在一名对伊马替尼耐药的e19a2慢性髓性白血病患者中出现的E255K和G250E突变。
E255K and G250E mutation appearing in a patient with e19a2 chronic myeloid leukemia resistant to imatinib.
作者信息
Li Chunrui, Wang Ying, Xu Danmei, Zhang Ping, Ding Xiaoyi, Zhang Na, Xiao Min, Huang Liang, Meng Li
出版信息
Clin Lab. 2015;61(1-2):183-6. doi: 10.7754/clin.lab.2014.140818.
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 p-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.
背景
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。
方法
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。
结果
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。
结论
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。
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