Journal
NATURE GENETICS
Volume 45, Issue 3, Pages 295-298Publisher
NATURE PUBLISHING GROUP
DOI: 10.1038/ng.2552
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Funding
- Young Investigator Award from the Children's Tumor Foundation [2011-01-006]
- Association for International Cancer Research [12-0275]
- Manchester Biomedical Research Centre
- Lung GO Sequencing Project [HL-102923]
- Women's Health Initiative (WHI) Sequencing Project [HL-102924]
- Broad GO Sequencing Project [HL-102925]
- Seattle GO Sequencing Project [HL-102926]
- Heart GO Sequencing Project [HL-103010]
- Worldwide Cancer Research [12-0275] Funding Source: researchfish
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One-third of all primary central nervous system tumors in adults are meningiomas(1). Rarely, meningiomas occur at multiple sites, usually occurring in individuals with type 2 neurofibromatosis (NF2). We sequenced the exomes of three unrelated individuals with familial multiple spinal meningiomas without NF2 mutations. We identified two individuals with heterozygous loss-of-function mutations in the SWI/SNF chromatin-remodeling complex subunit gene SMARCE1. Sequencing of SMARCE1 in six further individuals with spinal meningiomas identified two additional heterozygous loss-of-function mutations. Tumors from individuals with SMARCE1 mutations were of clear-cell histological subtype, and all had loss of SMARCE1 protein, consistent with a tumor suppressor mechanism. Our findings identify multiple-spinal-meningioma disease as a new discrete entity and establish a key role for the SWI/SNF complex in the pathogenesis of both meningiomas and tumors with clear-cell histology.
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