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December 8, 2025BloodOpen Access

Clonal persistence and early cooperative mutations shape transformation in myelofibrosis

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Authors

CFChristopher FamulareGLGiuseppe Gaetano LoscoccoADAndriy Derkach

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Overview

Analysis reveals somatic mutations and copy number variations linked to transformation in myelofibrosis.

Key Points

  • This research aims to define the genomic and clonal drivers of transformation in myelofibrosis.
  • Profiled 186 samples from 160 individuals with MPN-AP/BP and chronic-phase MPN.
  • Used targeted sequencing of a 588 gene panel to detect mutations and structural alterations.
  • Analyzed paired pre- and post-transformation samples for longitudinal insights.
  • 99% of patients had at least one oncogenic mutation, median of four mutations per patient.
  • Identified significant mutations in JAK2, ASXL1, TET2, SRSF2, TP53, and RUNX1.
  • Co-mutations associated with higher transformation risk were identified within malignancy-driving clones.

Cite This Study

Famulare et al. (2025) studied this question.

synapsesocial.com/papers/69362f4b4fa91c937236d79ahttps://doi.org/10.1182/blood-2025-2046
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Also Consider

Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

  1. 1Genetic evolution of myeloproliferative neoplasms from chronic phase to blastic phase: An analysis of 46 paired samples.2025 · 6 citations
  2. 2MPN Transformation Is Characterized By Heterogeneous Shifts In Lineage Character Resulting In Both HSC-Like And More Differentiated Lineage Signatures2025
  3. 3MPN Transformation Is Characterized By Heterogeneous Shifts In Lineage Character Resulting In Both HSC-Like And More Differentiated Lineage Signatures2024 · 1 citations
  4. 4Longitudinal genomic and cytogenetic dynamics in myelodysplastic syndromes (MDS): Insights into clonal evolution and disease progression2025
  5. 5Clonal Metamorphosis: Deconstructing MPN Evolution with Single-Cell and Spatial Multi-Omics2026