多参数流式细胞术在AML1/ETO阳性急性髓系白血病诊断中的应用研究

目的本研究旨在探讨多参数流式细胞术(multiparameter flow cytometry,MFCM)在AML1/ETO融合基因阳性的急性髓系白血病(AML)诊断中的应用价值以及分析AML1/ETO融合基因阳性患者的骨髓细胞免疫表型,为病人早期诊断、分型和预后分层提供依据。方法将细胞遗传学或分子遗传学检查到AML1/ETO融合基因阳性作为金标准,筛选南昌大学第一附属医院2010年1月-2018年1月期间收治初诊AML1/ETO阳性AML患者44例,阴性患者44例,收集所有患者实验室信息(主要包括骨髓细胞形态学,多参数流式细胞术,细胞遗传学或分子遗传学检测结果)。采用四格表分别对骨髓细胞形态学和流式细胞术两种方法诊断AML1/ETO融合基因结果真实性和可靠性进行评价,比较骨髓细胞形态学、流式细胞术检查的诊断效能指标,探讨多参数流式细胞术在AML1/ETO融合基因相关的AML早期诊断中的应用价值并分析AML1/ETO阳性AML的免疫表型特点。结果 AML1/ETO阳性患者均表达CD117、CD34、CD33以及HLA-DR(阳性率100.00%),43例表达CD13(阳性率97.73%),42例表达CD19(阳性率95.45%)。CD117、CD34、HLA-DR以及CD19共表达的阳性率高达95.45%,而在44例AML1/ETO阴性患者中,均无此表型特点。多参数流式细胞术检测的灵敏度(81.82%vs25.00%),符合率(88.64%vs62.50%)以及阴性预测值(84.00%vs57.14%)明显高于形态学,漏诊率(18.18%vs75.00%)明显低于形态学,特异度(95.50%vs100%)略低于形态学,综合诊断效能明显优于形态学。结论多参数流式细胞术在AML1/ETO融合基因阳性AML的诊断中具有重要的应用价值,CD117、CD34、HLA-DR以及CD19的共表达是AML1/ETO融合基因阳性AML独特的免疫表型。

The application value of multiparameter flow cytometry in the diagnosis of acute myeloid leukemia with AML1/ETO

Objective To investigate the application value of multiparameter flow cytometry in acute myeloid leukemia with AML1/ETO and its immunophenotypic analysis,providing the basis for the early diagnosis,classification and prognosis stratification of patients.Methods Regarding cytogenetic or molecular genetics examination for AML1/ETO fusion gene as the golden standard,44 AML1/ETO positive AML patients and 44 AML1/ETO negative patients had been collected from the First Affiliated Hospital of Nanchang University in January 2010-January 2018.All of the patients’ lab information(including bone marrow cell morphology,multiparameter flow cytometry,the testing results of cytogenetics and molecular genetics) was recorded.Use four grid table to respectively evaluate authenticity and reliability of bone marrow cell morphology and flow cytometry diagnosing AML1/ETO fusion gene and then compare the diagnosis efficiency indexes of the two methods.Finally,discuss the application value of multiparameter flow cytometry in the early diagnosis of acute myeloid leukemia with AML1/ETO and its immunophenotypic?characteristics.Results All the AML1/ETO positive patients expressed CD117,CD34,CD33 and HLA-DR,43 patients expressed CD13(positive rate was 97.73%),and 42 patients(95.45%) expressed CD19.The co-expression rate of CD117,CD34,HLA-DR and CD19 was 95.45%,while none of the 44 AML1/ETO negative patients had this phenotypic feature.Multiparameter flow cytometry detection sensitivity(81.82%vs25.00%),coincidence rate(88.64%vs62.50%) and negative predictive value(84.00%vs57.14%)were significantly higher than bone marrow cell morphology.The rate of missed diagnosis(18.18%vs75.00%) was significantly lower than morphology,the specificity(95.50%vs100%) was slightly lower than morphology,and the comprehensive diagnostic efficiency was obviously better than morphology.Conclusion Multiparameter flow cytometry has important application value in the diagnosis of AML1/ETO fusion gene positive AML,and the co-expression of CD117,CD34,HLA-DR and CD19 is a unique immunophenotype of AML1/ETO fusion gene positive AML.