目的探讨初发急性髓系白血病（AML）患者中FMS样酪氨酸激酶3-基因内部串联重复（FLT3-ITD）和核仁磷酸蛋白1（NPM1）基因突变的发生频率，并进一步分析其与患者临床特征的关系。方法收集44例临床初诊为AML的成人患者骨髓标本，通过基因组DNA-PCR技术对FLT3-ITD和NPM1基因突变进行检测。结果44例患者共检测到FLT3-ITD突变10例，检出率22.7%。FLT3-ITD突变阳性的10例患者和无突变者初诊WBC中位数分别为（98.5±22.5）×109/L和（42.9±12.4）×109/L，两者相比具有统计学差异（P＜0.05）。44例患者共检测到NPM1突变14例，检出率31.8%。大部分突变患者，染色体核型正常。结论FLT3-ITD和NPM1基因突变是AML患者中常见的分子生物学异常，对患者的临床和预后有影响。% Objective To investigate the frequency of Fms-like tyrosine kinase 3 tandem duplication (FLT3-ITD) and nu-cleophosmin 1 (NPM1) gene mutations in patients with incipient acute myeloid leukemia (AML), and its relationship with clinical features of patients. Methods Bone marrow samples were col ected from 44 AML cases, the FLT3-ITD and NPM1 gene muta-tions were examined by genomic DNA PCR, and the relationship between gene mutations and clinical features was analyzed. Results FLT3-ITD gene mutations were detected in 10 cases with a detection rate of 22.7%. The median WBC count in AML pa-tients with FLT3-ITD mutation was (98.5±22.5)×109/L, and that in those with no FLT3-ITD mutation was (42.9±12.4)×109/L(P<0.05). NPM1 gene mutations were detected in 14 cases with a detection rate of 31.8%. Most patients with mutations had normal karyotype. Conclusion FLT3-ITD and NPM1 gene mutations are frequent abnormalities in acute myeloid leukemia, which may affect the prognosis of patients.
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