Chronic myeloid leukemia with variant e13a3 (b2a3) <i>BCR-ABL1</i> as an ABL1 tyrosine kinase inhibitor-sensitive subtype
Chronic myeloid leukemia with variant e13a3 (b2a3) <i>BCR-ABL1</i> as an ABL1 tyrosine kinase inhibitor-sensitive subtype
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慢性粒细胞白血病变异 e13a3 (b2a3) <i>BCR-ABL1</i> 作为 ABL1 酪氨酸激酶抑制剂敏感亚型
DOI：
10.11406/rinketsu.62.180
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发表时间：
2021
期刊：
影响因子：
--
通讯作者：
小島 研介
中科院分区：
文献类型：
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作者：
砥谷 和人;朝霧 正;上岡 樹生;小島 研介
我们报告一例26岁男性慢性粒细胞白血病慢性期患者，伴有bcr-abl1融合的e13a3(B2a3)变异。尽管存在Philadelphia染色体和荧光原位杂交可检测到的BCR-ABL1融合信号，但使用ABL1外显子2上的反向引物定量测定ABL1上的BCR-ABL1未能检测到融合转录本。用bcr基因外显子13的正义引物和abl1基因外显子3的反义引物进行PCR直接测序分析，发现bcr-abl1融合基因的e13a3变异体。利用BCR外显子13和ABL1外显子3的正向引物和探针，用TaqMan方法成功地监测了突变融合转录本的水平。患者对伊马替尼治疗的反应非常好，类似于之前报道的e13a3病例。经过12个月的治疗，患者获得了分子应答(未检测到e13a3转录本)。
We report the case of a 26-year-old male patient with chronic myelogenous leukemia in the chronic phase with the e13a3 (b2a3) variant of BCR-ABL1 fusion. Despite the presence of Philadelphia chromosome and fluorescence in situ hybridization-detectable BCR-ABL1 fusion signals, quantitative measurement of BCR-ABL1 on the ABL1 using a reverse primer in exon 2 of ABL1 failed to detect the fusion transcripts. PCR direct sequencing analysis with a sense primer for exon 13 of BCR and an antisense primer for exon 3 of ABL1 revealed the e13a3 variant of BCR-ABL1 fusion. The variant fusion transcript level was successfully monitored by the TaqMan assay using a forward primer and probe both in exon 13 of BCR and a reverse primer in exon 3 of ABL1. The patient responded extremely well to imatinib treatment, similar to previously reported e13a3 cases. The patient achieved a molecular response (undetectable e13a3 transcripts) after 12 months of treatment.