Department of Pathology, Xiamen Humanity Hospital Fujian Medical University, No.3777 Xianyue Street, Xiamen, Fujian, 361000, China.
Department of Pathology, Xiang'an Hospital of Xiamen University, School of Medicine, Xiamen University, Xiamen, China.
Diagn Pathol. 2023 May 16;18(1):62. doi: 10.1186/s13000-023-01347-3.
SMARCA4-deficient undifferentiated uterine sarcoma (SDUS) is a highly invasive single-gene malignant tumor caused by mutations in the SMARCA4 gene. SDUS has a poor prognosis, with no established treatment strategy at present. Further, there is a lack of relevant research on the role of the immune microenvironment in SDUS worldwide. Here, we report a case of SDUS that was diagnosed and analysed using morphological, immunohistochemical, and molecular detection techniques, along with the analysis of the immune microenvironment. By immunohistochemistry, the tumor cells showed retained INI-1 expression, focal CD10 expression, and loss of BRG1, CK-pan, synaptophysin, desmin, and ER expression. Further, some of the immune cells expressing CD3 and CD8 had infiltrated into the SDUS, but no PD-L1 expression was detected. The multiple immunofluorescent staining results showed that a proportion of the immune cells and SDUS cells expressed CD8/CD68/PD-1/PD-L1. Therefore, our report will help in the diagnostic awareness of SDUS.
SMARCA4 缺陷型未分化子宫肉瘤（SDUS）是一种由 SMARCA4 基因突变引起的高度侵袭性单基因恶性肿瘤。SDUS 预后不良，目前尚无既定的治疗策略。此外，全球范围内对 SDUS 免疫微环境的作用缺乏相关研究。在这里，我们报告了一例 SDUS 的病例，该病例通过形态学、免疫组织化学和分子检测技术进行了诊断和分析，并对免疫微环境进行了分析。免疫组织化学显示，肿瘤细胞保留 INI-1 表达，局灶性 CD10 表达，BRG1、CK-泛、突触素、结蛋白和 ER 表达缺失。此外，一些表达 CD3 和 CD8 的免疫细胞浸润到 SDUS 中，但未检测到 PD-L1 表达。多重免疫荧光染色结果显示，一部分免疫细胞和 SDUS 细胞表达 CD8/CD68/PD-1/PD-L1。因此，我们的报告将有助于提高对 SDUS 的诊断意识。
