CBFβ-MYH11阳性急性髓系白血病患者的分子遗传学特征分析  

Molecular Genetic Characteristics of Acute Myeloid Leukemia Patients with CBFβ-MYH11 Positive

作　　者：姜玉 晁红颖[3] 卢绪章[3] 吴品[4] 孙晓春[1] JIANG Yu;CHAO Hong-Ying;LU Xu-Zhang;WU Pin;SUN Xiao-Chun(School of Medicine,Jiangsu University,Zhenjiang 212oo,Jiangsu Province,China;Department of Clinical Laboratory,Changzhou No.2 People’s Hospital,the Affiliated Hospital of Nanjing Medical University,Changzhou 213000,Jiangsu Province,China;Department of Hematology,Changzhou No.2 People’s Hospital,the Affiliated Hospital of Nanjing Medical University,Changzhou 213000,Jiangsu Province,China;Department of Hematology,Wuxi No.2 People’s Hospital,Wuxi 214000,Jiangsu Province,China)

机构地区：[1]江苏大学医学院,江苏镇江212000 [2]南京医科大学附属常州市第二人民医院检验科,江苏常州213000 [3]南京医科大学附属常州市第二人民医院血液科,江苏常州213000 [4]无锡市第二人民医院血液科,江苏无锡214000

出　　处：《中国实验血液学杂志》2022年第6期1661-1667,共7页Journal of Experimental Hematology

摘　　要：目的:探讨CBFβ-MYH11+急性髓系白血病(AML)患者的基因突变谱,并分析其与部分临床参数的相关性。方法:采用高通量DNA测序技术检测62例CBFβ-MYH11+AML患者51种靶基因突变;采用基因组DNA-PCR联合Sanger测序法检测NPM1基因12号外显子、FLT3-ITD及CEBPA的TAD、b ZIP两个功能结构域的突变发生情况。结果:与RUNX1-RUNX1T1+AML患者相比,CBFβ-MYH11+AML患者年龄较高,有更高的白细胞水平,+22核型的检出率更高,初次诱导完全缓解率更高,性染色体缺失(-X或-Y)比例较低,差异有统计学意义(P<0.05)。CBFβ-MYH11+AML患者以NRAS、KIT、KRAS、FLT3-TKD突变为主,NRAS、FLT3-TKD突变率明显高于RUNX1-RUNX1T1+AML患者(51.6%vs 18.7%,17.7%vs 3.8%),差异均有统计学意义(P<0.05)。结论:CBFβ-MYH11+AML患者与RUNX1-R UNX1T1+AML患者有不一样的临床参数特征及基因突变谱。Objective:To explore mutational characteristics of acute myeloid leukemia(AML) patients with CBFBMYH11+and analyze the correlation between the mutations and partial clinical characteristics.Methods:A total of62 AML patients with CBFβ-MYH11+were included and 51 candidate genes were screened for their mutations using targeted next-generation sequencing(NGS).The exon 12 of NPM1,FLT3-ITD,and TAD,bZIP domains of CEBPA were detected by genomic DNA-PCR combined with sanger sequencing.Results:Compared with RUNX1-RUNX1 T1+group,the patients with CBFB-MYH11+showed higher age,peripheral WBC level,initial induced complete remission(CR) rate,more commonly carried chromosomal abnormalities such as+22,and lower deletion ratio of sex chromosome(-X or-Y)(P<0.05).In AML patients with CBFβ-MYH11+,the most common mutation was NRAS,followed by KIT,KRAS,and FLT3-TKD.Compared with RUNX1-RUNX1 T1+group,NRAS and FLT3-TKD were more frequently mutated in patients with CBFB-MYH11+(51.6% vs 18.7%,17.7% vs 3.8%)(P<0.05).Conclusion:The genomic landscape and clinical characteristics of AML patients with CBFB-MYH11+are different from patients with RUNX1-RUNX1 T1+.

关 键 词：CBFβ-MYH11 急性髓系白血病 基因突变 

分 类 号：R733.7[医药卫生—肿瘤]