Bilateral V600-E Mutant Ganglioglioma of the Optic Nerve and Entire Optic Pathway: Case Report and Literature Review.

IF 1.2 4区 医学 Q3 OPHTHALMOLOGY
Antonio Augusto Velasco Cruz, Márcia C Todo, Fernando Chahud, Gustavo S Boasquevisque, Luciano Neder, Elvis T Valera
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引用次数: 0

Abstract

A 2-year-old male patient was presented with a bilateral optic nerve tumor diagnosed as a glioma, which extended to his entire optic pathways bilaterally. Previous treatment with conventional chemotherapy was unsuccessful. As his OS had no light perception, a biopsy of the optic nerve was performed through a transconjunctival approach. Histopathological examination of the specimen was compatible with ganglioglioma, an extremely rare neoplasm of the optic nerve. Genome sequencing of the tumor specimen revealed a BRAF V600E point mutation with activation of the MAPK/ERKkinase signaling pathway. The tumor was significantly reduced 3 months after targeted therapy.

双侧视神经及全视神经通路V600-E突变神经节胶质瘤病例报告及文献复习。
一个2岁的男性患者提出了一个双侧视神经肿瘤诊断为胶质瘤,这扩展到他的整个视神经通路双侧。既往常规化疗均未成功。由于他的OS没有光感知,因此通过经结膜入路对视神经进行活检。标本的组织病理学检查符合神经节神经胶质瘤,一种极为罕见的视神经肿瘤。肿瘤标本的基因组测序显示,BRAF V600E点突变激活了MAPK/ erk激酶信号通路。靶向治疗3个月后肿瘤明显缩小。
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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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