JAK2V617F mutation persists in blasts and mature cells of transformed JAK2V617F-positive-myeloproliferative neoplasia: a European Leukemia Net (ENL) study

Rinaldi, Ciro and Rinaldi, Paola and Gemei, Marica and Grimaldi, Francesco and Battipaglia, Giorgia and Del Vecchio, Luigi and Martino, Bruno and Specchia, Giorgina and Candoni, Anna and Gugliotta, Luigi and Vannucchi, Alessandro M and Barbui, Tiziano and Pane, Fabrizio (2010) JAK2V617F mutation persists in blasts and mature cells of transformed JAK2V617F-positive-myeloproliferative neoplasia: a European Leukemia Net (ENL) study. American Journal of Hematology, 85 (5). pp. 383-386. ISSN 0361-8609

Full content URL: http://onlinelibrary.wiley.com/doi/10.1002/ajh.216...

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Abstract

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

Keywords:secondary Leukemia, JAK2, MPN
Subjects:A Medicine and Dentistry > A300 Clinical Medicine
Divisions:College of Science > School of Life Sciences
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ID Code:12415
Deposited On:30 Oct 2013 15:34

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