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肾细胞癌的分子特征和诊断标准,重点是液体活检。

Molecular characterization and diagnostic criteria of renal cell carcinoma with emphasis on liquid biopsies.

机构信息

Section of Pathological Anatomy, Polytechnic University of the Marche Region, School of Medicine, United Hospitals, Ancona, Italy.

Division of Oncology, S. Orsola-Malpighi Hospital, Bologna, Italy.

出版信息

Expert Rev Mol Diagn. 2020 Feb;20(2):141-150. doi: 10.1080/14737159.2019.1665510. Epub 2019 Sep 11.

Abstract

: Over the past 6 years, important genomic and transcriptomic studies performed on RCC reported a comprehensive molecular description of RCC pathogenic alterations. Such molecular findings pave the way for an integrated classification, based on histopathology aspects and molecular alterations in order to personalize the clinical management of RCC.: The aim of this review is to evaluate the current knowledge and the potential value of liquid biopsy in RCC. Studies on presence and analysis of circulating tumor DNA (ctDNA), circulating RNA, specific microRNA, long non-coding RNA, and circulating tumor cells are reported for each phase of disease, from the diagnostic setting to the localized disease and, lastly, in the metastatic stage.: Advantages of liquid biopsies compared to serial tissue sampling are numerous. However, some limitations must be addressed before considering liquid biopsy as a noninvasive biomarker of clinical utility. The suboptimal sensitivity depends on the assessment technique and genetic platforms used, the tumor organ, the tumor stage, tumor heterogeneity, and clonality. The rate of discordance with tumor tissue genotyping may depends on temporal heterogeneity, spatial heterogeneity, and/or assay error (false-negative or false-positive genotyping).

摘要

: 在过去的 6 年中,对 RCC 进行的重要基因组和转录组研究报告了 RCC 发病机制改变的全面分子描述。这些分子发现为基于组织病理学特征和分子改变的综合分类铺平了道路,以便为 RCC 的临床管理实现个体化。: 本综述的目的是评估液体活检在 RCC 中的现有知识和潜在价值。报告了在疾病的各个阶段(从诊断设置到局限性疾病,最后到转移阶段)对循环肿瘤 DNA(ctDNA)、循环 RNA、特定 microRNA、长非编码 RNA 和循环肿瘤细胞的存在和分析的研究。: 与连续组织采样相比,液体活检具有许多优势。然而,在将液体活检视为具有临床实用性的非侵入性生物标志物之前,必须解决一些限制。评估技术和使用的遗传平台、肿瘤器官、肿瘤分期、肿瘤异质性和克隆性决定了其敏感性欠佳。与肿瘤组织基因分型的不一致率可能取决于时间异质性、空间异质性和/或检测误差(假阴性或假阳性基因分型)。

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