单体核型急性髓细胞白血病的综合诊断信息分析

Studies on the MICM diagnostic characteristics of monosomal karyotype AML

目的:通过分析单体核型急性髓细胞白血病(AML-MK)患者的综合诊断信息,探讨该亚类的实验室特征。方法:本文搜集AML-MK患者与正常核型急性髓细胞白血病患者(AML-NK)的一般临床信息、形态学诊断、白血病细胞的基因突变和免疫表型信息,用统计学方法研究AML-MK组与AML-NK组间的差异。结果:AML-MK好发于男性患者,且多见于急性单核细胞白血病(NK组vs MK组分别为:47.27%vs 70.00%,24.55%vs 57.50%,P<0.05);AML-MK患者更常发生TP53、TET2突变(NK组vs MK组分别为:3.30%vs 22.58%,16.48%vs 35.48%,P<0.05),而CEBPA、NPM1突变概率较低(NK组vs MK组分别为:38.54%vs 16.13%,28.13%vs 3.23%,P<0.05);其恶性克隆更易见表达CD9,但CD7表达率较低(NK组vs MK组分别为:24.77%vs 48.72%,44.04%vs 23.08%,P<0.05)。结论:AML-MK患者的实验室特征为较常出现TP53、TET2的突变及CD9的表达,这些特征可为AML-MK的形成机制、治疗与疗效监测提供线索。

Objective:To explore the laboratory characteristics of AML-MK through these diagnostic information.Methods:We collected clinical features,morphological,molecular genetic and immunophenotypic information from AML-MK and AML-NK patients,to statistically investigate differences between the two groups.Results:AML-NK was more commonly observed in male and AML-M5 patients(AML-NK vs AML-MK:47.27%vs 70.00%,24.55%vs 57.50%respectively,P<0.05).AML-MK patients were observed of more frequent TP53 and TET2 mutations(AML-NK vs AML-MK:3.30%vs 22.58%,16.48%vs 35.48%respectively,P<0.05)and lower mutation rate of CEBPA and NPM1(AML-NK vs AML-MK:38.54%vs 16.13%,28.13%vs 3.23%respectively,P<0.05).Higher expression rate of CD9 were detected in the malignant clones of AML-MK,along with lower expression rate of CD7(AML-NK vs AML-MK:24.77%vs 48.72%,44.04%vs 23.08%respectively,P<0.05).Conclusion:AML-MK patients are prone to acquire TP53 and TET2 mutations,and with higher expression rate of CD9,that may provide clues to the formational mechanism,therapeutic strategies and therapy monitoring for AML-MK.