切换至 "中华医学电子期刊资源库"

中华肺部疾病杂志(电子版) ›› 2026, Vol. 19 ›› Issue (04) : 534 -541. doi: 10.3877/cma.j.issn.1674-6902.2026.04.002

论著

胸部SMARCA4缺失型非小细胞肺癌与SMARCA4缺失型未分化肿瘤的组织病理学特征、影像学表现及预后分析
李春艳1, 郎广碧2, 周亚1, 陈晓龙1,(), 胡明冬3,()   
  1. 1400037 重庆,陆军(第三)军医大学第二附属医院老年医学与特勤医学科
    2408200 重庆,丰都县人民医院感染性疾病科
    3400038 重庆,陆军(第三)军医大学第一附属医院老年医学与特勤医学科
  • 收稿日期:2026-05-27 出版日期:2026-08-25
  • 通信作者: 陈晓龙, 胡明冬
  • 基金资助:
    国家自然科学基金青年项目(32301155)

Clinicopathological features, imaging manifestations and prognostic analysis of thoracic SMARCA4-deficient non-small cell lung cancer and SMARCA4-deficient undifferentiated tumor

Chunyan Li1, Guangbi Lang2, Ya Zhou1, Xiaolong Chen1,(), Mingdong Hu3,()   

  1. 1Department of Geriatrics and Special Military Medicine, The Second Affiliated Hospital of Army Medical University, Chongqing, 400037
    2Department of Infectious Diseases, Fengdu County People′s Hospital , Chongqing, 408200
    3Department of Geriatrics and Special Military Medicine, The First Affiliated Hospital of Army Medical University, Chongqing 400038
  • Received:2026-05-27 Published:2026-08-25
  • Corresponding author: Xiaolong Chen, Mingdong Hu
引用本文:

李春艳, 郎广碧, 周亚, 陈晓龙, 胡明冬. 胸部SMARCA4缺失型非小细胞肺癌与SMARCA4缺失型未分化肿瘤的组织病理学特征、影像学表现及预后分析[J/OL]. 中华肺部疾病杂志(电子版), 2026, 19(04): 534-541.

Chunyan Li, Guangbi Lang, Ya Zhou, Xiaolong Chen, Mingdong Hu. Clinicopathological features, imaging manifestations and prognostic analysis of thoracic SMARCA4-deficient non-small cell lung cancer and SMARCA4-deficient undifferentiated tumor[J/OL]. Chinese Journal of Lung Diseases(Electronic Edition), 2026, 19(04): 534-541.

目的

探讨胸部SMARCA4缺失型非小细胞肺癌(SMARCA4-deficient non-small cell lung cancer, SMARCA4-dNSCLC)及SMARCA4缺失型未分化肿瘤(SMARCA4-deficient undifferentiated tumor, SMARCA4-UT)患者的临床特征、影像学表现、组织病理学特点及治疗预后,以提高对该疾病认识。

方法

回顾性分析2022年11月至2025年4月陆军军医大学第二附属医院收治的37例胸部SMARCA4缺失型肿瘤(SMARCA4-deficient tumor, SMARCA4-DT)患者,将其分为SMARCA4缺失型非小细胞肺癌(SMARCA4-dNSCLC)10例,SMARCA4缺失型未分化肿瘤(SMARCA4-UT)27例,比较患者的性别、年龄,吸烟史,临床症状,东部肿瘤协作组体能状态评分(Eastern Cooperative Oncology Group, ECOG)、肿瘤CT位置、肿瘤大小、肿瘤密度、肿瘤强化均匀度、转移部位、分期、组织病理特征及预后。

结果

与SMARCA4-dNSCLC相比,SMARCA4-UT其肿瘤直径更大、肿瘤密度及强化均匀度极不规则,且临床分期偏晚、纵隔淋巴结转移较常见,Ki-67指数高;整体总生存期(overall survival, OS)短;差异有统计学意义(P<0.05);临床表现、ECOG体能状态评分、远处转移部位差异无统计学意义,(P>0.05);SMARCA4-dNSCLC的组织学形态呈现多种低分化NSCLC形态;SMARCA4-UT的组织学形态分化较差,并失去了上皮癌的形态特征,表现为横纹肌样形态。肿瘤早期以手术为主,晚期则以化疗联合免疫治疗为核心方案,但两类肿瘤总体预后极差,中位总生存期(median overall survival, mOS)均较短。本文SMARCA4-dNSCLC患者的中位生存期为14个月,而SMARCA4-UT的中位生存期为5个月,差异有统计学意义(P<0.05)。

