Abstract:

Ovarian tumors with SMARCA4 gene deletion are rare, highly malignant, and have a poor prognosis. Patients often present with a typical early symptoms, leading to a late-stage diagnosis. This report discusses a case of an ovarian malignant tumor with SMARCA4 gene deletion. The patient was admitted with symptoms of lower limb swelling and increased bowel movements. CT imaging revealed a mass in the left adnexal area, with peritoneal and omental metastasis, retroperitoneal lymph node enlargement, and ascites in the abdominal and pelvic cavities. After being admitted in May 2023, imaging and tumor marker tests suggested ovarian malignancy. After ruling out surgical contraindications, the patient underwent laparoscopic exploration and pelvic biopsy under general anesthesia, revealing metastases throughout the abdominal cavity, pelvis, and surfaces of abdominal and pelvic organs. Postoperative pathology confirmed an ovarian malignant tumor with SMARCA4 gene deletion. The patient subsequently received chemotherapy, radiotherapy and microwave ablation of metastases. A six-month follow-up showed an improvement in the patient′s quality of life.

Key words: Ovarian neoplasms, Genes, Mutation, Diagnosis, Therapy, SMARCA4