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外阴原发性骨外尤文肉瘤：揭开罕见部位常见肿瘤的谜团

Primary Extraosseous Ewing Sarcoma of the Vulva: Unravelling the Mystery of a Common Tumor in an Uncommon Site.

作者信息

Gondi Syamsritha, Inuganti Venkata Renuka, B Chaitra, Ramamoorthy Sudhakar, Imandi Santhi

机构信息

Pathology, NRI Medical College, Guntur, IND.

Pathology, Guntur Medical College, Guntur, IND.

出版信息

Cureus. 2025 Jul 23;17(7):e88632. doi: 10.7759/cureus.88632. eCollection 2025 Jul.

DOI:10.7759/cureus.88632
PMID:40861740
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC12375395/
Abstract

Primary vulvar Ewing sarcoma (ES) is exceedingly rare, particularly in postmenopausal women. To date, only 14 cases have been confirmed through molecular cytogenetic analysis. We report the case of a 55-year-old woman presenting with a painful, ulcerated vulvar mass. Imaging revealed a 6×7.9×8.5 cm lobulated soft tissue lesion. Contrast-enhanced computed tomography (CECT) demonstrated pulmonary metastases. Histopathology of the vulvar mass showed sheets of malignant small round cells, which were highlighted by strong membranous CD99 expression and NKX2.2 nuclear expression on immunohistochemistry. Fluorescence in situ hybridization (FISH) using a break-apart probe confirmed EWSR1 gene rearrangement, establishing the diagnosis of ES. Despite receiving eight cycles of chemotherapy, the patient succumbed to the disease. This is the 15th reported case of primary vulvar ES with molecular confirmation. The case highlights the importance of considering ES in the differential diagnosis of vulvar tumors and underscores the value of molecular diagnostics in guiding management.

摘要

原发性外阴尤因肉瘤（ES）极为罕见，在绝经后女性中尤为如此。迄今为止，通过分子细胞遗传学分析仅确诊了14例。我们报告了一例55岁女性，其外阴出现疼痛性溃疡肿物。影像学检查发现一个6×7.9×8.5 cm的分叶状软组织病变。增强计算机断层扫描（CECT）显示有肺转移。外阴肿物的组织病理学检查显示成片的恶性小圆形细胞，免疫组织化学显示其强膜性CD99表达和NKX2.2核表达。使用断裂分离探针的荧光原位杂交（FISH）证实了EWSR1基因重排，从而确诊为ES。尽管接受了8个周期的化疗，患者仍死于该疾病。这是第15例经分子确诊的原发性外阴ES报告病例。该病例凸显了在对外阴肿瘤进行鉴别诊断时考虑ES的重要性，并强调了分子诊断在指导治疗中的价值。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/378a/12375395/a1e0f88860e9/cureus-0017-00000088632-i05.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/378a/12375395/426e1a4b0e68/cureus-0017-00000088632-i01.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/378a/12375395/af845532af37/cureus-0017-00000088632-i02.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/378a/12375395/68db4de66b8e/cureus-0017-00000088632-i03.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/378a/12375395/0255bbc9fa16/cureus-0017-00000088632-i04.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/378a/12375395/a1e0f88860e9/cureus-0017-00000088632-i05.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/378a/12375395/426e1a4b0e68/cureus-0017-00000088632-i01.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/378a/12375395/af845532af37/cureus-0017-00000088632-i02.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/378a/12375395/68db4de66b8e/cureus-0017-00000088632-i03.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/378a/12375395/0255bbc9fa16/cureus-0017-00000088632-i04.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/378a/12375395/a1e0f88860e9/cureus-0017-00000088632-i05.jpg

相似文献

1
Primary Extraosseous Ewing Sarcoma of the Vulva: Unravelling the Mystery of a Common Tumor in an Uncommon Site.外阴原发性骨外尤文肉瘤：揭开罕见部位常见肿瘤的谜团
Cureus. 2025 Jul 23;17(7):e88632. doi: 10.7759/cureus.88632. eCollection 2025 Jul.

本文引用的文献

1
An unusual presentation of extraskeletal vaginal Ewing sarcoma: A case report.骨外阴道尤文肉瘤的罕见表现：一例报告
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Comparison of two chemotherapy regimens in patients with newly diagnosed Ewing sarcoma (EE2012): an open-label, randomised, phase 3 trial.两种化疗方案在初诊尤文肉瘤患者中的比较（EE2012）：一项开放标签、随机、III 期临床试验。
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Ecancermedicalscience. 2022 Mar 1;16:1361. doi: 10.3332/ecancer.2022.1361. eCollection 2022.
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Oncol Lett. 2021 Feb;21(2):171. doi: 10.3892/ol.2021.12432. Epub 2021 Jan 4.
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