[1]卢山,谌海燕,唐旭东,等.骨髓增生异常综合征合并冠心病与特定体细胞突变及并发心血管疾病风险的关系[J].陕西医学杂志,2026,(6):781-787,793.[doi:DOI:10.3969/j.issn.1000-7377.2026.06.010]
 LU Shan,CHEN Haiyan,TANG Xudong,et al.Relationship between MDS complicated with CHD and specific somatic mutations and risk of concurrent cardiovascular diseases[J].,2026,(6):781-787,793.[doi:DOI:10.3969/j.issn.1000-7377.2026.06.010]
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骨髓增生异常综合征合并冠心病与特定体细胞突变及并发心血管疾病风险的关系

《陕西医学杂志》[ISSN:1000-7377/CN:61-1281/TN]

卷:
期数:
2026年6期
页码:
781-787,793
栏目:
临床研究
出版日期:
2026-06-05

文章信息/Info

Title:
Relationship between MDS complicated with CHD and specific somatic mutations and risk of concurrent cardiovascular diseases
作者:
卢山12谌海燕1唐旭东3叶芳4李宁宁4王文儒1郭明1刘军霞1丁晓庆1李玲1廖俊尧1廖婧1
(1.北京中医药大学东方医院,北京 100078;2.北京中医药大学,北京 100029;3.中国中医科学院西苑医院,北京 100091;4.北京市垂杨柳医院,北京 100022)
Author(s):
LU Shan12CHEN Haiyan1TANG Xudong3YE Fang4LI Ningning4WANG Wenru1GUO Ming1LIU Junxia1DING Xiaoqing1LI Ling1LIAO Junyao1LIAO
(1.Dongfang Hospital,Beijing University of Chinese Medicine,Beijing 100078,China;2.Beijing University of Chinese Medicine,Beijing 100029,China;3.Xiyuan Hospital,China Academy of Chinese Medical Sciences,Beijing 100091,China;4.Beijing Chuiyangliu Hospital,Beijing 100022,China)
关键词:
骨髓增生异常综合征冠状动脉粥样硬化性心脏病体细胞突变心血管疾病SF3B1TP53
Keywords:
Myelodysplastic syndromeCoronary heart diseaseSomatic mutationCardiovascular diseaseSF3B1TP53
分类号:
R 551.3
DOI:
DOI:10.3969/j.issn.1000-7377.2026.06.010
文献标志码:
A
摘要:
目的:探索骨髓增生异常综合征(MDS)合并冠状动脉粥样硬化性心脏病(CHD)与特定体细胞突变及并发心血管疾病风险的关系。方法:回顾性收集160例MDS患者的病历资料,对其随访至终点事件发生或2025年08月31日,然后根据是否合并CHD分为CHD组(44例)和对照组(116例)。使用多因素Logistic回归分析SF3B1/TP53共突变与CHD的关系,并使用敏感性分析以检验结果的稳健性。采用Fine-Gray竞争风险模型分析是否合并CHD及有无SF3B1/TP53共突变与新发心血管疾病的关联。结果:与对照组比较,SF3B1/TP53共突变在CHD组占比更多,经FDR校正后差异仍具有统计学意义(P<0.05)。在探讨SF3B1/TP53共突变与MDS患者CHD关联的多因素 Logistic 回归分析中,在模型1中发现SF3B1/TP53共突变与MDS患者CHD发生有关(P<0.05);在模型2中,校正更多混杂因素后,SF3B1/TP53共突变仍与MDS患者CHD发生强相关(P<0.05)。在Fine-Gray竞争风险模型分析中发现,有CHD合并症的MDS患者新发心血管疾病的风险高于无CHD合并症患者(P<0.05)。结论:SF3B1/TP53共突变与MDS患者CHD发生有关,有CHD合并症的MDS患者新发心血管疾病的风险更高。
Abstract:
Objective:To explore the relationship between myelodysplastic syndrome(MDS) complicated with coronary heart disease(CHD) and specific somatic mutations,and the risk of concurrent cardiovascular disease.Methods:A retrospective review of medical records was conducted for 160 patients with MDS.Patients were followed until the occurrence of an endpoint event or August 31,2025.Based on the presence of concomitant CHD,they were divided into a CHD group(n=44) and a control group(n=116).Multivariate Logistic regression was used to analyze the relationship between SF3B1/TP53 co-mutation and CHD,and sensitivity analysis was used to test the robustness of the results.The Fine-Gray competitive risk model was used to analyze the association of CHD and SF3B1/TP53 co-mutation with new-onset cardiovascular disease.Results:Compared with the control group,SF3B1/TP53 co-mutations accounted for more in the CHD group,and the difference was still statistically significant after FDR correction (P<0.05).In the multivariate Logistic regression analysis of the association between SF3B1/TP53 co-mutation and CHD in MDS patients,it was found in model 1 that SF3B1 with TP53 mutation was associated with CHD in MDS patients (P<0.05);in model 2,after adjusting for more confounding factors,SF3B1 with TP53 mutation was still strongly associated withCHD in MDS patients (P<0.05).In the analysis of the Fine-Gray competitive risk model,it was found that the risk of new cardiovascular disease in MDS patients with CHD was higher than that in patients without CHD(P<0.05).Conclusion:SF3B1/TP53 co-mutation is related to the occurrence of CHD in MDS patients.MDS patients with CHD complications have a higher risk of new cardiovascular diseases.

