急性髓系白血病FLT3基因突变的研究

FLT3 Gene Mutations in Acute Myeloid Leukemia

目的:检测初发AML患者FLT3基因突变,探讨其在AML疾病特征和预后评估中的意义。方法:应用聚合酶链反应(PCR)检测54例初发成人AML患者的骨髓标本FLT3基因突变。结果:54例初发成人AML患者中FLT3-ITD突变检出率为22.22%,发生FLT3-ITD基因阳性的AML患者中伴染色体正常核型10例(占83.3%),复杂异常核型2例(占16.7%)。FLT3-ITD基因突变阳性的AML患者的白细胞及骨髓白血病细胞比例显著高于未发生突变者(P<0.05),但在性别、年龄、诱导化疗第1疗程CR率、生存率等方面两组之间差异无统计学意义。2例出现FLT3-TKD基因突变的患者与FLT3-TKD阴性AML患者相比,在初诊时性别、年龄、白细胞计数、骨髓原始细胞比例以及第1疗程CR率差异均无统计学意义。结论:FLT3-ITD突变阳性在染色体正常核型AML患者中比例较高;FLT3-ITD突变的阳性组在外周血白细胞数量和骨髓原始细胞数量方面明显高于该突变阴性组患者。

Objective： This study was aimed to detect the FLT3 gene mutation in patients with de-novo acute myeloid leukemia （AML）, and to investigate its prognostic value and clinical significance. Methods： Polymerase chain reaction （PCR） was used to detect FLT3 gene mutation, in bone marrow samples of 54 patients with de novo AML. Resttlts：The incidence of FLT3-1TD mutation in 54 de-novo AML patients was 22.22%, 10 out of 12 （83.3%） AML patients were identified with normal karyotype, while 16.7% patients were identified as with abnormal karyotype. The peripheral blood white cell count and bone marrow blast cells were significantly higher in the patients with FLT3-1TD mutation than those in patients without FLT3-1TD mutation （ P 〈 0. 05 ）, but there was no statistically significant difference in sex, age, CR rate of the first course induction chemotherapy, survival rate and so on between the two groups. Two cases had FLT3-TKD gene mutation; as compared with FLT3-TKD negative AML patients there was no statistical difference in sex, age, white blood cell count, the percentage of marrow blasts and CR rate of the first course of treatment at the initial diagnosis. Conclusion： FLT3-ITD mutation positive likely occurs in AML patients with normal karyotype, the FLT3-ITD mutation is associated with higher peripheral white cell count and higher percentage of bone marrow blast cells.