Pediatric optic nerve tumors

2024-12-05   Paola Dal Cin, PhD 

1.Brigham and Women's Hospital , Harvard Medical School, Boston , MA (USA)

Keywords
Optic nerve gliomas, pilocytic astrocytomas,{KIAA1549::BRAF} fusion, {BRAF} (p.V600E) mutations

Classification

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 NumberPubmed IDLast YearTitleAuthors
1292460982018Optic Pathway Gliomas in Neurofibromatosis Type 1.Campen CJ et al
2334806552021Vision Outcomes for Pediatric Patients With Optic Pathway Gliomas Associated With Neurofibromatosis Type I: A Systematic Review of the Clinical Evidence.Thirunavu VM et al
3388371682024An Overview of Optic Pathway Glioma With Neurofibromatosis Type 1: Pathogenesis, Risk Factors, and Therapeutic Strategies.Chen Y et al
4322892782020Integrated Molecular and Clinical Analysis of 1,000 Pediatric Low-Grade Gliomas.Ryall S et al
5291416722017A novel GIT2-BRAF fusion in pilocytic astrocytoma.Helgager J et al
6212747202011Analysis 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