Novel germline and somatic variants in familial and sporadic meningioma genes

Meningiomas arise from arachnoid cells in the meninges surrounding the brain and spinal cord and are attributed to NF2 pathogenic variants in, approximately 60% of cases. Using exome sequencing, we found heterozygous germline variants in nine potential novel meningioma genes across four families and four sporadic cases. We then screened for germline and somatic variants in these genes and 11 known meningioma genes in 76 sporadic meningiomas blood/tumor pairs. We identified 18 germline and 58 somatic variants in 18 of the 20 genes, including seven of our newly proposed meningioma genes: CSMD3, EXTL3, FAT3, RAB44, RARA, RECQL4, and TNRC6A. Chromosomal abnormalities were identified in 39 of 49 tumors that also carried germline or somatic variants, with 71.8% encompassing NF2. This study provides potential novel genetic risk factors of meningiomas appropriate for further exploration from the greater scientific community and pathways to consider in the design of future therapeutic approaches.

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Publication Details

Journal
npj Genomic Medicine
Published
2025-05-15
DOI
https://doi.org/10.1038/s41525-025-00494-4
Primary Topic
Meningioma and schwannoma management
Type
article
Field-Weighted Citation Impact
0.00

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article

Novel germline and somatic variants in familial and sporadic meningioma genes

Guy Armand Rouleau, Jaber Lyahyai, Julie Gauthier, Allison A. Dilliott et al.
npj Genomic Medicine
Meningioma and schwannoma management
article

Novel germline and somatic variants in familial and sporadic meningioma genes

Guy Armand Rouleau, Jaber Lyahyai, Julie Gauthier, Allison A. Dilliott, Patrick A. Dion, Sali M.K. Farhan, Amirthagowri Ambalavanan, Dan Spiegelman, Jörn Peter Sieb, Robert L. Martuza, Sandra B. Laurent, Alexandre Dionne-Laporte, Stefan‐M. Pulst, Bouchra Ouled Amar Bencheikh
article en

Abstract

Meningiomas arise from arachnoid cells in the meninges surrounding the brain and spinal cord and are attributed to NF2 pathogenic variants in, approximately 60% of cases. Using exome sequencing, we found heterozygous germline variants in nine potential novel meningioma genes across four families and four sporadic cases. We then screened for germline and somatic variants in these genes and 11 known meningioma genes in 76 sporadic meningiomas blood/tumor pairs. We identified 18 germline and 58 somatic variants in 18 of the 20 genes, including seven of our newly proposed meningioma genes: CSMD3, EXTL3, FAT3, RAB44, RARA, RECQL4, and TNRC6A. Chromosomal abnormalities were identified in 39 of 49 tumors that also carried germline or somatic variants, with 71.8% encompassing NF2. This study provides potential novel genetic risk factors of meningiomas appropriate for further exploration from the greater scientific community and pathways to consider in the design of future therapeutic approaches.

npj Genomic MedicineVol. 10(1)
Mohammed V University (MA), Montreal Neurological Institute and Hospital (CA), Harvard University (US), University of Utah (US), University Hospital Bonn (DE), McGill University Health Centre (CA), Centre Hospitalier Universitaire Sainte-Justine (CA), Massachusetts General Hospital (US), University of Applied Sciences Stralsund (DE), McGill University (CA)
Canadian Institutes of Health Research
Zero hunger
Openalex Percentile: Top 84%
Meningioma and schwannoma management
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