Unfolding the rarity of SMARCA4 deficient uterine sarcoma (SDUS): A case report

Background: SMARCA4 deficient uterine sarcoma (SDUS) is a relatively new entity added to the family of uterine sarcoma characterised by SMARCA4/BRG1 deficiency. Case: A 62 years old lady presented with abdominal pain and vaginal discharge. On evaluation, found to have a pelvic mass with lymph nodal involvement. She underwent hysterectomy with bilateral salpingo-oophorectomy and lymphadenectomy. Preliminary diagnosis made outside was endometrial stromal sarcoma. On further review, had epithelioid and rhabdoid morphology with SMARCA4 loss documented on comprehensive gene profiling. Recurrence within few months of surgery was seen. She was started on gemcitabine and taxol based chemotherapy, showing significant clinical and radiological improvement. Conclusion: Diagnostic dilemma of this infrequent, aggressive subtype of uterine sarcoma adds to the hindrance in early recognition. Identifying histology surmounted with gene profiling is helpful in establishing diagnosis resulting in early treatment and improving outcomes.