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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...
Autores principales: | , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Springer Singapore
2020
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7585354/ https://www.ncbi.nlm.nih.gov/pubmed/33098465 http://dx.doi.org/10.1007/s10014-020-00383-x |
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author | Hong, Christopher S. Fliney, Greg Fisayo, Adeniyi An, Yi Gopal, Pallavi P. Omuro, Antonio Pointdujour-Lim, Renelle Erson-Omay, E. Zeynep Omay, S. Bulent |
author_facet | Hong, Christopher S. Fliney, Greg Fisayo, Adeniyi An, Yi Gopal, Pallavi P. Omuro, Antonio Pointdujour-Lim, Renelle Erson-Omay, E. Zeynep Omay, S. Bulent |
author_sort | Hong, Christopher S. |
collection | PubMed |
description | 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. |
format | Online Article Text |
id | pubmed-7585354 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2020 |
publisher | Springer Singapore |
record_format | MEDLINE/PubMed |
spelling | pubmed-75853542020-10-26 Genetic characterization of an aggressive optic nerve pilocytic glioma Hong, Christopher S. Fliney, Greg Fisayo, Adeniyi An, Yi Gopal, Pallavi P. Omuro, Antonio Pointdujour-Lim, Renelle Erson-Omay, E. Zeynep Omay, S. Bulent Brain Tumor Pathol Case Report 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. Springer Singapore 2020-10-24 2021 /pmc/articles/PMC7585354/ /pubmed/33098465 http://dx.doi.org/10.1007/s10014-020-00383-x Text en © The Japan Society of Brain Tumor Pathology 2020 This article is made available via the PMC Open Access Subset for unrestricted research re-use and secondary analysis in any form or by any means with acknowledgement of the original source. These permissions are granted for the duration of the World Health Organization (WHO) declaration of COVID-19 as a global pandemic. |
spellingShingle | Case Report Hong, Christopher S. Fliney, Greg Fisayo, Adeniyi An, Yi Gopal, Pallavi P. Omuro, Antonio Pointdujour-Lim, Renelle Erson-Omay, E. Zeynep Omay, S. Bulent Genetic characterization of an aggressive optic nerve pilocytic glioma |
title | Genetic characterization of an aggressive optic nerve pilocytic glioma |
title_full | Genetic characterization of an aggressive optic nerve pilocytic glioma |
title_fullStr | Genetic characterization of an aggressive optic nerve pilocytic glioma |
title_full_unstemmed | Genetic characterization of an aggressive optic nerve pilocytic glioma |
title_short | Genetic characterization of an aggressive optic nerve pilocytic glioma |
title_sort | genetic characterization of an aggressive optic nerve pilocytic glioma |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7585354/ https://www.ncbi.nlm.nih.gov/pubmed/33098465 http://dx.doi.org/10.1007/s10014-020-00383-x |
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