Li Chunrui, Wang Ying, Xu Danmei, Zhang Ping, Ding Xiaoyi, Zhang Na, Xiao Min, Huang Liang, Meng Li
Clin Lab. 2015;61(1-2):183-6. doi: 10.7754/clin.lab.2014.140818.
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.
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.
This patient developed an acquired resistance associated with two p-BCR/ABL1 mutations (E255K and G250E) during treatment with imatinib.
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.
编码p230的e19a2转录本的慢性髓性白血病（CML）是一种罕见疾病。很少有关于具有e19a2重排的CML中ABL1激酶结构域突变的报道。
描述了一名45岁携带e19a2 BCR/ABL1转录本的中国女性CML患者的临床特征。通过对μ-BCR-ABL融合产物的cDNA进行测序来确定ABL基因外显子上的突变。
该患者在伊马替尼治疗期间出现了与两个p-BCR/ABL1突变（E255K和G250E）相关的获得性耐药。
在此，我们报告了一名携带e19a2转录本、E255K和G250E突变的CML患者以及尼洛替尼治疗经验。在伊马替尼治疗失败后应检测μ-BCR/ABL1突变。
