荧光原位杂交技术检测BCR/ABL融合基因

Detection of BCR/ABL fusion genes by fluorescence in situ hybridization

目的建立荧光原位杂交(FISH)技术,直接原位检测间期细胞中BCR/ABL融合基因,辅助临床诊断和治疗慢性粒细胞性白血病(CML)。方法应用FISH技术检测15例CML患者骨髓培养细胞BCR/ABL融合基因,其中5例CML患者同时取骨髓直接涂片检测,5例CML患者同时取外周血浓缩单个核细胞直接涂片检测。以5例非CML患者骨髓培养细胞为阴性对照。结果15例患者骨髓标本成功培养10例,染色体分析检测到Ph1染色体8例。15例患者骨髓培养细胞FISH检测BCR/ABL融合基因阳性14例。5例CML患者同时做骨髓直接涂片FISH检测,结果阳性4例。5例CML患者同时做血标本浓缩单个核细胞FISH检测阳性2例。5例非CML患者FISH结果均阴性。结论FISH技术能直接原位检测间期细胞中BCR/ABL融合基因,且快速、可靠、成功率高,是诊断和监测CML的一项有效新技术。

Objective To detect BCR/ABL fusion genes of interphase cells by fluorescence in situ hybridization （FISH） as an assistant way of diagnosis and treatment of chronic myelogenous leukemia （CML）. Methods FISH was applied to detect BCR/ABL fusion genes of 15 CML marrow samples , among which 5 CML marrow smears and 5 CML mononuclear cell smears of peripheral blood mere detected by FISH simultaneously. 5 marrow culture cells of non-CML were used as controls. Results 10 of 15 CML marrow samples were cultured successfully and 8 Phl chromosomes were detected by chromosome analysis. 14 BCR./ABL fusion genes positive cases in 15 marrow samples, 4 positive cases in SCML marrow smears,and 2 positive cases in 5 CML mononuclear cell smears were detected by FISH. 5 negative cases in 5 non-CML samples were detected by FISH. Conclusions BCR/ABL fusion genes of interphase cells could be detected quickly and reliably by fluorescence in situ hybridization, which was a new way of diagnosis and monitoring of CML.