【骨髓增生异常综合征伴原细胞过多患者SF3B1突变的临床特征】。

F He, T Li, Y F Li, P Tang, L N Sang, Y M Huang, L Sun, L Liu
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引用次数: 0

摘要

目的:探讨SF3B1突变骨髓增生异常综合征(MDS-EB)的临床特点,分析SF3B1突变与MDS-EB患者疗效及预后的关系。方法:回顾性病例系列研究。分析2016年4月至2021年11月在郑州大学第一附属医院确诊的266例MDS-EB患者的临床资料。观察指标包括血常规计数、突变基因、总有效率(ORR)、总生存期(OS)、无进展生存期(PFS)、无白血病生存期(LFS)。Kaplan-Meier法绘制生存曲线。采用Log-rank检验方法比较各组生存率,采用Cox比例风险回归模型进行预后分析。结果:266例MDS-EB患者中,男性166例(62.4%),中位年龄57岁(17-81)。此外,SF3B1突变组和SF3B1野生型组分别纳入26例和240例患者。sf3b1突变组患者年龄较大[中位年龄65(51,69)岁vs. 56(46,66)岁,P=0.033],白细胞(WBC)计数较高[3.08 (2.35,4.78)×109/L vs. 2.13 (1.40, 3.77) ×109/L],血小板(PLT)计数[122.5 (50.5,215.0)×109/L vs. 49.0 (24.3, 100.8) ×109/L],绝对中性粒细胞计数(ANC) [1.83 (1.01, 2.88) ×109/L vs. 0.80 (0.41, 1.99) ×109/L], DNMT3A突变发生率[23.1% (6/26)vs. 6.7%(16/240)](所有PP=0.348, P=1.000)。各组间LFS (P=0.218)、PFS (P=0.179)和OS (P=0.188)相似。单因素Cox分析显示SF3B1突变不影响MDS-EB患者的预后(OS: P=0.193;PFS: P = 0.184)。结论:SF3B1突变患者年龄较大,WBC、PLT、ANC较高,SF3B1突变容易与DNMT3A突变同时发生。从该模型来看,有无SF3B1突变的MDS-EB的疗效和生存率无显著差异。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
[Clinical features of SF3B1 mutation in patients with myelodysplastic syndrome with excess blasts].

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) × 109/L vs. 2.13 (1.40, 3.77) × 109/L], platelet (PLT) counts [122.5 (50.5, 215.0) ×109/L vs. 49.0 (24.3, 100.8) × 109/L], absolute neutrophil counts (ANC) [1.83 (1.01, 2.88) × 109/L vs. 0.80 (0.41, 1.99) × 109/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.

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