Molecular Alterations in Meningioangiomatosis Causing Epilepsy
- 27 September 2021
- journal article
- research article
- Published by Oxford University Press (OUP) in Journal of Neuropathology and Experimental Neurology
- Vol. 80 (11), 1043-1051
- https://doi.org/10.1093/jnen/nlab095
Abstract
Meningioangiomatosis (MA) is a rare process at the intersection of cerebral developmental and neoplastic disorders that often results in epilepsy. We evaluated molecular alterations in MA to characterize its biology and pathogenesis. We searched a comprehensive institutional database for patients with MA treated between 2004 and 2019. Demographic, clinical, surgical, and radiographical data were collected. MA and associated meningioma tissues were evaluated using a next-generation sequencing assay interrogating 1425 cancer-related genes. We studied 5 cases: 3 with MA and 2 with MA associated with a meningioma. Of the MAs associated with a meningioma, 1 had deletions in the NF2 gene in both the MA and the meningioma components, whereas the other had an NF2 deletion in only the MA component. Additional mutations were identified in the MA components, suggesting that MA arises from the meningioma rather than the meningioma resulting from a transformation of the MA. The 3 cases of pure MA showed variants of unknown significance with no alterations in known oncogenic drivers. Our findings provide a starting point to a better understanding of the pathogenesis of this rare lesion. Our study indicates that MA-meningiomas have a neoplastic nature that differs from the hamartomatous/developmental nature of pure MA.Keywords
Funding Information
- NINDS
- NIDCD
- UT Stars
- Medtronic
- National Cancer Institute (K08CA241651)
- National Institutes of Health
This publication has 38 references indexed in Scilit:
- Meningioangiomatosis: A Case Report and Literature Review Emphasizing Diverse Appearance on Different Imaging ModalitiesCase Reports in Neurological Medicine, 2011
- Sporadic meningioangiomatosis-associated atypical meningioma mimicking parenchymal invasion of brain: a case report and review of the literatureDiagnostic Pathology, 2010
- A novel microdeletion syndrome involving 5q14.3-q15: clinical and molecular cytogenetic characterization of three patientsEuropean Journal of Human Genetics, 2009
- Insights into Meningioangiomatosis with and without Meningioma: A Clinicopathologic and Genetic Series of 24 Cases with Review of the LiteratureBrain Pathology, 2006
- Sudden, Unexpected Death Associated with Meningioangiomatosis: Case ReportPediatric and Developmental Pathology, 2005
- Meningioangiomatosis Occurring in a Young Male Without NeurofibromatosisThe American Journal of Surgical Pathology, 2002
- Proposal for a New Classification of Outcome with Respect to Epileptic Seizures Following Epilepsy SurgeryEpilepsia, 2001
- MeningioangiomatosisBrain, 1999
- Meningioangiomatosis of the brain stemJournal of Neurosurgery, 1994
- Intractable complex partial seizures associated with occult temporal lobe encephalocele and meningoangiomatosis: A case reportSurgical Neurology, 1990