M92287基因突变在急性白血病分布及其对预后影响研究  

M92287 gene mutation distribution and its prognostic significance in patients with acute myeloid leukemia

作　　者：刘庆荣[1] 柴铁[1] 刘艳春[1] 李骏[1] 刘洪涛[1] 李伟[1] 高彩凤[1] 史妍[1] 李静[1] 王欢[1] LIU Qing-rong;CHAI Tie;LIU Yan-chun;LI Jun;LIU Hong-tao;LI Wei;GAO Cai-feng;SHI Yan;LI Jing;WANG Huan(Department of Hematology , Tangshan Gongren Hospital, Tangshari 063000, P. R. China)

机构地区：[1]唐山市工人医院血液科,河北唐山063000

出　　处：《中华肿瘤防治杂志》2019年第7期499-503,507,共6页Chinese Journal of Cancer Prevention and Treatment

摘　　要：目的细胞遗传学特征是决定急性髓系白血病(acute myeloid leukemia,AML)预后效果的重要因素,FLT3-ITD和NPM1突变已被证明是具有明显预后价值的分子畸变。本研究初步探讨M92287基因突变在有细胞遗传学风险的NPM1/FLT3-ITD野生型AML患者的分布及对预后的影响。方法采用PCR基因扩增与基因扫描分析相结合的方法,对2014-01-01-2018-06-01唐山市工人医院收治的157例具有粒细胞遗传学风险的AML患者进行NPM1和FLT3-ITD基因突变分析,采用直接测序法对患者的M92287基因进行突变类型分析。结果 113例NPM1野生型AML患者中,11例(9.7%)发生M92287基因单突变,17例(15.1%)发生M92287基因双突变,但在44例NPM1突变型AML患者中未发生M92287基因突变。在NPM/FLT3-ITD双野生型AML患者中,M92287单突变型患者的1年总生存率和无复发生存率分别为100.0%和75.0%,M92287双突变型患者分别为92.9%和86.5%,均高于M92287野生型患者的51.3%和35.8%,均P<0.05。M92287单突变型患者的2年总生存率和无复发生存率分别为100.0%和75.0%,M92287双突变型患者分别为92.9%和86.5%,均高于M92287野生型患者的26.9%和6.0%),均P<0.05。多因素分析结果显示,M92287单突变和双突变均具有良好的预后意义。结论 M92287基因突变可能与NPM/FLT3-ITD野生型AML患者的良好预后有关,可作为评估预后的指标。OBJECTIVE Cytogenetic features were the important factors determining the prognostic outcome of acute myeloid leukemia(AML),and the fms Like Tyrosine kinase3-Internal Tandem Duplication(FLT3-ITD)and nuclear phosphoprotein NPM1 mutation had been shown to have a significant prognostic value.This study was to preliminarily explore the distribution and prognostic significance of M92287 mutation in NPM1 and FLT3-ITD wild-type acute myeloid leukemia(AML)patients with intermediate cytogenetic risk.METHODS PCR-based ampli cation and gene scanning analysis were performed to detect NPM1 and FLT3-ITD mutations on 157 AML patients with intermediate cytogenetic risk from January 2014 to June 2018 in The Affiliated Tangshan Workers’ Hospital,Direct sequencing was performed to analyze the M92287 mutations.RESULTS M92287 single and double mutations were detectable in 11 and 17 of the 113 NPM1 wild-type patients,accounting for 9.7%and 15.1%respectively.However,there was no M92287 mutations detected in the 44 NPM1 mutated patients.Among the patients with NPM1/FLT3-ITD wild-type,the 1-year and 2-year overall survival and relapse-free survival of the M92287 double(P=0.013,P=0.007)and single mutations(P=0.039,P=0.020)were higher than those in the M92287 wild-type patients,indicating that M92287 mutations can be favorable prognosis factors.The multivariate analysis also confirmed the results.CONCLUSION M92287 mutation may have a relationship with the favorable outcomes of the NPM1/FLT3-ITD wild-type AML patients with intermediate cytogenetic risk.

关 键 词：M92287单突变 急性髓系白血病 NPM1突变 FLT3-ITD突变 预后 

分 类 号：R733.7[医药卫生—肿瘤]