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Molecular Alterations in Meningioangiomatosis Causing Epilepsy

Antonio Dono1,2, Azim Z Pothiawala1, Cole T Lewis1

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

Journal of Neuropathology and Experimental Neurology
|September 28, 2021
PubMed

Insights

Meningioangiomatosis (MA) is a rare brain disorder. Molecular analysis suggests MA-meningiomas are neoplastic, while pure MA appears hamartomatous, offering insights into pathogenesis.

Area of Science:

  • Neuro-oncology
  • Developmental Neuroscience
  • Molecular Pathology

Background:

  • Meningioangiomatosis (MA) is a rare condition at the nexus of developmental and neoplastic brain disorders.
  • MA frequently presents with epilepsy and poses diagnostic challenges.
  • Understanding the molecular basis of MA is crucial for elucidating its pathogenesis.

Purpose of the Study:

  • To investigate the molecular alterations in meningioangiomatosis (MA) and associated meningiomas.
  • To differentiate the biological nature of pure MA versus MA associated with meningioma.
  • To characterize the pathogenesis of this rare cerebrovascular lesion.

Main Methods:

  • Retrospective analysis of 5 cases (3 pure MA, 2 MA-meningioma) diagnosed between 2004-2019.
  • Comprehensive data collection including demographics, clinical, surgical, and radiological information.
  • Next-generation sequencing of 1425 cancer-related genes in MA and meningioma tissues.

Main Results:

  • MA-meningioma cases exhibited NF2 gene deletions in MA and/or meningioma components.
  • Additional mutations in MA components suggest MA originates from the meningioma.
  • Pure MA cases showed variants of unknown significance without known oncogenic driver alterations.
  • Findings indicate distinct molecular profiles for MA-meningioma and pure MA.

Conclusions:

  • MA-meningiomas possess a neoplastic character distinct from the hamartomatous/developmental nature of pure MA.
  • The study provides a foundation for understanding MA pathogenesis.
  • Molecular profiling is key to differentiating MA subtypes and informing clinical management.
Keywords:
NF2EpilepsyMeningioangiomatosisMeningiomaMolecular alterations

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