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June 13, 2026Annals of HematologyOpen Access

NGS and emerging molecular scenarios in chronic myeloproliferative neoplasms: a case of double mutated polycythemia vera

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Authors

ECElisabetta CerchiaraACAntonio CristianoFVFederico Vozella

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Overview

Randomized trial shows altered disease phenotype in myeloproliferative neoplasms, indicating the importance of comprehensive genetic testing.

Key Points

  • To investigate the presence of double mutations in polycythemia vera and their impact on disease evolution and diagnosis.
  • Performed NGS analysis on a 71-year-old man with JAK2-positive polycythemia vera.
  • Conducted a retrospective analysis of clonal dynamics and histopathological evaluation.
  • Assessed hematologic parameters under hydroxycarbamide treatment for disease progression.
  • NGS revealed CALR mutation alongside non-driver DNMT3A variants, with low VAF JAK2 clone below detection limit.
  • Dynamic clonal competition was observed between dominant CALR clone and minor JAK2 clone.
  • Histopathological findings consistent with polycythemia vera confirmed the integrated diagnosis of MPN-NOS.

Cite This Study

Cerchiara et al. (2026) studied this question.

synapsesocial.com/papers/6a2cf36efaef96ed7f055f9dhttps://doi.org/10.1007/s00277-026-07099-6
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Also Consider

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

  1. 1Low JAK2 V617F Allele Burden in Ph-Negative Chronic Myeloproliferative Neoplasms Is Associated with Additional CALR or MPL Gene Mutations2021 · 7 citations
  2. 2CALR versus JAK 2 mutated essential thrombocythaemia – a report on 141 patients2014 · 19 citations
  3. 3JAK2 or CALR mutation status defines subtypes of essential thrombocythemia with substantially different clinical course and outcomes2013 · 577 citations
  4. 4Presence of calreticulin mutations in JAK2-negative polycythemia vera2014 · 95 citations
  5. 5Clonal evolution and clinical correlates of somatic mutations in myeloproliferative neoplasms2014 · 652 citations