用聚合酶链反应技术检测急性髓细胞白血病AML_1－ETO融合转录产物

DETECTION OF AML_1-ETO FUSION TRANSCRIPT INACUTE MYELOGENOUS LEUKEMIA WITH POLYMERASECHAIN REACTON TECHNIQUE

应用一对引物（ＥＴＯＵ＿１／ＥＴＯＤ＿１）通过逆转录酶／聚合酶链反应（ＲＴ／ＰＣＲ）扩增１７例急性髓细胞白血病（ＡＭＬ）患者的ＡＭＬ＿１－ＥＴＯ融合转录本，１２例初治患者（Ｍ＿１１１例、Ｍ＿４１例）中一致性扩增到预期的２００ｂｐ大小的片段，其中７例证实有典型ｔ（８；２１）或其变异型。扩增片段大小及其限制性内切醇谱提示ｔ（８；２１）易位的ＡＭＬ＿１和ＥＴＯ基因断裂点局限于一个内含子。５例Ｍ＿２已完全经解２～３８个月仍检测到相同的ＡＭＬ＿１－ＥＴＯ融合ｍＲＮＡ，提示体内仍残存少量ｔ（８；２１）异常克隆。ＡＭＬ＿１－ＥＴＯ融合转录本的检测是诊断和监测ｔ（８；２１）ＡＭＬ的有力手段。

e used one set primer (ETOU_1/ETOD_1 ) which wascapable to amplify the AML_1-ETO fusion transcript in17 cases of AML by reverse transcriptase polymerasechain reaction (RT/PCR). A predictable 200-bp DNAfragment could be amplified in all 12 untreated cases (11patients were FAB-M_2, 1 FAB- M_4).of 12cases,typical t(8; 21) or its variants were found in 7 withcytogenetics assay. The size of the amplified DNAfragment and the patterns of restriction digest in allsamples were identical, which indicated that t (8; 21 )translocation breakpoint occured within a single intron ofthe AML_1 and ETO genes. We also found the residualAML_1- ETO fusion mRNA in another 5 FAB-M_2patients who had been in cornplete remission for 2 to 38months. This results showed that minimal residualleukemic cells persisted in the bone marrows of thosepatients. We concluded that detection of AML_1-ETOfusion transcript was a powerful tool for diagnosis andmonitoring of the t (8 ; 21) positive AML.