Automated identification of phenotypically aberrant cells in acute myeloid leukemia MRD: An unsupervised machine learning approach.

e18560 Background: Measurable residual disease (MRD) serves as a robust prognostic marker in acute myeloid leukemia (AML), guiding therapeutic stratification and treatment response assessment. Invivoscribe's AML MRD Assay is a multiparametric flow cytometry (MFC) 12-color panel of 21 biomarkers to characterize potential AML blast cells using a leukemia-associated immunophenotype (LAIP) based and different-from-normal (DfN) approach. We developed an unsupervised algorithm (FlowER) to automatically identify phenotypically aberrant cells from flow cytometry data without relying on or training on human-drawn gates. This retrospective internal validation study assessed FlowER's concordance with clinical MRD gates in distinguishing aberrant from normal cell populations. Methods: We analyzed bone marrow samples from 59 AML patients and 25 normal controls processed using one tube from our panel (Tube 2: CD15, CD13, 7-AAD, CD33, CD34, CD45, CD117, HLA-DR, CD5, CD7, CD2). The 25 controls served as a healthy reference pool to establish expected phenotypic distributions. For each patient sample, after density-aware subsampling, FlowER assigned anomaly scores to all cells using k-nearest neighbor distances to the reference pool in dimensionality-reduced feature space, agnostic to immunophenotypic lineage. To validate this unsupervised approach, clinical MRD gates were independently defined by expert cytometrists using standard LAIP-based approaches. We compared median anomaly scores between these clinically-defined aberrant cells and CD45 Dim non-MRD background cells within each patient. The primary outcome was the magnitude and significance of score separation (using a Wilcoxon signed-rank test). Results: Total samples analyzed: 59 patients. Median difference in anomaly scores: MRD cells +1.328 higher (35.6% increase) vs. CD45 Dim background; p = 1.78 × 10⁻¹⁰ (one-sided Wilcoxon signed-rank test). Samples with elevated anomaly scores in MRD cells: 52/59 (88%). Cohen’s d (effect size): 1.204. Separation was consistent across CD34+, CD117+, and CD34-/CD117- LAIP populations. Conclusions: FlowER demonstrated highly significant concordance with clinical MRD gating, successfully distinguishing aberrant from normal cells within immunophenotypic populations (p = 1.78 × 10⁻¹⁰). The consistent median score elevation in clinically-aberrant cells (88% of patients) with large effect size (Cohen's d = 1.204) indicates the algorithm captures phenotypic abnormalities without requiring labeled training data or manual gate definitions. This unsupervised, reference-based approach could enable standardized MRD quantification across institutions with reduced turnaround time, complement expert-driven assessment, and reduce inter-observer variability. Prospective validation with clinical outcome correlation is warranted to assess benefit for clinicians.

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Publication Details

Journal
Journal of Clinical Oncology
Published
2026-05-28
DOI
https://doi.org/10.1200/jco.2026.44.16_suppl.e18560
Primary Topic
Acute Myeloid Leukemia Research
Type
article
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article

Automated identification of phenotypically aberrant cells in acute myeloid leukemia MRD: An unsupervised machine learning approach.

Robert Apilado, Meindert Niemeijer, Robert Andrews, Ansh Kumar et al.
Journal of Clinical Oncology
Acute Myeloid Leukemia Research
article

Automated identification of phenotypically aberrant cells in acute myeloid leukemia MRD: An unsupervised machine learning approach.

Robert Apilado, Meindert Niemeijer, Robert Andrews, Ansh Kumar, Jeffrey Edward Miller, Jake Silberg
article en

Abstract

e18560 Background: Measurable residual disease (MRD) serves as a robust prognostic marker in acute myeloid leukemia (AML), guiding therapeutic stratification and treatment response assessment. Invivoscribe's AML MRD Assay is a multiparametric flow cytometry (MFC) 12-color panel of 21 biomarkers to characterize potential AML blast cells using a leukemia-associated immunophenotype (LAIP) based and different-from-normal (DfN) approach. We developed an unsupervised algorithm (FlowER) to automatically identify phenotypically aberrant cells from flow cytometry data without relying on or training on human-drawn gates. This retrospective internal validation study assessed FlowER's concordance with clinical MRD gates in distinguishing aberrant from normal cell populations. Methods: We analyzed bone marrow samples from 59 AML patients and 25 normal controls processed using one tube from our panel (Tube 2: CD15, CD13, 7-AAD, CD33, CD34, CD45, CD117, HLA-DR, CD5, CD7, CD2). The 25 controls served as a healthy reference pool to establish expected phenotypic distributions. For each patient sample, after density-aware subsampling, FlowER assigned anomaly scores to all cells using k-nearest neighbor distances to the reference pool in dimensionality-reduced feature space, agnostic to immunophenotypic lineage. To validate this unsupervised approach, clinical MRD gates were independently defined by expert cytometrists using standard LAIP-based approaches. We compared median anomaly scores between these clinically-defined aberrant cells and CD45 Dim non-MRD background cells within each patient. The primary outcome was the magnitude and significance of score separation (using a Wilcoxon signed-rank test). Results: Total samples analyzed: 59 patients. Median difference in anomaly scores: MRD cells +1.328 higher (35.6% increase) vs. CD45 Dim background; p = 1.78 × 10⁻¹⁰ (one-sided Wilcoxon signed-rank test). Samples with elevated anomaly scores in MRD cells: 52/59 (88%). Cohen’s d (effect size): 1.204. Separation was consistent across CD34+, CD117+, and CD34-/CD117- LAIP populations. Conclusions: FlowER demonstrated highly significant concordance with clinical MRD gating, successfully distinguishing aberrant from normal cells within immunophenotypic populations (p = 1.78 × 10⁻¹⁰). The consistent median score elevation in clinically-aberrant cells (88% of patients) with large effect size (Cohen's d = 1.204) indicates the algorithm captures phenotypic abnormalities without requiring labeled training data or manual gate definitions. This unsupervised, reference-based approach could enable standardized MRD quantification across institutions with reduced turnaround time, complement expert-driven assessment, and reduce inter-observer variability. Prospective validation with clinical outcome correlation is warranted to assess benefit for clinicians.

Journal of Clinical OncologyVol. 44(16_suppl)
MesoScribe Technologies (United States) (US)
Openalex Percentile: Top 6%
Acute Myeloid Leukemia Research
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