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目的:分析DNMT3A R882位点突变急性髓系白血病(AML)患者的临床特征。方法:选取接受DNMT3A R882位点突变检测的168例初治AML患者,采用PCR联合基因测序法检测DNMT3A R882位点突变以及CEBPA、NPM1和FLT3-ITD突变,采用4色多参数流式细胞仪分析18种抗原在白血病细胞上的表达,K-M法绘制生存曲线用于预后分析。结果:共检出24例(14.29%)DNMT3A R882位点突变的AML患者。DNMT3A R882位点突变与未突变者比较,患者表现为高龄,发病时白细胞、血小板计数高,CD33和CD11b阳性率较高,CD34阳性率较低,易合并NPM1及FLT3-ITD基因突变;第一疗程诱导化疗后完全缓解率与未突变组比较差异无统计学意义,但中位无事件生存时间缩短(62 d vs 277 d)。结论:DNMT3A R882位点突变的AML具有较显著的临床特征,预后差。
Objective: To analyze the clinical features of patients with DNMT3A R882 mutation in acute myeloid leukemia (AML). Methods: A total of 168 patients with newly diagnosed AML were enrolled in this study. The mutation of R882 site of DNMT3A and the mutations of CEBPA, NPM1 and FLT3-ITD were detected by PCR combined with gene sequencing. Four-color multi-parameter flow cytometry 18 kinds of antigens in leukemia cells, KM method to draw the survival curve for prognostic analysis. RESULTS: Twenty-four AML patients (14.29%) with mutations in the R882 site of DNMT3A were detected. DNMT3A R882 locus mutation compared with non-mutated, the patients showed advanced age, the incidence of leukocytes, high platelet counts, high positive rate of CD33 and CD11b, CD34 positive rate is low, easy to merge NPM1 and FLT3-ITD gene mutations; the first There was no significant difference in complete remission rate between the two groups after induction of chemotherapy, but the median survival time was shorter (62 days vs 277 days). Conclusion: AML with mutation of R882 site of DNMT3A has more obvious clinical features and poor prognosis.