期刊
JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY
卷 80, 期 11, 页码 1043-1051出版社
OXFORD UNIV PRESS INC
DOI: 10.1093/jnen/nlab095
关键词
Epilepsy; Meningioma; Meningioangiomatosis; Molecular alterations; NF2
资金
- National Cancer Institute of the National Institutes of Health [K08CA241651]
The study evaluated molecular alterations in Meningioangiomatosis (MA) and found that some MAs may arise from meningiomas rather than transform into meningiomas. Although known oncogenic drivers were not detected in the 3 cases of pure MA, MA-meningiomas exhibit a neoplastic nature.
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.
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