Uterine myxoid leiomyosarcoma complicated by pulmonary embolism: a case report with a systematic literature review

BACKGROUND: Uterine myxoid leiomyosarcoma (MLMS) is an extremely rare and highly aggressive subtype of uterine leiomyosarcoma. Its rarity poses challenges to clinical diagnosis and treatment. CASE PRESENTATION: A 48-year-old Chinese woman, gravida 2, para 2, presented with vaginal bleeding lasting half a month. Pelvic ultrasonography and magnetic resonance imaging scans led to a preliminary diagnosis of uterine leiomyomas and adnexa cyst. She subsequently underwent an elective laparoscopic myomectomy and adnexal cysts enucleation. Postoperative pathological examination confirmed the diagnosis of uterine MLMS. Prior to her scheduled second surgery, she developed a pulmonary embolism. Following one month of heparin anticoagulation, she received total laparoscopic hysterectomy and bilateral salpingo-oophorectomy therapy, followed by 4 courses of intravenous gemcitabine plus doxorubicin chemotherapy. Additionally, she received letrozole as long-term maintenance therapy. To date, one and a half years of follow-up has shown no evidence of tumor recurrence or metastasis. CONCLUSIONS: This is a case of uterine MLMS complicated by pulmonary embolism. Adjuvant gemcitabine plus doxorubicin chemotherapy combined with letrozole maintenance therapy achieved progression-free survival for one and a half years. Through systematic literature reviewing, we conduct an in-depth discussion on diagnostic challenges, surgical approaches considerations, venous thromboembolism (VTE) risk, and value of adjuvant therapy of this disease. Given the known risk of late recurrence in uterine MLMS, long-term clinical monitoring is essential to confirm the durability of this treatment response.