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目的 :探讨急性髓细胞白血病(AML)患者的分子遗传学特征及其与临床特征的关联性。方法 :采用骨髓短期培养和G显带技术对103例AML患者进行染色体核型分析,并通过PCR技术对其基因突变、融合基因等进行检测。结果:在103例患者样本中所检测到的FMS样酪氨酸激酶3基因的内部串联重复(FLT3-ITD)突变和酪氨酸激酶结构域点突变(FLT3-TKD)、核磷蛋白1(NPM1)基因突变、神经母细胞瘤RAS癌(NRAS)基因突变、异柠檬酸脱氢酶1(IDH1)基因突变、CCAAT/增强子结合蛋白α(CEBPA)基因突变、人类原癌基因C-KIT突变的发生率分别为14.3%、3.3%、14.3%、12.4%、5.6%、10.6%和18.8%;NPM1突变阳性患者较阴性患者骨髓幼稚细胞比例高(P=0.0105),FLT3-ITD突变阳性患者较阴性患者的病死率低(P=0.0285),而C-KIT突变阳性患者较阴性患者的病死率高(P=0.0255)。结论:AML患者的分子遗传学特征细化了基于核型的AML危险度分层,其中FLT3-ITD、NPM1、C-KIT突变与患者的临床特征有关联。
Objective: To investigate the molecular genetic characteristics of patients with acute myeloid leukemia (AML) and its correlation with clinical features. Methods: A total of 103 cases of AML patients were analyzed for their karyotypes by bone marrow short-term culture and G-banding technique. The gene mutations and fusion genes were detected by PCR. RESULTS: The FLT3-ITD mutation and the tyrosine kinase domain point mutation (FLT3-TKD) and nucleophosmin 1 (FLT3-TKD) were detected in 103 patient samples, NPM1 gene mutation, mutation of NRAS gene, mutation of IDH1 gene, mutation of CCAAT / enhancer binding protein α (CEBPA), mutation of human proto-oncogene C-KIT The incidence of mutations was 14.3%, 3.3%, 14.3%, 12.4%, 5.6%, 10.6% and 18.8% respectively. The percentage of blast cells in NPM1 mutation-positive patients was higher than that in negative patients (P = 0.0105) Patients had a lower case fatality rate (P = 0.0285) than negative patients, whereas patients with positive C-KIT mutations had a higher case fatality rate (P = 0.0255) than negative patients. CONCLUSIONS: The molecular genetic features of AML patients refine the karyotype-based risk stratification of AML. FLT3-ITD, NPM1 and C-KIT mutations are associated with the clinical features of patients.