Oncology

Comprehensive Summary

This article studies the use of deep learning in predicting genetic aberrations in acute myeloid leukemia (AML) from single-cell images. To conduct this research, the authors first compiled a dataset of more than 2,000,000 single-cell images from 408 patients with AML. Then, using this dataset, a convolutional neural network was trained for the prediction of various therapy-relevant genetic alterations. The main findings of this paper include significant predictions of presence of favorable risk genetic alterations according to the ELN 2017 classification by the deep neural network. In addition, in the temporal validation cohort the ELN favorable risk status was still predictable by the neural network with a median AUROC of 0.64. The authors also tested whether their neural network could directly predict CBFB::MYH11 from filtered single-cell images of eosinophils and they found that the patient-level AUROC for the predictions using 5- fold cross validation was 0.93. Lastly, the FLT3-ITD mutation status could be significantly predicted using the neural network with a patient-level AUROC of 0.79 and the proposed pipeline in the study predicted MRC cytogenetics with a patient-level AUROC of 0.65. Overall, this study introduces a pipeline that extracts genetic features from Pappenheim-stained whole bone marrow smear scans and uses 2 deep learning models to classify cell regions and predict genetic features. This pipeline was able to predict NPM1 mutations, FLT3 mutations, the ELN 2017 favorable genetic risk group, and CBFB::MYH11 rearrangements with high AUROCs.

Outcomes and Implications

This research is important because the cost and labor associated with genetic testing is significantly higher than the pipeline introduced in this paper using stained bone marrow slides and deep learning. Furthermore, the research proposed in this paper is critical for when rapid clinical decision making is vital but genetic information is pending. Therefore, this work applies to medicine because the proposed platform can assist clinicians in choosing the most appropriate therapy for patients. However, some of the limitations of this study include the low AUROC for the prediction of MRC cytogenetics, and the inability to assess model generalizability when using slides from other institutions outside of the data obtained in the paper as this wasn’t studied. Therefore, addressing these limitations and testing other rare genetic markers will have to be studied in the future before being used in the clinic.

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© 2025 AIIM. Created by AIIM IT Team

AIIM Research

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© 2025 AIIM. Created by AIIM IT Team

AIIM Research

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© 2025 AIIM. Created by AIIM IT Team