摘要
目的:研究老年急性髓系白血病(AML)染色体核型和基因突变的发生率及其之间的相互关系。方法:收集205例老年初治AML患者的临床资料、染色体核型和基因突变(FLT3,NPM1,C-Kit,CEBPα,DNMT3A)检测结果,分析染色体核型分布规律及基因突变发生率。结果:染色体核型分析表明,预后良好核型占16.6%,其中t(15;17)占3.90%,t(8;21)占10.73%,inv(16)/t(16;16)占1.95%;预后中等核型占72.2%,其中正常核型占57.86%;预后不良核型占11.20%,其中MLL/11q23占1.95%,复杂核型占6.34%,单体核型占5.85%。基因突变分析显示,FLT3突变占12.57%,NPM1突变占22.06%,C-Kit突变占2.16%,CEBPα突变占14.71%,DNMT3A突变占15.71%。55-59岁患者与60岁及60岁以上患者相比,不良核型中复杂核型(1.09%对10.62%)(P=0.003)和单体核型发生率明显减低(2.17%对8.85%)(P=0.032);良好核型中t(8;21)(17.39%对5.31%)(P=0.008);inv(16)/t(16;16)(4.35%对0.00%)(P=0.045)发生率明显增高;基因突变发生率两组间无明显差异。结论:老年AML患者中55-59岁患者与60岁及以上患者相比,染色体核型分布有较大差异,基因突变发生率无明显区别。老年AML患者中染色体核型及基因突变分布特点对疾病的诊疗工作具有重要指导意义。
Objective：To investigate the incidence of karyotypes and gene mutations for elder acute myeloid leukemia and to explore the relationship between each other. Methods： Clinical data and bone marrow samples of elder AML patients were collected. Karyotype and gene mutation （FLT3, NPM1, C-Kit, CEBPa, DNMT3A ） test were performed, characteristics of karyotypes and gene mutations were analysed. Results： The incidence of better risk karyotype was 16.6 %, in which the incidences of t （ 15 ; 17 ）, t （ 8 ; 21 ） and inv （ 16 ）/t （ 16 ; 16 ） were 3.90 %, 10.73 %, and 1.95% respectively; the incidence of intermediate risk karyotype was 72.2%, in which the incidence of normal karyotype was 57.86 % ; the incidence of poor risk karyotype was 11.20%, in which the incidence of of MLL/11 q23, complex karyotype and monosomal karyotype were 1.95%, 6.34%, 5.85% respectively; the incidences of FLT3, NPM1, C-Kit, CEBPa, DNMT3A mutation were 12. 57%, 22. 06%, 2. 16%, 14. 71%, 15. 71% respectively. Compared with patients older than 60 years, patients with age of 55 -60 years were with less complex karyotype（ 1.09% vs 10.62% ） （ P = 0.003 ） and monosomal karyotype （2.17 % vs 8.85 % ） （ P = 0.032）, and more t （ 8 ;21 ） （ 17.39% vs 5.31% ） （P = 0.008）and inv （16）/t（16;16） （4.35 % vs 0.00% ） （P = 0.045）. Conclusion：For older AML patients, great difference in the distribution of karyotyes was found between the patients older than 60 years and patients with age of 55 - 60 years, while no such characteristics was found for gene mutations. Good elucidation of karyotypes and gene mutations are key for the treatment of older acute myeloid leukemia patients.
出处
《中国实验血液学杂志》
CAS
CSCD
北大核心
2015年第2期300-305,共6页
Journal of Experimental Hematology
基金
天津市科技计划项目(12ZCDZSY17500)
卫生行业科研专项(201202017)
