Ophthalmic plastic and reconstructive surgery · 2025
Bilateral V600-E Mutant Ganglioglioma of the Optic Nerve and Entire Optic Pathway: Case Report and Literature Review.
СтатьяКлинический случайОбзорНазвание и аннотация: Перевод пока не подготовлен
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Cruz Antonio Augusto Velasco, Todo Márcia C, Chahud Fernando, Boasquevisque Gustavo S, Neder Luciano, Valera Elvis T
Аннотация
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.