慢性粒细胞白血病BCR-ABL融合类型的研究及其临床意义
Types of BCR-ABL fusion gene in chronic myeloid leukemia and its clinical significance
谷红丽 1王进 2秦正红 2张日1
作者信息
- 1. 苏州大学附属第一医院血液科,江苏苏州215006
- 2. 苏州大学神经与衰老疾病实验室,江苏苏州215123
- 折叠
摘要
目的 研究不同类型的BCR-ABL融合基因在慢性粒细胞白血病(CML)患者中所占比例及其与治疗效果和预后的关系.方法 采用RT-PCR方法检测46例CML患者BCR-ABL融合基因的类型,并用巢式PCR方法扩增伊马替尼耐药患者的Abl激酶区约864bp碱基片段,对扩增产物进行纯化、双向测序并分析.结果 46例CML患者中,M-BCR占33例,其中b3a2型19例,b2a2型6例,而b3a2/b2a2共表达者8例.一些少见类型如e20a2、b2a2/e20a2及b3a2/e20a2占的比例较低.随访6例伴Abl激酶区突变的伊马替尼耐药CML患者中,b3a2/b2a2型4例.结论 典型CML患者的BCR/ABL融合基因类型以M-BCR占绝大多数,另外也可见一些其他类型；而伊马替尼耐药并检测出Abl激酶区点突变的患者中BCR/ABL融合基因类型以b3a2/b2a2居多.
Abstract
Objective To detect the ratio of different types of BCR-ABL fusion gene in chronic myeloid leukemia (CML) and its relationship with therapy effect and prognosis. Methods We detected different types of BCR-ABL fusion gene by reverse transcript-polymerase chain reaction (RT-PCR) in 46 CML patients, then amplified the fragment concluding 864bp of patients who presented imatinib(IM) resistance in Abl kinase domain by nested reverse transcript-polymerase chain reaction (RT-PCR) for direct sequencing and analysis. Results Thirty-three of the 46 CML patients expressed M-BCR. Among them, 19 patients expressed b3a2, 6 patients expressed b2a2, 8 were b3a2/b2a2 co-expression. The rate of some rare types, such as e20a2^b2a2/ e20a2 and b3a2/ e20a2 was low. 4 in 6 CML patients who were imatinib resistant in follow-up and had Abl kinase domain point mutation co-expressed b3a2/b2a2. Conclusion Most typical CML patients express M-BCR and a few may express unusual transcripts. In addition, the majority of patients who resist imatinib and have Abl kinase domain point mutation express b3a2/b2a2.
关键词
慢性粒细胞白血病/BCR-ABL融合基因/伊马替尼耐药/点突变Key words
chronic myeloid leukemia/BCR-ABL fusion gene/imatinib resistance/point mutation引用本文复制引用
基金项目
科技部863重大专项(2008AA02Z436)
出版年
2012
NETL
NSTL
维普
万方数据