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Published on: March 5, 2018
Next-Generation Sequencing for Minimal Residual Disease Detection in Pediatric Acute Lymphoblastic Leukemia:
Nan Liu1, Yi Zheng1, Xiaojun Xu1
1Department of Hematology-Oncology, Children's Hospital of Zhejiang University School of Medicine, National Clinical Research Center for Children and Adolescents' Health and Diseases, Hangzhou 310052, China.
Abstract:
Minimal residual disease (MRD) is the most robust independent prognostic biomarker for pediatric acute lymphoblastic leukemia (ALL). Conventional MRD detection assays suffer from insufficient sensitivity and inherent technical limitations, failing to identify ultra-low-level leukemic blasts and thereby contributing to disease relapse. Next-generation sequencing (NGS)-based MRD detection (NGS-MRD) overcomes these drawbacks by targeting immunoglobulin (Ig)/T-cell receptor (TCR) gene rearrangements and enabling the precise quantification of residual leukemic clones. In recent years, NGS-MRD has undergone extensive technological optimization in target panel design, result interpretation and sample type expansion, and has been validated for its clinical utility in therapeutic threshold definition, prognostic stratification, post-therapy monitoring and treatment adjustments in pediatric ALL. This review synthesizes the latest technological refinements and clinical applications of NGS-MRD in pediatric ALL, critically discusses the current challenges that limit its routine clinical use, and proposes future research directions to address these issues.
Insights
Next-generation sequencing for minimal residual disease (NGS-MRD) offers superior sensitivity for detecting leukemia in children. This advanced method improves prognostic accuracy and treatment decisions in pediatric acute lymphoblastic leukemia (ALL).
Area of Science:
- Hematology
- Oncology
- Genomics
Background:
- Minimal residual disease (MRD) is a key prognostic factor in pediatric acute lymphoblastic leukemia (ALL).
- Conventional MRD assays lack sensitivity and have technical limitations, potentially leading to relapse.
- Next-generation sequencing-based MRD detection (NGS-MRD) provides precise quantification of residual leukemic clones.
Purpose of the Study:
- To review technological advancements in NGS-MRD for pediatric ALL.
- To synthesize the clinical applications of NGS-MRD in pediatric ALL management.
- To identify challenges and future directions for routine NGS-MRD implementation.
Main Methods:
- Targeting immunoglobulin (Ig)/T-cell receptor (TCR) gene rearrangements for clonal detection.
- Technological optimization in panel design, result interpretation, and sample types.
- Validation of NGS-MRD for clinical utility in pediatric ALL.
Main Results:
- NGS-MRD overcomes sensitivity limitations of conventional assays.
- NGS-MRD has been validated for therapeutic threshold definition, prognostic stratification, and monitoring.
- Extensive optimization has expanded the utility of NGS-MRD in pediatric ALL.
Conclusions:
- NGS-MRD is a powerful tool for improving outcomes in pediatric ALL.
- Addressing current challenges is crucial for widespread clinical adoption.
- Future research should focus on further refining NGS-MRD protocols and applications.
