null genotype underpins recurrence of meningiomas.

INTRODUCTION

Meningiomas are the most common primary central nervous system (CNS) tumor in adults, comprising one-third of all primary adult CNS tumors. Although several recent publications have identified molecular alterations in meningioma including characteristic mutations, copy number alterations, and gene expression signatures, our understanding of the drivers of meningioma recurrence is limited.

OBJECTIVE

To identify gene expression signatures of 1p22qNF2 meningioma recurrence, with concurrent biallelic inactivation of and loss of chr1p that are heterogenous but enriched for recurrent meningiomas.

METHODS

Transcriptomic alterations present in recurrent versus primary 1p22qNF2 meningiomas were identified using RNA sequencing (RNA-seq) data in a clinically annotated cohort.

RESULTS

Recurrent 1p22qNF2 meningiomas were enriched for a newly identified null genotype compared to primary meningiomas that showed variable expression and independent external validation was performed.

CONCLUSIONS

The null genotype is a novel biomarker of 1p22qNF2 meningioma recurrence that resolves heterogeneity in existing meningioma subtypes and may be used to guide future clinical management decisions on extent of treatment to improve patient outcomes.