DNMT3A R882 mutation is associated with elevated expression of MAFB and M4/M5 immunophenotype of acute myeloid leukemia blasts
DNMT3A R882 mutation is associated with elevated expression of MAFB and M4/M5 immunophenotype of acute myeloid leukemia blasts
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DOI：
10.3109/10428194.2015.1015123
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发表时间：
2015-02
影响因子：
2.6
通讯作者：
Li Yang;Ya-nan Liu;Li Zhu;M. Xiao
中科院分区：
文献类型：
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作者：
Li Yang;Ya-nan Liu;Li Zhu;M. Xiao
研究人员已经认识到异常甲基化是血液系统恶性肿瘤发病机制中的一个重要起始事件。DNMT3A是一种DNA甲基转移酶，在DNA从头甲基化中起着至关重要的作用。DNMT3A的体细胞突变，特别是DNMT3A编码序列的Arg882 （R882）位点的突变，已在白血病前干细胞克隆中被鉴定为急性髓性白血病（AML）的驱动突变之一。统计分析表明，根据法国-美国-英国分类，DNMT3A突变的AML患者倾向于AML的M4/M5亚型。在这项研究中，我们旨在探讨白血病母细胞的典型免疫表型与DNMT3A R882突变之间的关系。此外，我们进一步确定DNMT3A R882突变与单核细胞分化基因表达的关系及其临床意义。
Researchers have recognized that aberrant methylation is an important initiating event in the pathogenesis of hematological malignancies. DNMT3A is a DNA methyltransferase that plays a vital role in de novo methylation of DNA. Somatic mutation of DNMT3A, especially at the Arg882 (R882) site of the DNMT3A coding sequence, has been identified in pre-leukemic stem cell clones as one of the driver mutations of acute myeloid leukemia (AML). Statistical analysis has indicated that patients with AML with DNMT3A mutation tend to have the M4/M5 subtype of AML according to the French–American–British classification. In this study we aimed to investigate the association between the typical immunophenotype of leukemic blasts and mutation of DNMT3A R882. In addition, we further determined the relationship between DNMT3A R882 mutation and the expression of monocytic differentiation genes, and its clinical significance.