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E255K and G250E Mutation Appearing in a Patient with e19a2 Chronic Myeloid Leukemia Resistant to Imatinib by Chunrui Li, Ying Wang, Danmei Xu, Ping Zhang, Xiaoyi Ding, Na Zhang, Min Xiao, Liang Huang, Li Meng

Background: Chronic myeloid leukemia (CML) with the e19a2 transcript coding for p230 is a rare disease. ABL1 kinase domain mutations in CML with the e19a2 rearrangement were seldom reported.
Methods: The clinical characteristics of a 45-year-old Chinese female CML patient with e19a2 BCR/ABL1 transcript were described. The mutation on the ABL gene exons was determined by sequencing the cDNA of the μ-BCR-ABL fusion product.
Results: This patient developed an acquired resistance associated with two μ-BCR/ABL1 mutations (E255K and G250E) during treatment with imatinib.
Conclusions: Here, we report a CML patient with e19a2 transcripts, carrying E255K and G250E mutation and experience of nilotinib treatment. The μ-BCR/ABL1 mutation should be investigated after imatinib treatment failure.

DOI: 10.7754/Clin.Lab.2014.140818