CAJ | 학술논문

目的探讨初诊急性髓系白血病(AML)患者中最常见的10种突变基因的突变组合规律.方法选取AML患者129例,基因测序法检测初诊时骨髓样本中ASXL1、CEBPA、DNMT3A、FLT3、IDH1/2、KIT、NPM1、PHF6和TET2基因突变.结果 68.99％(89/129)患者上述基因突变阳性,30.23％(39/129)同时有多种基因突变.激酶类基因FLT3和KIT突变互斥,不同时出现.FLT多与其他基因伴随突变,而KIT突变多单独出现.转录因子基因CEBPA、NPM1和PHF6可相互伴随突变.表观遗传调控基因ASXL1、DNMT3A、IDH1/2和TET2的突变多与上述两组基因突变同时出现,但该组基因之间较少伴随突变.结论首次对初诊AML中的突变组按基因的功能和分类进行谱型分析,显示基因突变的组合具有一定的规律,与基因的功能和分类相关.
목적 탐토초진급성수계백혈병(AML)환자중최상견적10충돌변기인적돌변조합규률.방법 선취AML환자129례,기인측서법검측초진시골수양본중ASXL1、CEBPA、DNMT3A、FLT3、IDH1/2、KIT、NPM1、PHF6화TET2기인돌변.결과 68.99％(89/129)환자상술기인돌변양성,30.23％(39/129)동시유다충기인돌변.격매류기인FLT3화KIT돌변호척,불동시출현.FLT다여기타기인반수돌변,이KIT돌변다단독출현.전록인자기인CEBPA、NPM1화PHF6가상호반수돌변.표관유전조공기인ASXL1、DNMT3A、IDH1/2화TET2적돌변다여상술량조기인돌변동시출현,단해조기인지간교소반수돌변.결론 수차대초진AML중적돌변조안기인적공능화분류진행보형분석,현시기인돌변적조합구유일정적규률,여기인적공능화분류상관.
Objective To investigate the mutaome profile of the 10 common mutated genes in newly diagnosed acute myeloid leukemia (AML) patients.Methods Gene mutations of ASXL1,CEBPA,DNMT3A,FLT3,IDH1/2,KIT,NPM1,PHF6 and TET2 were analyzed using Sanger sequencing method in bone marrow samples of 129 newly diagnosed AML patients.Results 68.99 ％ (89/129) patients carried at least one mutation,and 30.23 ％ (39/129) carried multiple mutations.Mutations of kinase gene FLT3 and KIT were mutually exclusive,and FLT3 mutations occured more often with other mutations,while KIT mutations usually occured alone.Mutations of transcription factor genes CEBPA,NPM1 and PHF6 were accompany with each other.Mutations of epigenetic regulation genes ASXL1,DNMT3A,IDH1/2 and TET2 were mutually exclusive,but were accompany with mutations of kinase or transcription factor genes.Conclusions There are certain rules in the appearance of genetic mutations,and which are related to the function and classification of genes.