最小/可测的残留疾病（MRD）监测正逐渐改变血液恶性肿瘤的治疗。在明显临床缓解的患者中检测疾病的持续/复发可能提供精细的风险分层和治疗决策工具。从传统的实时定量聚合酶链式反应（RQ-PCR）到下一代测序和数字液滴PCR（ddPCR），多种分子技术被用于监测MRD，在不同的组织或区域通过检测融合基因、免疫球蛋白和T细胞受体基因重排或疾病特异性突变。尽管存在一些限制，但RQ-PCR仍然是MRD分析的黄金标准。ddPCR被认为是第三代PCR，可以直接、绝对和准确地检测和定量低丰度核酸。在MRD监测的情况下，它具有不需要参考标准曲线建立诊断样本稀释和允许将样本数量降至定量范围以下的主要优点。目前，ddPCR在临床实践中广泛应用MRD监测仍受到国际指南的缺乏限制。然而，在急性淋巴细胞白血病以及慢性淋巴细胞白血病和非霍奇金淋巴瘤中，其在临床试验中的应用正在逐渐增长。本文旨在总结关于ddPCR用于慢性淋巴细胞性恶性肿瘤MRD监测的积累数据，并强调这种新技术有可能进入临床实践中。版权所有© 2023 Assanto、Del Giudice、Della Starza、Soscia、Cavalli、Cola、Bellomarino、Di Trani、Guarini和Foà。

Minimal/measurable residual disease (MRD) monitoring is progressively changing the management of hematologic malignancies. The possibility of detecting the persistence/reappearance of disease in patients in apparent clinical remission offers a refined risk stratification and a treatment decision making tool. Several molecular techniques are employed to monitor MRD, from conventional real-time quantitative polymerase chain reaction (RQ-PCR) to next generation sequencing and digital droplet PCR (ddPCR), in different tissues or compartments through the detection of fusion genes, immunoglobulin and T-cell receptor gene rearrangements or disease-specific mutations. RQ-PCR is still the gold standard for MRD analysis despite some limitations. ddPCR, considered the third-generation PCR, yields a direct, absolute, and accurate detection and quantification of low-abundance nucleic acids. In the setting of MRD monitoring it carries the major advantage of not requiring a reference standard curve built with the diagnostic sample dilution and of allowing to reduce the number of samples below the quantitative range. At present, the broad use of ddPCR to monitor MRD in the clinical practice is limited by the lack of international guidelines. Its application within clinical trials is nonetheless progressively growing both in acute lymphoblastic leukemia as well as in chronic lymphocytic leukemia and non-Hodgkin lymphomas. The aim of this review is to summarize the accumulating data on the use of ddPCR for MRD monitoring in chronic lymphoid malignancies and to highlight how this new technique is likely to enter into the clinical practice.Copyright © 2023 Assanto, Del Giudice, Della Starza, Soscia, Cavalli, Cola, Bellomarino, Di Trani, Guarini and Foà.