AML1-ETO融合基因阳性急性髓系白血病临床研究  

Clinical study of AML1-ETO positive acute myeloid leukemia

作　　者：陈洁 薛赢俊 刘维薇 李贞 CHEN Jie;XUE Yingjun;LIU Weiwei;LI Zhen(Department of Clinical Laboratory,Longhua Hospital Affiliated to Shanghai University of Traditional Chinese Medicine,Shanghai 200032,China)

机构地区：[1]上海中医药大学附属龙华医院检验科,上海200032

出　　处：《检验医学与临床》2025年第7期931-935,共5页Laboratory Medicine and Clinic

基　　金：国家自然青年科学基金项目(82003817)。

摘　　要：目的探讨AML1-ETO融合基因阳性的急性髓系白血病(AML)患者的临床特点,为临床诊疗此类疾病提供依据。方法结合细胞形态学、免疫分型、基因检测及染色体核型分析结果,分析1例AML1-ETO融合基因阳性AML患者的临床资料;并以“AML1-ETO”“RUNX1-RUNX1T1”“急性髓系白血病AML”为检索词,对中国知网、PubMed数据库2018-2024年发表的文献进行检索。结果患者骨髓细胞增生活跃,原始细胞占49.5%。免疫表型标志物检测结果显示CD34^(+)、部分CD117^(+)、部分CD33^(+)、HLA-DR^(+)、CD38^(+)、部分CD13^(+)、少量CD56^(+)、少量CD19^(+)。基因检测结果显示AML-ETO融合基因阳性。染色体核型为45,X,-X,t(2;5)(p21;q35),t(8;21)(q22;q22)[11]/46,XX[1]。文献检索共纳入17篇AML1-ETO阳性的AML病例报道。结合病例分析及文献复习对AML的诊断及预后评估方法进行了分析总结。结论AML1-ETO融合基因阳性的AML预后具有异质性。结合细胞形态学、免疫学、基因检测及染色体分析的综合诊断,对此类疾病的精准诊断、预后分层、个体化治疗有重要作用。Objective To investigate the clinical characteristics of AML1-ETO positive patients of acute myeloid leukemia(AML)in order to provide reference for clinical diagnosis and treatment of such diseases.Methods Based on the results of cell morphology,immune typing,gene detection and chromosome karyotyping analysis,the basic clinical data of a case of AML patient with AML1-ETO positive was analyzed.“AML1-ETO”“RUNX1-RUNX1T1”“AML”were used as the keywords to search the literature published in CNKI and PubMed database from 2018 to 2024.Results The bone marrow cells of the patient proliferated actively,and the primitive cells accounted for 49.5%.Immunophenotypic markers detecting showed that CD34 was positive,part of CD117 was positive,part of CD33 was positive,HLA-DR was positive,CD38 was positive,part of CD13 was positive,a small number of CD56 and CD19 were positive.AML-ETO fusion gene was found to be positive by gene detection.The karyotype analysis results were 45,X,-X,t(2;5)(p21;q35),t(8;21)(q22;q22)[11]/46,XX[1].A total of 17 case reports were included in the literature retrieval.Combined with case analysis and literature review,the diagnosis and prognosis evaluation methods of AML were analyzed and summarized.The prognosis of AML1-ETO positive AML was heterogeneous.Conclusion The comprehensive diagnosis combining cell morphology,immunology,genetic testing and chromosome analysis plays an important role in the accurate diagnosis,prognostic stratification,and personalized treatment of such diseases.

关 键 词：急性髓系白血病 AML1-ETO RUNX1-RUNX1T1 核型分析 融合基因 

分 类 号：R446.9[医药卫生—诊断学] R733.7[医药卫生—临床医学]