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| 急性髓系白血病中DNMT3a基因突变的研究 | |
| 引用本文： | 乔纯,孙超,张苏江,钱思轩,钱锡峰,缪扣荣,朱华渊,洪鸣,李建勇. 急性髓系白血病中DNMT3a基因突变的研究[J]. 中国实验血液学杂志, 2011, 19(2): 303-307 |
| 作者姓名： | 乔纯 孙超 张苏江 钱思轩 钱锡峰 缪扣荣 朱华渊 洪鸣 李建勇 |
| 作者单位： | 1. 南京医科大学第一附属医院,江苏省人民医院血液科,江苏,南京,210029 2. 南京医科大学附属无锡市人民医院血液科,江苏,无锡,214000 |
| 基金项目： | 国家自然科学基金青年基金 |
| 摘 要： | 本研究探讨急性髓系白血病(AML)患者DNM73a基因突变情况及临床特征.采用PCR扩增产物直接测序法检测77例AML患者.NMT3a基因第882位氨基酸的突变情况,分析突变阳性患者的临床特征.结果表明,59例初诊AML患者中7例(11.9%)具有DNMT3a基因突变,突变类型分别为4例DNMT3a R882C、2例DNMT3a R882H和1例DNM73a Y874C.7例DNMT3a基因突变患者中2例为M2、1例为M4、4例为M5.27例正常核型中5例(22.7%)发生突变,而21例异常核型中无1例发生突变.CEBPA阳性患者发生DNMT3a突变率明显高于CEBPA阴性患者(p=0.002).突变患者中有4例(4/7,57.1%)伴有琳系抗原CD4和/或CD7的表达.DNMT3a突变组患者的年龄、性别、骨髓原始细胞数、白细胞数、血小板数、血红蛋白、完全缓解(CR)率、FLT3-ITD、NPM1和c-kit突变与DNMT3a野生型组相比均无统计学意义(p>0.05).结论:DNMT3a基因突变多见于正常染色体核型AML伴NPM1和/或CEBPA突变阳性患者,其在AML患者预后中的预测价值有待于进一步的深入研究. |
| 关 键 词： | DNMT3a基因 基因突变 急性髓系白血病 |
Analysis of DNMT3a Gene Mutations in Acute Myelogenous Leukemia |
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| QIAO Chun,SUN Chao,ZHANG Su-Jiang,QIAN Si-Xuan,QIAN Xi-Feng,MIAO Kou-Rong,ZHU Hua-Yuan,HONG Ming,LI Ban-Yong. Analysis of DNMT3a Gene Mutations in Acute Myelogenous Leukemia[J]. Journal of experimental hematology, 2011, 19(2): 303-307 | |
| Authors: | QIAO Chun SUN Chao ZHANG Su-Jiang QIAN Si-Xuan QIAN Xi-Feng MIAO Kou-Rong ZHU Hua-Yuan HONG Ming LI Ban-Yong |
| Affiliation: | QIAO Chun,SUN Chao,ZHANG Su-Jiang,QIAN Si-Xuan,QIAN Xi-Feng1,MIAO Kou-Rong,ZHU Hua-Yuan,HONG Ming,LI Jian-Yong Department of Hematology,Nanjing Medical University First Hospital,Jiangsu Provincial People Hospital,Nanjing 210029,Jiangsu Province,China,1Department of Hematology,Wuxi Municipal People Hospital,Nanjing Medical University,Wuxi 214000 |
| Abstract: | This study was purposed to investigate the mutational status of DNA methyltransferase(DNMT3a) gene and the clinical features of AML patients with DNMT3a mutations.Using PCR combined with directly sequencing,the somatic mutations of DNMT3a involving residue of amino acid 882 were detected in 77 AML patients.Furthermore,the clinical features of these patients were also studied. The results showed that the DNMT3a mutation were detected in 7 out of 59 patients with de novo AML(11.9%),which included 4 patients w... |
| Keywords: | DNMT3a gene mutation acute myelogenous leukemia |
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