ArticleBritish journal of haematology2025
Monitoring of measurable residual disease by next-generation sequencing in patients with acute myeloid leukaemia.
Article in British journal of haematology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.
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Who cites it
3 citing papers in PubMed.
- Ultra-high-sensitivity next-generation sequencing-based MRD predicts outcome in intensively treated older patients with acute myeloid leukemia: results from the ALFA-1200 cohort.Blood cancer journal · 2026Article
- Advances in measurable residual disease assessment for acute myeloid leukemia: from cytogenetics and molecular biology to assessment of the methylation pattern and surface-enhanced Raman scattering as emerging technologies.Biomarker research · 2025Review
- Monitoring of measurable residual disease by next-generation sequencing in patients with acute myeloid leukaemia.British journal of haematology · 2025Article
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17 authors.
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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, ASXL1, IDH1 and IDH2 mutations, was significantly associated with inferior outcomes after two courses (OS: hazard ratio [HR] = 3.04, p = 0.0173; RFS: HR = 2.83, p = 0.0097). Combining multiparameter flow cytometry (MFC-MRD) with NGS-MRD identified a double-positive subgroup with particularly poor outcomes after the first course (OS: HR = 7.98, p < 0.001; RFS: HR = 7.87, p < 0.001). These findings underscore that duplex UMI-based NGS is a sensitive, quantitative approach for MRD assessment in AML, offering prognostic information complementary to MFC-MRD.
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