• J Hematol Oncol · Sep 2013

    Letter Case Reports

    Leukemic transformation driven by an ASXL1 mutation after a JAK2V617F-positive primary myelofibrosis: clonal evolution and hierarchy revealed by next-generation sequencing.

    • Francisca Ferrer-Marín, Beatriz Bellosillo, Luz Martínez-Avilés, Gloria Soler, Pablo Carbonell, Ginés Luengo-Gil, Eva Caparrós, José M Torregrosa, Carlos Besses, and Vicente Vicente.
    • Hematology and Medical Oncology Unit, Hospital Universitario Morales-Meseguer, Centro Regional de Hemodonación, C/Ronda de Garay, sn, 3003, Murcia, Spain. fferrermarin@gmail.com.
    • J Hematol Oncol. 2013 Sep 8; 6: 68.

    AbstractWe have characterized the molecular changes underlying the transformation of a JAK2V617F+-myelofibrosis with trisomy 8, into a JAK2V617F-negative leukemia. Leukemic clone did not carry JAK2V617F mutation, but showed ASXL1 mutation (R693X). This mutation was identified in a low percentage at diagnosis by next-generation sequencing. Using this technology in serial specimens during the follow-up, we observed a progressive expansion of the ASXL1-mutated minor clone, whereas the JAK2V617F+-clone carrying trisomy 8 decreased. Hematologic progression occurred simultaneously with an ASXL1-R693X-negative lung-cancer. This is the first report showing a clear association between the expansion of an ASXL1-mutated clone and the leukemic transformation of myelofibrosis.

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