急性髓系白血病中FLT3-ITD基因突变的检测及其临床意义

Detection and Clinical Significance of FLT3-ITD Gene Mutation in Patients with Acute Myeloid Leukemia

本研究旨在检测急性髓系白血病(AML)患者FLT3-ITD基因突变,探讨该突变在此类患者中的发生率和临床意义。采用PCR扩增技术检测216例初发AML患者骨髓,R显带技术进行核型分析,并结合患者临床资料分析临床特点,随访分析其预后。结果表明,216例初发AML中,FLT3-ITD突变阳性率为20.83%。正常核型AML的FLT3-ITD突变阳性率为24%,异常核型AML的FLT3-ITD突变阳性率为12.5%。FLT3-ITD突变阳性者外周血白细胞数、骨髓中白血病细胞比例高于阴性者(P<0.01)。有FLT3-ITD突变者无病生存和总生存时间比无突变者短,二者有统计学差异(P<0.05)。结论:FLT3-ITD突变阳性者具有外周血白细胞计数高和骨髓白血病细胞比例高的临床特点。FLT3-ITD突变阳性可作为核型正常AML患者的危险因素,有助于判断预后,指导临床个体化治疗。

This study was aimed to evaluate the prevalence of FT3-1TD mutation in patients with acute myeloid leukemia （AML） and its significance for prognosis. The bone marrow of 216 patients with AML were detected by using PCR and R-banding methods. On basis of patients＇ clinical data the clinical feature and prognosis were analyzed. The results showed that in 216 AML patients incidence of FLT3-1TD mutation was 20.83%. FLT3-1TD mutation was present in 24% patients with normal karyotype while in 12.5% patients with abnormal karyotype. The FLT3-1TD positive patients had more white blood cells in peripherai blood and leukemia cells in bone marrow（ P 〈 0.01 ）. The free-disease survival and overall survival time were shorter in FLT3-1TD posotive cases than that in FLT3-1TD negative cases （P 〈 0. 05）. It is concluded that FLT3-ITD mutation positive patinets have more white blood cells in peripheral blood and leukemia cells in bone marrow. The FLT3-1TD mutaion may be a danger factor in the AML patients with normal karyotype. It may be helpful for evaluating prognosis and guidin~ individual treatment of AML.