| 林聪杰,王明慧,陈琳,等.小肠肌动蛋白依赖性染色质调控因子亚家族 A成员 4缺失型未分化肿瘤 1例[J].安徽医药,2026,30(10):2024-2028. |
| 小肠肌动蛋白依赖性染色质调控因子亚家族 A成员 4缺失型未分化肿瘤 1例 |
| A case report and review of SMARCA4 deletion undifferentiated tumor of small intestine |
| |
| DOI：10.3969/j.issn.1009-6469.2026.10.022 |
| 中文关键词: 空肠肿瘤 回肠肿瘤 十二指肠肿瘤 SMARCA4 未分化恶性肿瘤 病理特征 免疫治疗 |
| 英文关键词: Jejunal neoplasms Ileal neoplasms Duodenal neoplasms SMARCA4 Undifferentiated malignant tumor Patho-logical features Immunotherapy |
| 基金项目:山东第二医科大学附属医院(教学医院)科技发展项目( 2024FYZ006) |
|
| 摘要点击次数: 90 |
| 全文下载次数: 23 |
| 中文摘要: |
| 目的探讨小肠肌动蛋白依赖性染色质调控因子亚家族 A成员( SMARCA)4缺失型未分化肿瘤( SMARCA4-DUT)的临床病理特征、诊断要点、治疗方法。方法收集 2023年 8月至 2024年 1月山东第二医科大学附属医院收治的 1例小肠 SMAR-CA4-DUT病人的临床病理资料，切片行苏木精 -伊红( HE)染色、免疫组织化学染色，分析小肠 SMARCA4-DUT的临床病理特征，术后应用化疗、免疫治疗，并随访。结果该例小肠 SMARCA4-DUT病人的肿瘤细胞主要呈弥漫巢状、片状分布，黏附性差，局部区域可见横纹肌样细胞，细胞核呈空泡状，核仁明显，核分裂像易见，胞质嗜酸性，肿瘤内可见片状坏死。免疫组织化学染色结果显示肿瘤细胞 SMARCA4表达缺失，整合酶相互作用子 1(INI-1)、 SMARCA2表达没有缺失、突触素阳性，波形蛋白( vimen-tin)阳性、婆罗双树样基因 4(SALL4)部分阳性， Ki-67增殖指数为 70%，错配修复蛋白( MLH1、MSH2、MSH6、PMS2)阳性，程序性死亡配体 1［PD-L1(CPS=10)］，其余标志物均为阴性。分子检测显示 SMARCA4基因截断突变。术后经过化疗、免疫治疗。结论该研究总结了小肠 SMARCA4-DUT的临床病理学特征，对鉴别诊断、临床治疗及预后具有重要指导意义。 |
| 英文摘要: |
| Objective To investigate clinicopathological features, diagnosis and treatment of SMARCA4 deletion undifferentiated tu-mor (SMARCA4-DUT) in small intestine.Methods The clinicopathological data of one patient with small intestine SMARCA4-DUT diagnosed at the Affiliated Hospital of Shandong Second Medical University from August 2023 to January 2024 were collected. hema-toxylin-eosin (HE) staining and immunohistochemical staining were performed to analyze the clinicopathological features. Chemothera-py and immunotherapy were applied after operation, and follow-up was conducted.Results The tumor cells of small intestine SMAR-CA4-DUT were mainly in diffuse nested and flaky distribution, with poor adhesion. Rhabdomyoid cells could be seen in some areas,and nucleus was vacuolar with obvious nucleoli. The mitotic image was common, cytoplasm was eosinophilic, and flaky necrosis couldbe found. Immunohistochemical staining showed that loss of expression of SWI/SNF-related, matrix-associated, actin-dependent regula-tor of chromatin subfamily A member 4 (SMARCA4), while the expression of integrase interactor 1 (INI-1) and SWI/SNF-related, ma-trix-associated, actin-dependent regulator of chromatin subfamily A member 2 (SMARCA2) were retained. Synaptophysin (Syn) was pos-itive, vimentin was positive, and Spalt-like transcription factor 4 (SALL4) showed partial positivity. The Ki-67 proliferation index was 70%. Mismatch repair proteins (MLH1, MSH2, MSH6, and PMS2) were positive. Programmed death-ligand 1 (PD-L1) showed a com-bined positive score (CPS) of 10, and all other markers were negative. Molecular testing revealed a truncating mutation of the SMAR-CA4 gene. Postoperative chemotherapy and immunotherapy were performed.Conclusion This paper summarizes the clinicopathologi-cal features of small intestine SMARCA4-DUT, which supplies important guiding significance for the diagnosis, clinical treatment and prognosis of such patients. |
|
查看全文
查看/发表评论 下载PDF阅读器 |
| 关闭 |
|
|
|