结论

SMARCA4-dNSCLC与SMARCA4-UT均具有高侵袭性、病情进展迅速、预后差的特点,而SMARCA4-UT恶性程度更高、进展更快、预后更差,两者在影像学表现、组织病理学特点及预后方面存在差异,临床可将SMARCA4常规纳入低分化、未分化胸部肿瘤免疫组化检测,早期识别并准确分型对评估病情与指导治疗具有重要临床意义。

Objective

To explore SMARCA4-deficient non-small cell lung cancer in the chest Clinical characteristics, imaging manifestations, histopathological features and treatment prognosis of patients with SMARCA4-dNSCLC and SMARCA4-deficient undifferentiated tumors (SMARCA4-UT) To enhance the understanding of the disease.

Methods

A retrospective analysis was conducted on 37 patients with SMARCA4-deficient tumors (SMARCA4-DT) in the chest admitted to the Second Affiliated Hospital of Army Medical University from November 2022 to April 2025. They were divided into 10 cases of SmarCA4-deletion non-small cell lung cancer (SMARCA4-dNSCLC) and 27 cases of SmarCA4-deletion undifferentiated tumor (SMARCA4-UT). The gender, age, smoking history, clinical symptoms, Eastern Cooperative Oncology Group (ECOG) performance status score, tumor CT location, tumor size, tumor density, uniformity of tumor enhancement, metastasis site, stage, histopathological characteristics and prognosis of the patients were compared.

Results

Compared with SMARCA4-dNSCLC, SMARCA4-UT has a larger tumor diameter, extremely irregular tumor density and enhancement uniformity, a later clinical stage, more common mediastinal lymph node metastasis, and a higher Ki-67 index. The Overall Survival (OS) is short. The difference was statistically significant (P<0.05); There was no statistically significant difference in clinical manifestations, ECOG performance status score, and distant metastasis sites (P>0.05). The histological morphology of SMARCA4-dNSCLC presents various poorly differentiated NSCLC morphologies. The histological morphology of SMARCA4-UT is poorly differentiated and has lost the morphological characteristics of epithelial carcinoma, presenting as rhabdoid morphology. Surgery is the main treatment for early-stage tumors, while chemotherapy combined with immunotherapy is the core regimen for advanced-stage tumors. However, the Overall prognosis of both types of tumors is extremely poor, and the Median Overall Survival (mOS) is relatively short. The median survival period of SMARCA4-dNSCLC patients in this article was 14 months, while that of SMARCA4-UT was 5 months, and the difference was statistically significant (P<0.05).

Conclusion

Both SMARCA4-dNSCLC and SMARCA4-UT have the characteristics of high invasiveness, rapid disease progression and poor prognosis. However, SMARCA4-UT has a higher degree of malignancy, faster progression and worse prognosis. There are differences between the two in terms of imaging manifestations, histopathological features and prognosis. SMARCA4 can be routinely incorporated into the immunohistochemical detection of poorly differentiated and undifferentiated thoracic tumors in clinical practice. Early identification and accurate classification are of great clinical significance for evaluating the condition and guiding treatment.