参考文献/References:

[1]马丽丽,付长江.存活素和细胞周期素依赖性蛋白激酶抑制因子2B在骨髓增生异常综合征诊断及患者预后评估中的临床价值研究[J].陕西医学杂志,2024,53(3):348-351,356.[2]王美佳,刘虹伶,曾依伶.地西他滨联合HA方案治疗骨髓增生异常综合征疗效及安全性研究[J].陕西医学杂志,2023,52(12):1731-1734.[3]DELLA PORTA M G,MALCOVATI L,STRUPP C,et al.Risk stratification based on both disease status and extra-hematologic comorbidities in patients with myelodysplastic syndrome[J].Haematologica,2011,96(3):441-449.[4]PRONK E,RAAIJMAKERS M.The mesenchymal niche in MDS[J].Blood,2019,133(10):1031-1038.[5]STEENSMA D P,BEJAR R,JAISWAL S,et al.Clonal hematopoiesis of indeterminate potential and its distinction from myelodysplastic syndromes[J].Blood,2015,126(1):9-16.[6]ADRIANZEN HERRERA D,PRADHAN K,SNYDER R,et al.Myelodysplastic syndromes and the risk of cardiovascular disease in older adults:A SEER-medicare analysis[J].Leukemia,2020,34(6):1689-1693.[7]MARNELL C S,BICK A,NATARAJAN P.Clonal hematopoiesis of indeterminate potential(CHIP):Linking somatic mutations,hematopoiesis,chronic inflammation and cardiovascular disease[J].J Mol Cell Cardiol,2021,161:98-105.[8]GUMUSER E D,SCHUERMANS A,CHO S M J,et al.Clonal hematopoiesis of indeterminate potential predicts adverse outcomes in patients with atherosclerotic cardiovascular disease[J].J Am Coll Cardiol,2023,81(20):1996-2009.[9]VALENT P,HORNY H P,BENNETT J M,et al.Definitions and standards in the diagnosis and treatment of the myelodysplastic syndromes:Consensus statements and report from a working conference[J].Leuk Res,2007,31(6):727-736.[10]LEVINE G N,BATES E R,BITTL J A,et al.2016 ACC/AHA guideline focused update on duration of dual antiplatelet therapy in patients with coronary artery disease:A report of the American College of Cardiology/American Heart Association Task Force on clinical practice guidelines[J].J Am Coll Cardiol,2016,68(10):1082-1115.[11]ARBER D A,ORAZI A,HASSERJIAN R,et al.The 2016 revision to the world health organization classification of myeloid neoplasms and acute leukemia[J].Blood,2016,127(20):2391-2405.[12]GREENBERG P L,TUECHLER H,SCHANZ J,et al.Revised international prognostic scoring system for myelodysplastic syndromes[J].Blood,2012,120(12):2454-2465.[13]LIAPIS K,VRACHIOLIAS G,PAPADOPOULOS V,et al.Risk factors for cardiovascular disease mortality in patients with myelodysplastic syndromes:A nationwide,registry-based cohort study[J].EJHaem,2020,1(1):255-261.[14]AOKI H,SUZUKI Y,KANEKO H,et al.Myelodysplastic syndromes and incident cardiovascular disease:A nationwide,real-world cohort study[J].Can J Cardiol,2025,11:S0828-282X(25)01397-2 .