Higashi Yuriko, Mizuno Mika, Kitazono Ikumi, Akahane Toshiaki, Tasaki Takashi, Noguchi Hirotsugu, Hisaoka Masanori, Kobayashi Hiroaki, Tanimoto Akihide
Department of Pathology, Kagoshima University Graduate School of Medical and Dental Sciences, 8-35-1 Sakuragaoka, Kagoshima, 890-8520, Japan.
Department of Obstetrics and Gynecology, Kagoshima University Graduate School of Medical and Dental Sciences, 8-35-1 Sakuragaoka, Kagoshima, 890-8520, Japan.
Diagn Pathol. 2025 Jun 3;20(1):71. doi: 10.1186/s13000-025-01669-4.
This report presents a rare case involving an extreme epithelial-to-mesenchymal transition, in which a specific type of sarcoma developed heterochronically as a recurrence of endometrioid carcinoma.
A female in her 50's presented with abnormal genital bleeding, and an endometrial biopsy revealed endometrioid carcinoma. Following the diagnosis of stage IA endometrioid carcinoma according to the 2008 classification system of the International Federation of Gynecology and Obstetrics, a robot-assisted simple hysterectomy, bilateral salpingo-oophorectomy, and sentinel lymph node navigation surgery were performed. Six months postoperatively, a tumor mass developed in the pelvis. A transrectal needle biopsy revealed spindle cell proliferation, and pelvic tumor resection was conducted for diagnostic therapy. The patient received no adjuvant chemotherapy or radiotherapy after the second surgery and remained free of tumor recurrence for 8 months. The resected yellowish solid tumor mass, measuring 16 × 12 × 9 cm, exhibited hemorrhage, necrosis, and cystic degeneration and was composed of fascicular proliferation of spindle tumor cells showing nuclear pleomorphism and frequent mitotic figures within a myxoid and inflammatory stroma. No epithelial component or organoid patterns were observed. Immunohistochemically, the tumor cells were positive for factor XIIIa, CD10, and cyclin D1, but negative for keratins (AE1/AE3 and CAM5.2) and other specific markers, supporting a diagnosis of high-grade myxoinflammatory fibroblastic sarcoma (MIFS).
Genomic analysis revealed identical mutations in PTEN, PIK3R1, CDKN2 A, and TP53 in both the primary uterine endometrioid carcinoma and heterochronic pelvic MIFS. An integrative approach involving histology, immunohistochemistry, and genomic analysis is critical for elucidating the pathogenesis of rare pelvic and uterine tumors.
本报告介绍了一例罕见病例，涉及一种极端的上皮-间质转化，其中一种特定类型的肉瘤异时性发生，为子宫内膜样癌的复发。
一名50多岁的女性出现生殖器异常出血，子宫内膜活检显示为子宫内膜样癌。根据2008年国际妇产科联盟的分类系统诊断为IA期子宫内膜样癌后，进行了机器人辅助单纯子宫切除术、双侧输卵管卵巢切除术和前哨淋巴结导航手术。术后6个月，盆腔出现肿瘤肿块。经直肠穿刺活检显示梭形细胞增生，为明确诊断进行了盆腔肿瘤切除术。第二次手术后患者未接受辅助化疗或放疗，8个月内无肿瘤复发。切除的淡黄色实性肿瘤肿块大小为16×12×9cm，有出血、坏死和囊性变，由梭形肿瘤细胞束状增生组成，这些细胞显示核多形性，在黏液样和炎性间质内有频繁的有丝分裂象。未观察到上皮成分或器官样结构。免疫组化显示，肿瘤细胞因子ⅩⅢa、CD10和细胞周期蛋白D1阳性，但角蛋白（AE1/AE3和CAM5.2）及其他特异性标志物阴性，支持高级别黏液炎性纤维母细胞肉瘤（MIFS）的诊断。
基因组分析显示，原发性子宫子宫内膜样癌和异时性盆腔MIFS中PTEN、PIK3R1、CDKN2A和TP53存在相同突变。组织学、免疫组化和基因组分析相结合的方法对于阐明罕见的盆腔和子宫肿瘤的发病机制至关重要。
