Monitoring of measurable residual disease by next-generation sequencing in patients with acute myeloid leukaemia.

ABSTRACT: Measurable residual disease (MRD) is a strong prognostic factor in acute myeloid leukaemia (AML). Next-generation sequencing (NGS) offers promise but must distinguish true signal from background. We assessed MRD in 98 adult AML patients in first complete remission after intensive chemotherapy using a duplex unique molecular identifier (UMI)-based NGS capture panel. Error reduction analysis showed up to a 20-fold decrease in artefactual calls versus conventional sequencing. Linearity studies with serial dilutions confirmed accurate quantification down to 0.01% variant allele frequency. In this cohort, NGS-MRD positivity did not significantly affect overall survival (OS) or relapse-free survival (RFS) after one course of chemotherapy. However, NGS-MRD positivity >0.1%, excluding DNMT3A, TET2

SUBMITTER: Boudry A 

PROVIDER: S-EPMC12624157 | biostudies-literature | 2025 Nov

REPOSITORIES: biostudies-literature