieslik, Pooja Ghatalia, Rohit Mehra, Todd M Morgan, Ganesh S Palapattu, Brian Shuch, Ulka Vaishampayan, Eliezer Van Allen, A Ari Hakimi, Simpa S Salami
Department of Urology, Michigan Medicine, Ann Arbor, MI, USA., Department of Medical Oncology, Dana-Farber Cancer Institute, Boston, MA, USA., Department of Pathology, Michigan Medicine, Ann Arbor, MI, USA; Michigan Center for Translational Pathology, Michigan Medicine, Ann Arbor, MI, USA., Department of Hematology and Oncology, Fox Chase Cancer Center, Philadelphia, PA, USA., Department of Pathology, Michigan Medicine, Ann Arbor, MI, USA; Michigan Center for Translational Pathology, Michigan Medicine, Ann Arbor, MI, USA; University of Michigan Rogel Cancer Center, Ann Arbor, MI, USA., Department of Urology, Michigan Medicine, Ann Arbor, MI, USA; University of Michigan Rogel Cancer Center, Ann Arbor, MI, USA., Department of Urology, University of California, Los Angeles, CA, USA., University of Michigan Rogel Cancer Center, Ann Arbor, MI, USA; Department of Internal Medicine, Michigan Medicine, Ann Arbor, MI, USA., Division of Urology, Memorial Sloan Kettering Cancer Center, New York, NY, USA., Department of Urology, Michigan Medicine, Ann Arbor, MI, USA; Michigan Center for Translational Pathology, Michigan Medicine, Ann Arbor, MI, USA; University of Michigan Rogel Cancer Center, Ann Arbor, MI, USA. Electronic address: .
PubMed http://www.ncbi.nlm.nih.gov/pubmed/37085424