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

ABSTRACT:

Background

Primary 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.

Results

When 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 themsel

SUBMITTER: Dursun Torlak E 

PROVIDER: S-EPMC12048995 | biostudies-literature | 2025 May

REPOSITORIES: biostudies-literature