Dominance of mutations in epigenetic regulators and a diversity of signaling alterations in blast‐phase BCR::ABL1 ‐negative myeloproliferative neoplasms

Le résumé fourni par la source

TO THE EDITOR : BCR::ABL1-negative myeloproliferative neoplasms (MPNs) can evolve to secondary acute myeloid leukemia (sAML) or blast-phase (BP) MPN, a very severe condition with lack of effective therapy.1 Leukemic transformation (LT) of MPNs displays a variable incidence according to MPN phenotype: 9%–13% in primary myelofibrosis (PMF), 3%–7% in polycythemia vera (PV), and 1%–4% in essential thrombocythemia (ET).1 Here, we investigated the mutational landscape, copy number variations (CNVs), and uniparental disomy (UPD) events in BP-MPN cases that were diagnosed over a 6-year period of monitoring in three different hematology units (Fundeni Clinical Institute, Coltea Hospital and Emergency University Hospitals, Bucharest, Romania) and the patterns of clonal evolution in a subset of patients with available paired chronic phase (CP)-BP DNA samples. [...]

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