Concomitant occurrence of BCR-ABL and JAK2V617F mutation.

摘要

In a recent issue of the journal, Makishima et al reported on the occurrence of mutations typically associated with Philadelphia-chromosome (Ph~1) negative myeloproliferative (MPN)/ myelodys-plastic neoplasms in 54 patients with typical chronic myelogenous leukemia (CML) in chronic (CP), accelerated (AP) and blast (BP) phase. Mutations in TET2, CBL, ASXL1 or IDH1 were observed in 14% of AP and 40% of BP patients. No CP patient harbored mutation additional to BCR/ABL, including the most common JAK2V617F mutation. However, several isolated cases of concomitant JAK2V617F mutation and BCR-ABL rearrangement have been reported in the literature.