A New Mutation Identified in an Imatinib and Nilotinib Resistant Chronic Myeloid Leukemia Patient

Abstract

Chronic myeloid leukemia (CML) is a heterogeneous disease induced by BCR-ABL oncogene. Since the emergence of Tyrosine kinase inhibitors(TKIs), treatment of CML has been drastically changed. However, resistance and intolerance of TKIs have frequently been reported, especially in advanced-stage patients. The most critical reason for TKIs resistance is point mutations within the ABL1 kinase domain that interfere the binding of ABL1 with TKIs. The types and frequencies of mutations have been reported in different population. In this study, we identified a new mutation A2387G (N796S) within the BCR domain (exon 10) via next generation exon sequencing in an imatinib and nilotinib resistant CML patient.