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一名患有携带MEIS1-FOXO1基因融合的梭形细胞横纹肌肉瘤患者的治疗及临床结果

Treatment and Clinical Outcome of a Patient With Spindle Cell Rhabdomyosarcoma Harboring MEIS1-FOXO1 Gene Fusion.

作者信息

Mathew Rebecca, Voss Rachel K, Naghavi Arash O, Henderson-Jackson Evita, Brohl Andrew S

机构信息

Department of Chemistry, University of South Florida, Tampa, USA.

Department of Sarcoma, Moffitt Cancer Center, Tampa, USA.

出版信息

Cureus. 2025 Jul 31;17(7):e89124. doi: 10.7759/cureus.89124. eCollection 2025 Jul.

Abstract

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.

摘要

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。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3f10/12398256/e5c48dd5159e/cureus-0017-00000089124-i01.jpg

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