间期荧光原位杂交技术在急性髓系白血病M2和M3型诊断中的应用

目的 探讨间期荧光原位杂交技术(FISH)在急性髓系白血病(AML)M2和M3诊断中的意义.方法 对初治的9例AML-M3、12例AML-M3及10例未能确定M2或M3的AML患者,应用FISH和反转录-聚合酶链反应(RT-PCR)检测AMLI/ETO和PML/RARα融合基因,协助诊断和指导治疗.结果 9例AML-M2中AMLI/ETO融合基因阳性率44.4%(4/9);12例AML-M3中PML/RARα融合基因阳性率83.3%(10/12),其中1例AML1/ETO融合基因阳性.确诊为AML-M2;10例AML中AML1/ETO融合基因阳性率30%(3/10),PML/RAR Ot融合基因阳性率50%(5/10),其余2例未检测到以上两种融合基因.结论 FISH是一种敏感、简便的分子遗传学新技术,具有高效、快速、灵敏等优点,对诊断AML的分型具有重要帮助,可进一步指导临床治疗.

Value of interphase fluorescence in situ hybridization in diagnosing acute myeloid leukemia M2 and M3

Objective To investigate the value of interphase fluorescence in situ hybridization(FISH)technique and the detection of fusion gene in the diagnosis of acute myeloid leukemia(AML)M2 and M3 Methods FISH was used to detect the AML1/ETO fusion gene and/or PML/RARα fusion gene in incipient cases including 9 AML-M2, 12 AML-M3 and 10 AML undetermined as AML-M2 or AML-M3 primarily diagnosed by routine morphology though bone marrow,cytochemical staining and immunophenotyping,which can help diagnose and guide clinical therapy.Results 4 of 9 AML-M2 cases were AML1/ETO positive.Among 12 AML-M3 cases,10 were PML/RARα positive.1 case was detected AML1/ETO fusion gene.In 10 untonfirmed M3 or M2,3 case8 showed AML1/ETO,5 showed PMIJRARot fusion gene and the rest showed neither of the genes.Conclusion As a new technique of the molecular genetics,FISH is accurate, rapid and efficient.It would be of significance not only at diagnosis of AML,but also for subsequent clinical decision-making.