ArticleCancer research2013
Methylome profiling reveals distinct alterations in phenotypic and mutational subgroups of myeloproliferative neoplasms.
Article in Cancer research, 2013. 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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The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
34 citing papers in PubMed, 1 synthesis or guideline pooled it, 60 citations in OpenAlex.
- HSC commitment-associated epigenetic signature is prognostic in acute myeloid leukemia.The Journal of clinical investigation · 2014Pooled it
- A multicenter phase 2 clinical trial of low-dose subcutaneous decitabine in myelofibrosis.Blood advances · 2024Trial
- Genome-wide profiling identifies a DNA methylation signature that associates with TET2 mutations in diffuse large B-cell lymphoma.Haematologica · 2013Trial
- The Role and Impact of Non-driver Gene Mutations in Myelofibrosis.Current hematologic malignancy reports · 2026Review
- DNA methylation in primary myelofibrosis is partly associated with driver mutations and distinct from other myeloid malignancies.Clinical epigenetics · 2025Article
- DNA Methylation in Ph-Negative Myeloproliferative Neoplasms: Prognostic Role and Therapeutic Implications.Current issues in molecular biology · 2025Review
- Epigenetics in myeloproliferative neoplasms.Frontiers in oncology · 2023Review
- TRAF6 functions as a tumor suppressor in myeloid malignancies by directly targeting MYC oncogenic activity.Cell stem cell · 2022Article
- The Prognostic Role of Cytogenetics Analysis in Philadelphia Negative Myeloproliferative Neoplasms.Medicina (Kaunas, Lithuania) · 2021Review
- Hydroxycarbamide effects on DNA methylation and gene expression in myeloproliferative neoplasms.Genome research · 2021Article
- The Prevalence ofCancers · 2021Review
- Epigenetic Dysregulation of Myeloproliferative Neoplasms.Hematology/oncology clinics of North America · 2021Review
- Genome-wide DNA methylation profiling is able to identify prefibrotic PMF cases at risk for progression to myelofibrosis.Clinical epigenetics · 2021Article
- Cytokine-Regulated Phosphorylation and Activation of TET2 by JAK2 in Hematopoiesis.Cancer discovery · 2019Article
- Decitabine combined with all-trans retinoic acid as treatment in a case of primary myelofibrosis transforming into acute myeloid leukaemia.The Journal of international medical research · 2019Article
- Pharmacotherapy of Myelofibrosis.Drugs · 2017Review
- Epigenetic changes in myelofibrosis: Distinct methylation changes in the myeloid compartments and in cases with ASXL1 mutations.Scientific reports · 2017Article
- Review
- Developmental Therapeutics in Myeloproliferative Neoplasms.Clinical lymphoma, myeloma & leukemia · 2017Review
- Effective treatment of low-dose decitabine in myelodysplastic syndrome/myeloproliferative neoplasms.OncoTargets and therapy · 2017Article
Corrections and comments
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Authors and funding
18 authors at 5 institutions in 1 country.
Funding
Abstract
Even though mutations in epigenetic regulators frequently occur in myeloproliferative neoplasms, their effects on the epigenome have not been well studied. Furthermore, even though primary myelofibrosis (PMF) has a markedly worse prognosis than essential thrombocytosis or polycythemia vera, the molecular distinctions between these subgroups are not well elucidated. We conducted the HELP (HpaII tiny fragment enriched by LM-PCR) assay to study genome-wide methylation in polycythemia vera, essential thrombocytosis, and PMF samples compared with healthy controls. We determined that polycythemia vera and essential thrombocytosis are characterized by aberrant promoter hypermethylation, whereas PMF is an epigenetically distinct subgroup characterized by both aberrant hyper- and hypomethylation. Aberrant hypomethylation in PMF was seen to occur in non-CpG island loci, showing further qualitative differences between the disease subgroups. The differentially methylated genes in polycythemia vera and essential thrombocytosis were involved predominantly in cell signaling pathways and were enriched for binding sites of GATA1 and other transcription factors. In contrast, aberrantly methylated genes in PMF were involved in inflammatory pathways and were enriched for NF1, LEF1, and other transcription factors. Within the PMF subgroup, cases with ASXL1 disruptions formed an epigenetically distinct subgroup with relatively increased methylation. Cases of myeloproliferative neoplasms (MPN) with TET2 mutations showed decreased levels of hydroxymethylation and distinct set of hypermethylated genes. In contrast, the JAK2V617F mutation did not drive epigenetic clustering within MPNs. Finally, the significance of aberrant methylation was shown by sensitivity of MPN-derived cell lines to decitabine. These results show epigenetic differences between PMF and polycythemia vera/essential thrombocytosis and reveal methylomic signatures of ASXL1 and TET2 mutations.
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