CIC基因突变纵隔尤文样肉瘤伴多发骨转移1例报道并文献复习  

CIC gene mutation mediastinal Ewing-like sarcoma with multiple bone metastases:a case report and literature review

作　　者：代贺阳 张丽霞[2] 徐晓飞 陈凌云 薛姣姣 李庆霞[2,4] DAI Heyang;ZHANG Lixia;XU Xiaofei;CHEN Lingyun;XUE Jiaojiao;LI Qingxia(Graduate School,North China University of Science and Technology,Tangshan,Hebei 063210,China;Fourth Department of Oncology,Hebei Provincial People’s Hospital,Shijiazhuang,Hebei 050051,China;Graduate School,Hebei Medical University,Shijiazhuang,Hebei 050051,China;Hebei Medical University,Shijiazhuang,Hebei 050051,China)

机构地区：[1]华北理工大学研究生院,河北唐山063210 [2]河北省人民医院肿瘤四科,石家庄050051 [3]河北医科大学研究生院,石家庄050051 [4]河北医科大学,石家庄050051

出　　处：《重庆医学》2022年第17期2976-2978,2983,共4页Chongqing medicine

基　　金：河北省引进留学人员资助项目(CY201704)。

摘　　要：目的通过对1例Capicua转录抑制因子(CIC)基因突变纵隔尤文样肉瘤伴多发骨转移病例进行分析,总结该疾病的临床特点和相关诊疗方案,以提高对该疾病的认识。方法对1例诊断为CIC基因突变纵隔尤文样肉瘤伴多发骨转移患者的临床资料及相关文献进行回顾性分析。结果患者后期出现低蛋白血症、电解质紊乱,突发心搏骤停,抢救无效死亡。结论早期、个体化治疗该类患者是非常必要的。Objective A case of Capicua transcriptional repressor(CIC)gene mutation mediastinal Ewing-like sarcoma with multiple bone metastases was analyzed,and the clinical characteristics and related diagnosis and treatment scheme of the disease were summarized,to improve the understanding of this disease.Methods The clinical data and related literatures of the patient diagnosed with CIC gene mutation mediastinal Ewing-like sarcoma with multiple bone metastases were retrospectively analyzed.Results The patient later developed hypoproteinemia,electrolyte disorder,sudden cardiac arrest,rescue failed and died.Conclusion It is necessary to treat these patients individually and early.

关 键 词：尤文样肉瘤 纵隔 Capicua转录抑制因子基因 突变 骨转移 程序性死亡配体-1 病例报道 

分 类 号：R734.5[医药卫生—肿瘤]