淋巴结转移性胸部SMARCA4缺失性未分化肿瘤1例并文献复习

The metastatic thoracic SMARCA4-deficient undifferentiated tumor of lymph node:a case report and literature review

目的报道1例淋巴结转移性胸部SMARCA4缺失性未分化肿瘤(SMARCA4-UT)并复习相关文献,提高对此肿瘤的认识,为临床病理诊断淋巴结转移性未分化肿瘤提供新思路。方法回顾性分析烟台山医院2023年5月收治的1例淋巴结转移性胸部SMARCA4-UT临床病理资料,进行光镜下观察及免疫组织化学检测。结合复习相关文献,分析其临床病理学特征。结果胸部SMARCA4-UT组织学可见特征性的横纹肌样肿瘤细胞,免疫组织化学BRG1、BRM、细胞角蛋白丢失,部分细胞表达干细胞标志物CD34、SOX2和SALL4,上皮标记为Claudin-4丢失。结论胸部SMARCA4-UT是一种新的肿瘤类型,具有特殊的临床表现、特征性的组织学形态及免疫组织化学表型。病理明确诊断是决定肿瘤治疗的关键。

ObjectiveThis study aims to report a case of metastatic thoracic SMARCA4-deficient undifferentiated tumor(SMARCA4-UT)in lymph node metastasis and review relevant literature,so as to improve the understanding of this tumor and provide new ideas for clinicopathological diagnosis of lymph node metastatic undifferentiated tumor.MethodsThe clinicopathological data of a case with metastatic thoracic SMARCA4-deficient undifferentiated tumor of lymph node admitted to Yantaishan Hospital in May 2023 were retrospectively analyzed.The light microscope observation and immunohistochemical detection were performed.The clinicopathological features were analyzed,and the relevant literature was reviewed.ResultsThe histology of thoracic SMARCA4-deficient undifferentiated tumor showed characteristic rhabdomyoid tumor cells with immunohistochemical loss of BRG1,BRM and cytokeratin.Stem cell markers CD34,SOX2 and SALL4 were expressed in some cells,and epithelial marker Claudin-4 was lost.ConclusionsThe thoracic SMARCA4-eficient undifferentiated tumor is a new type of tumor with special clinical manifestations,characteristic histological morphology and immunohistochemical phenotypes.A definitive pathologic diagnosis is the key to determining the direction of treatment for this kind of tumor.