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目的 分析急性髓系白血病(acute myeloid leukemia,AML)患者Fms样酪氨酸激酶3(Fms-like tyrosine kinase 3,FL T3)基因第二酪氨酸激酶结构域(Tyrosine-kinase domain,TKD)突变类型,为基因检测及临床应用奠定基础.方法 采用Sanger测序法检测AML患者骨髓细胞FLT3基因第20号外显f喊基序列,统计不同突变类型;收集并比较不同突变类型患者的性别、年龄、WHO分型、白细胞、血红蛋白、血小板、染色体核型等资料.结果 在1,063例AML患者中检测到FLT3-TKD突变58例(5.5％),包括点突变52例,缺失突变5例,点突变伴缺失突变1例,其中点突变D835Y突变型比例最高为31例(53.4％).点突变组与缺失突变组患者在年龄和染色体核型方面差异有统计学意义(P=0.028,P=0.049),在性别、WHO分型、白细胞、血红蛋白、血小板、骨髓原始细胞比例和髓外浸润方面差异无统计学意义(P＞0.05).结论 AML患者FLT3-TKD突变以点突变为主,D835Y突变型比例最高;缺失突变组患者较点突变组患者年龄大.“,”Objective To investigate the second tyrosine-kinase domain (TKD) of the Fms-like tyrosine kinase 3 (FLT3) gene mutation spectrum in acute myeloid leukemia (AML) patients,and to provide basic information for the molecular detection.Methods Exon 20 of FLT3 gene was detected by Sanger sequencing method in AML patients.Different types of mutations were analyzed.The clinical characteristics of patients with FLT3-TKD mutations were collected and analyzed,including sex,age,WHO classification,WBC,Hemoglobin,Platelet,karyotype,etc.Results FLT3-TKD mutation was present in 58 of 1,063 patients with diagnosed AML (5.5％),including point mutation in 52 patients,deletion mutation in 5 patients,point and deletion mutations in 1 patient.In all FLT3-TKD mutations,31 patients with D835Y mutation was the highest (53.4％).There were significant differences in age and karyotype between the point mutation group and the deletion mutation group (P=0.028,P=0.049),but not in sex,WHO classification,WBC,Hemoglobin,Platelet,percentage of bone marrow blast and extramedullary infiltrations (P ＞ 0.05).Conclusion Point mutation was the main type of FLT3-TKD mutation in AML patients,and the frequency of D835Y mutation was higher than other types of FLT3-TKD mutation.