CEBPA公司
净现值1
髓系白血病
癌症的体细胞进化
神经母细胞瘤RAS病毒癌基因同源物
生物
白血病
突变
基因突变
肿瘤科
基因
遗传学
癌症研究
核型
内科学
医学
染色体
克拉斯
作者
Xiao Chen,Han Zhu,Chun Qiao,Sishu Zhao,Lu Liu,Yan Wang,Han Seung Jin,Qian Shen,Yu‐Jie Wu
出处
期刊:Hematology
[Informa]
日期:2021-01-01
卷期号:26 (1): 111-122
被引量:9
标识
DOI:10.1080/16078454.2020.1858610
摘要
Objectives The study aims to understand geneome diversification and complexity that developed in Acute myeloid leukemia (AML).Methods Next-generation sequencing (NGS) was used to identify the genetic profiles of 22 genes relevant to hematological malignancy in 204 patients with de novo non-M3 AML.Results At time of initial diagnosis, at least one mutation was identified in 80.9% of patients (165/204). The most commonly mutated gene was NPM1 (22.1%), followed by ASXL1 (18.1%), TET2 (18.1%), IDH2 (15.7%), CEBPA (14.7%), FLT3-ITD (13.2%) and DNMT3A (11.8%). Mutations landscape analysis indicated several patterns of co-occurring and mutual exclusive gene mutations. Some correlation was observed between gene mutations and clinicohematological features. Multivariate analysis showed that age >60 years, karyotypes, IDH2 and KIT mutations were the independent unfavorable prognostic factors for OS; NPM1-mut/ FLT3-ITD-wt was independently correlated with prolonged OS; whereas the independent poor risk factors for RFS were karyotypes, high WBC and RUNX1 mutation. According to different genotype demonstrated by multivariate analysis, 163 patients with intermediate-risk cytogenetics were classified into three subgroups: patients with NPM1-mut/ FLT3-ITD-wt or biallelic CEBPA mutation as favorable risk, patients with KIT, IDH2, TP53 or NRAS mutations as unfavorable risk, and the remaining was the intermediate risk. We also obtain information of clonal evolution during leukemia progression by observing five patients who underwent repeat NGS at relapse in our cohort.Conclusion NGS techniques is a useful tool for discovering related gene mutations and clonal evolution in AML genomes, leading to novel targeted therapeutic approaches that could improve patients outcomes.
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