Mathew Rebecca, Voss Rachel K, Naghavi Arash O, Henderson-Jackson Evita, Brohl Andrew S
Department of Chemistry, University of South Florida, Tampa, USA.
Department of Sarcoma, Moffitt Cancer Center, Tampa, USA.
Cureus. 2025 Jul 31;17(7):e89124. doi: 10.7759/cureus.89124. eCollection 2025 Jul.
Fusion-driven extraosseous spindle cell rhabdomyosarcoma (SRMS) is a rare and recently recognized subcategory of rhabdomyosarcoma, with limited data on optimal management and clinical outcomes. We present the clinical course and long-term outcome of a unique case of SRMS harboring a novel gene fusion diagnosed in a 40-year-old female. The case was successfully managed with a treatment regimen including surgery, radiation, and chemotherapy following a low-risk rhabdomyosarcoma paradigm. This report highlights the importance of molecular diagnostics in identifying rare gene fusions in SRMS and may help guide the management of future patients.
融合驱动的骨外梭形细胞横纹肌肉瘤（SRMS）是横纹肌肉瘤中一种罕见且最近才被认识的亚类，关于其最佳治疗和临床结果的数据有限。我们报告了一例独特的SRMS病例的临床病程和长期结果，该病例为一名40岁女性，携带一种新的基因融合。该病例按照低风险横纹肌肉瘤的治疗模式，通过包括手术、放疗和化疗的治疗方案成功治疗。本报告强调了分子诊断在识别SRMS中罕见基因融合方面的重要性，并可能有助于指导未来患者的治疗。
