医学
BAP1型
肾细胞癌
肾癌
生物标志物发现
肾透明细胞癌
生物信息学
生物标志物
癌症
肿瘤科
计算生物学
内科学
蛋白质组学
基因
生物
遗传学
作者
Brittney Cotta,Toni K. Choueiri,Marcin Cieślik,Pooja Ghatalia,Rohit Mehra,Todd M. Morgan,Ganesh S. Palapattu,Brian Shuch,Ulka N. Vaishampayan,Eliezer M. Van Allen,A. Ari Hakimi,Simpa S. Salami
标识
DOI:10.1016/j.eururo.2023.04.003
摘要
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.
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