[15]JAISWAL S,FONTANILLAS P,FLANNICK J,et al.Age-related clonal hematopoiesis associated with adverse outcomes[J].N Engl J Med,2014,371(26):2488-2498.[16]HEYDE A,ROHDE D,MCALPINE C S,et al.Increased stem cell proliferation in atherosclerosis accelerates clonal hematopoiesis[J].Cell,2021,184(5):1348-1361.e22.[17]ZEKAVAT S M,VIANA-HUETE V,MATESANZ N,et al.TP53-mediated clonal hematopoiesis confers increased risk for incident atherosclerotic disease[J].Nat Cardiovasc Res,2023,2:144-158.[18]FUSTER J J,MACLAUCHLAN S,ZURIAGA M A,et al.Clonal hematopoiesis associated with TET2 deficiency accelerates atherosclerosis development in mice[J].Science,2017,355(6327):842-847.[19]BICK A G,WEINSTOCK J S,NANDAKUMAR S K,et al.Inherited causes of clonal haematopoiesis in 97691 whole genomes[J].Nature,2020,586(7831):763-768.[20]POLLYEA D A,HARRIS C,RABE J L,et al.Myelodysplastic syndrome-associated spliceosome gene mutations enhance innate immune signaling[J].Haematologica,2019,104(9):e388-e392.[21]TANG J,MA M,LIU F,et al.MiR-148a-3p mitigation of coronary artery disease through PCSK9/NF-κB inhibition of vascular endothelial cell injury[J].J Biochem Mol Toxicol,2024,38(11):e70011.[22]POLLYEA D A,KIM H M,STEVENS B M,et al.MDS-associated SF3B1 mutations enhance proinflammatory gene expression in patient blast cells[J].J Leukoc Biol,2021,110(1):197-205.[23]SIMARD J C,CESARO A,CHAPETON-MONTES J,et al.S100A8 and S100A9 induce cytokine expression and regulate the NLRP3 inflammasome via ROS-dependent activation of NF-κB(1.)[J].PLoS One,2013,8(8):e72138.[24]DINARELLO C A.A clinical perspective of IL-1β as the gatekeeper of inflammation[J].Eur J Immunol,2011,41(5):1203-1217.[25]CASTELLI R,SCHIAVON R,ROSSI V,et al.Management of anemia in low-risk myelodysplastic syndromes treated with erythropoiesis-stimulating agents newer and older agents[J].Med Oncol,2018,35(5):76.[26]OREN O,SMALL A M,LIN A E,et al.Managing cardiovascular risk in clonal hematopoiesis of indeterminate potential:JACC cardiooncology short-form primer[J].JACC Cardio Oncol,2025,7(5):496-500.[27]RIDKER P M,EVERETT B M,THUREN T,et al.Antiinflammatory therapy with canakinumab for atherosclerotic disease[J].N Engl J Med,2017,377(12):1119-1131.[28]SCHNEIDER M,ROLFS C,TRUMPP M,et al.Activation of distinct inflammatory pathways in subgroups of LR-MDS[J].Leukemia,2023,37(8):1709-1718.

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备注/Memo

备注/Memo:
国家自然科学基金资助项目(82274502);北京中医药大学揭榜挂帅项目(2024-JYB-JBZD-001)
更新日期/Last Update: 2026-06-05