Next-generation sequencing-based minimal residual disease detection reveals clonal evolution in pediatric acute B-lymphoblastic leukemia: a case report and literature review

VernacularTitle:基于二代测序的微小残留病检测发现儿童急性B淋巴细胞白血病克隆演变1例报告并文献复习
Author: Jiao CHANG ¹ ; Yujiao JIA ; Haoxu WANG ; Benquan QI ; Xiaojin CAI ; Qi SUN ; Xiaofan ZHU ; Zhijian XIAO ; Huijun WANG
Author Information

1. 中国医学科学院血液病医院（中国医学科学院血液学研究所），血液与健康全国重点实验室，国家血液系统疾病临床医学研究中心，细胞生态海河实验室，天津　300020
Publication Type:Journal Article
From: Chinese Journal of Hematology 2024;45(12):1138-1141
CountryChina
Language:Chinese
Abstract: 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.