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 p-BCR-ABL fusion product. Results: This patient developed an acquired resistance associated with two 1i-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 p-BCR/ABL1 mutation should be investigated after imatinib treatment failure.
基金：
National Natural Science Foundation of ChinaNational Natural Science Foundation of China (NSFC) [81270600, 81272422]
第一作者单位：[1]Huazhong Univ Sci & Technol, Tongji Hosp, Tongji Med Coll, Dept Hematol, Wuhan 430030, Hubei, Peoples R China
通讯作者：
通讯机构：[1]Huazhong Univ Sci & Technol, Tongji Hosp, Tongji Med Coll, Dept Hematol, Wuhan 430030, Hubei, Peoples R China[*1]Huazhong Univ Sci & Technol, Tongji Hosp, Tongji Med Coll, Dept Hematol, 1095 Jie Fang Ave, Wuhan 430030, Hubei, Peoples R China
推荐引用方式(GB/T 7714)：
Li Chunrui,Wang Ying,Xu Danmei,et al.E255K and G250E Mutation Appearing in a Patient with e19a2 Chronic Myeloid Leukemia Resistant to Imatinib[J].CLINICAL LABORATORY.2015,61(1-2):183-186.doi:10.7754/Clin.Lab.2014.140818.
APA：
Li,Chunrui,Wang,Ying,Xu,Danmei,Zhang,Ping,Ding,Xiaoyi...&Meng,Li.(2015).E255K and G250E Mutation Appearing in a Patient with e19a2 Chronic Myeloid Leukemia Resistant to Imatinib.CLINICAL LABORATORY,61,(1-2)
MLA：
Li,Chunrui,et al."E255K and G250E Mutation Appearing in a Patient with e19a2 Chronic Myeloid Leukemia Resistant to Imatinib".CLINICAL LABORATORY 61..1-2(2015):183-186
