Samantha X Xing, Lauren B Yeager, Carlos A Pagan, Shifali Dumeer, Brian P Marr
{"title":"Orbital Synovial Sarcoma: Novel Case Report and Review of the Literature.","authors":"Samantha X Xing, Lauren B Yeager, Carlos A Pagan, Shifali Dumeer, Brian P Marr","doi":"10.1097/IOP.0000000000003038","DOIUrl":null,"url":null,"abstract":"<p><strong>Purpose: </strong>To describe the clinical, histologic, and molecular features of a rare case of orbital synovial sarcoma and to provide a comprehensive literature review.</p><p><strong>Methods: </strong>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.</p><p><strong>Results: </strong>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).</p><p><strong>Conclusions: </strong>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.</p>","PeriodicalId":19588,"journal":{"name":"Ophthalmic Plastic and Reconstructive Surgery","volume":" ","pages":""},"PeriodicalIF":1.3000,"publicationDate":"2025-08-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Ophthalmic Plastic and Reconstructive Surgery","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1097/IOP.0000000000003038","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q3","JCRName":"OPHTHALMOLOGY","Score":null,"Total":0}
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.
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.