肺睾丸核蛋白中线癌合并多发转移1例报告并文献复习  

One case report of lung nuclear protein of the testis midline carcinoma with multiple metastases and literature review

作　　者：赵迪 于大海 ZHAO Di;YU Dahai(Department of Radiotherapy,Affiliated Hospital of Nanjing University of Chinese Medicine/Jiangsu Provincial Hospital of Traditional Chinese Medicine,Jiangsu Nanjing 211102,China)

机构地区：[1]南京中医药大学附属医院/江苏省中医院放射治疗科,江苏南京211102

出　　处：《现代肿瘤医学》2025年第5期815-821,共7页Journal of Modern Oncology

摘　　要：目的:报道收治一例肺睾丸核蛋白(nuclear protein of the testis,NUT)中线癌合并多发转移患者,综合阐述肺NUT癌基本特征、目前研究进展及其预后。方法:报道一名中老年女性NUT癌患者,包括临床一般资料、肺穿刺活检、增强CT、PET/CT、MR、免疫组化和基因检测;通过37例肺NUT癌文献复习阐述人口统计学、临床和肿瘤特征,Kaplan-Meier生存曲线分析BRD4-NUT预后。结果:患者胸腹部增强CT见右肺下叶肿块影;PET/CT进一步考虑右下肺癌伴多发淋巴结、肝转移及弥漫性骨转移;MR考虑脑转移;穿刺活检免疫组化结果:肿瘤瘤细胞示:NUT(+)、kit(+)、CK5/6(+)、p63(+)、p40(局部+)、Ki67(35%+)、p53(70%+)、FISH(+)。基因检测结果示:NUTM1基因:BAD3-WUTIM1融合,突变型:BRD3:exon10~NUTM1:exon3,NUTM1~IGR融合,突变型NUTM1:exon2~IGR。BRD4-NUT癌2个月生存HR为22.22%(95%CI:9.36%~52.74%)。结论:我们结合临床、病理、分子改变及影像学资料,报道与传统好发人群相违背的中老年女性BRD3及EOR2基因重排NUT癌病例,在肺NUT癌传统诊断手段中进一步通过PET/CT发现其全身多发转移,并通过FISH法和基因检测丰富肺NUT癌诊断以避免误诊漏诊,同时通过文献复习及K-M生存曲线证明肺NUT癌预后极差,为后续全面诊断及尽早治疗提供依据。Objective:To report the treatment of a patient with lung nuclear protein of the testis(NUT)midline carcinoma combined with multiple metastase,and to comprehensively elaborate on the basic characteristics,current research progress and prognosis of lung NUT carcinoma.Methods:We reported a middle-aged and elderly female patient with NUT cancer,including general clinical data,as well as lung puncture biopsy,enhanced CT,PET/CT,MR,immunohistochemistry,and genetic testing.The demographic,clinical,and tumour characteristics were elaborated through a literature review of 37 lung NUT cancers,and BRD4-NUT prognosis was analysed through Kaplan-Meier survival curves.Results:The patient's thoracic and abdominal enhanced CT showed a mass shadow in the lower lobe of the right lung.PET/CT further considered right lower lung carcinoma with multiple lymph nodes,liver metastasis and diffuse bone metastasis.MR considered brain metastasis.Immunohistochemical results of the puncture biopsy showed tumour tumour cells with NUT(+),kit(+),CK5/6(+),p63(+),p40(locally+),Ki67(35%+),p53(70%+),FISH(+).Genetic testing results showed NUTM1 gene:BAD3-WUTIM1 fusion,mutant type:BRD3:exon10~NUTM1:exon3,NUTM1~IGR fusion,mutant type NUTM1:exon2~IGR.2-months survival HR was 22.22%,(95%CI:9.36%~52.74%)for BRD4-NUT cancer.Conclusion:We combined clinical,pathological,molecular alterations and imaging data to report cases of BRD3 and EOR2 gene rearrangement NUT carcinoma in middle-aged and elderly females who were contrary to the traditional favoured populations,and further detected systemic multiple metastases of lung NUT carcinoma by PET/CT among the traditional diagnostic means of lung NUT carcinoma and enriched the diagnosis of lung NUT carcinoma to avoid misdiagnosis and underdiagnosis by the FISH method and genetic testing,and by the meanwhile,the literature review and K-M survival curve proved that the prognosis of lung NUT cancer was extremely poor,which provided the basis for subsequent comprehensive diagnosis and early treatment.

关 键 词：肺睾丸核蛋白中线癌 BRD3-NUT EOR2-NUT 基因 

分 类 号：R737.21[医药卫生—肿瘤]