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

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.