中文摘要：

目的探讨急性髓细胞白血病（AML）患者白细胞表面分化抗原（CD）表达与DNA甲基转移酶3A基因（DNMT3A）突变之间的关系。方法收集264例初发AML患者骨髓样本,用荧光定量PCR检测其融合基因表达水平,流式细胞术检测其CD抗原表达水平,Sanger测序法检测其DNMT3A基因突变,并结合临床特征进行分析。结果 264例AML患者中发现237例DNMT3A野生型;27例（10.2%）患者存在DNMT3A突变。突变类型包括DNMT3A R882H 12例,DNMT3A R882C 15例。在AML各亚型中的DNMT3A突变率分别为M00%（0/5）,M114.3%（4/28）,M25.0%（3/60）,M30%（0/24）,M410.7%（9/84）和M517.4%（11/63）。在237例野生型患者中发现AML1-ETO、BCR-ABL、CBFB-MYH、MLL-AF9、PML-RARa融合基因突变分别为19例、3例、19例、2例、18例,但27例突变型患者均未合并上述融合基因。CD抗原分析结果显示,CD14、CD56抗原表达率在野生型和突变型患者差异有统计学意义（P〈0.05）,而其他免疫抗原在两组间差异均无统计学意义（P〉0.05）;在纳入预后分析的36例AML-M5中,DNMT3A野生组的1个疗程缓解率为53.6%（15/28）,DNMT3A突变组的1个疗程缓解率为25.0%（2/8）,两组间差异无统计学意义（χ2=2.04,P〉0.05）。其中24例CD56阳性的AML-M5患者在DNMT3A突变组中1个疗程缓解率为25.0%（2/8）,明显低于野生组的68.8%（11/16）（P=0.043）。结论 DNMT3A基因突变在AML-M1、M2、M4及M5患者中均有发现;在AML-M5患者中DNMT3A基因突变与CD抗原有一定关联性,原始细胞表达CD56、CD14在DNMT3A基因突变患者中增高,而CD34表达下降;CD56表达阳性的AML-M5患者若伴有DNMT3A基因突变,其预后较差。

英文摘要：

Objective To investigate the relationship between the cluster of differentiation （CD） expression and the incidence of DNA methyltransferase 3A （DNMT3A） gene mutation in the patients with acute myeloid leukemia （AML）. Methods Bone marrow sam- ples from 264 patients with untreated AML were collected. Then, the expression levels of fusion genes were detected by fluorescence quantitative PCR, the levels of CD antigens by flow cytometry, and the mutations of DNMT3A gene by Sanger sequencing. The correla- tions of DNMT3A mutations with the clinical features of the AML patients were analyzed. Results The mutation of DNMT3A gene was detected in 10.2% （27/264） of AML patients, including 12 patients with DNMT3A R882H and 15 with DNMT3A R882C. The muta- tion rates of DNMT3A gene were 0% （0/5） in M0, 14.3% （4/28） in M1 , 5.0% （3/60） in M2,0% （0/24） in M3, 10.7% （9/ 84） in M4 and 17.4% （ 11/63 ） in Ms, respectively. However, the mutations of fusion genes, such as AML1-ETO, BCR-ABL, CBFB- MYtt, MLL-AF9 and PML-RARa, were detected in 19, 3, 19, 2 and 18 patients with wild type DNMT3A, respevtively, but the mutation of fusion genes could not be detected in any of the 27 patients with the mutation of DNMT3A gene. In addition, there was significant difference of CD56 and CD14 expression between the patients with wild type and mutation type of DNMT3A （ P 〈 0.05 ）, while other CD antigens were not （P 〉 0.05 ）. Among 36 AML-M5 patients enrolled in the prognostic analysis, 53.6% （15/28） of patients with wild type DNMT3A and 25.0% （2/8） with mutation type DNMT3A were completely relieved after one cycle of induction chemotherapy, and there was no statistical significance between them （Xz = 2.04, P 〉 0.05）. However, in 24 AML-M5 patients with positive CD56, the complete remission rate （25.0%, 2/8） after one cycle of induction chemotherapy in mutation type DNMT3A was significantly lower than that in wild type DNMT3A （68.8%, 11/16） （P = 0. 043）. Conclusion The mu