Genomic analysis reveals frequent TRAF7 mutations in intraneural perineuriomas

Christopher Jon Klein, Yanhong Wu, Mark E. Jentoft, Georges Mer, Robert J. Spinner, P. James B Dyck, Peter J Dyck, Michelle M Mauermann

Research output: Contribution to journalArticle

12 Scopus citations

Abstract

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.

Original languageEnglish (US)
Pages (from-to)316-321
Number of pages6
JournalAnnals of Neurology
Volume81
Issue number2
DOIs
StatePublished - Feb 1 2017

ASJC Scopus subject areas

  • Neurology
  • Clinical Neurology

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