Pathological characteristics and immune microenvironment of SMARCA4-deficient undifferentiated uterine sarcoma
Jie Gao1, Ruirui Fan2, Dahong Chen3
1Department of Pathology, Xiamen Humanity Hospital Fujian Medical University, No.3777 Xianyue Street, Xiamen, Fujian, 361000, China.
Abstract:
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.
Insights
SMARCA4-deficient undifferentiated uterine sarcoma (SDUS) is a rare cancer. This case study analyzes its immune microenvironment, revealing CD8/CD68/PD-1/PD-L1 expression, which may aid future diagnosis and treatment strategies.
Area of Science:
- Gynecologic Pathology
- Oncology
- Immunology
Background:
- SMARCA4-deficient undifferentiated uterine sarcoma (SDUS) is a rare, highly invasive malignancy with poor prognosis and no current standard treatment.
- Research on the immune microenvironment of SDUS is limited globally.
- Understanding the immune landscape is crucial for developing targeted therapies.
Purpose of the Study:
- To report a case of SDUS with detailed diagnostic analysis.
- To investigate the immune microenvironment of SDUS.
- To enhance diagnostic awareness and potentially inform future therapeutic approaches.
Main Methods:
- Morphological and immunohistochemical analysis of tumor tissue.
- Molecular detection techniques.
- Immune microenvironment assessment using immunohistochemistry and multiple immunofluorescence staining.
Main Results:
- Tumor cells exhibited retained INI-1, focal CD10, and lost BRG1, CK-pan, synaptophysin, desmin, and ER expression.
- CD3 and CD8 positive immune cells infiltrated the tumor, with no PD-L1 detected initially.
- Multiple immunofluorescence revealed co-expression of CD8/CD68/PD-1/PD-L1 on immune and tumor cells.
Conclusions:
- This case report provides insights into the diagnostic features of SDUS.
- The identified immune microenvironment characteristics, including PD-1/PD-L1 expression, offer potential therapeutic targets.
- Further research into the SDUS immune landscape is warranted to improve patient outcomes.
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