伴ASXL1基因突变AML-MRC患者的临床特征及预后分析

Clinical characteristics and prognosis of AML-MRC patients with ASXL1 gene mutation

目的探讨伴ASXL1基因突变急性髓系白血病伴骨髓增生异常相关改变(acute myeloid leukemia with myelodysplasia-related changes,AML-MRC)患者的临床特征及预后。方法回顾性收集115例AML-MRC患者的临床资料,根据ASXL1检测结果,分为ASXL1突变组及ASXL1野生组,对比两组的临床特征;了解ASXL1基因共突变情况;分析ASXL1基因突变与染色体核型、疗效、生存之间的关系及其对患者预后的影响。结果35例(30.4%)患者ASXL1基因突变阳性,29例(82.9%)为老年患者,25例(71.4%)存在骨髓增生异常综合征/骨髓增殖性肿瘤(MDS/MPN)病史。31例(88.6%)ASXL1突变患者有共存基因,常见为U2AF1、DNMT3A、TET2、RUNX1、BCOR、FLT3、TP53、IDH1/2;ASXL1突变多见于异常核型、不良核型的AML-MRC患者。ASXL1突变组与ASXL1野生组相比,患者疗效差(P=0.004),中位总生存时间以及无事件生存期较短(P<0.05)。多因素分析显示,染色体核型、治疗方案、ASXL1突变、FLT3突变是影响患者总生存期的独立因素(P<0.05);而染色体核型、TET2突变是影响患者无事件生存期的独立因素(P<0.05)。结论ASXL1突变为AML-MRC患者常见突变基因,多见于老年、既往MDS/MPN病史患者,合并ASXL1突变提示患者预后不良。

Objective To explore the clinical characteristics and prognosis of acute myeloid leukemia with myelodysplasia-related changes(AML-MRC)patients with ASXL1 gene mutation.Methods The clinical data of 115 patients with AML-MRC were collected and analyzed retrospectively and the patients were divided into ASXL1 mutation group and ASXL1 wild group according to the results of ASXL1 detection.The clinical features were compared between the two groups,the co-mutation of ASXL1 gene was recorded,and the relationships between ASXL1 gene mutation and chromosome karyotype,curative effect,survival and its effect on the prognosis of the patients were analyzed.Results Thirty-five patients(30.4%)were positive for ASXL1 gene mutation,29 patients(82.9%)were elderly,and 25 patients(71.4%)had a history of myelodysplastic syndrome/myeloproliferative tumor(MDS/MPN).A total of 31 cases(88.6%)with ASXL1 mutation had coexisting genes,such as U2AF1,DNMT3A,TET2,RUNX1,BCOR,FLT3,TP53 and IDH1/2.ASXL1 mutations were more common in AML-MRC patients with abnormal karyotype and poor karyotype.Compared with ASXL1 wild group,the curative effect was worse in ASXL1 mutation group(P=0.004),and the median overall survival time and the event-free survival time were reduced(P<0.05).Multivariate analysis showed that chromosome karyotype,treatment regimen,ASXL1 mutation and FLT3 mutation were independent factors affecting the overall survival(P<0.05),while karyotype and TET2 mutation were independent factors affecting the event-free survival(P<0.05).Conclusion ASXL1 mutation is a common mutation gene in AML-MRC patients,and it is more common in elderly patients with a history of MDS/MPN.The combination of ASXL1 mutation indicates a poor prognosis in patients.