Inoue Kotaro, Kai Kentaro, Sato Shimpei, Nishida Haruto, Hirakawa Koji, Nasu Kaei, Narahara Hisashi
Department of Obstetrics and Gynecology, Faculty of Medicine, Oita University, Yufu, Japan.
Department of Diagnostic Pathology, Faculty of Medicine, Oita University, Yufu, Japan.
SAGE Open Med Case Rep. 2021 Feb 27;9:2050313X21999200. doi: 10.1177/2050313X21999200. eCollection 2021.
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.
一名65岁、孕3产2的日本女性因子宫内膜增厚出现症状而转诊至我院。宫颈和子宫内膜细胞学检查显示为腺癌。子宫内膜活检标本为混合型，腺体部分诊断为子宫内膜样癌，实性部分诊断为高级别混合性大细胞和小细胞神经内分泌癌（L/SCNEC）。她接受了筋膜外子宫切除术加双侧输卵管卵巢切除术、盆腔和腹主动脉旁淋巴结清扫术以及大网膜切除术（国际妇产科联盟（FIGO）IIIB期，pT3b pN0 M0）。她目前没有有害的胚系突变，但检测到高肿瘤突变负荷和高微卫星不稳定性（MSI）。她接受了六个周期的铂类一线化疗并实现了完全缓解。免疫检查点阻断疗法是MSI-High实体瘤很有前景的二线治疗方法。然而，子宫内膜L/SCNEC的MSI或错配修复（MMR）状态在文献中仍不明确。需要对MSI/MMR状态进行普遍筛查，特别是对于罕见且侵袭性强的疾病。
