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The JAK2V617F activating mutation occurs in chronic myelomonocytic leukemia and acute myeloid leukemia, but not in acute lymphoblastic leukemia or chronic lymphocytic leukemia

Ross L. Levine, Marc Loriaux, Brian J. P. Huntly, Mignon L. Loh, Miroslav Beran, Eric Stoffregen, Roland Berger, Jennifer J. Clark, Stephanie G. Willis, Kim T. Nguyen, Nikki J. Flores, Elihu Estey, Norbert Gattermann, Scott Armstrong, A. Thomas Look, James D. Griffin, Olivier A. Bernard, Michael C. Heinrich, D. Gary Gilliland, Brian Druker and Michael W. N. Deininger

Article Figures & Data

Tables

  • Table 1.

    Mutational status by disease

    DiseaseJAK2V617FTotal% JAK2V617F
    De novo AML* 1 219 0.5
    MDS 2 48 4.2
    CMML/aCML 9 116 7.8
    B-cell ALL 0 83 0
    T-cell ALL 0 93 0
    CLL 0 45 0
    • * Three additional patients with AML and JAK2V617F mutations had a preceding MPD.

  • Table 2.

    CMML/aCML; JAK2V617F positive cohort

    PatientSexAge, yWBC count, × 109/LPlt count, × 109/LHb, g/LKaryotypeSplenomegalyDiagnosisProgression to AMLRas mutationTreatmentSurvival, mo
    1 F 65 53.9 46 133 Diploid Yes CMML Yes No Hydrea, 9NC, oral topotecan 62
    2 M 55 30.4 51 134 Diploid Yes CMML No NRAS codon 12 Topotecan/Ara-C, Allo-SCT 75+
    3 M 70 48.0 15 63 Diploid Yes CMML No KRAS codon 13 Daunorubicin, Ara-C, thalidomide 0.2
    4 M 54 37.1 22 108 Diploid Yes CMML No No FTI 57
    5 F 71 24.9 272 155 Diploid No CMML No No Hydrea 36+
    6 M 74 4.6 177 127 Diploid No CMML No No eloposide, skin XRT 27+
    7 M 47 NA NA NA Diploid, trisomy 8 at transformation to AML Yes aCML Yes No Hydrea, IFN, Allo-SCT 60+
    8 M 79 6.9 99 135 Diploid Yes CMML Yes No None 33+
    • WBC indicates white blood cell; Plt, platelet; Hb, hemoglobin; 9NC, 9-nitrocamptothecin; Ara-C, arabinosyl cytosine; Allo-SCT, allogeneic stem cell transplantation; FTI, farnesyl transferase inhibitors; XRT, radiotherapy; NA, not available; and IFN, interferon.