Identification of leukemia-enriched signature through the development of a comprehensive pediatric single-cell atlas

Abstract Single-cell transcriptome profiling enables unparalleled characterization of the heterogeneous microenvironment of pediatric leukemias. To facilitate comparative analyses and generate pediatric leukemia signatures, we collect, process, and annotate single-cell data comprising over 540,000 c...

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Main Authors: Hope L. Mumme, Chenbin Huang, Denis Ohlstrom, Mojtaba Bakhtiari, Sunil S. Raikar, Deborah DeRyckere, Muna Qayed, Sharon M. Castellino, Daniel S. Wechsler, Christopher C. Porter, Douglas K. Graham, Swati S. Bhasin, Manoj Bhasin
Format: Article
Language:English
Published: Nature Portfolio 2025-05-01
Series:Nature Communications
Online Access:https://doi.org/10.1038/s41467-025-59362-5
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author Hope L. Mumme
Chenbin Huang
Denis Ohlstrom
Mojtaba Bakhtiari
Sunil S. Raikar
Deborah DeRyckere
Muna Qayed
Sharon M. Castellino
Daniel S. Wechsler
Christopher C. Porter
Douglas K. Graham
Swati S. Bhasin
Manoj Bhasin
author_facet Hope L. Mumme
Chenbin Huang
Denis Ohlstrom
Mojtaba Bakhtiari
Sunil S. Raikar
Deborah DeRyckere
Muna Qayed
Sharon M. Castellino
Daniel S. Wechsler
Christopher C. Porter
Douglas K. Graham
Swati S. Bhasin
Manoj Bhasin
author_sort Hope L. Mumme
collection DOAJ
description Abstract Single-cell transcriptome profiling enables unparalleled characterization of the heterogeneous microenvironment of pediatric leukemias. To facilitate comparative analyses and generate pediatric leukemia signatures, we collect, process, and annotate single-cell data comprising over 540,000 cells from 159 different pediatric acute leukemia (myeloid, lymphoid, mixed phenotype lineages) and healthy bone marrow (BM) samples, profiled in our lab and curated from publicly available studies. The analysis identifies a leukemia-enriched signature of nine genes with over-expression in leukemic blast compared to healthy BM cells. This signature is also consistently over-expressed in leukemia samples compared to normal BM in bulk RNA-seq datasets (over 2000 samples). Outcome-based analysis on diagnosis samples using measurable residual disease (MRD) status depicts a significant association of oncogene-induced senescence and g-protein activation pathways with MRD positivity. MRD positivity across pediatric leukemias is also correlated with significant depletion of CD8+ and CD4+ naïve T-cells and M1-macrophages at diagnosis. To enable easy access to this comprehensive pediatric leukemia single-cell atlas, we develop the Pediatric Single-cell Cancer Atlas (PedSCAtlas, https://bhasinlab.bmi.emory.edu/PediatricSCAtlas/ ). The atlas allows for quick exploration of single-cell data based on genes, cell type composition, and clinical outcomes to understand the cellular landscape of pediatric leukemias.
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spelling doaj-art-69ff25b719bf48608ceea0475aa564e72025-08-20T03:52:20ZengNature PortfolioNature Communications2041-17232025-05-0116111810.1038/s41467-025-59362-5Identification of leukemia-enriched signature through the development of a comprehensive pediatric single-cell atlasHope L. Mumme0Chenbin Huang1Denis Ohlstrom2Mojtaba Bakhtiari3Sunil S. Raikar4Deborah DeRyckere5Muna Qayed6Sharon M. Castellino7Daniel S. Wechsler8Christopher C. Porter9Douglas K. Graham10Swati S. Bhasin11Manoj Bhasin12Department of Biomedical Informatics, Emory UniversityDepartment of Biomedical Informatics, Emory UniversityCoulter Department of Biomedical Engineering, Georgia Institute of TechnologyDepartment of Pediatrics, Emory University School of MedicineDepartment of Pediatrics, Emory University School of MedicineDepartment of Pediatrics, Emory University School of MedicineDepartment of Pediatrics, Emory University School of MedicineDepartment of Pediatrics, Emory University School of MedicineDepartment of Pediatrics, Emory University School of MedicineDepartment of Pediatrics, Emory University School of MedicineDepartment of Pediatrics, Emory University School of MedicineDepartment of Pediatrics, Emory University School of MedicineDepartment of Biomedical Informatics, Emory UniversityAbstract Single-cell transcriptome profiling enables unparalleled characterization of the heterogeneous microenvironment of pediatric leukemias. To facilitate comparative analyses and generate pediatric leukemia signatures, we collect, process, and annotate single-cell data comprising over 540,000 cells from 159 different pediatric acute leukemia (myeloid, lymphoid, mixed phenotype lineages) and healthy bone marrow (BM) samples, profiled in our lab and curated from publicly available studies. The analysis identifies a leukemia-enriched signature of nine genes with over-expression in leukemic blast compared to healthy BM cells. This signature is also consistently over-expressed in leukemia samples compared to normal BM in bulk RNA-seq datasets (over 2000 samples). Outcome-based analysis on diagnosis samples using measurable residual disease (MRD) status depicts a significant association of oncogene-induced senescence and g-protein activation pathways with MRD positivity. MRD positivity across pediatric leukemias is also correlated with significant depletion of CD8+ and CD4+ naïve T-cells and M1-macrophages at diagnosis. To enable easy access to this comprehensive pediatric leukemia single-cell atlas, we develop the Pediatric Single-cell Cancer Atlas (PedSCAtlas, https://bhasinlab.bmi.emory.edu/PediatricSCAtlas/ ). The atlas allows for quick exploration of single-cell data based on genes, cell type composition, and clinical outcomes to understand the cellular landscape of pediatric leukemias.https://doi.org/10.1038/s41467-025-59362-5
spellingShingle Hope L. Mumme
Chenbin Huang
Denis Ohlstrom
Mojtaba Bakhtiari
Sunil S. Raikar
Deborah DeRyckere
Muna Qayed
Sharon M. Castellino
Daniel S. Wechsler
Christopher C. Porter
Douglas K. Graham
Swati S. Bhasin
Manoj Bhasin
Identification of leukemia-enriched signature through the development of a comprehensive pediatric single-cell atlas
Nature Communications
title Identification of leukemia-enriched signature through the development of a comprehensive pediatric single-cell atlas
title_full Identification of leukemia-enriched signature through the development of a comprehensive pediatric single-cell atlas
title_fullStr Identification of leukemia-enriched signature through the development of a comprehensive pediatric single-cell atlas
title_full_unstemmed Identification of leukemia-enriched signature through the development of a comprehensive pediatric single-cell atlas
title_short Identification of leukemia-enriched signature through the development of a comprehensive pediatric single-cell atlas
title_sort identification of leukemia enriched signature through the development of a comprehensive pediatric single cell atlas
url https://doi.org/10.1038/s41467-025-59362-5
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