研究动态
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清除细胞肾癌基因组生物标志物的当前景观。

Current Landscape of Genomic Biomarkers in Clear Cell Renal Cell Carcinoma.

发表日期:2023 Apr 19
作者: 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
来源: EUROPEAN UROLOGY

摘要:

对结节性肾细胞癌(ccRCC)分子生物学的深入理解带来了临床转化的基础,以改善患者护理水平。对ccRCC中基因组生物标志物相关的临床影响数据进行回顾和情境化分析。我们进行了系统的文献查找,重点关注基于基因组的生物标志物,特别是研究评估临床结果的研究。肿瘤测序技术的进步已经快速增加了对ccRCC分子基础的了解,从而发现了多个候选基因组生物标志物。这些生物标志物包括体细胞基因突变(如VHL、PBRM1、SETD2和BAP1),拷贝数变异、转录组多基因标志和特定的免疫细胞种群。其中许多生物标志物已经评估了它们与生存率的关联,还有少量作为潜在的全身治疗反应预测因子。在这个范围的回顾中,我们详细讨论了许多生物标志物。需要进一步的研究来继续优化和验证这些分子工具的风险分层,最终的目标是改善临床决策和患者预后。目前,在组织或血液基础的ccRCC生物标志物中,还没有被纳入日常临床实践,该领域仍在快速扩展。需要开发和验证这些工具,以改善肾癌患者护理水平。基因组生物标志物有可能更好地预测结果并为肾癌患者选择最适当的治疗方法,但在这些目前开发的生物标志物被采用到临床实践之前,还需要进一步的研究。版权所有©2023年欧洲泌尿专科协会。由Elsevier B.V.出版。保留所有权利。
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.Copyright © 2023 European Association of Urology. Published by Elsevier B.V. All rights reserved.