Garcés-Eisele Javier
Molecular Biology Department, Laboratorios Clínicos de Puebla, and School of Health Sciences, Universidad Popular Autónoma del Estado de Puebla, México.
Hematology. 2012 Apr;17 Suppl 1:S66-8. doi: 10.1179/102453312X13336169155691.
The prognostic significance of minimal residual disease (MRD) has been demonstrated for a variety of hematologic malignancies. PCR based assays are among the most important methods for identifying MRD. They are aimed at detecting genetic abnormalities of residual leukemic cells with high specificity and sensitivity and represent an important diagnostic tool to assess the quality of therapeutic response, for clinical risk assessment, and for clinical management. In the present review technical aspects of different MRD detection methods are discussed which depend on the available targets regularly present in the respective leukemia type and subtype. As such fusion transcripts, gene mutations, and clonal rearrangements of antigen-receptor genes may be available for detection. Emphasis is given on discussing benefits and limitations of MRD detection and quantification in CML, AML and ALL.
微小残留病（MRD）的预后意义已在多种血液系统恶性肿瘤中得到证实。基于聚合酶链反应（PCR）的检测方法是识别MRD最重要的方法之一。这些方法旨在以高特异性和敏感性检测残留白血病细胞的基因异常，是评估治疗反应质量、进行临床风险评估和临床管理的重要诊断工具。在本综述中，讨论了不同MRD检测方法的技术方面，这些方法取决于各白血病类型和亚型中通常存在的可用靶点。因此，融合转录本、基因突变和抗原受体基因的克隆重排都可用于检测。重点讨论了慢性粒细胞白血病（CML）、急性髓系白血病（AML）和急性淋巴细胞白血病（ALL）中MRD检测和定量的益处及局限性。
