间期荧光原位杂交技术对诊断核心结合因子急性髓系白血病的价值

本研究主要探讨间期荧光原位杂交技术在核心结合因子急性髓系白血病(CBF AML)诊断中的价值。采用间期荧光原位杂交技术(I-FISH),分别应用AML1-ETO双色双融合探针和荧光素直接标记的双色断裂点分离基因探针CBFβ-MYH11检测82例AML-M2及43例AML-M4/M5患者白血病细胞的细胞遗传学异常,并与R显带常规细胞遗传学(CC)检测结果进行比较分析。结果表明:82例AML-M2患者中FISH检测AML1-ETO融合基因阳性患者为25例(30.5%),CC检测存在t(8;21)(q22;q22)染色体异常为23例(28.0%),所有FISH检测AML1-ETO阳性患者中典型的阳性信号模式1R1G2F为22例(88.0%);不典型的信号模式包括1R2G1F和2R1G2F共3例(12.0%)。在所有43例AML-M4/M5患者中,FISH检出inv(16)(p13;q22)/t(16;16)(p13;q22)信号模式(1R1G1F)为10例(23.3%),CC检测出存在inv(16)(p13;q22)/t(16;16)(p13;q22)为2例(4.6%),FISH检测灵敏度显著高于CC(p<0.05)。结论:FISH作为新型细胞遗传学分析技术可以弥补CC技术灵敏度较低、检测周期长等不足,两者结合可以成为CBF AML诊断乃至微小残留病监测的有力工具。

Clinical value of interphase fluorescent in situ hybridization in diagnosis of core-binding factor acute myelocytic leukemia

The purpose of this study was to evaluate the clinical value of interphase fluorescence in situ hybridization（I-FISH） in diagnosis of core-binding factor acute myelocytic leukemia（CBF AML）.The cytogenetic characteristics in leukemia cells from 82 cases of AML-M2 and 43 cases of AML-M4/M5 were detected by using I-FISH with AML1-ETO double color double fusion probe and double color break point isolated gene probe CBFβ-MYH11,and the detected results were compared with results detected by conventional cytogenetic R banding technique（CC）.The results indicated that AML1-ETO fusion gene was detected in 30.5% cases（25/82） by FISH,and t（8;21）（q22;q22） karyotypic aberrations was found in 28.0% cases（23/82） by CC method.Among 25 FISH positive cases,typical FISH positive signal pattern（1R1G2F） was displayed in 22 cases and atypical signal pattern（1R2G1F and 2R1G2F） was found in the other 3 cases.Among all 43 AML-M4/M5 cases,the CBFβ-MYH11 fusion gene was detected in 23.3% cases（10/43） by FISH,which sensitivity was significant higher than that by CC method（2/43）（p0.05）.It is concluded that some insufficiency of CC technique can be compensated by FISH,and combination of I-FISH with CC technique play a crucial role in diagnosis of CBF AML and in monitoring of minimal residual disease.