DNMT3A R882位点突变急性髓系白血病临床分析  

Clinical characteristics of acute myeloid leukemia with DNMT3A R882 mutation

作　　者：高展[1] 刘延方[1] 王冲[1] 周阳[1] 朱颖超[1] 徐衍[1] 董丽[1] 侯杰[1] 仝佳音[1] 刘若阳[1] 侯降雪 李涛[2] 张秋堂[2] 孙慧[1] 孙玲[1] 万鼎铭[1] 

机构地区：[1]郑州大学第一附属医院血液内科,郑州450052 [2]郑州大学第一附属医院血液病研究室,郑州450052

出　　处：《郑州大学学报（医学版）》2017年第3期300-303,共4页Journal of Zhengzhou University(Medical Sciences)

摘　　要：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。Aim： To explore the clinical characteristics of acute myeloid leukemia（ AML） with DNMT3A R882 mutation. Methods： The clinical data of 168 AML patients undergoing detection of DNMT3A R882 loci mutation were collected retrospectively. Gene sequencing after PCR was used to detect the DNMT3A R882 loci mutation,as well as CEBPA,NPM1 and FLT3-ITD mutations. The expressions of 18 antigens on leukemic blasts were assessed by 4 color flow cytometry. The prognosis was analyzed using K-M curve. Results： DNMT3A R882 mutation was detected in 24 patients（ 14. 29%）. Compared with the patients without DNMT3A R882 mutation,the patients with DNMT3A R882 mutation tended to be more older,with higher white blood and platelet counts,with higher expressions of CD33 and CD11b and poorer expression of CD34,and more companied with NPM1 and FLT3-ITD mutations. The patients with DNMT3A R882 mutation had a shorter median event-free survival time than those without（ 62 d vs 277 d）,but there was no significant difference in complete response rate after the first course of treatment. Conclusion： The AML patients with DNMT3A R882 mutation have obvious clinical features and a poor prognosis.

关 键 词：急性髓系白血病 DNMT3A R882位点突变 临床特征 

分 类 号：R733.71[医药卫生—肿瘤]