ArticleGenome research2021
DNA methylation epitypes highlight underlying developmental and disease pathways in acute myeloid leukemia.
Article in Genome research, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 34 papers, 1 of them a synthesis that pooled it.
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Who cites it
34 citing papers in PubMed, 1 synthesis or guideline pooled it, 49 citations in OpenAlex.
- DNA methylation in monozygotic twins discordant for acute lymphoblastic leukemia: a case report and systematic review.Clinical epigenetics · 2025Pooled it
- Non-genetic remodeling drives leukemia propagation and reveals actionable vulnerabilities in acute myeloid leukemia.Cell reports. Medicine · 2026Article
- Article
- DNA Methylation Stochasticity Is Linked to Transcriptional Variability and Convergent Epigenetic Disruption across Genetic Subtypes of Acute Myeloid Leukemia.Cancer research · 2026Article
- DNA methylation biomarkers-based pan-cancer classifier: predictive modeling for cancer classification.Genome medicine · 2026Article
- Methylome profiling reveals context-dependent chemo-resistance mechanisms and enhances risk stratification in AML.Cancer cell international · 2026Article
- The LMO2-LDB1-TAL1 complex regulates transcription networks in acute myeloid leukemia.Blood neoplasia · 2026Article
- The role of epigenetic modifications in hematological cancers.Frontiers in oncology · 2026Review
- Resolving inter- and intra-patient heterogeneity in NPM1-mutated AML at single-cell resolution.Leukemia · 2025Article
- Rapid epigenomic classification of acute leukemia.Nature genetics · 2025Article
- The Chronic Lymphocytic Leukemia Epigenome: A Powerful and Stable Framework for Understanding Biological and Clinical Heterogeneity.Hematology/oncology clinics of North America · 2025Review
- Intermediately Methylated Regions in Normal Cells Are Epimutation Hotspots in Cancer.bioRxiv : the preprint server for biology · 2025Article
- Dendritic Cells of Leukemic Origin (DCCancers · 2025Article
- Epigenomic diagnosis and prognosis of Acute Myeloid Leukemia.Nature communications · 2025Article
- Epigenetic dysregulation in acute myeloid leukemia.Seminars in hematology · 2025Review
- Celebrating Ulrik Ringborg: Multi-Omics-Based Patient Stratification for Precision Cancer Treatment.Biomolecules · 2025Review
- Machine learning approaches reveal methylation signatures associated with pediatric acute myeloid leukemia recurrence.Scientific reports · 2025Article
- DNA methylation in primary myelofibrosis is partly associated with driver mutations and distinct from other myeloid malignancies.Clinical epigenetics · 2025Article
- FOXP1 is associated with oncogenesis and clinical outcomes in hematologic malignancies.Frontiers in immunology · 2025Article
- Epigenetic alterations affecting hematopoietic regulatory networks as drivers of mixed myeloid/lymphoid leukemia.Nature communications · 2024Article
Corrections and comments
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Authors and funding
20 authors at 7 institutions in 2 countries.
Funding
Abstract
Acute myeloid leukemia (AML) is a molecularly complex disease characterized by heterogeneous tumor genetic profiles and involving numerous pathogenic mechanisms and pathways. Integration of molecular data types across multiple patient cohorts may advance current genetic approaches for improved subclassification and understanding of the biology of the disease. Here, we analyzed genome-wide DNA methylation in 649 AML patients using Illumina arrays and identified a configuration of 13 subtypes (termed "epitypes") using unbiased clustering. Integration of genetic data revealed that most epitypes were associated with a certain recurrent mutation (or combination) in a majority of patients, yet other epitypes were largely independent. Epitypes showed developmental blockage at discrete stages of myeloid differentiation, revealing epitypes that retain arrested hematopoietic stem-cell-like phenotypes. Detailed analyses of DNA methylation patterns identified unique patterns of aberrant hyper- and hypomethylation among epitypes, with variable involvement of transcription factors influencing promoter, enhancer, and repressed regions. Patients in epitypes with stem-cell-like methylation features showed inferior overall survival along with up-regulated stem cell gene expression signatures. We further identified a DNA methylation signature involving STAT motifs associated with
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