NPM1与FLT3-ITD基因突变在急性髓系白血病的临床意义  

The clinical significance of NPM1 and FLT3-ITD gene mutations in acute myeloid leukemia

作　　者：潘文英 任翠爱[2] 崔景英[2] 刘静[1] 王桂梅 PAN Wenying;REN Cuiai;CUI Jingying;LIU jing;WANG Guimei(Department of Internal Medicine,Weifang Medical University,Weifang 261053,China;Department of Hematology,Weifang People's Hospital)

机构地区：[1]潍坊医学院内科学教研室,山东潍坊261053 [2]潍坊市人民医院血液内科

出　　处：《潍坊医学院学报》2018年第6期410-413,共4页Acta Academiae Medicinae Weifang

摘　　要：目的探讨成人急性髓系白血病患者核仁磷酸蛋白1(NPM1)与FMS样酪氨酸激酶-3(FLT3)基因突变情况及临床意义。方法回顾性分析75例成人急性髓系白血病(AML)患者NPM1和FLT3-ITD基因突变情况,比较其结果。结果 NPM1,FLT3-ITD基因突变阳性率分别为20. 0%,10. 7%,NPM1和FLT3-ITD基因同时突变阳性率为5. 2%. NPM1突变阳性组初诊时血WBC、PLT、骨髓原始细胞比例较高,差异均有统计学意义,1疗程CR率最高。FLT3突变阳性组初诊时WBC明显升高,骨髓原始细胞比例高,1疗程CR率最低。NPM1和FLT3同时突变组WBC和骨髓原始幼稚细胞升高明显,差异有统计学意义。结论对于初诊AML患者检测NPM1和FLT3-ITD基因突变,有利于对疾病诊断、危险分层以及指导治疗。Objective To explore the mutation status and clinical significance of nucleolar phosphine 1( NPM1) and FMS-like tyrosine kinase-3( FLT3) in adults with acute myeloid leukemia. Methods The mutations of NPM1 and FLT3-ITD in 75 adult AML patients were retrospectively analyzed,and the results were compared. Results The positive rate of NPM1 gene mutation was 20%,the positive rate of FLT3-ITD gene mutation was 10. 7%,and the positive rate of NPM1 and FLT3-ITD gene mutation was 5. 2%. The proportion of blood WBC,PLT and bone marrow was higher in the initial diagnosis of NPM1 mutation positive group. The difference was statistically significant,and the CR rate was the highest in 1 course. During the initial diagnosis of FLT3 mutation positive group,WBC was significantly increased,the proportion of bone marrow was high,and the CR rate was the lowest. Both NPM1 and FLT3 mutated group WBC and bone marrow primordial immature cells increased significantly,and the difference was statistically significant. Conclusion Detection of NPM1 and FLT3-ITD mutations in AML patients is beneficial to the diagnosis of disease,risk stratification and guidance therapy.

关 键 词：成人急 性髓系白血病 NPM1基因突变 FLT3基因突变 

分 类 号：R733.7[医药卫生—肿瘤]