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Genomic analysis reveals frequent TRAF7 mutations in intraneural perineuriomas

Intraneural perineuriomas are benign peripheral nerve sheath tumors that cause progressive debilitating focal extremity weakness. The etiology of perineuriomas is largely unknown. We utilized whole exome sequencing, copy number algorithm evaluation, and high‐resolution whole genome microarray to inv...

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Bibliographic Details
Published in:Annals of neurology 2017-02, Vol.81 (2), p.316-321
Main Authors: Klein, Christopher J., Wu, Yanhong, Jentoft, Mark E., Mer, Georges, Spinner, Robert J., Dyck, P. James B., Dyck, Peter J., Mauermann, Michelle L.
Format: Article
Language:English
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Summary:Intraneural perineuriomas are benign peripheral nerve sheath tumors that cause progressive debilitating focal extremity weakness. The etiology of perineuriomas is largely unknown. We utilized whole exome sequencing, copy number algorithm evaluation, and high‐resolution whole genome microarray to investigate for a genetic causal link to intraneural perineuriomas. Ten of 16 (60%) tumor cases had mutations in the WD40 domain of TRAF7, the same location for causal mutations of meningiomas. Two additional perineurioma cases had large chromosomal abnormalities in multiple chromosomes, including chromosome 22q. This study identifies a common cause for intraneural perineuriomas and an unexpected shared pathogenesis with intracranial meningiomas. Ann Neurol 2017;81:316–321
ISSN:0364-5134
1531-8249
DOI:10.1002/ana.24854