表1 两者临床特征结果比较[n(%),(±s)]
图1 SMARCA4-dNSCLC与SMARCA4-UT影像学表现;图A为SMARCA4-dNSCLC左肺上叶尖后段见不规则软组织密度影,边缘较多浅分叶(肺窗);图B为SMARCA4-dNSCLC肋骨溶骨性骨质破坏(红色箭头),病灶与邻近左后胸壁肌肉分界不清(纵隔窗);图C为SMARCA4-UT右上肺纵隔旁可见团块状软组织密度影,边缘分叶,轮廓不规整(肺窗);图D为SMARCA4-UT增强扫描不均匀强化(红色箭头),(纵隔窗)
表2 两者影像学特征结果比较[M(P25,P75)/n(%)]
表3 两者的分期、远处转移情况及Ki-67增殖指数比较[n(%)]
图2 SMARCA4-dNSCL与SMARCA4-UT HE染色及免疫组化;图A为SMARCA4-dNSCL肿瘤细胞体积比较大,胞浆丰富,保留上皮样结构;图B为SMARCA4-dNSCL免疫组化示SMARCA4蛋白表达缺失;图C为SMARCA4-UT肿瘤细胞上皮分化极少,呈弥漫成片状分布,细胞之间的黏附性差,部分呈巢状排列,细胞核异型性明显,核仁显著,核分裂象易见,肿瘤生长活跃。(HE染色×200);图D为SMARCA4-UT免疫组化示SMARCA4蛋白表达缺失
图3 两者KaplanMeier生存曲线比较;SMARCA4-dNSCLC为胸部SMARCA4缺失型非小细胞肺癌;SMARCA4-UT为SMARCA4缺失型未分化肿瘤
1
Masliah-Planchon J, Bièche I, Guinebretière JM, et al. SWI/SNF chromatin remodeling and human malignancies[J]. Annu Rev Pathol, 2015, 10: 145-171.
2
Kadoch C, Hargreaves DC, Hodges C, et al. Proteomic and bioinformatic analysis of mammalian SWI/SNF complexes identifies extensive roles in human malignancy[J]. Nat Genet, 2013, 45(6): 592-601.
3
Oike T, Ogiwara H, Nakano T, et al. Inactivating mutations in SWI/SNF chromatin remodeling gene in human cancer[J]. Jpn J Clin Oncol, 2013, 43(9): 849-855.
4
Marquez-Vilendrer SB, Thompson K, Lu L, Reisman D. Mechanism of BRG1 silencing in primary cancers[J]. Oncotarget, 2016, 7(35): 56153-56169.
5
Ramos P, Karnezis AN, Craig DW, et al. Small cell carcinoma of the ovary, hypercalcemic type, displays frequent inactivating germline and somatic mutations in SMARCA4[J]. Nat Genet, 2014, 46(5): 427-429.
6
Kolin DL, Quick CM, Dong F, et al. SMARCA4-deficient uterine sarcoma and undifferentiated endometrial carcinoma are distinct clinicopathologic entities[J]. Am J Surg Pathol, 2020, 44(2): 263-270.
7
Muthuswami R, Bailey L, Rakesh R, et al. BRG1 is a prognostic indicator and a potential therapeutic target for prostate cancer[J]. J Cell Physiol, 2019, 234(9): 15194-15205.
8
Li H, Guo J, Cheng G, et al. Identification and validation of SNP-containing genes with prognostic value in gastric cancer via integrated bioinformatics analysis[J]. Front Oncol, 2021, 11: 564296.
9
Chang B, Sheng W, Wang L, et al. SWI/SNF complex-deficient undifferentiated carcinoma of the gastrointestinal tract: clinicopathologic study of 30 cases with an emphasis on variable morphology, immune features, and the prognostic significance of different SMARCA4 and SMARCA2 subunit deficiencies[J]. Am J Surg Pathol, 2022, 46(7): 889-906.
10
Nicholson AG, Tsao MS, Beasley MB, et al. The 2021 WHO classification of lung tumors: impact of advances since 2015[J]. J Thorac Oncol, 2022, 17 (3): 362-387.
11
Agaimy A, Fuchs F, Moskalev EA, et al. SMARCA4-deficient pulmonary adenocarcinoma: clinicopathological, immunohistochemical, and molecular characteristics of a novel aggressive neoplasm with a consistent TTF1(neg)/CK7(pos)/HepPar-1(pos) immunophenotype[J]. Virchows Arch, 2017, 471(5): 599-609.
12
Dagogo-Jack I, Schrock AB, Kem M, et al. Clinicopathologic characteristics of BRG1-deficient NSCLC[J]. J Thorac Oncol, 2020, 15(5): 766-776.
