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Optic nerve sheath meningiomas harbor distinct genetic variants
Samuel W Hulbert1,2, Gianluca Lopez1,3,4, Liam Chen5
1University of California, Los Angeles, CA, United States.
Objective:
Both primary optic nerve sheath meningiomas (pONSMs) and secondary optic nerve sheath meningiomas (sONSMs) pose clinical challenges because standard treatments such as surgical debulking and radiation therapy can further damage the optic nerve, producing permanent visual loss. The molecular pathology of primary skull base meningiomas is becoming clearer. However, by comparison, pONSMs and sONSMs have not been studied adequately with contemporary high-throughput molecular genetic techniques, which is the primary aim of this study. This is a crucial issue because these tumors may harbor distinct genetic alterations that render them susceptible to targeted therapy, allowing for vision preservation or even visual improvement.
Methods:
A total of 18 optic nerve sheath meningiomas, of which 11 were pONSMs and 7 were sONSMs, were obtained from 3 different institutions and underwent next-generation sequencing.
Results:
We found that pONSMs and sONSMs harbor gene variants previously identified in other meningiomas but also distinct alterations in genes implicated in cell signaling, transcriptional regulation, and DNA damage repair.
Conclusions:
These findings expand our understanding of a relatively understudied specific meningioma with unique therapeutic challenges.
Insights
Primary and secondary optic nerve sheath meningiomas (pONSMs and sONSMs) show distinct genetic alterations. This research may lead to targeted therapies for vision preservation in patients with these challenging tumors.
Area of Science:
- Neuro-oncology
- Molecular genetics
- Ophthalmology
Background:
- Optic nerve sheath meningiomas (pONSMs and sONSMs) present significant clinical challenges due to treatment-related visual loss.
- Standard treatments like surgery and radiation risk further optic nerve damage.
- The molecular pathology of pONSMs and sONSMs is not well understood compared to other meningiomas.
Purpose of the Study:
- To investigate the molecular genetic landscape of primary and secondary optic nerve sheath meningiomas using high-throughput techniques.
- To identify distinct genetic alterations in pONSMs and sONSMs that could be targeted for therapy.
- To explore potential avenues for vision preservation or improvement in patients with these tumors.
Main Methods:
- Next-generation sequencing was performed on 18 optic nerve sheath meningiomas (11 pONSMs, 7 sONSMs).
- Tumor samples were sourced from three distinct institutions.
- Comparative molecular analysis was conducted between pONSMs and sONSMs.
Main Results:
- Both pONSMs and sONSMs exhibited known gene variants found in other meningiomas.
- Distinct genetic alterations were identified in genes related to cell signaling, transcriptional regulation, and DNA damage repair.
- These findings highlight potential molecular differences between primary and secondary optic nerve sheath meningiomas.
Conclusions:
- The study provides novel insights into the molecular genetics of optic nerve sheath meningiomas.
- Identified genetic alterations expand the understanding of these understudied tumors.
- Findings may pave the way for developing targeted therapies to address unique therapeutic challenges and preserve vision.
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