急性髓系白血病AML1/ETO融合基因检测及其临床意义

目的 了解急性髓系白血病中AML1／ETO融合基因表达情况及相关临床意义。方法 应用RT-PCR技术检测159例初发未治急性髓系白血病患者骨髓单个核细胞（MNC）AML1／ETO融合基因及R显带技术检测染色体，并对部分病人进行追踪检测及随访。结果 159例未经选择的初发急性髓系白血病病人中，31例（19．5％）有t（8；21）（q22；q22）易位，36例（22．6％）表达AML1／ETO融合基因，所有t（8；21）阳性的病人均存在AML1／ETO融合基因。AML1／ETO融合基因阳性病人缓解率为80．6％（29／36），高于阴性病人（M，除外）的60．2％（56／93）；AML1／ETO阳性病人经治疗后转阴并持续阴性者预后好，而持续阳性者预后差，由阴性转阳性者可预示复发。14例持续缓解超过18个月的病人AML1／ETO融合基因仅1例为阳性。结论 （1）RT—PCR法检测AML1／ETO mRNA敏感、快速，定期检测可监测微小残留病变。（2）单次PCR法扩增AMLl／ETO融合基因优于巢式PCR法。

Detection of AML1/ETO fusion gene mRNA in acute myeloid leukemia and its clinical significance

Objective To investigate the expression of AML1/ETO fusion gene mRNA in acute myeloid leukemia(AML) and its clinical significance. Methods AML1/ETO fusion gene and cytogenetics were analyzed respectively by RT-PCR and R binding technique in 159 AML patients. Results AML1/ETO fusion gene mRNA was detected in 36 of 159 patients with AML(22.6%), 31 of 159 patients (19.5%) showed a t(8;21) by karyotype analysis. All patients who had a t(8;21) in conventional karyotyping also showed the gene rearrangement in molecular analysis. The complete remission rate in AML1/ETO positive patients was significantly higher than that in AML1/ETO negative patients[ 80.6% (29/36) vs 60.2% (56/93)]. The AML1/ETO postive patients who became negative after chemotherapy had an optimistic outcome, but the patients who demonstrated persistence of AML1/ETO mRNA had poor prognosis. PCR becoming positive again indicated relapsing. Among 14 patients who had maintaining remission more than 18 months, there was only one patient was detected AML1/ETO. Conclusion ( 1 ) RT-PCR method for detecting AML1/ETO mRNA is very sensitive. Which can be a regular method for monitoring minimal residual disease. (2) Single time PCR is better than nested PCR in AML1/ETO mRNA analysis.