ASXL1突变位点及共突变基因对髓系肿瘤患者预后的影响  

Impact of ASXL1 mutated sites and co-mutated genes on the prognosis of patients with myeloid neoplasms

作　　者：魏自秀 成娟[2] WEI Zixiu;CHENG Juan(The First School of Clinical Medicine,Lanzhou University,Gansu Lanzhou 730000,China;Department of Hematology,the First Hospital of Lanzhou University,Gansu Lanzhou 730000,China.)

机构地区：[1]兰州大学第一临床医学院,甘肃兰州730000 [2]兰州大学第一医院血液科,甘肃兰州730000

出　　处：《现代肿瘤医学》2024年第14期2585-2590,共6页Journal of Modern Oncology

基　　金：甘肃省药品科研项目(编号:2021GSMPA009)。

摘　　要：目的:探讨ASXL1突变位点和共突变基因对髓系肿瘤预后的影响。方法:从cBioportal数据库中下载髓系肿瘤患者(AML、MDS、CMML)突变及临床数据进行筛选,纳入290例ASXL1突变初诊成人髓系肿瘤患者的资料;收集我院2016年1月至2023年6月收治的94例伴ASXL1突变初诊AML、MDS、CMML患者的数据资料,与数据库中筛选的290例资料合并。应用Excel、SPSS 25.0和R4.3.1软件进行分析统计。结果:ASXL1G646组中伴SRSF2,RUNX1,STAG2,CBL,IDH2共突变的比例均高于ASXL1other组,仅RUNX1共突变在两组之间的差异有统计学意义[35.7%(41/115)vs 20.4%(55/269),P=0.002]。TET2在AML患者中突变比例高于MDS和CMML(50.8%vs 30.8%vs 48.6%,P=0.001),STAG2、SF3B1在MDS中突变比例最高(STAG2:6.2%vs 19.4%vs 9.7%,P=0.010;SF3B1:1.5%vs 17.8%vs 4.2%,P=0.000),SRSF2在CMML中突变比例最高(29.2%vs 27.9%vs 45.8%,P=0.015),差异具有统计学意义。多因素分析示年龄≥68岁、RUNX1突变、STAG2突变均为影响患者预后的独立危险因素。生存分析示ASXL1G646组患者OS略短于ASXL1other组,但差异无统计学意义。结论:ASXL1突变位点对髓系肿瘤患者预后无明显影响,初诊时年龄≥68岁、伴RUNX1突变、STAG2突变是影响ASXL1突变髓系肿瘤患者OS的独立危险因素。Objective:To investigate the impact of ASXL1 mutated sites and co-mutated genes on the prognosis of myeloid neoplasms.Methods:The cBioportal database was searched and screened for mutation and clinical data of patients with myeloid neoplasms[acute myeloid leukemia(AML),myelodysplastic syndrome(MDS),chronic myelomonocytic leukemia(CMML)],including data of 290 patients with ASXL1 mutation.94 patients with ASXL1 mutations admitted to our hospital from January 2016 to June 2023 with primary diagnosis of AML,MDS,CMML patients were collected,which were merged with the data of 290 cases screened in the database.Excel,SPSS 25.0 and R4.3.1 software were applied to analyze the statistics.Results:The proportions of concomitant SRSF2,RUNX1,STAG2,CBL,and IDH2 co-mutations in the ASXL1 G646 group were higher than those in the ASXL1 other group,and only RUNX1 co-mutations showed a statistically significant difference between the two groups[35.7%(41/115)vs 20.4%(55/269),P=0.002].TET2 was mutated in a higher proportion of AML patients than in MDS and CMML(50.8%vs 30.8%vs 48.6%,P=0.001),and STAG2 and SF3B1 were mutated in the highest proportion in MDS(STAG2:6.2%vs 19.4%vs 9.7%,P=0.010.SF3B1:1.5%vs 17.8%vs 4.2%,P=0.000),and SRSF2 had the highest proportion of mutations in CMML(29.2%vs 27.9%vs 45.8%,P=0.015),the difference was statistically significant.Multivariate analysis showed that age≥68 years old,RUNX1 co-mutation,and STAG2 co-mutation were all independent risk variables that had an impact on the prognosis of myeloid neoplasms patients with ASXL1 mutation.The overall survival(OS)of patients in the ASXL1 G646 group were slightly shorter than those in the ASXL1 other group,but the difference was not statistically significant.Conclusion:ASXL1 mutation sites has no significant effect on the prognosis of myeloid neoplasms patients,at the initial diagnosis,age≥68 years old,RUNX1 co-mutation,and STAG2 co-mutation are the independent risk factors affecting the OS of myeloid neoplasms patients with ASXL1 mutation.

关 键 词：ASXL1突变 共突变基因 髓系肿瘤 

分 类 号：R733[医药卫生—肿瘤]