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通过液体活检推进白血病管理:对生物标志物和临床应用的见解

Advancing Leukemia Management Through Liquid Biopsy: Insights into Biomarkers and Clinical Utility.

作者信息

Hollanda Cíntia Nogueira, Gualberto Ana Cristina Moura, Motoyama Andréa Barretto, Pittella-Silva Fabio

机构信息

Laboratory of Molecular Pathology of Cancer, Faculty of Health Sciences, University of Brasilia, Brasilia 70910-900, Brazil.

出版信息

Cancers (Basel). 2025 Apr 25;17(9):1438. doi: 10.3390/cancers17091438.

Abstract

Liquid biopsy is classically defined as the detection of biomarkers in bodily fluids. One of these biomarkers can be circulating cell-free DNA (cfDNA) released by healthy or cancer cells during apoptosis. These fragments can be quantified and molecularly characterized by techniques like digital droplet PCR (ddPCR) or next-generation sequencing (NGS). By identifying common genetic and epigenetic alterations associated with specific cancer types, cfDNA or circulating tumor DNA (ctDNA) can serve as robust biomarkers for monitoring tumor initiation and progression. Other biomarkers, such as circulating microRNAs (miRNAs), extracellular vesicles, or circulating tumor cells (CTCs) are also applied in this context. Liquid biopsy has gained attention as a versatile tool for cancer diagnostics, prognosis, therapeutic monitoring, and minimal residual disease (MRD) detection across various malignancies, including hematological cancers like myeloid and lymphoid leukemias. Herein, we present a comprehensive review of liquid biopsy usage in leukemia, with a specific focus on the clinical utility of ctDNA, miRNAs, and exosomes in monitoring treatment response, tracking clonal evolution, and detecting minimal residual disease. Our review emphasizes the translational implications of these tools for improving patient outcomes and outlines current challenges in their integration into clinical practice.

摘要

液体活检传统上被定义为对体液中生物标志物的检测。这些生物标志物之一可以是健康细胞或癌细胞在凋亡过程中释放的循环游离DNA(cfDNA)。这些片段可以通过数字液滴PCR(ddPCR)或下一代测序(NGS)等技术进行定量和分子特征分析。通过识别与特定癌症类型相关的常见遗传和表观遗传改变,cfDNA或循环肿瘤DNA(ctDNA)可以作为监测肿瘤发生和进展的强大生物标志物。其他生物标志物,如循环微小RNA(miRNA)、细胞外囊泡或循环肿瘤细胞(CTC)也在此背景下得到应用。液体活检作为一种通用工具,在包括髓系和淋巴系白血病等血液系统癌症在内的各种恶性肿瘤的癌症诊断、预后、治疗监测和微小残留病(MRD)检测方面受到了关注。在此,我们对液体活检在白血病中的应用进行了全面综述,特别关注ctDNA、miRNA和外泌体在监测治疗反应、追踪克隆进化和检测微小残留病方面的临床应用。我们的综述强调了这些工具对改善患者预后的转化意义,并概述了将其整合到临床实践中的当前挑战。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6c17/12070883/6a9554ffa8a5/cancers-17-01438-g001.jpg

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