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液体活检:当前趋势和未来在实体瘤临床应用中的展望。

Updates on liquid biopsy: current trends and future perspectives for clinical application in solid tumors.

机构信息

Department of Experimental and Clinical Biomedical Sciences "Mario Serio", University of Florence, Florence, Italy.

Department of Human Sciences and Quality of Life Promotion, San Raffaele Open University, Rome, Italy.

出版信息

Clin Chem Lab Med. 2021 Feb 5;59(7):1181-1200. doi: 10.1515/cclm-2020-1685. Print 2021 Jun 25.

Abstract

Despite advances in screening and therapeutics cancer continues to be one of the major causes of morbidity and mortality worldwide. The molecular profile of tumor is routinely assessed by surgical or bioptic samples, however, genotyping of tissue has inherent limitations: it represents a single snapshot in time and it is subjected to spatial selection bias owing to tumor heterogeneity. Liquid biopsy has emerged as a novel, non-invasive opportunity of detecting and monitoring cancer in several body fluids instead of tumor tissue. Circulating tumor cells (CTCs), circulating tumor DNA (ctDNA), RNA (mRNA and microRNA), microvesicles, including exosomes and tumor "educated platelets" were recently identified as a source of genomic information in cancer patients which could reflect all subclones present in primary and metastatic lesions allowing sequential monitoring of disease evolution. In this review, we summarize the currently available information concerning liquid biopsy in breast cancer, colon cancer, lung cancer and melanoma. These promising issues still need to be standardized and harmonized across laboratories, before fully adopting liquid biopsy approaches into clinical practice.

摘要

尽管在筛查和治疗方面取得了进展,但癌症仍然是全球发病率和死亡率的主要原因之一。肿瘤的分子特征通常通过手术或活检样本进行评估,然而,组织的基因分型具有内在的局限性:它代表了时间上的一个单一快照,并且由于肿瘤异质性而受到空间选择偏差的影响。液体活检已成为一种新颖的、非侵入性的机会,可以在几种体液中检测和监测癌症,而不是肿瘤组织。循环肿瘤细胞 (CTC)、循环肿瘤 DNA (ctDNA)、RNA (mRNA 和 microRNA)、微泡,包括外泌体和肿瘤“受教育的血小板”,最近被确定为癌症患者基因组信息的来源,这些信息可以反映原发性和转移性病变中存在的所有亚克隆,从而允许对疾病进展进行连续监测。在这篇综述中,我们总结了目前关于乳腺癌、结肠癌、肺癌和黑色素瘤的液体活检的可用信息。在将液体活检方法完全应用于临床实践之前,这些有前途的问题仍需要在实验室之间进行标准化和协调。

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