13
Zhu G, Shi R, Li Y, et al. ARID1A, ARID1B, and ARID2 mutations serve as potential biomarkers for immune checkpoint blockade in patients with non-small cell lung cancer[J]. Front Immunol, 2021, 12: 670040.
14
Bell EH, Chakraborty AR, Mo X, et al. SMARCA4/BRG1 is a novel prognostic biomarker predictive of cisplatin-based chemotherapy outcomes in resected non-small cell lung cancer[J]. Clin Cancer Res, 2016, 22(10): 2396-2404.
15
Liang X, Gao X, Wang F, et al. Clinical characteristics and prognostic analysis of SMARCA4-deficient non-small cell lung cancer[J]. Cancer Med, 2023, 12(13): 14171-14182.
16
Decroix E, Leroy K, Wislez M, et al. SMARCA4-deficient thoracic tumors: A new entity[J]. Bull Cancer, 2020, 107(1): 41-47.
17
Rekhtman N, Montecalvo J, Chang JC, et al. SMARCA4-deficient thoracic sarcomatoid tumors represent primarily smoking-related undifferentiated carcinomas rather than primary thoracic sarcomas[J]. J Thorac Oncol, 2020, 15(2): 231-247.
18
Cooper AJ, Arfe A, Ricciuti B, et al. Brief report: clinical characteristics and outcomes of patients with thoracic SMARCA4-deficient undifferentiated tumors[J]. JTO Clin Res Rep, 2025, 6(1): 100759.
19
Le Loarer F, Watson S, Pierron G, et al. SMARCA4 inactivation defines a group of undifferentiated thoracic malignancies transcriptionally related to BAF-deficient sarcomas[J]. Nat Genet, 2015, 47(10): 1200-1205.
20
Kim JH, Woo JH, Lim CY, et al. SMARCA4-deficient non-small cell lung carcinoma: clinicodemographic, computed tomography, and positron emission tomography-computed tomography features[J]. J Thorac Dis, 2024, 16(3): 1753-1764.
21
Okazaki T, Yokoyama K, Tsuchiya J, et al. SMARCA4-deficient thoracic tumor detected by [(18)F]FDG PET/CT[J]. Eur J Hybrid Imaging, 2021, 5(1): 8.
22
Zhou P, Fu Y, Tang Y, et al. Thoracic SMARCA4-deficient tumors:a clinicopathological analysis of 52 cases with SMARCA4-deficient non-small cell lung cancer and 20 cases with thoracic SMARCA4-deficient undifferentiated tumor[J]. Peer J, 2024, 12: e16923.
23
Ganti AK, Klein AB, Cotarla I, et al. Update of incidence, prevalence,survival, and initial treatment in patients with non-small cell lung cancer in the US[J]. JAMA Oncol, 2021, 7(12): 1824-1832.
24
Zhou P, Fu Y, Tang Y, et al. Thoracic SMARCA4-deficient undifferentiated tumor: a clinicopathological and prognostic analysis of 35 cases and immunotherapy efficacy[J]. Lung Cancer, 2024, 189: 107471.
25
Yoshida A, Kobayashi E, Kubo T, et al. Clinicopathological and molecular characterization of SMARCA4-deficient thoracic sarcomas with comparison to potentially related entities[J]. Mod Pathol, 2017, 30(6): 797-809.
26
Tsao MS, Nicholson AG, Maleszewski JJ, et al. Reprint of "Introduction to 2021 WHO Classification of Thoracic Tumors" [J]. J Thorac Oncol, 2022, 17(3): 337-340.
27
杨攀,黄晓寒,邓才霞,等. SMARCA4缺失的胸部未分化肿瘤临床特征及预后分析[J/OL]. 中华肺部疾病杂志(电子版), 2024, 17(4): 529-534.
28
