Orbital Synovial Sarcoma: Novel Case Report and Review of the Literature.

IF 1.3 4区 医学 Q3 OPHTHALMOLOGY
Samantha X Xing, Lauren B Yeager, Carlos A Pagan, Shifali Dumeer, Brian P Marr
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引用次数: 0

Abstract

Purpose: To describe the clinical, histologic, and molecular features of a rare case of orbital synovial sarcoma and to provide a comprehensive literature review.

Methods: We present a case report and up-to-date literature review of orbital synovial sarcoma. Variables analyzed included patient demographics, clinical presentations, imaging findings, histopathologic features, molecular diagnostics, treatment, and outcomes.

Results: A 25-year-old female presented with a left orbital mass causing swelling, tearing, and mild vision impairment. Imaging identified a mass in the inferior orbit, which was subsequently confirmed by pathology as a monophasic spindle cell synovial sarcoma. Notably, initial fluorescence in situ hybridization testing for the SS18 rearrangement was negative; however, next-generation sequencing later identified an SS18-synovial sarcoma X breakpoint protein 2 fusion. The patient underwent complete surgical resection, followed by proton beam radiotherapy and chemotherapy. A PubMed and Medline search revealed 10 prior cases of orbital synovial sarcoma. Most patients were female (90.9%) and presented with painless swelling, lacrimation, and headaches. All tumors were localized at diagnosis. Surgical resection was the primary treatment in 81% of cases, with adjuvant radiation or chemotherapy each administered in 36% of cases. No recurrence or metastasis was observed on follow-up (average 11.6 months).

Conclusions: Orbital synovial sarcoma is rare and typically localized at diagnosis. This is the first reported orbital synovial sarcoma with an SS18-synovial sarcoma X breakpoint protein 2 fusion identified by next-generation sequencing after negative fluorescence in situ hybridization. The case underscores the diagnostic value of molecular profiling when standard testing is inconclusive.

眼眶滑膜肉瘤:新病例报告及文献复习。
目的:描述一例罕见的眼眶滑膜肉瘤的临床、组织学和分子特征,并提供全面的文献复习。方法:我们报告一例眼窝滑膜肉瘤并复习最新文献。分析的变量包括患者人口统计学、临床表现、影像学表现、组织病理学特征、分子诊断、治疗和结果。结果:一名25岁女性因左眼眶肿块引起肿胀、撕裂和轻度视力损害。影像学发现下眼眶肿块,随后病理证实为单相梭形细胞滑膜肉瘤。值得注意的是,SS18重排的初始荧光原位杂交检测为阴性;然而,下一代测序后来发现了ss18 -滑膜肉瘤X断点蛋白2融合。患者接受了完全的手术切除,随后进行了质子束放疗和化疗。PubMed和Medline检索显示了10例眼眶滑膜肉瘤。大多数患者为女性(90.9%),表现为无痛性肿胀、流泪和头痛。所有肿瘤在诊断时均为局部。81%的病例以手术切除为主要治疗方法,36%的病例分别给予辅助放疗或化疗。随访时间平均11.6个月,无复发或转移。结论:眼眶滑膜肉瘤是一种罕见的肉瘤,诊断时具有典型的局限性。这是首次报道的眼眶滑膜肉瘤与ss18 -滑膜肉瘤X断点蛋白2融合,通过负荧光原位杂交后的下一代测序鉴定。该病例强调了当标准检测不确定时分子谱分析的诊断价值。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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来源期刊
CiteScore
2.50
自引率
10.00%
发文量
322
审稿时长
3-8 weeks
期刊介绍: Ophthalmic Plastic and Reconstructive Surgery features original articles and reviews on topics such as ptosis, eyelid reconstruction, orbital diagnosis and surgery, lacrimal problems, and eyelid malposition. Update reports on diagnostic techniques, surgical equipment and instrumentation, and medical therapies are included, as well as detailed analyses of recent research findings and their clinical applications.
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