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

## TL;DR

This paper shows how next-generation sequencing improves MRD detection in a child with recurring B-cell leukemia, revealing tumor evolution and guiding treatment.

## Contribution

NGS-based MRD detection provides earlier recurrence signals and reveals clonal evolution in pediatric leukemia.

## Key findings

- NGS-based Ig rearrangement MRD detection outperforms traditional methods in accuracy.
- NGS-MRD identified clonal evolution, offering insights into disease progression.
- Early detection of recurrence enabled timely clinical intervention.

## Abstract

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。