Najafi Sajad, Majidpoor Jamal, Mortezaee Keywan
Department of Medical Biotechnology, School of Advanced Technologies in Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran; Cellular and Molecular Biology Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
Department of Anatomy, School of Medicine, Infectious Diseases Research Center, Gonabad University of Medical Sciences, Gonabad, Iran.
Clin Chim Acta. 2024 Jan 15;553:117674. doi: 10.1016/j.cca.2023.117674. Epub 2023 Nov 23.
Liquid biopsy refers to a set of pathological samples retrieved from non-solid sources, such as blood, cerebrospinal fluid, urine, and saliva through non-invasive or minimally invasive approaches. In the recent decades, an increasing number of studies have focused on clinical applications and improving technological investigation of liquid biopsy biosources for diagnostic goals particularly in cancer. Materials extracted from these sources and used for medical evaluations include cells like circulating tumor cells (CTCs), tumor-educated platelets (TEPs), cell-free nucleic acids released by cells, such as circulating tumor DNA (ctDNA), cell-free DNA (cfDNA), cell-free RNA (cfRNA), and exosomes. Playing significant roles in the pathogenesis of human malignancies, analysis of these sources can provide easier access to genetic and transcriptomic information of the cancer tissue even better than the conventional tissue biopsy. Notably, they can represent the inter- and intra-tumoral heterogeneity and accordingly, liquid biopsies demonstrate strengths for improving diagnosis in early detection and screening, monitoring and follow-up after therapies, and personalization of therapeutical strategies in various types of human malignancies. In this review, we aim to discuss the roles, functions, and analysis approaches of liquid biopsy sources and their clinical implications in human malignancies with a focus on colorectal cancer.
液体活检是指通过非侵入性或微创方法从非固体来源(如血液、脑脊液、尿液和唾液)获取的一组病理样本。在最近几十年中,越来越多的研究聚焦于液体活检生物样本的临床应用和技术研究改进,以实现诊断目标,尤其是在癌症领域。从这些来源提取并用于医学评估的物质包括循环肿瘤细胞(CTC)、肿瘤驯化血小板(TEP)等细胞,细胞释放的游离核酸,如循环肿瘤DNA(ctDNA)、游离DNA(cfDNA)、游离RNA(cfRNA)以及外泌体。这些样本来源在人类恶性肿瘤的发病机制中发挥着重要作用,对它们的分析能够比传统组织活检更便捷地获取癌症组织的遗传和转录组信息。值得注意的是,它们可以体现肿瘤间和肿瘤内的异质性,因此,液体活检在改善早期检测和筛查中的诊断、治疗后的监测与随访以及各类人类恶性肿瘤治疗策略的个性化方面具有优势。在本综述中,我们旨在讨论液体活检样本来源的作用、功能和分析方法及其在人类恶性肿瘤中的临床意义,重点关注结直肠癌。