SMARCA4-deficient undifferentiated uterine sarcoma: A case report and literature review

SMARCA4-deficient undifferentiated uterine sarcoma (SDUS) is a rare, sporadic malignant tumor of mesenchymal origin of the uterus, which has highly aggressive and poor prognosis. In this case, we described a malignant tumor formed in the uterus occurring in a SMARCA4 deletion type and discussed its clinical characteristics, differential diagnosis, treatment and related literature analysis.

A 61-year-old patient underwent diagnostic scraping at a local hospital for irregular vaginal bleeding for 2 months. The postoperative pathology suggested endometrial malignancy. A subsequent pelvic ultrasound at our hospital revealed that the endometrium was not clear, and a slightly hypoechoic mass of 7 + cm was seen in the uterine cavity. This mass had an irregular shape and unclear demarcation from the myometrium. Furthermore, the presence of abundant blood flow signals was detected in and around the uterine cavity.

The patient was ultimately diagnosed with stage IB SDUS by postoperative routine pathology and immunohistochemistry.

The patient underwent a single-port laparoscopic total hysterectomy, bilateral adnexectomy and pelvic lymph node dissection.

The patient has undergone 3 cycles of postoperative platinum-based chemotherapy combined with docetaxel and epirubicin, and during the follow-up period, the patient remained in good overall condition without evidence of disease progression.

SDUS is a rare uterine sarcoma which cannot be underestimated and warrants careful clinical follow-up and histological evaluation.