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November 7, 2019

SETD2 Mutation in an Aggressive Optic Nerve Glioma

Author Affiliations
  • 1Wilmer Eye Institute, Johns Hopkins University School of Medicine, Baltimore, Maryland
  • 2Ophthalmic Plastic and Reconstructive Surgery, Orbital Surgery Division, Department of Ophthalmology, New York Presbyterian Hospital, Columbia University Irving Medical Center, New York
  • 3Division of Pediatric Hematology/Oncology/Stem Cell Transplant, Department of Pediatrics, Columbia University Irving Medical Center, New York, New York
  • 4Department of Pathology and Cell Biology, Columbia University Irving Medical Center, New York, New York
JAMA Ophthalmol. Published online November 7, 2019. doi:https://doi.org/10.1001/jamaophthalmol.2019.4511

Optic nerve gliomas (ONGs) in children are uniformly low-grade gliomas that frequently cause vision loss. Optic nerve gliomas in adults are reported to be more clinically aggressive with frequent transformation into high-grade gliomas. We report a child with sporadic ONG and an aggressive clinical course. Tumor molecular characterization identified KIAA1549-BRAF fusion but also set domain-containing protein 2 (SETD2; OMIM, 612778) mutation, previously reported only, to our knowledge, in high-grade gliomas and non–central nervous system cancers.

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