SMARCA4-deficient uterine sarcoma: A case report and a concise review

Abstract

Background: SMARCA4-deficient uterine sarcoma (SDUS) is a newly discovered undifferentiated uterine mesenchymal malignancy which has loss of expression of SMARCA4. Case: A 46-year-old woman presented with heavy irregular vaginal bleeding over the previous 5 months. Computed tomography and magnetic resonance imaging showed a large pelvic mass centered within the uterus, suspicious of malignancy with regional metastatic lymphadenopathy. Biopsy confirmed SDUS and patient underwent chemotherapy. Her symptoms improved 3 months after treatment. Conclusion: An extremely rare case of this newly described entity is reported. Recognizing the characteristic imaging and pathology findings of SDUS is essential for an accurate diagnosis, which may affect patient survival.

Keywords

• SMARCA4
• Uterine sarcoma
• Uterine malignancies
• Small cell carcinoma of the ovary