Chang J, Jia Y J, Wang H X, Qi B Q, Cai X J, Sun Q, Zhu X F, Xiao Z J, Wang H J
State Key Laboratory of Experimental Hematology, National Clinical Research Center for Blood Diseases, Haihe Laboratory of Cell Ecosystem, Institute of Hematology & Blood Diseases Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Tianjin 300020, China Tianjin Institutes of Health Science, Tianjin 301600, China.
Zhonghua Xue Ye Xue Za Zhi. 2024 Dec 14;45(12):1138-1141. doi: 10.3760/cma.j.cn121090-20240527-00190.
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）是评估疗效和预测复发的关键生物标志物，指的是血液系统恶性肿瘤患者在治疗后达到完全缓解但体内仍残留的肿瘤细胞。本研究旨在对一名多次急性B淋巴细胞白血病复发的儿科患者的临床诊断、治疗及MRD监测进行回顾性分析，并复习相关文献。在该病例中，基于二代测序（NGS）的Ig重排在评估MRD水平方面比传统的MRD检测方法更准确，提示更早复发的风险并及时指导干预。此外，NGS-MRD检测到克隆进化，为进一步研究疾病发生发展的内在因素提供了新思路。
