Case Report: Three cases of lung large cell neuroendocrine carcinoma with clinicopathological features of SMARCA4 (BRG1) deficiency
ObjectiveTo investigate the clinicopathological characteristics, differential diagnosis and potential therapeutic targets of SMARCA4-deficient large cell neuroendocrine carcinoma (SD-LCNEC) in the lung.MethodsWe analyzed the clinicopathological features of 3 cases of SD-LCNEC and reviewed relevant l...
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Frontiers Media S.A.
2025-06-01
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| Series: | Frontiers in Oncology |
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| Online Access: | https://www.frontiersin.org/articles/10.3389/fonc.2025.1538548/full |
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| author | Fangfang Zou Fangfang Zou Jingdan Jia Yizeng Wang Yizeng Wang Xiaochun Fei Chaofu Wang Xiaoyan Chen Xiaoyan Chen |
| author_facet | Fangfang Zou Fangfang Zou Jingdan Jia Yizeng Wang Yizeng Wang Xiaochun Fei Chaofu Wang Xiaoyan Chen Xiaoyan Chen |
| author_sort | Fangfang Zou |
| collection | DOAJ |
| description | ObjectiveTo investigate the clinicopathological characteristics, differential diagnosis and potential therapeutic targets of SMARCA4-deficient large cell neuroendocrine carcinoma (SD-LCNEC) in the lung.MethodsWe analyzed the clinicopathological features of 3 cases of SD-LCNEC and reviewed relevant literature. Differential diagnoses were conducted using a panel of immunohistochemical antibodies.ResultsThe patients, aged 57 to 73 years, had tumors located in the right upper lobe, left hilum, and left upper lobe of the lung, respectively. All patients presented with lung masses. The tumors exhibited neuroendocrine carcinoma morphology, characterized by large tumor cells (nuclear diameter >3 lymphocytes), frequent mitoses, and prominent nucleoli. Tumor cells tested negative for SMARCA4 but were positive for Chromogranin-A(CgA), Synaptophysin (SYN), Insm-1, TTF-1 (partial), and Ki67 (90%). They were also negative for NapsinA, P63, P40, CK5/6, CK7, and NUT. Postoperative follow-up revealed one death, one case of Progressive Disease (PD), and one case of Stable Disease (SD).ConclusionSD-LCNEC is a rare and clinically aggressive carcinoma, often presenting with lymph node metastasis at the initial stage. Its morphology is equivalent to LCNEC; however, immunohistochemical staining indicates the absence of SMARCA4 and a reduction in neuroendocrine markers and TTF-1. There is no standardized treatment, but SMARCA4 may serve as a potential therapeutic target. Accurate identification of the molecular subtype of SD-LCNEC is crucial. |
| format | Article |
| id | doaj-art-eeb9d88fbdb0496fb83cb65cf7e28200 |
| institution | Kabale University |
| issn | 2234-943X |
| language | English |
| publishDate | 2025-06-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Oncology |
| spelling | doaj-art-eeb9d88fbdb0496fb83cb65cf7e282002025-08-20T03:27:36ZengFrontiers Media S.A.Frontiers in Oncology2234-943X2025-06-011510.3389/fonc.2025.15385481538548Case Report: Three cases of lung large cell neuroendocrine carcinoma with clinicopathological features of SMARCA4 (BRG1) deficiencyFangfang Zou0Fangfang Zou1Jingdan Jia2Yizeng Wang3Yizeng Wang4Xiaochun Fei5Chaofu Wang6Xiaoyan Chen7Xiaoyan Chen8Shandong Probincial Key Medical and Health Laboratory of Geriatric Gastrointestinal Tumor Pathology, Weihai Municipal Hospital, Cheeloo College of Medicine, Shandong University, Weihai, ChinaDepartment of Pathology, Weihai Municipal Hospital, Cheeloo College of Medicine, Shandong University, Weihai, ChinaDepartment of Pathology, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, ChinaDepartment of Pathology, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, ChinaDepartment