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December 8, 2025BloodOpen Access

Longitudinal genomic shifts associated with disease transformation in patients with polycythemia vera (PV) enrolled in REVEAL

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Authors

MGMichael R. Grunwald

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Overview

Longitudinal analysis reveals molecular markers associated with transformation to myelofibrosis in polycythemia vera patients.

Key Points

  • The study aims to investigate genomic shifts associated with disease transformation in polycythemia vera patients.
  • Longitudinal analysis using whole exome sequencing of samples before and after myelofibrosis transformation.
  • Biospecimens collected from patients enrolled in the REVEAL trial and retrospectively analyzed.
  • JAK2V617F variant allelic fractions were measured pre- and post-transformation.
  • 41 patients with transformed myelofibrosis were analyzed, all JAK2V617F positive at enrollment.
  • Copy neutral loss of heterozygosity at chr9p observed in 85% of patients during enrollment.
  • Distinct patterns in JAK2V617F variations noted, including increases and decreases in variant allelic fraction.

Cite This Study

Michael R. Grunwald (2025) studied this question.

synapsesocial.com/papers/693624d74fa91c937236d124https://doi.org/10.1182/blood-2025-3749
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Also Consider

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

  1. 1Clonal persistence and early cooperative mutations shape transformation in myelofibrosis2025
  2. 2Digital PCR-based dynamic monitoring of JAK2V617F burden: A decade-long study unravels its prognostic value in MPN treatment response2025
  3. 3Risk factors for progressive kidney impairment among patients with polycythemia vera (PV) are recapitulated and treatable in mouse models of PV2025
  4. 4Allele burden expansion in JAK2 V617F and CALR ‐mutated myeloproliferative neoplasms predicts disease progression and is associated with anagrelide treatment2026
  5. 5Comprehensive High-Sensitivity Mutation Profiling in MPNs: Diagnostic and Prognostic Implications2026