Genetic characterization of an aggressive optic nerve pilocytic glioma
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CASE REPORT
Genetic characterization of an aggressive optic nerve pilocytic glioma Christopher S. Hong1 · Greg Fliney2 · Adeniyi Fisayo2 · Yi An3 · Pallavi P. Gopal4 · Antonio Omuro5 · Renelle Pointdujour‑Lim2 · E. Zeynep Erson‑Omay1 · S. Bulent Omay1 Received: 28 August 2020 / Accepted: 6 October 2020 © The Japan Society of Brain Tumor Pathology 2020
Abstract 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. Keywords Optic glioma · Genomics · Sequencing · Neurofibromatosis · Case report
Introduction Optic nerve glioma (ONG) is typically a slow-growing glial tumor affecting the visual pathway. The pediatric population is most commonly affected in association with neurofibromatosis type 1 syndrome, but sporadic cases may also occur in both children and adults. Typically, ONG is characterized as World Health Organization (WHO) grade 1, * E. Zeynep Erson‑Omay [email protected] * S. Bulent Omay [email protected] 1
Department of Neurosurgery, Yale School of Medicine, 300 Cedar Street, TAC S327, New Haven, CT 06511, USA
2
Department of Ophthalmology and Visual Science, Yale School of Medicine, New Haven, CT, USA
3
Department of Therapeutic Radiology, Yale School of Medicine, New Haven, CT, USA
4
Department of Pathology, Yale School of Medicine, New Haven, CT, USA
5
Division of Neuro‑Oncology, Yale School of Medicine, Yale Cancer Center, New Haven, CT, USA
but tumor grade may not necessarily predict clinical behavior [1–3]. Treatment is usually reserved for cases in which visual acuity is worsening or significant progressive tumor growth is observed on serial imaging [4]. The molecular characterization of these tumors, outside their typical association with neurofibromatosis type 1 syndrome, has been poorly described but could guide treatment decision-making. In this report, we describe an adult case of a sporadic ONG wit
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