An NGS based MRD evaluation from acute myeloid leukemia patients
Bin Chen1, Lingling Wang2, Zhe Wang1
1Sino-US Diagnostics Lab, Tianjin Enterprise Key Laboratory of AI-aided Hematopathology Diagnosis, Tianjin, China.
International Journal of Laboratory Hematology
|February 8, 2023
Summary
A new "AML NGS-MRD hot-spot panel" reliably detects mutations in acute myeloid leukemia (AML) patients. This cost-effective tool aids in monitoring minimal residual disease (MRD) for better AML management.
Area of Science:
- Hematology
- Oncology
- Genetics
Background:
- Measurable residual disease (MRD) is a critical prognostic indicator in acute myeloid leukemia (AML).
- Next-generation sequencing (NGS) is a key technology for MRD detection in AML.
- Validating novel diagnostic tools is essential for improving AML patient outcomes.
Purpose of the Study:
- To develop and validate a novel, cost-effective next-generation sequencing (NGS) based panel for detecting minimal residual disease (MRD) in acute myeloid leukemia (AML).
- To assess the mutation landscape in Chinese AML patients and compare it with Caucasian populations.
- To establish a reliable tool for monitoring treatment response and detecting relapse in AML.
Main Methods:
- Collected NGS sequencing data from 1003 Chinese AML patients.
- Designed a compact "AML NGS-MRD hot-spot panel" targeting 178 hot-spot exons from 52 mutated genes.
- Validated the panel's performance on 205 newly diagnosed and 212 post-treatment AML patients.
Main Results:
- Identified NRAS, NPM1, FLT3-ITD, and DNMT3A as common mutations in Chinese AML patients.
- Observed distinct mutation frequency patterns in Chinese versus Caucasian AML populations.
- The "AML NGS-MRD hot-spot panel" achieved high detection rates (92.5% in newly diagnosed, 89.2% in post-treatment AML) with a minimal panel size.
- Significantly reduced frequencies of signaling pathway gene mutations (KRAS, NRAS, FLT3-ITD, KIT) were observed in post-treatment AML patients.
Conclusions:
- The "AML NGS-MRD hot-spot panel" is a reliable, cost-effective, and compact tool for detecting mutations in relapsed AML patients.
- This panel facilitates accurate MRD assessment, crucial for prognostic evaluation and treatment monitoring in AML.
- The findings contribute to a better understanding of AML genetics in the Chinese population and the utility of targeted NGS panels for MRD detection.
