Pediatric optic nerve tumors
2024-12-05 Paola Dal Cin, PhD Affiliation1.Brigham and Women's Hospital , Harvard Medical School, Boston , MA (USA)
Keywords
Optic nerve gliomas, pilocytic astrocytomas,{KIAA1549::BRAF} fusion, {BRAF} (p.V600E) mutationsClassification
Definition
Optic nerve gliomas/Optic pathway gliomas (OPGS) of childhood are most found in patients with NF1. 1-3
The most frequent sporadic tumor is pilocytic astrocytomas (PA) which most frequently (~60%) exhibits a tandem ~2Mb duplication of chromosome 7q34, resulting in KIAA1549::BRAF fusion. 4 Additional BRAF gene partners have also been identified, all resulting in loss of the N-terminal regulatory region of the BRAF protein, with retention of the kinase domain. 5 Activating BRAF (p.V600E) mutations has been reported in ~10-15% of cases. 6
See more details in the CNS pediatric tumors section of WHO2022 Paediatric tumours , as well as on WHO WHO2021 Central nervous system tumours.
Article Bibliography
| Reference Number | Pubmed ID | Last Year | Title | Authors |
|---|---|---|---|---|
| 1 | 29246098 | 2018 | Optic Pathway Gliomas in Neurofibromatosis Type 1. | Campen CJ et al |
| 2 | 33480655 | 2021 | Vision Outcomes for Pediatric Patients With Optic Pathway Gliomas Associated With Neurofibromatosis Type I: A Systematic Review of the Clinical Evidence. | Thirunavu VM et al |
| 3 | 38837168 | 2024 | An Overview of Optic Pathway Glioma With Neurofibromatosis Type 1: Pathogenesis, Risk Factors, and Therapeutic Strategies. | Chen Y et al |
| 4 | 32289278 | 2020 | Integrated Molecular and Clinical Analysis of 1,000 Pediatric Low-Grade Gliomas. | Ryall S et al |
| 5 | 29141672 | 2017 | A novel GIT2-BRAF fusion in pilocytic astrocytoma. | Helgager J et al |
| 6 | 21274720 | 2011 | Analysis of BRAF V600E mutation in 1,320 nervous system tumors reveals high mutation frequencies in pleomorphic xanthoastrocytoma, ganglioglioma and extra-cerebellar pilocytic astrocytoma. | Schindler G et al |
Citation
Paola Dal Cin, PhD
Pediatric optic nerve tumors
Atlas Genet Cytogenet Oncol Haematol. 2024-12-05
Online version: http://atlasgeneticsoncology.org/solid-tumor/209300/pediatric-optic-nerve-tumors
