Mixed large and small cell neuroendocrine carcinoma and endometrioid carcinoma of the endometrium with high microsatellite instability: A case report and literature review

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  • Kotaro Inoue
    Department of Obstetrics and Gynecology, Faculty of Medicine, Oita University, Yufu, Japan
  • Kentaro Kai
    Department of Obstetrics and Gynecology, Faculty of Medicine, Oita University, Yufu, Japan
  • Shimpei Sato
    Department of Obstetrics and Gynecology, Faculty of Medicine, Oita University, Yufu, Japan
  • Haruto Nishida
    Department of Diagnostic Pathology, Faculty of Medicine, Oita University, Yufu, Japan
  • Koji Hirakawa
    Department of Diagnostic Pathology, Faculty of Medicine, Oita University, Yufu, Japan
  • Kaei Nasu
    Division of Obstetrics and Gynecology, Support System for Community Medicine, Faculty of Medicine, Oita University, Yufu, Japan
  • Hisashi Narahara
    Department of Obstetrics and Gynecology, Faculty of Medicine, Oita University, Yufu, Japan

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<jats:p> A 65-year-old, gravida 3, para 2 Japanese woman was referred to our hospital for symptomatic thickening of the endometrial lining. Endocervical and endometrial cytology revealed an adenocarcinoma. The endometrial biopsy specimen was mixed, with a glandular part diagnosed as endometrioid carcinoma and a solid part diagnosed as high-grade mixed large and small cell neuroendocrine carcinoma (L/SCNEC). She underwent extra-fascial hysterectomy with bilateral salpingo-oophorectomy, complete pelvic and para-aortic lymphadenectomy, and omentectomy (FIGO IIIB, pT3b pN0 M0). She currently has no deleterious germline mutation, but high tumor mutation burden and high microsatellite instability (MSI) were identified. She underwent six cycles of platinum-based frontline chemotherapy and achieved complete remission. Immune checkpoint blockade therapy is a promising second-line therapy for MSI-high solid tumors. However, the MSI or mismatch repair (MMR) status of endometrial L/SCNEC remains unclear in the literature. Universal screening for MSI/MMR status is needed, particularly for a rare and aggressive disease. </jats:p>

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