Hantel Andrew, Stock Wendy, Kosuri Satyajit
Department of Medicine, Section of Hematology/Oncology, The University of Chicago, Chicago, IL.
Department of Medicine, Section of Hematology/Oncology, The University of Chicago, Chicago, IL.
Clin Lymphoma Myeloma Leuk. 2018 Oct;18(10):636-647. doi: 10.1016/j.clml.2018.06.017. Epub 2018 Jun 27.
Minimal residual disease (MRD) testing in acute myeloid leukemia is increasingly being used to assess treatment response and stratify the risk of relapse for individual patients. Molecular methods for MRD testing began with PCR-based assays for individual recurrent mutations. To date, there is robust evidence for testing NPM1, CBFB-MYH11, and RUNX1/RUNXT1 mutations using this approach, though the best timing and threshold level for each mutation varies. More recent approaches have been with PCR-based multigene panels, occasionally combined with flow cytometric techniques, and next-generation sequencing techniques. This review outlines the various techniques used in molecular approaches to MRD, the evidence behind individual mutation testing, and the novel approaches for evaluating multigene MRD so that clinicians can understand and incorporate these evaluations into their practice.
急性髓系白血病的微小残留病（MRD）检测越来越多地用于评估个体患者的治疗反应并分层复发风险。MRD检测的分子方法始于针对个体复发性突变的基于PCR的检测。迄今为止，有充分证据支持使用这种方法检测NPM1、CBFB-MYH11和RUNX1/RUNXT1突变，尽管每个突变的最佳检测时机和阈值水平各不相同。最近的方法是基于PCR的多基因检测板，偶尔结合流式细胞术技术和下一代测序技术。本综述概述了用于MRD分子检测方法的各种技术、单个突变检测背后的证据以及评估多基因MRD的新方法，以便临床医生能够理解并将这些评估纳入他们的实践中。
