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8 例子宫颈尤文肉瘤的临床病理及分子细胞遗传学分析:病例系列并文献复习

Clinicopathologic and Molecular Cytogenetic Analysis of 8 Cases With Uterine Cervical Ewing Sarcoma: Case Series With Literature Review.

机构信息

Departments of Pathology.

Department of Oncology, Shanghai Medical College, Fudan University, Shanghai, China.

出版信息

Am J Surg Pathol. 2021 Apr 1;45(4):523-530. doi: 10.1097/PAS.0000000000001674.

DOI:10.1097/PAS.0000000000001674
PMID:33538423
Abstract

Ewing sarcoma (ES) is a highly malignant tumor that rarely occurs in the uterine cervix. Herein, we report 8 cases with ES arising primarily in the uterine cervix by focusing on clinicopathologic and molecular cytogenetic features and differential diagnoses. Eight cases of cervical ES were diagnosed between February, 2012, and September, 2018. The age of patients ranged from 13 to 47 years. Abnormal vaginal bleeding and lower abdominal pain were the most common symptoms. Histologically, the tumor was composed of uniform, round, and oval cells with a narrow rim of eosinophilic cytoplasm. Fibrous septa were observed between tumor cell nests. The tumors showed brisk mitotic activity and areas of coagulative necrosis. According to immunohistochemical studies, 50% (4/8) of the cases were positive for cytokeratin (AE1/AE3), and 87.5% (7/8) were positive for synaptophysin, which resulted in a diagnostic confusion with small cell carcinoma, primarily when dealing with small cervical biopsies. Molecular testing demonstrated the rearrangement of the EWSR1 gene in all of the 8 cases, which confirmed the diagnosis of ES. Although rare, ES should be considered as indicators of cervical small round cell neoplasms. Molecular analysis may greatly contribute to the final diagnosis of ES occurring in this unusual location.

摘要

尤因肉瘤(ES)是一种高度恶性肿瘤,很少发生在子宫颈。本文通过重点关注临床病理和分子细胞遗传学特征及鉴别诊断,报道了 8 例原发于子宫颈的 ES。2012 年 2 月至 2018 年 9 月共诊断出 8 例宫颈 ES,患者年龄 13-47 岁。异常阴道出血和下腹痛是最常见的症状。组织学上,肿瘤由均匀、圆形和椭圆形细胞组成,胞质嗜酸性窄边。肿瘤细胞巢之间可见纤维性间隔。肿瘤具有活跃的有丝分裂活性和凝固性坏死区。根据免疫组织化学研究,50%(4/8)的病例对细胞角蛋白(AE1/AE3)呈阳性,87.5%(7/8)的病例对突触素呈阳性,这导致与小细胞癌的诊断混淆,尤其是在处理小的宫颈活检时。分子检测显示所有 8 例均存在 EWSR1 基因重排,从而确诊为 ES。虽然罕见,但 ES 应被视为宫颈小圆细胞肿瘤的指标。分子分析可能对诊断发生在这个不常见部位的 ES 有很大帮助。

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