Buccisano Francesco, Hourigan Christopher S, Walter Roland B
Department of Biomedicine and Prevention, Hematology, University Tor Vergata, Via Montpellier 1, 00133, Rome, Italy.
Myeloid Malignancies Section, Hematology Branch, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD, USA.
Curr Hematol Malig Rep. 2017 Dec;12(6):547-556. doi: 10.1007/s11899-017-0420-z.
The purpose of this review was to evaluate recent literature on detection methodologies for, and prognostic significance of, measurable ("minimal") residual disease (MRD) in acute myeloid leukemia (AML).
There is no "one-fits-all" approach to MRD testing in AML. Most exploited to date are methods relying on immunophenotypic aberrancies (identified via multiparameter flow cytometry) or genetic abnormalities (identified via PCR-based assays). Current methods have important shortcomings, including the lack of assay platform standardization/harmonization across laboratories. In parallel to refinements of existing technologies and data analysis/interpretation, new methodologies (e.g., next-generation sequencing-based assays) are emerging that eventually may complement or replace existing ones. This dynamic evolution of MRD testing has complicated comparisons between individual studies. Nonetheless, an ever-growing body of data demonstrates that a positive MRD test at various time points throughout chemotherapy and hematopoietic cell transplantation identifies patients at particularly high risks of disease recurrence and short survival even after adjustment for other risk factors.
本综述旨在评估近期关于急性髓系白血病（AML）中可测量的（“最小”）残留疾病（MRD）的检测方法及其预后意义的文献。
在AML中，没有一种适用于所有情况的MRD检测方法。迄今为止，最常用的方法是依赖免疫表型异常（通过多参数流式细胞术鉴定）或基因异常（通过基于PCR的检测鉴定）的方法。目前的方法存在重要缺陷，包括各实验室间检测平台缺乏标准化/统一化。在对现有技术以及数据分析/解释进行改进的同时，新的方法（如下一代测序检测）正在出现，最终可能补充或取代现有方法。MRD检测的这种动态演变使得各个研究之间的比较变得复杂。尽管如此，越来越多的数据表明，在化疗和造血细胞移植的各个时间点进行的MRD检测呈阳性，即使在调整其他风险因素后，也能识别出疾病复发风险特别高和生存期短的患者。
