肿瘤预防与治疗2025，Vol.38Issue(12)：1042-1049,8.DOI:10.3969/j.issn.1674-0904.2025.12.002
伴STAG2基因突变骨髓增生异常综合征患者临床特征及预后分析
Clinical Characteristics and Prognosis of Patients with Myelodysplastic Syndromes Accompanied with STAG2 Mutation
摘要
Abstract
Objective:To investigate the clinical characteristics and survival of patients with myelodysplastic syndromes(MDS)and STAG2 gene mutation.Methods:We conducted a retrospective analysis of 162 newly diagnosed MDS patients from the Department of Hematology,The Second Affiliated Hospital of Air Force Medical University,from January 31,2015 to December 31,2023.Second-generation sequencing was used to detect gene mutations.We then analyzed the clinical characteristics and prognosis of patients with STAG2 mutations.Results:A total of 21 patients(12.9%)had STAG2 mutations.Patients with STAG2 mutations had a medi-an age of 74 years(range:71～75)at diagnosis.Compared to patients without STAG2 mutations,they showed comparable distributions in terms of age,gender,white blood cell count,platelet count,and the presence of complex karyotype.A sig-nificant difference was found in the bone marrow blast percentage(P=0.006),hemoglobin level(P=0.021),and Inter-national Prognostic Scoring System-Revised(IPSS-R)stage(P<0.001)at initial diagnosis.In univariate analysis,the bone marrow blast percentage,hemoglobin level,and IPSS-R stage(specifically the very low-risk and very high-risk groups)at diagnosis were significantly associated with survival(P<0.001,P=0.002,P=0.021,and P=0.028,respective-ly).Multivariable analysis revealed that the only independent factors associated with survival were IPSS-R stage(very high-risk group,P=0.043)and hemoglobin level(P=0.041).Overall survival(OS)and leukemia-free survival(LFS)were significantly longer in the STAG2-negative group compared to the STAG2-positive group(OS:33.21 vs 21.67 months,P<0.001;LFS:36.40 vs 17.79 months,P=0.001).Conclusion:Mutations in the STAG2 gene were associated with a poorer prognosis in patients with myelodysplastic syndromes,particularly in the very high-risk IPSS-R group;similarly,a low hemoglobin level was also linked to worse outcomes.关键词
STAG2/骨髓增生异常综合征/基因突变/生存/预后Key words
STAG2/Myelodysplastic syndrome/Gene mutation/Survival/Prognosis分类
医药卫生引用本文复制引用
Yan Xueqian,Ji Yueru,Liu Li,Qin Weiwei,Chen Yi..伴STAG2基因突变骨髓增生异常综合征患者临床特征及预后分析[J].肿瘤预防与治疗,2025,38(12):1042-1049,8.基金项目
This study was supported by grants from Science and Technology Department of Shaanxi Province(No.2020JQ-460). 陕西省自然科学基础研究计划(编号:2020JQ-460) （No.2020JQ-460）
