SF3B1突变型骨髓增生异常综合征伴原始细胞增多患者临床特征分析

Clinical features of SF3B1 mutation in patients with myelodysplastic syndrome with excess blasts

目的探讨SF3B1突变型骨髓增生异常综合征伴原始细胞增多(MDS-EB)患者的临床特征并分析SF3B1突变对MDS-EB患者疗效及生存的影响。方法回顾性病例系列研究。分析2016年4月至2021年11月郑州大学第一附属医院血液内科确诊的266例MDS-EB患者的临床资料,观察指标包括血常规、突变基因、总体反应率(ORR)、总生存(OS)、无进展生存(PFS)、无白血病生存(LFS)等。生存曲线采用Kaplan-Meier法绘制,组间生存比较采用Log-rank检验,预后相关因素分析采用Cox回归分析。结果266例患者中,男性166例(62.4%),中位年龄57岁(范围17~81岁)。其中,SF3B1突变型患者26例,SF3B1野生型患者240例。与SF3B1野生型患者相比,SF3B1突变型患者的年龄更大[65(51,69)岁比56(46,66)岁,P=0.033],白细胞计数[3.08(2.35,4.78)×10^(9)/L比2.13(1.40,3.77)×10^(9)/L]、血小板[122.5(50.5,215.0)×10^(9)/L比49.0(24.3,100.8)×10^(9)/L]、中性粒细胞绝对值[1.83(1.01,2.88)×10^(9)/L比0.80(0.41,1.99)×10^(9)/L]及伴DNMT3A基因突变的比例[23.1%(6/26)比6.7%(16/240)]也更高(均P<0.05);而二者间2疗程和4疗程的ORR(P=0.348、1.000)、LFS(P=0.218)、PFS(P=0.179)、OS(P=0.188)差异无统计学意义。单因素Cox分析显示,SF3B1突变不影响MDS-EB患者预后(OS:P=0.193;PFS:P=0.184)。结论SF3B1突变型MDS-EB患者年龄更大,白细胞、血小板及中性粒细胞计数更高,更易伴发DNMT3A突变。在现有的临床实践模式下,整体而言,伴或不伴SF3B1突变的MDS-EB患者的疗效和生存无显著差别。

Objective To exploring the clinical features of SF3B1-mutated myelodysplastic syndrome with excess blasts(MDS-EB)and analyzing the association between SF3B1 mutation,and efficacy and prognostic significance for patients with MDS-EB.Methods This was a retrospective case series study.The clinical data of 266 patients with MDS-EB diagnosed in the First Affiliated Hospital of Zhengzhou University between April 2016 and November 2021 were analyzed.The observed indicators included blood routine counts,mutated genes,overall response rate(ORR),overall survival(OS),progression-free survival(PFS),and leukemia-free survival(LFS).The Kaplan-Meier method was used to depict the survival curves.The Log-rank test method was equally used to compare survival across groups and performed the Cox proportional hazard regression model for prognostic analysis.Results In 266 patients with MDS-EB,166(62.4%)were men,and the median age was 57(17-81)years.Moreover,there were included 26 and 240 patients in the SF3B1-mutated and SF3B1 wild-type groups.Patients in the SF3B1-mutated group were older[median age 65(51,69)years vs.56(46,66)years,P=0.033],had higher white blood cell(WBC)counts[3.08(2.35,4.78)×10^(9)/L vs.2.13(1.40,3.77)×10^(9)/L],platelet(PLT)counts[122.5(50.5,215.0)×10^(9)/L vs.49.0(24.3,100.8)×10^(9)/L],absolute neutrophil counts(ANC)[1.83(1.01,2.88)×10^(9)/L vs.0.80(0.41,1.99)×10^(9)/L]and occurrence of DNMT3A mutation[23.1%(6/26)vs.6.7%(16/240)](all P<0.05).The ORR were similar in both groups after 2 and 4 cycles of therapy(P=0.348,P=1.000).Moreover,the LFS(P=0.218),PFS(P=0.179)and OS(P=0.188)were similar across the groups.Univariate Cox analysis revealed that SF3B1 mutation did not affect the prognosis of patients with MDS-EB(OS:P=0.193;PFS:P=0.184).Conclusions Patients with SF3B1 mutation were older,with greater WBC,PLT,and ANC,and SF3B1 mutation easily co-occurred with DNMT3A mutation.From this model,there were no significant differences in efficacy and survival of MDS-EB with or without SF3B1 mutation.