5例SMARCA4缺失性非小细胞肺癌细胞病理特征并文献复习  

Cytopathological features of 5 cases of SMARCA4-deficient non-small cell lung cancer and literature review

作　　者：华芬 陈颖婷 王更芳[1] 周晓莉[1] 程羽青[1] HUA Fen;CHEN Yingting;WANG Gengfang;ZHOU Xiaoli;CHENG Yuqing(Department of Pathology,Third Affiliated Hospital of Nanjing Medical University/Changzhou Second People’s Hospital,Changzhou Jiangsu 213161,China)

机构地区：[1]南京医科大学第三附属医院,常州市第二人民医院病理科,江苏常州213161

出　　处：《临床与病理杂志》2024年第9期1295-1303,共9页Journal of Clinical and Pathological Research

基　　金：常州市“十四五”卫生健康高层次人才培养工程(2022CZBJ079);常州市科技局社会发展项目(CE20235064)。

摘　　要：目的:探讨SMARCA4缺失性非小细胞肺癌(SMARCA4-deficient non-small cell lung cancer,SMARCA4-dNSCLC)的临床病理特点。方法:收集南京医科大学第三附属医院2017年1月至2024年6月共5例SMARCA4-dNSCLC患者的临床资料,对其细胞学和组织学形态、免疫组织化学结果、分子病理特点、治疗及预后进行回顾性分析,并复习相关文献。结果:5例SMARCA4-dNSCLC患者中,3例为无明确分化的低分化癌,2例为腺癌;肿瘤细胞呈腺样分化、鳞状分化、神经内分泌分化或无分化。1例肿瘤细胞胞质极少,大部分为裸核;1例肿瘤细胞胞质嗜酸性;2例肿瘤细胞胞质丰富细腻;1例胞质空泡化;细胞核具多形性,呈圆形、椭圆形或不规则形,核偏位居多,核染色质粗糙,3例可见核仁。3例可见双核或多核巨细胞。3例背景可见坏死及核分裂。免疫组织化学显示细胞角蛋白(cytokeratin,CK)(3/3)或CK7(3/3)阳性,甲状腺转录因子-1(thyroid transcription factor-1,TTF-1)阳性(1/5),各有1例天冬氨酸肽酶A(aspartate peptidase A,NapsinA)和突触素(synaptophysin,Syn)弱阳性。所有病例Brahma相关基因1(Brahma-related gene 1,BRG1)表达缺失,P40及P63均阴性,整合酶相互作用分子1(integrase interactor-1,INI1)正常表达。表皮生长因子受体(epidermal growth factor receptor,EGFR)(0/3)、间变性淋巴瘤激酶(anaplastic lymphoma kinase,ALK)(0/4)、Kristen大鼠肉瘤病毒癌基因同源物(Kirsten rats arcomaviral oncogene homolog,KRAS)(0/3)未检测到基因突变。截至2024年6月,3例患者死亡,2例患者存活,生存期5~32个月。结论:SMARCA4-dNSCLC是一类罕见的高侵袭性肺癌,BRG1免疫组织化学有助于避免漏诊。Objective:This study aims to investigate the clinicopathological features of SMARCA4-deficient non-small cell lung cancer(SMARCA4-dNSCLC).Methods:Clinical data were collected from 5 patients with SMARCA4-dNSCLC diagnosed at the Third Affiliated Hospital of Nanjing Medical University between January 2017 and June.Cytological and histological morphology,immunohistochemical results,molecular pathology characteristics,treatments,and outcomes were retrospectively analyzed,and relevant literature was reviewed.Results:Among the 5 cases,3 were poorly differentiated carcinomas with no clear differentiation,and 2 were adenocarcinomas.Tumor cells exhibited glandular,squamous,neuroendocrine differentiation,or lacked differentiation.One case showed tumor cells with minimal cytoplasm,predominantly bare nuclei,one showed eosinophilic cytoplasm;two had cells with abundant and fine cytoplasm;and one had vacuolated cytoplasm.Nuclei were polymorphic,round,oval,or irregular,mostly eccentric,with coarse chromatin.Binucleated or multinucleated giant cells were present in 3 cases.Necrosis and mitosis were observed in the background of 3 cases.Immunohistochemical analysis showed positivity for cytokeratin(CK)(3/3)or CK7(3/3),thyroid transcription factor-1(TTF-1)(1/5),and weak positivity for aspartate peptidase A(NapsinA)and synaptophysin(Syn)in 1 case each.All cases showed loss of Brahma-related gene 1(BRG1)expression.P40 and P63 were negative,while integrase interactor-1(INI1)showed normal expression.No mutations were detected in epidermal growth factor receptor(EGFR)(0/3),anaplastic lymphoma kinase(ALK)(0/4),or Kirsten rat sarcoma viral oncogene homolog(KRAS)(0/3).As of June 2024,3 patients had died,and two remained alive,with survival time ranging from 5 to 32 months.Conclusion:SMARCA4-dNSCLC is a rare,highly aggressive lung cancer.Immunohistochemistry for BRG1 is crucial for accurate diagnosis and preventing missed diagnose.

关 键 词：交配型转换/蔗糖不发酵复合物相关、基质相关、依赖肌动蛋白调节染色质的A亚家族成员4 非小细胞肺癌 细胞诊断学 免疫组织化学 腺癌 

分 类 号：R73[医药卫生—肿瘤]