of Pathology, Second Affiliated Hospital of Fujian Medical University, Quanzhou, Fujian, ChinaDepartment of Pathology, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, ChinaDepartment of Pathology, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, ChinaDepartment of Pathology, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, ChinaDepartment of Pathology, Ruijin-Hainan Hospital, Shanghai Jiao Tong University School of Medicine, Boao Research Hospital, Hainan, Qionghai, ChinaObjectiveTo investigate the clinicopathological characteristics, differential diagnosis and potential therapeutic targets of SMARCA4-deficient large cell neuroendocrine carcinoma (SD-LCNEC) in the lung.MethodsWe analyzed the clinicopathological features of 3 cases of SD-LCNEC and reviewed relevant literature. Differential diagnoses were conducted using a panel of immunohistochemical antibodies.ResultsThe patients, aged 57 to 73 years, had tumors located in the right upper lobe, left hilum, and left upper lobe of the lung, respectively. All patients presented with lung masses. The tumors exhibited neuroendocrine carcinoma morphology, characterized by large tumor cells (nuclear diameter >3 lymphocytes), frequent mitoses, and prominent nucleoli. Tumor cells tested negative for SMARCA4 but were positive for Chromogranin-A(CgA), Synaptophysin (SYN), Insm-1, TTF-1 (partial), and Ki67 (90%). They were also negative for NapsinA, P63, P40, CK5/6, CK7, and NUT. Postoperative follow-up revealed one death, one case of Progressive Disease (PD), and one case of Stable Disease (SD).ConclusionSD-LCNEC is a rare and clinically aggressive carcinoma, often presenting with lymph node metastasis at the initial stage. Its morphology is equivalent to LCNEC; however, immunohistochemical staining indicates the absence of SMARCA4 and a reduction in neuroendocrine markers and TTF-1. There is no standardized treatment, but SMARCA4 may serve as a potential therapeutic target. Accurate identification of the molecular subtype of SD-LCNEC is crucial.https://www.frontiersin.org/articles/10.3389/fonc.2025.1538548/fulllung neoplasmsSMARCA4-deficientlarge cell neuroendocrine carcinomaimmunohistochemistrydifferential diagnosis |
| spellingShingle | Fangfang Zou Fangfang Zou Jingdan Jia Yizeng Wang Yizeng Wang Xiaochun Fei Chaofu Wang Xiaoyan Chen Xiaoyan Chen Case Report: Three cases of lung large cell neuroendocrine carcinoma with clinicopathological features of SMARCA4 (BRG1) deficiency Frontiers in Oncology lung neoplasms SMARCA4-deficient large cell neuroendocrine carcinoma immunohistochemistry differential diagnosis |
| title | Case Report: Three cases of lung large cell neuroendocrine carcinoma with clinicopathological features of SMARCA4 (BRG1) deficiency |
| title_full | Case Report: Three cases of lung large cell neuroendocrine carcinoma with clinicopathological features of SMARCA4 (BRG1) deficiency |
| title_fullStr | Case Report: Three cases of lung large cell neuroendocrine carcinoma with clinicopathological features of SMARCA4 (BRG1) deficiency |
| title_full_unstemmed | Case Report: Three cases of lung large cell neuroendocrine carcinoma with clinicopathological features of SMARCA4 (BRG1) deficiency |
| title_short | Case Report: Three cases of lung large cell neuroendocrine carcinoma with clinicopathological features of SMARCA4 (BRG1) deficiency |
| title_sort | case report three cases of lung large cell neuroendocrine carcinoma with clinicopathological features of smarca4 brg1 deficiency |
| topic | lung neoplasms SMARCA4-deficient large cell neuroendocrine carcinoma immunohistochemistry differential diagnosis |
| url | https://www.frontiersin.org/articles/10.3389/fonc.2025.1538548/full |
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