1. JAK2V617F mutation persists in blasts and mature cells of transformed- JAK2V617F-positive-myeloproliferative neoplasia: a European Leukemia Net (ENL) study
- Author
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Tiziano Barbui, Luigi Gugliotta, Anna Candoni, Giorgia Battipaglia, Paola Rinaldi, Francesco Grimaldi, Giorgina Specchia, Luigi Del Vecchio, Marica Gemei, Ciro R. Rinaldi, Alessandro M. Vannucchi, Fabrizio Pane, Bruno Martino, Hematology and CEINGE, Università degli studi di Napoli Federico II, Hematology, Ospedale di Reggio Calabria, Università degli studi di Bari Aldo Moro (UNIBA), Università degli Studi di Udine - University of Udine [Italie], Ospedale di Reggio Emilia, Università degli Studi di Firenze = University of Florence [Firenze] (UNIFI), Ospedali Riuniti, Rinaldi, Cr, Rinaldi, P, Gemei, M, Grimaldi, F, Battipaglia, G, Del Vecchio, L, Martino, B, Specchia, G, Candoni, A, Gugliotta, L, Vannucchi, Am, Barbui, T, and Pane, Fabrizio
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Adult ,Male ,medicine.medical_specialty ,Bone Marrow Cells ,medicine.disease_cause ,Cohort Studies ,03 medical and health sciences ,0302 clinical medicine ,Myeloproliferative Disorders ,Internal medicine ,hemic and lymphatic diseases ,medicine ,Humans ,Granulocyte Precursor Cells ,Aged ,Aged, 80 and over ,Janus kinase 2 ,Hematology ,biology ,Myeloid leukemia ,food and beverages ,Janus Kinase 2 ,Middle Aged ,medicine.disease ,Flow Cytometry ,3. Good health ,Europe ,Leukemia ,Leukemia, Myeloid, Acute ,medicine.anatomical_structure ,Cell Transformation, Neoplastic ,030220 oncology & carcinogenesis ,Immunology ,Mutation ,biology.protein ,Cancer research ,Medicine ,Female ,Bone marrow ,Carcinogenesis ,030215 immunology - Abstract
International audience; Transformation to acute myeloid leukemia (AML) is a known complication of myeloproliferative neoplasia (MPN). Recent studies reported the high incidence (53%) of JAK2 negative blasts from transformed JAK2V617F-MPN. We collected, by cell sorting, blast cells and mature cells (GRA) from total bone marrow (BM) of 34 patients newly diagnosed of secondary AML. At MPN diagnosis (PMF n = 18; PV n = 9; ET n = 7), JAK2 was mutated in 22 of 34 patients. Twenty of 22 JAK2V617F-MPN (91%) maintained the mutation in blasts and GRA after leukemic switch, while in 2 of 22 patients the selected compartments lost the mutation. Surprisingly we also found the first case of JAK2V617F-AML from a wild type (WT)-MPN. In contrast to the previous study, we conclude that JAK2V617F-MPN yields rarely (9%) a JAK2WT-AML and any JAK2-status modification/persistence involves always the entire BM during leukemic transformation.
- Published
- 2010
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