Evidence mapPaperPMID 40319310Full record

ArticleClinical epigenetics2025

DNA methylation in primary myelofibrosis is partly associated with driver mutations and distinct from other myeloid malignancies.

Esra Dursun Torlak, Vithurithra Tharmapalan, Kim Kricheldorf, Joelle Schifflers, Madeline Caduc, Martin Zenke, Steffen Koschmieder, Wolfgang Wagner

Abstract read
In one paragraph

Article in Clinical epigenetics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
field-weighted citation impact
1 · What the graph read from it

What it found

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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

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Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

1 citing paper in PubMed.

  1. Epigenetic networks coordinate DNA methylation across the genome.Molecular therapy : the journal of the American Society of Gene Therapy · 2025
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4 · The record

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5 · Who and what money

Authors and funding

8 authors.

Esra Dursun TorlakInstitute for Stem Cell Biology, RWTH Aachen University Medical School, 52074, Aachen, Germany.
Vithurithra TharmapalanInstitute for Stem Cell Biology, RWTH Aachen University Medical School, 52074, Aachen, Germany.
Kim KricheldorfDepartment of Hematology, Oncology, Hemostaseology and Stem Cell Transplantation, Medical Faculty of RWTH Aachen University, University Hospital Aachen, 52074, Aachen, Germany.
Joelle SchifflersDepartment of Hematology, Oncology, Hemostaseology and Stem Cell Transplantation, Medical Faculty of RWTH Aachen University, University Hospital Aachen, 52074, Aachen, Germany.
Madeline CaducDepartment of Hematology, Oncology, Hemostaseology and Stem Cell Transplantation, Medical Faculty of RWTH Aachen University, University Hospital Aachen, 52074, Aachen, Germany.
Martin ZenkeHelmholtz-Institute for Biomedical Engineering, RWTH Aachen University Medical School, 52074, Aachen, Germany.
Steffen KoschmiederDepartment of Hematology, Oncology, Hemostaseology and Stem Cell Transplantation, Medical Faculty of RWTH Aachen University, University Hospital Aachen, 52074, Aachen, Germany.
Wolfgang WagnerInstitute for Stem Cell Biology, RWTH Aachen University Medical School, 52074, Aachen, Germany. wwagner@ukaachen.de.

Funding

Deutsche Forschungsgemeinschaft CRU344/417911533Deutsche Forschungsgemeinschaft ZE 432/10-1Else Kröner-Fresenius-Stiftung ForTra (PrickMe)
6 · The paper itself

Abstract

backgroundPrimary myelofibrosis (PMF) is a clonal blood disorder characterized by mutually exclusive driver mutations in JAK2, CALR, or MPL genes. So far, it is largely unclear if the driver mutations have a specific impact on DNA methylation (DNAm) profiles and how epigenetic alterations in PMF are related to other myeloid malignancies.

resultsWhen we compared DNAm profiles from PMF patients we found very similar epigenetic modifications in JAK2 and CALR mutated cases, whereas MPL mutations displayed less pronounced and distinct patterns. Furthermore, induced pluripotent stem cell (iPSC) models with JAK2 mutations indicated only a moderate association with PMF-related epigenetic changes, suggesting that these alterations may not be directly driven by the mutations themselves. Additionally, PMF-associated epigenetic changes showed minimal correlation with allele burden and seemed to be largely influenced by shifts in the cellular composition. PMF DNAm profiles compared with those from other myeloid malignancies-such as acute myeloid leukemia, juvenile myelomonocytic leukemia, and myelodysplastic syndrome-showed numerous overlapping changes, making it difficult to distinguish PMF based on individual CpGs. However, a PMF score created by combining five CpGs was able to discern PMF from other diseases.

conclusionThese findings demonstrate that PMF driver mutations do not directly evoke epigenetic changes. While PMF shares epigenetic alterations with other myeloid malignancies, DNA methylation patterns can distinguish between PMF and related diseases.

Indexed as

DNA MethylationPrimary MyelofibrosisAdultAgedAged, 80 and overCalreticulinCpG IslandsEpigenesis, GeneticFemaleHumansJanus Kinase 2MaleMiddle AgedMutationReceptors, ThrombopoietinCalreticulinCALR protein, humanJAK2 protein, humanJanus Kinase 2MPL protein, humanReceptors, ThrombopoietinAMLCpGDNA methylationEpigeneticJMMLMDSMPNMyeloid malignanciesPrimary myelofibrosis

Identifiers

PMID40319310
PMCPMC12048995

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the Socratic graph.