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本研究在形态学亚型构成比例相似情况下比较具有正常核型的NPM1基因突变阳性的AML(NPM1m+AML)与突变阴性的AML(NPM1m-AML)非特指型(NOS)间的免疫表型、临床、细胞遗传学和基因表达特征。利用多参数流式细胞术进行免疫分型检测;定量PCR方法检测NPM1基因A、B、D型突变及多种基因;正常核型的NPM1m+AML并进行免疫分型患者共77例,AML NOS患者55例。结果表明:NPM1m+AML患者以女性为主,WBC和血小板计数、WT1表达水平、FLT3-ITD突变阳性率和第一疗程诱导缓解率明显高于NPM1m-AML(P<0.05)。在免疫表型方面共有10个抗原显著不同,主要为早期分化标志CD34、HLA-DR、CD117、CD38和淋系标志CD4、CD7、CD19、CD2的低表达及CD123、CD33的高表达。进一步分析NPM1m+AML中M1/2和M4/5患者的结果显示,M1/2患者保留了女性为主及WBC数和WT1表达较高的特点(P<0.05),免疫表型共有9个抗原的阳性细胞数明显不同(P<0.05),主要为包括HLA-DR内的单核细胞标志及CD7在M4/5中高表达及CD117的低表达。结论:在形态学亚型构成比例相似及正常核型情况下,NPM1m+AML高表达WT1,且具有较高的CR率,免疫表型主要表现为早期祖细胞标志、淋系标志的低表达和CD33、CD123的高表达。在NPM1m+AML中只有M4/5患者高表达单核细胞相关标志。
In this study, immunophenotypes between AML (NPM1m + AML) positive for NPM1 gene with normal karyotype and non-specific AML (NPM1m-AML) with mutation were compared between the morphological subtypes with similar proportions. , Clinical, cytogenetics and gene expression characteristics. A total of 77 patients with normal karyotype NPM1m + AML were enrolled in this study. AML NOS 55 patients. The results showed that the prevalence of WBC and platelet count, WT1 expression, FLT3-ITD mutation positive rate and the induction rate of first course of treatment were significantly higher in NPM1m + AML patients than in NPM1m-AML patients (P <0.05). A total of 10 antigens in the immunophenotype were significantly different, mainly for early differentiation markers CD34, HLA-DR, CD117, CD38 and lymphoid markers CD4, CD7, CD19, CD2 low expression and CD123, CD33 high expression. Further analysis of the results of patients with M1 / 2 and M4 / 5 in NPM1m + AML showed that women were predominant in M1 / 2 patients and had high expression of WBC and WT1 (P <0.05). There were 9 antigens in immunophenotype (P <0.05), mainly including the expression of monocyte in HLA-DR, the high expression of CD7 in M4 / 5 and the low expression of CD117. CONCLUSION: NPM1m + AML highly express WT1 and have high CR rate under the morphological subtypes with similar proportions and normal karyotypes. The immunophenotypes mainly include early progenitor cell markers, low expression of lymphoid markers and High expression of CD33, CD123. Only M4 / 5 patients in NPM1m + AML overexpressed monocyte-associated markers.