急性髓细胞白血病FLT3-ITD基因的表达及临床意义

目的 通过对初诊急性髓细胞白血病(acute myeloid leukemia,AML)患者进行FLT3 -ITD基因突变检测,探讨FLT3-ITD基因突变与AML临床特征的相关性,为AML的临床分层治疗、分子靶向治疗及预后判断提供理论依据.方法 采用实时定量聚合酶链反应(RT-PCB)检测60例初治AML患者和10例对照组患者骨髓FLT3-ITD基因突变.结果 60例初治AML患者突变阳性率为25.0％( 15/60),10例对照组患者骨髓均未检测到该突变;依据法美英协作组(FAB)分型标准备亚型FLT3 -ITD突变率不同,其中以M3、M5型突变率较高；60例初治AML中,28例老年AML组与32例非老年AML组FLT3-ITD基因表达水平比较,差异有统计学意义(P＜0.05)；FLT3-ITD阳性组患者具有外周血白细胞数、骨髓白血病细胞比例高的临床特点,并且FLT3-ITD阳性组化疗后完全缓解率(CR)低于FLT3-ITD阴性组(P＜0.05).结论 FLT3-ITD基因突变在AML患者中存在一定的突变率,且多见于M3、M5型患者,FLT3-ITD阳性患者具有外周血白细胞数、骨髓白血病细胞比例高,CR低的临床特点.

Expression and clinical significance of FLT3 gene in acute myeloid leukemia

Objective Through detecting FLT3-ITD gene mutations of initial treatment acute myeloid leukemia(AML),to explore the relationship between FLT3-ITD gene mutations and the clinical characteristics of AML,then to provide the theoretic basis for the clinical layered treatment,molecular target therapy and prognosis of AML.Methods The mutation of FLT3-ITD in bone marrow samples from 60 patients with initial treatment AML and 10 cases as the control group was detected by the real-time PCR technology.Results FLT3-ITD mutations were identified in 25.0%(15/60)AML patients,while there were no mutations identified in 10 cases of the control group.Different FAB subtypes of AML had different mutations rate,and M3 and M5 had an obviously higher mutation rate than other subtypes.There was no difference in the expression level of FLT3 between 28 cases of elderly AML and 32 cases of non-elderly AML(P<0.05).The peripheral white cell count and bone marrow blast cells were significantly higher in the patients with FLT3-ITD mutation than those in the patients without FLT3-ITD mutation(P<0.01).The complete remission rate was significantly lower in the patients with FLT3-ITD mutation than that in those without FLT3-ITD mutation(P<0.05).Conclusion FLT3-ITD gene mutations have a certain mutation rate in the acute myelogenous leukemia patients,FLT3-ITD mutation is likely to occur in M3 and M5 of AML patients,and the AML patients with FLT3-ITD gene mutations in normal karyotype group have a higher mutation rate trend.FLT3-ITD mutation is associated with higher peripheral white cell count,higher percentage of bone marrow blast cells and a lower complete remission rate compared with the patients without FLT3-ITD mutation.