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伴SRSF2突变急性髓系白血病患者的临床特征及预后分析

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目的:研究伴SRSF2基因突变初诊急性髓系白血病(AML)患者的临床特征及异基因造血干细胞移植(allo-HSCT)的疗效.方法:回顾性分析2016年6月-2022年12月就诊于苏州大学附属第一医院且二代测序检测出SRSF2突变的AML患者的临床资料.结果:共57例SRSF2基因突变患者纳入本研究,其中男42例(73.7%),女15例(26.3%),中位年龄60(17~83)岁.57例SRSF2突变患者中,18例(31.6%)患者为SRSF2 P95H 突变,15 例(26.3%)患者为 SRSF2 P95L 突变,8 例(14.0%)患者为 SRSF2 P95R 突变.SRSF2 P95H突变与年龄较大、白细胞计数增高、较高的VAF值相关.共突变基因分析显示,SRSF2突变的AML最常见的伴随基因突变为RUNX1突变(33.0%).生存分析显示,57例SRSF2突变AML患者的2年总生存(OS)率为29.6%,2年无病生存(DFS)率为24.7%.接受allo-HSCT巩固治疗组患者2年OS率和2年DFS率分别为46.9%和41.0%,化疗组患者2年OS率和DFS率分别为20.4%和11.7%,2组患者间OS(P=0.012 4)和DFS(P=0.013 3)比较差异均有统计学意义.多因素分析结果显示,年龄是影响SRSF2突变AML患者OS(HR=2.385,95%CI 1.074~5.298,P=0.033)和 DFS(HR=3.378,95%CI 1.223~9.334,P=0.019)的独立危险因素.结论:allo-HSCT可以改善SRSF2基因突变初诊AML患者预后.年龄是影响伴SRSF2突变的AML患者OS和DFS的独立危险因素.
Clinical features and survival analysis in acute myeloid leukemia patients with SRSF2 gene mutation
Objective:To investigate the clinical characteristics and the efficacy of allogeneic hematopoietic stem cell transplantation(allo-HSCT)in acute myeloid leukemia(AML)patients with SRSF2 gene mutation.Methods:From June 2016 to December 2022,the clinical data of patients admitted to the First Affiliated Hospital of Soochow University with SRSF2 mutations detected by next-generation sequencing were retrospectively ana-lyzed.Results:57 patients with AML were included in the study,comprising 42 males(73.7%)and 15 females(26.3%),with a median age of 60(17-83)years.Among the 57 patients with SRSF2 mutations,18 cases(31.6%)had SRSF2 P95H mutations,15 cases(26.3%)had SRSF2 P95L mutations,and 8 cases(14.0%)had SRSF2 P95R mutations.SRSF2 P95H mutations are associated with older age,increased white blood cell count,and higher VAF values.Co-mutation gene analysis showed that the most common concomitant gene muta-tion in SRSF2-mutated AML patients was the RUNX1 mutation(33.0%).Survival analysis showed that the 2-year overall survival(OS)and 2-year disease-free survival(DFS)of 57 cases SRSF2-mutated AML patients were 29.6%and 24.7%,respectively.The 2-year OS and DFS were 46.9%and 41.0%in the allo-HSCT group and 20.4%and 11.7%in the chemotherapy group,respectively.The two groups had significant differences in OS(P=0.012 4)and DFS(P=0.013 3).The results of multivariate analysis showed that age was an independent risk factor for OS(HR=2.385,95%CI 1.074-5.298,P=0.033)and DFS(HR=3.378,95%CI 1.223-9.334,P=0.019)in SRSF2-mutated AML patients.Conclusion:Allo-HSCT can improve the prognosis of AML patients with SRSF2 gene mutation.In addition,age can be an independent risk factor for OS and DFS in AML patients with SRSF2 mutations.

acute myeloid leukemiageneSRSF2hematopoietic stem cell transplantationsurvival analysis

雷棋怡、肖金燕、李鹏飞、徐杨

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苏州大学附属第一医院血液科,国家血液系统疾病临床医学研究中心,江苏省血液研究所,卫生部血栓与止血重点实验室,苏州大学造血干细胞移植研究所(江苏苏州,215006)

急性髓系白血病 基因 SRSF2 异基因造血干细胞移植 生存分析

国家重点研发计划苏州市科技计划国家自然科学基金

2019YFC0840604SKY202100482100231

2024

临床血液学杂志
华中科技大学同济医学院血液病研究所 北京医科大学血液病研究所

临床血液学杂志

CSTPCD
影响因子:1.063
ISSN:1004-2806
年,卷(期):2024.37(7)