Minimal residual disease (MRD), a crucial biomarker for assessing efficacy and predicting recurrence, refers to residual tumor cells remaining in the body of patients with hematological malignancies who achieved complete remission after treatment. This study aimed to conduct a retrospective analysis of the clinical diagnosis, treatment, and MRD monitoring of a pediatric patient with multiple acute B-lymphocytic leukemia relapses, alongside a review of relevant literature. In this case, Ig rearrangement based on next-generation sequencing (NGS) was more accurate in assessing the MRD level, compared with the traditional method of MRD detection, indicating the risk of earlier relapse and guided interventions in time. Additionally, NGS-MRD detected clonal evolution, providing new ideas to further investigate the intrinsic factors of disease development.
微小残留病（MRD）是血液肿瘤患者经治疗取得完全缓解后体内残存微量肿瘤细胞的状态，也是评价治疗效果和预测疾病复发的重要标志物。本文回顾性分析了1例多次复发的急性B淋巴细胞白血病患儿的临床诊治及MRD监测过程，并进行相关文献复习。在本例患儿中，基于二代测序（NGS）的Ig重排MRD检测与传统MRD检测方法相比可更准确地评估MRD水平，更早地提示疾病复发，从而指导临床及时采取干预措施。此外，NGS-MRD还能发现疾病克隆演变，为进一步探究疾病发展的内在因素提供了新思路。.