目的 探讨FMS样酪氨酸激酶3(FMS-like tyrosie kinase3,FLT3)基因突变对急性髓细胞样白血病(acute myeloid leukemia,AML)的影响。方法 采用聚合酶链反应(polymerase chain reaction,PCR)结合直接测序和克隆测序对50例初诊AML患者FLT3突变进行研究,并结合临床资料进一步分析。结果 正常核型AML患者FLT3基因内部串联重复(internal tandem duplication,ITD)阳性检出率20%,高于异常核型(6.25%);与野生组相比,FLT3-ITD(+)突变患者初诊时白细胞计数、血红蛋白及骨髓原始细胞比例均高,缓解率低。结论 FLT3突变是正常核型AML患者的主要分子标志,其对疾病预后及靶向治疗具有重要意义。

Objective To study the influence of FLT3 gene mutation on acute myeloid leukemia(AML). Methods We used PCR combined with direct sequencing and cloning sequencing to investigate FLT3 mutation in 50 AML patients, and further analyzed clinical data of these patients. Results FLT3-ITD mutation was found in 20% AML patients with normal karyotype, which was higher than that in patients with abnormal karyotype. Compared with wild-type group, the WBC count, hemoglobin and blast cells in bone marrow were all high in FLT3-ITD positive group which with lower CR ratio. Conclusions FLT3 mutation is the major molecular marker of AML patients with normal karyotype, which is very important for prognosis analysis and targeted therapy of AML.