DNMT3A R882突变在急性髓系白血病中的临床意义

    Clinical significance of DNMT3A R882 mutation in acute myeloid leukemia

    • 摘要:
      目的研究初发急性髓系白血病(AML)病人中DNA甲基化转移酶3A(DNMT3A)R882位点突变情况,并分析其相关临床资料特征。
      方法运用DNA基因测序法检测116例AML病人与30例缺铁性贫血病人骨髓样本中DNMT3A R882突变情况。
      结果116例初发AML病人中,DNMT3A R882突变共16例,包括R882H突变9例,R882C突变7例,且均为杂合突变,而良性对照组中无突变;DNMT3A R882突变型AML(Mut-DNMT3A)组病人核型正常的AML(NK-AML)人数及M4、M5人数多于DNMT3A野生型AML组(Wild-DNMT3A组)(P < 0.05)。Mut-DNMT3A组病人年龄、外周血白细胞数及血小板数高于Wild-DNMT3A组(P < 0.05)。Mut-DNMT3A组病人总生存率、无病生存率均低于Wild-DNMT3A组(P < 0.05)。
      结论DNMT3A R882突变易发生于AML病人,特别是NK-AML及M4、M5病人,且常合并高龄、高白细胞危险因素;DNMT3A R882突变是AML病人预后不良的生物学标志。

       

      Abstract:
      ObjectiveTo investigate the mutation of DNA methyltransferase 3A(DNMT3A) R882 in patients with acute myeloid leukemia(AML), and analyze the characteristics of related clinical data.
      MethodsThe mutations of DNMT3A R882 in 116 patients with AML and 30 patients with iron deficiency anemia were detected using DNA gene sequencing.
      ResultsAmong 116 patients with AML, 16 cases with DNMT3A R882 mutation were identified, which included 9 cases with R882H mutation and 7 cases with R882C mutation, all mutations were heterozygous mutations, while there was not mutation in benign control group.The number of patients with normal karyotype AML(NK-AML), and M4 and M5 in DNMT3A R882 mutation AML(Mut-DNMT3A) group were significantly higher than that in DNMT3A wild type AML(Wild-DNMT3A) group(P < 0.05).The patient age, and white blood cell amount and platelet amount in peripheral blood in Mut-DNMT3A group were significantly higher than those in Wild-DNMT3A group(P < 0.05).The overall survival rate and disease-free survival rate in Mut-DNMT3A group were significantly lower than those in Wild-DNMT3A group(P < 0.05).
      ConclusionsDNMT3A R882 mutation is easy to occur in AML patients, especially NK-AML, M4 and M5 patients, and complicated with risk factors of old age and high white blood cell amonut.DNMT3A R882 mutation is a biological marker of poor prognosis in AML patients.

       

    /

    返回文章
    返回