急性髓细胞白血病FLT3-ITD基因突变的检测及其临床意义  

Detection and clinical significance of FLT3 internal tandem duplication mutation in acute myeloid leukemia

作　　者：尹列芬[1] 王晔[1] 姚锦[1] 黄桂云[1] 瞿晓媛[1] 杨玲[1] 

机构地区：[1]昆明医学院第二附属医院血液科,云南昆明650101

出　　处：《西安交通大学学报（医学版）》2009年第4期453-455,共3页Journal of Xi’an Jiaotong University（Medical Sciences）

基　　金：云南省教育厅科学研究基金资助项目(No .06Z168C)~~

摘　　要：目的探讨急性髓细胞白血病(acute myeloid leukemia,AML)患者人Fms样酪氨酸激酶3内部串联重复(Fms-like tyrosine kinase3-intenal tandem duplication,FLT3-ITD)基因突变及其临床意义。方法采用聚合酶链反应-变性高效液相色谱(polymerase chain reaction-denaturing high performance liquid chromatography,PCR-DHPLC)方法检测60例初治AML患者和10例对照组骨髓FLT3-ITD基因突变。结果60例AML患者FLT3-ITD突变阳性率21.67%(13/60),10例对照组均未检测到该突变;FAB各亚型FLT3-ITD突变率不同,有M3型突变率较高的趋势;FLT3-ITD阳性组外周血白细胞数、骨髓白血病细胞比例高于FLT3-ITD阴性组(P<0.01);FLT3-ITD阳性组完全缓解(CR)率低于FLT3-ITD阴性组(P<0.05)。结论FLT3-ITD基因突变多见于M3患者,FLT3-ITD阳性者具有外周血白细胞数、骨髓白血病细胞比例高、CR率低的特点。FLT3-ITD基因突变可作为预测AML预后的一个指标。Objective To investigate thc mutation of FLT3 internal tandem duplication （ITD） in patients with acute myeloid leukemia （AML） and its clinical significance. Methods Thc mutation of FLT3-ITD in bone marrow samples from 60 patients with de novo AML and 10 control groups was detected by polymerase chain reaction denaturing-high performance liquid chromatography （PCR-DHPLC）. Results There were 13 out of 60 （21.67%） AML patients identified with FLT3-ITD mutation, which was not identified in 10 of the control groups. Different FAB subtypes of AML had different mutation rate, and M3 had an obviously higher mutation rate than other subtypes. The peripheral white cell count and bone marrow blast cells were significantly higher in patients with FLT3-ITD mutation than in those without （P 〈 0.01）. The complete remission rate was significantly lower in patients with FLT3-ITD mutation than those without （P 〈 0.05）. Conclusion FLT3-1TD mutation is likely to occur in M3 of AML patients. FLT3-ITD mutation is associated with a higher peripheral white cell count and a higher percentage of bone marrow blast cells and a lower complete remission rate compared with those patients without FLT3-ITD mutation. The detection of FLT3-ITD mutation may be used as an index of AML prognosis.

关 键 词：急性髓细胞白血病 FLT3 内部串联重复 基因 聚合酶链反应-变性高效液相色谱技术 

分 类 号：R733.7[医药卫生—肿瘤]