E355G mutation appearing in a patient with e19a2 chronic myeloid leukaemia resistant to imatinib

摘要

The development of imatinib is a milestone in the treatment of chronic myeloid leukaemia (CML), and its therapeutic effect has been extensively investigated in patients with CML who carry M-bcr and m-bcr BCH-ABL fusion transcripts. However, knowledge about its therapeutic effect on patients with CML who have the rare BCH-ABL fusion transcript e19a2 (μ-bcr) remains sparse. This report describes a patient with Philadelphia-positive chronic myeloid leukaemia with e19a2 rearrangement, in whom E355G mutation had been acquired. The patient was resistant to imatinib treatment based on conventional cytogenetic and fluorescence in situ hybridisation analysis.