Optic nerve glioma (ONG) is a rare, typically slow-growing WHO I grade tumor that affects the visual pathways. ONG is most commonly seen in the pediatric population, in association with neurofibromatosis type 1 syndrome. However, sporadic adult cases may also occur and may clinically behave more aggressively, despite benign histopathology. Genetic characterization of these tumors, particularly in the adult population, is lacking. A 39-year-old female presented with 1 month of progressive left-sided visual loss secondary to a enhancing mass along the left optic nerve sheath. Initial empiric management with focal radiotherapy failed to prevent tumor progression, prompting open biopsy which revealed a WHO I pilocytic astrocytoma of the optic nerve. Whole-exome sequencing of the biopsy specimen revealed somatic mutations in NF1,FGFR1 and PTPN11 that may provide actionable targets for molecularly guided therapies. Genetic characterization of ONG is lacking but is needed to guide the management of these rare but complex tumors. The genomic alterations reported in this case contributes to understanding the pathophysiology of adult sporadic ONG and may help guide future clinical prognostication and development of targeted therapies.

视神经胶质瘤 (ONG) 是一种罕见的、通常生长缓慢的 WHO I 级肿瘤，会影响视觉通路。ONG 最常见于儿科人群，与 1 型神经纤维瘤病综合征有关。然而，尽管组织病理学是良性的，但也可能发生散发性成人病例，并且临床表现可能更具侵略性。缺乏这些肿瘤的遗传特征，特别是在成年人群中。一名 39 岁的女性出现 1 个月的进行性左侧视力丧失，继发于左侧视神经鞘的肿块增强。局部放射治疗的初步经验管理未能阻止肿瘤进展，促使开放活检显示视神经的 WHO I 毛细胞星形细胞瘤。活检标本的全外显子组测序揭示了 NF1 的体细胞突变，FGFR1 和 PTPN11 可能为分子引导治疗提供可操作的靶点。缺乏 ONG 的遗传特征，但需要指导这些罕见但复杂的肿瘤的管理。本病例报道的基因组改变有助于了解成人散发性 ONG 的病理生理学，并可能有助于指导未来的临床预后和靶向治疗的开发。