临床儿科杂志 ›› 2020, Vol. 38 ›› Issue (9): 647-.doi: 10.3969/j.issn.1000-3606.2020.09.002

• 血液肿瘤疾病专栏 • 上一篇    

293 例再生障碍性贫血患者髓系肿瘤基因变异分析

樊晔 1, 尹华 2, 胡绍燕 1, 何广胜 2, 卢俊 1, 肖佩芳 1, 李捷 1, 何海龙 1   

  1. 1.苏州大学附属儿童医院血液科(江苏苏州 215000);2.江苏省人民医院血液科(江苏南京 210000)
  • 发布日期:2020-09-17
  • 通讯作者: 何海龙 电子信箱:bloodhe@163.com
  • 基金资助:
    苏州市重点病种诊疗技术专项项目(No.LCZX201710)

Analysis of myeloid tumor-related gene mutations in 293 patients with aplastic anemia

 FAN Ye, YIN Hua, HU Shaoyan, HE Guangsheng, LU Jun, XIAO Peifang, LI Jie   

  1. 1. Department of Hematology, Children's Hospital Affiliated to Soochow University, Suzhou 215000, Jiangsu, China; 2. Department of Hematology, Jiangsu Province Hospital, Nanjing 210000, Jiangsu, China
  • Published:2020-09-17

摘要: 目的 分析25种髓系肿瘤基因变异与获得性再生障碍性贫血(AA)的相关性。方法 收集293例儿童及成 人AA患者的临床资料,运用二代测序技术靶向检测25种髓系肿瘤基因,分析AA患者的基因变异情况。结果 293例 AA患者中,男性155例、女性138例,儿童青少年142例、成人151例,非重型AA178例、重型或极重型115例。共有19例 (6.48%)患者检测出髓系肿瘤基因变异,ASXL1 2例、KRAS 1例、PIGA 2例、TP53 2例、BCOR 2例、TET2 5例、SF3B1 1例、 DNMT3A 2例、SH2B3 2例和MPL 1例。男性变异6例(3.87%)、女性变异13例(9.42%),差异无统计学意义(P>0.05); 儿童青少年变异4例(2.82%)、成人变异15例(9.93%),差异有统计学意义(P<0.05);非重型AA患者变异14例(7.78%); 重型或极重型AA组变异5例(4.35%),差异无统计学意义(P>0.05)。 有变异组及无变异组经过6个月免疫抑制治疗,有 效率分别为73.68% (14/19)和63.18% (151/239),差异无统计学意义(P>0.05)。 结论 AA患者中25种髓系肿瘤基因 变异率为6.48%,儿童患者变异较成人患者少,有无基因变异对联合免疫抑制治疗效果无影响。

关键词:  再生障碍性贫血; 髓系肿瘤相关基因; 二代测序

Abstract:  Objectives To explore the relationship between 25 kinds of myeloid tumor gene mutations and acquired aplastic anemia (AA). Methods The clinical data of AA in 293 children and adults were collected. Twenty five kinds of myeloid tumor gene mutations were detected by second-generation sequencing, and the results were analyzed. Results Among 293 AA patients (155 boys and 138 girls), there were 142 children and adolescents and 151 adults. There were 178 cases of non-severe AA and 115 cases of severe or very severe AA. The myeloid tumor gene mutations were detected in 19 patients (6.48%), and they were ASXL1 (1 case), KRAS (1 case), PIGA (2 cases), TP53 (2 cases), BCOR (2 cases), TET2 (5 cases), SF3B1 (2 cases), DNMT3A (2 cases), SH2B3 (1 case) and MPL (1 cases). In the 19 patients with genetic variations, there were 6 boys (3.87%) and 13 girls (9.42%) and difference was not statistically significant (P>0.05). Four (2.82%) children and adolescents had variation and 15 (9.93%) adults had variation, and the difference was statistically significant (P<0.05). The genetic variation were in 14 cases in non-severe AA patients (7.78%) and in 5 cases in severe or very severe AA patients (4.35%), and difference was not statistically significant (P>0.05). After 6 months of immunosuppressive therapy, the effective rates in mutation group and non-mutation group were 73.68% (14/19) and 63.18% (151/239) respectively, and the difference was not statistically significant (P>0.05). Conclusion  In AA patients, the mutation rate from 25 myeloid tumor gene mutations was 6.48%. The mutation rate of children was less than that of adults. Whether there was gene mutation or not had no impacts on the effect of combined immunosuppressive therapy.

Key words: aplastic anemia;  myeloid tumor-related mutation; second-generation gene sequencing