Clinical Pathology Laboratory, Flow Cytometry Division, Hospital Israelita Albert Einstein, São Paulo, Brazil.
Clinical Pathology Laboratory, Molecular Genetics Division, Hospital Israelita Albert Einstein, São Paulo, Brazil.
Int J Lab Hematol. 2021 Jun;43(3):354-363. doi: 10.1111/ijlh.13463. Epub 2021 Jan 10.
Minimal Residual Disease (MRD) is the most important independent prognostic factor in acute lymphoblastic leukemia (ALL) and refers to the deep level of measurable disease in cases with complete remission by conventional pathologic analysis, especially by cytomorphology. MRD can be detected by multiparametric flow cytometry, molecular approaches such as quantitative polymerase chain reaction for immunoglobulin and T-cell receptor (IG/TR) gene rearrangements or fusion genes transcript, and high-throughput sequencing for IG/TR. Despite the proven clinical usefulness in detecting MRD, these methods have differences in sensitivity, specificity, applicability, turnaround time and cost. Knowing and understanding these differences, as well as the principles and limitations of each technology, is essential to laboratory standardization and correct interpretation of MRD results in line with treatment time points, therapeutic settings, and clinical trials. Here, we review the methodological approaches to measure MRD in ALL and discuss the advantages and limitations of the most commonly used techniques.
微小残留病灶 (MRD) 是急性淋巴细胞白血病 (ALL) 最重要的独立预后因素，是指通过常规病理分析，尤其是通过细胞形态学检查达到完全缓解病例中的可测量疾病深度水平。MRD 可通过多参数流式细胞术、定量聚合酶链反应 (qPCR) 等分子方法检测免疫球蛋白和 T 细胞受体 (IG/TR) 基因重排或融合基因转录，以及高通量测序检测 IG/TR。尽管这些方法在检测 MRD 方面具有临床应用价值，但它们在灵敏度、特异性、适用性、周转时间和成本方面存在差异。了解和理解这些差异，以及每种技术的原理和局限性，对于实验室标准化和根据治疗时间点、治疗环境和临床试验正确解释 MRD 结果至关重要。在这里，我们综述了 ALL 中测量 MRD 的方法学方法，并讨论了最常用技术的优缺点。
