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.
液体活检的经典定义是检测体液中的生物标志物。其中一种生物标志物是健康细胞或癌细胞在凋亡过程中释放的循环游离DNA（cfDNA）。这些片段可通过数字液滴PCR（ddPCR）或新一代测序（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）可作为监测肿瘤发生和进展的可靠生物标志物。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）也在此领域得到应用。液体活检作为一种多功能工具，在包括髓系和淋巴系白血病在内的多种恶性肿瘤的诊断、预后评估、治疗监测及微小残留病（MRD）检测中备受关注。本文系统综述了液体活检在白血病中的应用，特别聚焦于ctDNA、miRNA和外泌体在监测治疗反应、追踪克隆演变及检测微小残留病方面的临床价值。本综述强调这些工具对改善患者预后的转化意义，并概述了其融入临床实践当前面临的挑战。
Advancing Leukemia Management Through Liquid Biopsy: Insights into Biomarkers and Clinical Utility
肿瘤(癌症)患者之家