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河北医学  2022, Vol. 28 Issue (3): 477-482    DOI: 10.3969/j.issn.1006-6233.2022.03.026
  临床研究 本期目录 | 过刊浏览 | 高级检索 |
急性髓系白血病67种基因突变检查及临床意义
黄莉, 林丽娥, 符祥俊, 郭丽, 孟灿
海南省人民医院/海南医学院附属海南医院血液内科, 海南 海口 570311
Examination and Clinical Significance of 67 Gene Mutations in Acute Myeloid Leukemia
HUANG Li, FU Xiangjun, GUO Li, et al
Hainan Provincial People's Hospital / Hainan Hospital Affiliated to Hainan Medical College, Hainan Haikou 570311, China
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摘要 目的:探究急性髓系白血病(AML)患者67种基因突变的发生情况及临床意义。方法:选取2018年5月至2019年5月本院收治的AML患者117例,所有患者均接受临床药物干预,采用二代测序技术进行突变基因筛选,分析基因突变与患者临床特征、预后的关系。结果:117例患者中,108例(92.31%)患者检查到基因突变,其中单基因突变25例(21.37%),2个基因突变共存36例(30.77%),同时携带≥3个基因突变的47例(40.17%)。检测到的基因突变共涉及67种基因,108例患者中突变检出率≥10%的突变基因依次为NRAS(23.15%)、NPM1(19.44%)、DNMT3A(15.74%)、TET2(14.81%)、WT1(12.03%)、CEBPA(12.03%),FLT3-ITD+TKD(11.11%)、GATA2(11.11%)、ASXL1(10.19%)、BCORL1(10.19%)。常见突变基因涉及的通路包括:表观遗传学(57.41%)、转录调节(49.07%)、细胞增殖或凋亡(25.00%)和剪切因子(8.33%)。NRAS基因突变者血红蛋白(HGB)水平低于无突变患者,NPM1基因突变白细胞计数(WBC)水平高于无突变患者(P<0.05);NPM1、DNMT3A基因突变在中危患者中的检出率高于低、高危患者(P<0.05)。NPM1基因突变患者的两年累计生存率高于无突变患者,DNMT3A基因突变患者的两年累计生存率均低于无突变患者(P<0.05),基因突变数目≥3个患者的两年累计生存率低于基因突变数目<3个的患者(P<0.05)。多因素分析结果显示,NPM1基因无突变、DNMT3A基因突变、基因突变数目≥3个与AML患者较差OS相关(P<0.05)。结论:AML患者基因突变率较高,基因突变数目和类型与患者临床特征、预后相关。
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关键词 急性髓系白血病基因突变二代测序技术    
AbstractObjective: To explore the occurrence and clinical significance of 67 gene mutations in patients with acute myeloid leukemia (AML). Methods: Totally 117 patients with AML admitted to the hospital between May 2018 and May 2019 were selected. All patients received clinical drug intervention. Mutant genes were screened by second-generation sequencing technology, and the relationship of gene mutations with clinical characteristics and prognosis of patients were analyzed. Results: Of the 117 patients, 108 (92.31%) had gene mutations, including 25 (21.37%) patients with single-gene mutation, 36 (30.77%) patients with 2 gene mutations, and 47 (40.17%) with ≥3 gene mutations. A total of 67 genetic mutations were detected. Among the 108 patients, the mutant genes with a mutation detection rate of ≥10% were as follows: NRAS (23.15%), NPM1 (19.44%), DNMT3A (15.74%), TET2 (14.81%), WT1 (12.03%), CEBPA (12.03%), FLT3-ITD+TKD (11.11%), GATA2 (11.11%), ASXL1 (10.19%), and BCORL1 (10.19%). Common pathways involved included epigenetics (57.41%), transcription regulation (49.07%), cell proliferation or apoptosis (25.00%) and shear factor (8.33%). The hemoglobin (HGB) level in patients with NRAS gene mutation was lower than that in patients without mutation, and white blood cell count (WBC) in patients with NPM1 gene mutation was higher than that in patients without mutation (P<0.05). The detection rates of NPM1 and DNMT3A gene mutations in the intermediate-risk group were higher than those in the low-risk group and the high-risk group (P<0.05). The two-year cumulative survival rates of patients with NPM1 was higher than that of patients without mutation, and the two-year cumulative survival rate of patients with DNMT3A gene mutations were lower than that of patients without mutation (P<0.05). The two-year cumulative survival rate of patients with gene mutations ≥3 was lower than that of patients with gene mutations <3 (P<0.05). The results of multivariate analysis showed that no NPM1 mutation,DNMT3A gene mutations and gene mutations ≥3 were associated with poorer OS of patients with AML (P<0.05). Conclusion: The gene mutation rate is relatively higher in patients with AML. The number and type of gene mutations are related to clinical characteristics and prognosis of patients.
Key wordsAcute myeloid leukemia    Gene mutation    Second-generation sequencing technology
    
基金资助:海南省卫生健康行业科研项目,(编号:20A200013)
通讯作者: 林丽娥   
引用本文:   
黄莉, 林丽娥, 符祥俊, 郭丽, 孟灿. 急性髓系白血病67种基因突变检查及临床意义[J]. 河北医学, 2022, 28(3): 477-482.
HUANG Li, FU Xiangjun, GUO Li, et al. Examination and Clinical Significance of 67 Gene Mutations in Acute Myeloid Leukemia. HeBei Med, 2022, 28(3): 477-482.
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http://www.hbyxzzs.cn/CN/10.3969/j.issn.1006-6233.2022.03.026     或     http://www.hbyxzzs.cn/CN/Y2022/V28/I3/477
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