SMARCA4缺失的非小细胞肺癌的临床病理特征  

Clinicopathological features of SMARCA4-deficient non-small cell lung cancer

作　　者：赵艳[1] 练亿香[1] 朱德茂[1] 罗海军[1] 申月明[1] ZHAO Yan;LIAN Yixiang;ZHU Demao;LUO Haijun;SHEN Yueming(Department of Pathology,Changsha Central Hospital,Changsha 410004,China)

机构地区：[1]长沙市中心医院病理科,长沙410004

出　　处：《临床与病理杂志》2023年第5期873-879,共7页Journal of Clinical and Pathological Research

基　　金：湖南省科技创新计划项目(2020SK53306)。

摘　　要：目的:研究非小细胞肺癌(non‑small cell lung cancer,NSCLC)中SWI/SNF相关、基质相关的肌动蛋白依赖的染色质调节因子亚家族a成员4(SWI/SNF related,matrix associated,actin dependent regulator of chromatin,subfamily a,member 4,SMARCA4)的缺失,并阐明SMARCA4缺失的NSCLC的临床病理特征。方法:收集2018年1月至2022年5月长沙市中心医院的500例NSCLC石蜡样本,采用SMARCA4抗体进行免疫组织化学筛查,并收集SMARCA4缺失的18例患者临床资料、治疗、预后,总结组织学形态、免疫组织化学特征,并分析其基因谱改变。结果:在500例NSCLC样本中,18例(3.6%)显示SMARCA4缺失。18例患者均为男性,均有长期吸烟史,年龄49~77(中位年龄65)岁,13例出现远处转移(M1)。组织学检查显示9例为实性腺癌,5例呈肉瘤样癌、横纹肌样形态,4例可见肿瘤细胞排列呈腺泡型、乳头型及复杂腺体型。其中1例为腺鳞癌,鳞癌呈低分化形态。免疫组织化学示18例转录终止因子1(transcription termination factor 1,TTF-1)、NapainA均呈阴性;17例P40阴性,1例阳性;17例细胞角蛋白7(cytokeratin 7,CK7)阳性,1例阴性,但AE1/AE3呈阳性表达。18例CD56、CgA均阴性,2例局灶表达Syn;18例均显示SMARCB1(INI1)阳性、人类婆罗双树样基因4(spaltlike transcription factor 4,SALL4)阴性,17例SMARCA2(BRM)阳性,1例阴性;13例HepPar-1呈阳性表达,SOX-2在15例中阴性,3例局灶阳性表达。13例P53呈突变型表达。18例患者均行二代测序(next-generation sequencing,NGS)基因检测,均未检测到表皮生长因子受体(epidermal growth factor receptor,EGFR)、B-Raf原癌基因丝氨酸/苏氨酸蛋白激酶(B-Raf proto-oncogene,serine/threonine kinase,BRAF)基因突变,间变性淋巴瘤激酶(anaplastic lymphoma kinase,ALK)、c-ros肉瘤致癌因子-受体酪氨酸激酶(ROS proto-oncogene 1,receptor tyrosine kinase,ROS1)基因重排,6例发现有Kirsten大鼠肉瘤病毒癌基因同源物(Kirsten ratsarcoma viral oncogene homolog,KRAS)基�Objective:To investigate the loss of SWI/SNF related,matrix associated,actin dependent regulator of chromatin,subfamily a,member 4(SMARCA4)in non-small cell lung cancer(NSCLC),and to elucidate the clinicopathological features of SMARCA4-deficient NSCLC.Methods:A total of 500 NSCLC patients in Changsha Central Hospital were collected from January 2018 to May 2022,immunohistochemical screening was performed with SMARCA4 antibody,clinical data,treatment,and the prognosis of 18 patients with SMARCA4 deficiency were collected,and histological morphology,immunohistochemical characteristics,and gene profile changes were summarized.Results:SMARCA4-deficiency was found in 18(3.6%)of the 500 NSCLCS tested.All 18 patients were male,with a long history of smoking,aged 49 to 77 years(median age 65 years),and 13 patients had developed distant metastasis(M1).Histological examination showed solid adenocarcinoma in 9 cases,sarcomatoid carcinoma and rhabdoid carcinoma in 5 cases,and acinar type,papillary type,and complex glandular shape in 4 cases.Among them,1 case was adenosquamous carcinoma,which was poorly differentiated.Immunohistochemistry of 18 cases was negative for transcription termination factor 1(TTF-1)and NapainA.P40 was negative in 17 cases and positive in 1 case;17 cases expressed cytokeratin 7(CK7),1 case was negative for CK7,but positive for AE1/AE3.All 18 cases were negative for CD56 and CgA,and 2 cases expressed focal Syn;all 18 cases showed positive SMARCB1(INI1)and negative spalt-like transcription factor 4(SALL4)expression,17 cases showed positive SMARCA2 expression and 1 case was negative;Heppar-1 was positive in 13 cases,SOX-2 was negative in 15 cases and focally positive in 3 cases;13 cases showed mutant P53 expression.All patients(18 cases)underwent next generation sequencing(NGS)gene detection,and no epidermal growth factor receptor(EGFR),recombinant B-Raf proto oncogene serine/threonine protein kinase(BRAF)gene mutation,anaplastic lymphoma kinase(ALK),ROS proto-oncogene 1,receptor tyrosine kinase(ROS1)ge

关 键 词：SMARCA4 缺失 非小细胞肺癌 

分 类 号：R734.2[医药卫生—肿瘤]