肺动脉肉瘤的临床特征及致病基因的分析  

An analysis of clinical and genetic feature in pulmonary artery sarcoma

作　　者：江倩[1] 颜涵 黄畅 马冉 张晨婷[1] 杨凯[1] 王健[1] 刘春丽[1] Jiang Qian;Yan Han;Huang Chang;Ma Ran;Zhang Chenting;Yang Kai;Wang Jian;Liu Chunli(State Key Laboratory of Respiratory Diseases,National Clinical Research Center for Respiratory Diseases,National Center for Respiratory Medicine,Department of Pulmonary and Critial Care Medicine,Guangzhou Institute of Respiratory Health,The First Affiliated Hospital of Guangzhou Medical University,Guangzhou 510120,China)

机构地区：[1]广州医科大学附属第一医院呼吸与危重症医学科、广州呼吸健康研究院、呼吸疾病全国重点实验室/国家呼吸系统疾病临床医学研究中心/国家呼吸医学中心、广州医科大学,广州510120

出　　处：《中华结核和呼吸杂志》2025年第3期256-260,共5页Chinese Journal of Tuberculosis and Respiratory Diseases

基　　金：广州市科技局重点研发项目(2023B03J1387);广州实验室专项项目(GZNL2023A02013);广州医科大学科研能力提升计划(JQ-2023);呼吸疾病全国重点实验室自主课题(SKLRD-Z-202513)。

摘　　要：目的分析肺动脉肉瘤(PAS)患者的临床、影像、病理特征及致病基因特征,研究PAS的病因及其与其他肺血管疾病的关系,提高对疾病的认识水平。方法单中心回顾性分析2015年1月至2021年1月于广州医科大学附属第一医院治疗的13例PAS病例的临床特征。对其中8例患者的手术后病理组织标本进行全外显子组测序(WES)检测,分析其致病基因特征。结果PAS患者年龄为26~67(43.2±11.6)岁,从出现症状到确诊的中位时间为8个月(IQR为3.0,11.5),PAS最常见的症状为气促(84.6%),最常见的合并症是肺动脉高压(69.2%)。通过分析发现5个PAS患者特定变异基因,将PAS相关的基因特征与肺栓塞(PE)、肺动脉高压(PAH)和肺癌(LC)患者的基因特征进行比较发现,PAS与LC有一定遗传相似性。KEGG分析显示,PAS变异基因大多属于癌症富集信号通路。结论PAS是一类位于肺血管主干的恶性肿瘤,预后差,其临床表现无明显特异性。其发生可能与MDM2、PIK3CA、TP53等基因变异相关。Objective To retrospectively analyze the clinical,imaging,pathological and genetic features in patients with pulmonary artery sarcoma(PAS)in a single center,and to investigate the disease origin of PAS,as well as its relationship with other pulmonary vascular diseases.Methods We retrospectively identified and analyzed clinical features of 13 cases with PAS those were admitted in the First Affiliated Hospital of Guangzhou Medical University between January 2015 and January 2021.Whole exome sequencing(WES)was performed to further analyze their genetic characteristics in 8 postoperative specimens.Results The average age of PAS patients was 26-67(43.2±11.6)years,and the median time from symptom to diagnosis was 8 months(IQR:3,11.5).The most common symptom of PAS was shortness of breath(84.6%),and the most common complication was pulmonary hypertension(69.2%).A total of 5 genes with specific mutations in PAS patients were identified by genomic analysis.Compared with genetic features of pulmonary embolism(PE),pulmonary arterial hypertension(PAH)and lung cancer(LC),we found genetic similarity between PAS and LC.Using KEEG database,we identified that most of the PAS-mutated genes belonged to cancer-enriched signaling pathways.Conclusions PAS is a kind of malignant tumor located in the pulmonary vascular trunk,without a good prognosis and specific clinical manifstations.The occurrence of PAS may be associathed with mutations of MDM2,PIK3CA and TP53.

关 键 词：血管肉瘤 肺动脉 临床特征 全外显子测序 致病基因 

分 类 号：R73[医药卫生—肿瘤]