Case reveals transformation from polycythemia vera to myelofibrosis and acute myeloid leukemia, suggesting implications for treatment options.
Transformation of polycythemia vera (PV) into post-polycythemic myelofibrosis (MF) and subsequently acute myeloid leukemia (AML) represents one of the most aggressive trajectories among myeloproliferative neoplasms (MPNs). Post-MPN AML carries a median survival of approximately six months, particularly among older adults with adverse cytogenetics. We report the case of a 73-year-old man with JAK2-positive PV diagnosed in 2020 who progressed to MF in 2024 and developed AML later that year. Cytogenetic analysis revealed a KMT2A (11q23) rearrangement with KMT2A::ELL fusion, a finding rarely described in secondary AML arising from MPNs. Due to advanced age, transfusion dependence, and significant cardiovascular comorbidities, the patient was not a candidate for intensive chemotherapy or hematopoietic stem cell transplantation. He was initially treated with azacitidine and venetoclax but demonstrated disease progression. In the setting of a KMT2A::ELL fusion, therapy was transitioned to the menin inhibitor revumenib, resulting in short-term clinical stability and tolerability under continued supportive care.
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Ahmad et al. (2026) studied this question.
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