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<p>We report the case of a 51-year-old male patient initially diagnosed with JAK2-V617F-mutated polycythemia vera (PV), who developed chronic phase BCR::ABL1-positive chronic myeloid leukemia (CML) 11 years later. The patient was treated with hydroxyurea and later with ruxolitinib (RUX) for PV. Following CML diagnosis, treatment with imatinib combined with RUX was initiated. Imatinib and RUX combination therapy proved to be safe and well-tolerated without major adverse events. After over one year of treatment, the patient maintained a complete cytogenetic response and a MR<sup>2</sup> molecular response. Imatinib was switched to dasatinib due to the unsatisfying molecular response achieved. This case highlights the uncommon coexistence of JAK2 mutation and BCR::ABL1 translocation and supports the feasibility and safety of combining JAK2 inhibitors and tyrosine kinase inhibitors in such scenarios.</p>

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BCR::ABL1-positive chronic myeloid leukaemia in a scenario of a remote diagnosis of JAK2-V617F-mutated polycythemia vera: a single patient experience with imatinib and ruxolitinib combination therapy

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2025年10月25日

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  • Paride Bartolucci,
  • Federica Gigli,
  • Valentina Tabanelli,
  • Arianna Valeriano,
  • Giuliana Gregato,
  • Claudia Poletti,
  • Francesco Bertolini,
  • Enrico Derenzini

摘要

We report the case of a 51-year-old male patient initially diagnosed with JAK2-V617F-mutated polycythemia vera (PV), who developed chronic phase BCR::ABL1-positive chronic myeloid leukemia (CML) 11 years later. The patient was treated with hydroxyurea and later with ruxolitinib (RUX) for PV. Following CML diagnosis, treatment with imatinib combined with RUX was initiated. Imatinib and RUX combination therapy proved to be safe and well-tolerated without major adverse events. After over one year of treatment, the patient maintained a complete cytogenetic response and a MR2 molecular response. Imatinib was switched to dasatinib due to the unsatisfying molecular response achieved. This case highlights the uncommon coexistence of JAK2 mutation and BCR::ABL1 translocation and supports the feasibility and safety of combining JAK2 inhibitors and tyrosine kinase inhibitors in such scenarios.