SMARCA4缺陷型子宫肉瘤：一例病例报告及简要综述。
SMARCA4-deficient uterine sarcoma: A case report and a concise review.
作者信息
Kord Ali, Eppurath Atul, Drammeh Hamidou, Elbaz Younes Ismail, Xie Karen L
机构信息
Division of Interventional Radiology, University of Illinois College of Medicine, Chicago, IL, USA.
Department of Radiology, University of Illinois College of Medicine, Chicago, IL, USA.
出版信息
Case Rep Womens Health. 2020 Jun 3;27:e00231. doi: 10.1016/j.crwh.2020.e00231. eCollection 2020 Jul.
BACKGROUND
SMARCA4-deficient uterine sarcoma (SDUS) is a newly discovered undifferentiated uterine mesenchymal malignancy which has loss of expression of SMARCA4.
CASE
A 46-year-old woman presented with heavy irregular vaginal bleeding over the previous 5 months. Computed tomography and magnetic resonance imaging showed a large pelvic mass centered within the uterus, suspicious of malignancy with regional metastatic lymphadenopathy. Biopsy confirmed SDUS and patient underwent chemotherapy. Her symptoms improved 3 months after treatment.
CONCLUSION
An extremely rare case of this newly described entity is reported. Recognizing the characteristic imaging and pathology findings of SDUS is essential for an accurate diagnosis, which may affect patient survival.
背景
SMARCA4缺陷型子宫肉瘤（SDUS）是一种新发现的未分化子宫间叶性恶性肿瘤，其SMARCA4表达缺失。
病例
一名46岁女性在过去5个月出现大量不规则阴道出血。计算机断层扫描和磁共振成像显示子宫内有一个大的盆腔肿块，怀疑为恶性肿瘤并伴有区域转移性淋巴结病。活检确诊为SDUS，患者接受了化疗。治疗3个月后她的症状有所改善。
结论
报道了这一最新描述实体的一例极其罕见的病例。认识到SDUS的特征性影像学和病理学表现对于准确诊断至关重要，这可能会影响患者的生存。
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