Molecular Alterations in Meningioangiomatosis Causing Epilepsy

Author:

Dono Antonio12ORCID,Pothiawala Azim Z1ORCID,Lewis Cole T1ORCID,Bhattacharjee Meenakshi B23ORCID,Ballester Leomar Y123ORCID,Tandon Nitin13ORCID

Affiliation:

1. Vivian L. Smith Department of Neurosurgery, McGovern Medical School, the University of Texas Health Science Center at Houston, Houston, Texas 77030, USA

2. Department of Pathology and Laboratory Medicine, McGovern Medical School, the University of Texas Health Science Center at Houston, Houston, Texas 77030, USA

3. Memorial Hermann Hospital-TMC, Houston, Texas 77030, USA

Abstract

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.

Funder

National Institutes of Health

Publisher

Oxford University Press (OUP)

Subject

Cellular and Molecular Neuroscience,Neurology (clinical),Neurology,General Medicine,Pathology and Forensic Medicine

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