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December 8, 2025BloodOpen Access

Mutational architecture and clonal heterogeneity in myelofibrosis: Prognostic role of variant type and acquisition sequence

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Authors

PGPaola Guglielmelli

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Overview

Analysis reveals somatic mutations significantly impact clinical phenotype and survival in myelofibrosis, suggesting mutation timing may influence outcomes.

Key Points

  • This research investigates how somatic mutations and their acquisition order affect clinical outcomes in myelofibrosis.
  • Analyzed 756 myelofibrosis patients using NGS with a 40-gene panel.
  • Classified mutations into functional categories and assessed variant allele frequency.
  • Correlated mutation types with overall survival and blast phase using statistical analysis.
  • Somatic mutations significantly associated with shorter overall survival included TET2, SRSF2, and ASXL1.
  • Acquisition order of mutations showed distinct effects on patient survival.
  • Epigenetic mutations often occurred before driver mutations, influencing clinical phenotype.

Cite This Study

Paola Guglielmelli (2025) studied this question.

synapsesocial.com/papers/693624d74fa91c937236d0cfhttps://doi.org/10.1182/blood-2025-3760
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Also Consider

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  1. 1Clonal architecture inferred from routine NGS data predicts outcome and response to JAK-inhibitors in myelofibrosis2025
  2. 2Broad Next-Generation Integrated Sequencing of Myelofibrosis Identifies Disease-Specific and Age-Related Genomic Alterations2024 · 11 citations
  3. 3Data from Broad Next-Generation Integrated Sequencing of Myelofibrosis Identifies Disease-Specific and Age-Related Genomic Alterations2024
  4. 4Clonal persistence and early cooperative mutations shape transformation in myelofibrosis2025
  5. 5Longitudinal genomic and cytogenetic dynamics in myelodysplastic syndromes (MDS): Insights into clonal evolution and disease progression2025