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

作　　者：谷红丽[1] 王进[2] 秦正红[2] 张日[1] 

机构地区：[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

出　　处：《苏州大学学报（医学版）》2012年第1期84-88,共5页Suzhou University Journal of Medical Science

基　　金：科技部863重大专项(2008AA02Z436)

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。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 

分 类 号：R733.72[医药卫生—肿瘤]