A Unique Case of Pediatric Orbital Nodular Fasciitis with a Confirmed USP6 Fusion Mutation.

IF 1.2 4区 医学 Q3 OPHTHALMOLOGY
Rachel L Frauches, Pooya Roozdar, Jonathan H Lin, Natalie A Homer
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引用次数: 0

Abstract

Nodular fasciitis is a benign, pseudoneoplastic condition often misdiagnosed as sarcoma due to its rapid growth, high cellularity, and mitotic activity. Herein is reported a case of a 7-year-old patient with a painless, enlarging nodule in the left superolateral orbit. Ultrasound revealed a 7.5 mm cystic mass, which was excised via an upper eyelid crease anterior orbitotomy. Histopathologic studies showed benign spindle cells, and molecular testing identified a UBC::USP6 fusion, confirming the diagnosis of nodular fasciitis. Nodular fasciitis is most common in the limbs, trunk, and head or neck region, with fewer than 1% of cases occurring in the orbit. Molecular testing is critical in differentiating this condition from malignancies. Complete surgical excision is the preferred treatment, with a low recurrence rate of 1% to 2%. This is the first reported pediatric case of orbital nodular fasciitis with a UBC::USP6 fusion mutation.

一例确认USP6融合突变的儿童眼眶结节性筋膜炎。
结节性筋膜炎是一种良性、假性肿瘤,因其生长迅速、细胞密度高、有丝分裂活跃,常被误诊为肉瘤。本文报告一个7岁的病人,在左上外侧眼眶有一个无痛的、增大的结节。超声显示一个7.5毫米囊性肿块,通过上睑折痕前眼窝切开术切除。组织病理学检查显示良性梭形细胞,分子检测发现UBC::USP6融合,确认结节性筋膜炎的诊断。结节性筋膜炎最常见于四肢、躯干和头颈部,少于1%的病例发生在眼眶。分子检测是鉴别本病与恶性肿瘤的关键。完全手术切除是首选的治疗方法,复发率低,为1%至2%。这是首例报道的儿童眼眶结节性筋膜炎合并UBC::USP6融合突变的病例。
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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