Dominance of mutations in epigenetic regulators and a diversity of signaling alterations in blast-phase BCR::ABL1-negative myeloproliferative neoplasms.
(2025) American journal of hematology — Vol. 100, n° 1, p. 168-171 (2025)
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Mambet, Cristina 
Botezatu, Anca
- Abstract
- (en) 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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Citations
Gurban, P., Mambet, C., Botezatu, A., Necula, L. G., Matei, L., Neagu, A. I., Pitica, I., Ataman, M., Tatic, A., Bardas, A., Gaman, M. A., Dobrea, C., Dragomir, M., Ghimici, C., Angelescu, S., Barbu, D., Stanca, O., Danila, M., Berbec, N., et al. (2025). Dominance of mutations in epigenetic regulators and a diversity of signaling alterations in blast-phase BCR::ABL1-negative myeloproliferative neoplasms. American journal of hematology, 100(1), 168-171. https://doi.org/10.1002/ajh.27503 (Original work published 2025)