Optic nerve sheath meningiomas harbor distinct genetic variants
Year: 2025
Type: article
Study design: Observational Study
Abstract: 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.
DOI: 10.1093/ajcp/aqaf139
Institutions: University of California, Los Angeles, University of California, San Francisco, University of California San Francisco Medical Center, University of Milan, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, University of Minnesota, Johns Hopkins University, Duke University, Duke Medical Center, Columbia University Irving Medical Center, Columbia University, The University of Queensland
Language: English
Subfield: Epidemiology
Field: Medicine
Domain: Health Sciences
Open Access status: green
OpenAlex ID: W7129230366