期刊
BRAIN TUMOR PATHOLOGY
卷 38, 期 1, 页码 59-63出版社
SPRINGER JAPAN KK
DOI: 10.1007/s10014-020-00383-x
关键词
Optic glioma; Genomics; Sequencing; Neurofibromatosis; Case report
资金
- NCATS NIH HHS [UL1 TR001863] Funding Source: Medline
Optic nerve glioma is a rare tumor that mainly affects children and is associated with neurofibromatosis type 1 syndrome. Although adult cases may occur, clinical behavior may be more aggressive, highlighting the need for further research and guidance on treatment strategies.
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.
作者
我是这篇论文的作者
点击您的名字以认领此论文并将其添加到您的个人资料中。
推荐
暂无数据