急性髓细胞白血病FLT3-ITD基因突变与细胞遗传学的关系  

Relationship between FLT3 Internal Tandem Duplication Mutation and Cytogenetics in Patients with Acute Myeloid Leukemia

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

机构地区：[1]昆明医学院第二附属医院,云南昆明650101

出　　处：《昆明医学院学报》2010年第9期16-19,共4页Journal of Kunming Medical College

基　　金：云南省教育厅科学研究基金资助项目(06Z168C)

摘　　要：目的探讨急性髓细胞白血病(AML)FLT3-ITD基因突变与细胞遗传学关系.方法采用PCR-DHPLC方法检测60例初治AML患者骨髓单个核细胞FLT3-ITD突变;应用G显带技术进行核型分析.结果 60例初发AML中,FLT3-ITD突变阳性率为21.67%(13/60);10例对照组均未检测到该突变;不同预后核型组FLT3-ITD突变阳性率不同,预后中等核型组突变率较高40.0%(6/15),预后中等核型组FLT3-ITD突变阳性者外周血白细胞数、骨髓白血病细胞比例高于预后好核型组及预后差核型组(P<0.01).结论 FLT3-ITD突变在AML中多发生于预后中等核型组,而且与预后不良相关;预后中等核型组FLT3-ITD突变阳性者具有外周血高白细胞、骨髓白血病细胞比例高的临床特点.FLT3-ITD突变检测在一定程度上可以弥补细胞遗传学的不足,有可能成为AML常规检测项目之一,有助于白血病的诊断及预后判断.Objective To explore the relationship between FLT3 iInternal tandem duplication mutation and cytogenetics in patients with acute myeloid leukemia.Methods We used polymerase chain reaction denaturing high performance liquid chromatography（PCR-DHPLC）method to investigate FLT3-ITD mutation rate in 60 patients with AML.The G-banding method was used to analyze the karyotype.Results FLT3-ITD mutations were identified in 21.67%（13/60）patients,while there were no mutations identified in ten control cases.Different karyotype groups had different FLT3-ITD mutations rate.FLT3-ITD mutation rate was higher in normal karyotype group[40.0%（6/15）].The AML patient with FLT3-ITD mutations in normal karyotype group had more peripheral white cells and myeloid leukemia cells than patients in good and poor prognosis group（P0.01）. Conclusions FLT3-ITD positive patients with AML are likely to have normal karyomite.FLT3-ITD mutation is related with poor prognosis.The AML patients with FLT3-ITD mutations in normal karyotype group have more peripheral white cells and myeloid leukemia cells.The detection of FLT3-ITD mutations can make up for the deficiency of cytogenetic examination some extent,and may become a routine examination for AML patients,which help to direct their treatment and predict their prognosis.

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

分 类 号：R557.1[医药卫生—血液循环系统疾病]