Nambirajan A, Singh V, Bhardwaj N, et al. SMARCA4/BRG1-deficient non-small cell lung carcinomas: a case series and review of the literature[J]. Arch Pathol Lab Med, 2021, 145(1): 90-98.
29
Jiang J, Chen Z, Gong J, et al. Thoracic SMARCA4-deficient undifferentiated tumor[J]. Discov Oncol, 2023, 14(1): 51.
30
Luo J, Ding B, Campisi A, et al. Molecular, clinicopathological characteristics and surgical results of resectable SMARCA4-deficient thoracic tumors[J]. J Cancer Res Clin Oncol, 2023, 149(8): 4455-4463.
31
Longo V, Catino A, Montrone M, et al. Treatment of thoracic SMARCA4-deficient undifferentiated tumors: where we are and where we will Go[J]. Int J Mol Sci, 2024, 25(6): 3237.
32
Anžic N, Krasniqi F, Eberhardt AL, et al. Ipilimumab and pembrolizumab mixed response in a 41-year-old patient with SMARCA4-deficient thoracic sarcoma: an interdisciplinary case study[J]. Case Rep Oncol, 2021, 14(2): 706-715.
33
Xue Y, Meehan B, Fu Z, et al. SMARCA4 loss is synthetic lethal with CDK4/6 inhibition in non-small cell lung cancer[J]. Nat Commun, 2019, 10 (1): 557.
34
Tagal V, Wei S, Zhang W, et al. SMARCA4-inactivating mutations increase sensitivity to aurora kinase a inhibitor VX-680 in non-small cell lung cancers[J]. Nat Commun, 2017, 8: 14098.
35
Chan-Penebre E, Armstrong K, Drew A, et al. Selective killing of SMARCA2-and SMARCA4-deficient small cell carcinoma of the ovary, hypercalcemic type cells by inhibition of EZH2: in vitro and in vivo preclinical models[J]. Mol Cancer Ther, 2017, 16(5): 850-860.
[1] 江伟东, 陈博. 早发性可切除胃癌的临床病理特征及预后列线图模型的建立[J/OL]. 中华普通外科学文献(电子版), 2026, 20(04): 230-237.
[2] 张彬, 王敏, 郑鹏, 冯犁, 李鑫, 赵高平. 早期胃癌淋巴结转移的危险因素及预后分析[J/OL]. 中华普外科手术学杂志(电子版), 2026, 20(04): 337-342.
[3] 李若隐, 罗义, 张雪琳, 雷李凤, 李思丽. MDSCs相关基因在乳腺癌中表达特征分析与风险预测模型构建[J/OL]. 中华普外科手术学杂志(电子版), 2026, 20(04): 366-373.
[4] 付丽坤, 崔红梅, 高福来, 乔红, 冯钟煦. 腹腔镜下胆总管探查“T”管引流术与经胆囊管胆总管探查取石术治疗继发性胆总管结石的疗效对比[J/OL]. 中华普外科手术学杂志(电子版), 2026, 20(03): 226-230.
[5] 辛林璞, 杨敏, 杜峻峰. 腹腔镜结直肠癌根治术后常见并发症防治与管理[J/OL]. 中华普外科手术学杂志(电子版), 2026, 20(03): 248-251.
[6] 杨静, 王华芬, 卢芳燕, 董丽, 蓝蕾. 术前营养状况对儿童肝移植术后早期临床结局的影响[J/OL]. 中华移植杂志(电子版), 2026, 20(03): 174-179.
[7] 谢琴芬, 王硕, 杨煜, 郑树森. 慢加急性肝衰竭肝移植的时机选择及预后因素探讨[J/OL]. 中华移植杂志(电子版), 2026, 20(03): 201-210.
[8] 李旭柯, 熊培尧, 杨子良, 敖玉凤, 徐立. 肿瘤包绕型血管在接受仑伐替尼治疗肝癌患者生存预后中的预测价值[J/OL]. 中华肝脏外科手术学电子杂志, 2026, 15(03): 346-354.
[9] 王浩, 辛才进, 崔静, 傅鹤鑫, 朱长仁, 汪刘华. 错配修复蛋白在早发性结直肠癌中的表达及意义[J/OL]. 中华结直肠疾病电子杂志, 2026, 15(03): 209-214.
[10] 中国研究型医院学会放射学专业委员会, 上海抗癌协会实体肿瘤聚焦诊疗专业委员会. 血管包裹肿瘤簇在肝细胞癌影像诊疗中的临床应用专家共识(2026年版)[J/OL]. 中华消化病与影像杂志(电子版), 2026, 16(03): 193-198.
[11] 齐洪武, 徐泽雨. 脑脓肿的临床诊治进展[J/OL]. 中华临床医师杂志(电子版), 2026, 20(04): 327-331.
[12] 胡伟铭, 陈为谦, 林桂涵, 陈炜越, 胡展宁, 马成, 纪建松. 人工智能在冠心病介入治疗及预后评估中的应用[J/OL]. 中华介入放射学电子杂志, 2026, 14(03): 243-249.
[13] 柳云鹏, 贾建文, 黄菊梅, 汪阳. 早期血压变异性对大血管闭塞性急性缺血性脑卒中术后神经功能恢复的影响[J/OL]. 中华脑血管病杂志(电子版), 2026, 20(03): 274-279.
[14] 吴嶛, 蔡诗昆, 左鹏, 倪贵华, 倪小宇. 急性缺血性脑卒中机械取栓前血栓迁移与临床资料的相关性[J/OL]. 中华脑血管病杂志(电子版), 2026, 20(03): 287-293.
[15] 梁怡凡, 牟婧宇, 吴雅婷, 邳靖陶, 陈乐, 武剑. 不同人工智能模型预测脑卒中不良预后诊断效能的荟萃分析[J/OL]. 中华脑血管病杂志(电子版), 2026, 20(03): 308-319.
阅读次数
全文


摘要


AI


AI小编
你好!我是《中华医学电子期刊资源库》AI小编,有什么可以帮您的吗?