净现值1
CEBPA公司
核心结合因子
运行x1t1
神经母细胞瘤RAS病毒癌基因同源物
髓系白血病
医学
生物
癌症研究
克拉斯
内科学
突变
遗传学
染色体
基因
染色体易位
核型
转录因子
作者
Yu Jiang,Hongying Chao,Xuzhang Lu,Wu Pin,Xiaochun Sun
出处
期刊:PubMed
日期:2022-12-01
卷期号:30 (6): 1661-1667
标识
DOI:10.19746/j.cnki.issn.1009-2137.2022.06.006
摘要
To explore mutational characteristics of acute myeloid leukemia (AML) patients with CBFβ-MYH11+ and analyze the correlation between the mutations and partial clinical characteristics.A total of 62 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.Compared with RUNX1-RUNX1T1+ group, the patients with CBFβ-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-RUNX1T1+ group, NRAS and FLT3-TKD were more frequently mutated in patients with CBFβ-MYH11+ (51.6% vs 18.7%, 17.7% vs 3.8%) (P<0.05).The genomic landscape and clinical characteristics of AML patients with CBFβ-MYH11+ are different from patients with RUNX1-RUNX1T1+.CBFβ-MYH11阳性急性髓系白血病患者的分子遗传学特征分析.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。.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, bZIP两个功能结构域的突变发生情况。.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)。.CBFβ-MYH11+ AML患者与 RUNX1-RUNX1T1+ AML患者有不一样的临床参数特征及基因突变谱。.
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