Genetic characterization of an aggressive optic nerve pilocytic glioma

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 agg...

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Bibliographic Details
Published in:Brain tumor pathology 2021-01, Vol.38 (1), p.59-63
Main Authors: Hong, Christopher S., Fliney, Greg, Fisayo, Adeniyi, An, Yi, Gopal, Pallavi P., Omuro, Antonio, Pointdujour-Lim, Renelle, Erson-Omay, E. Zeynep, Omay, S. Bulent
Format: Article
Language:English
Subjects:
Adult
Adults
Astrocytoma - genetics
Astrocytoma - pathology
Biopsy
Brain cancer
Cancer Research
Case Report
Chemotherapy
Disease Progression
Female
Glioma
Histopathology
Humans
Magnetic resonance imaging
Medicine
Medicine & Public Health
Mutation
Neurofibromin 1 - genetics
Neurology
Neurosurgery
Oncology
Optic nerve
Optic Nerve Glioma - genetics
Optic Nerve Glioma - pathology
Optic Nerve Neoplasms - genetics
Optic Nerve Neoplasms - pathology
Pathology
Pediatrics
Protein Tyrosine Phosphatase, Non-Receptor Type 11 - genetics
Radiation therapy
Receptor, Fibroblast Growth Factor, Type 1 - genetics
Tumorigenesis
Tumors
Visual acuity
Whole Exome Sequencing
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Summary: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.
ISSN:1433-7398
1861-387X
DOI:10.1007/s10014-020-00383-x