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

Ciro Roberto Rinaldi (1) , Paola Rinaldi (2) , Marica Gemei (2) , Francesco Grimaldi (2) , Giorgia Battipaglia (2) , Luigi del Vecchio (2) , Bruno Martino (3) , Giorgina Specchia (4) , Anna Candoni (5) , Luigi Gugliotta (6) , Alessandro Maria Vannucchi (7) , Tiziano Barbui (8) , Fabrizio Pane (2)

1 Hematology and CEINGE
2 Hematology
3 Hematology
4 Hematology
5 Hematology
6 Hematology
7 Hematology
8 Hematology

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.

Mots clés: Medicine

Ciro Roberto Rinaldi, Paola Rinaldi, Marica Gemei, Francesco Grimaldi, Giorgia Battipaglia, et al.. JAK2V617F mutation persists in blasts and mature cells of transformed- JAK2V617F-positive-myeloproliferative neoplasia: a European Leukemia Net (ENL) study.. American Journal of Hematology, 2010, ⟨10.1002/ajh.21687⟩. ⟨hal-00552311⟩