title: Genomic analysis reveals frequent TRAF7 mutations in intraneural perineuriomas.
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.
authors.affiliation: Department of Neurology, Mayo Clinic, Rochester, MN.|Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN.|Department of Medical Genetics, Mayo Clinic, Rochester, MN.
authors.forename: Christopher J
authors.initials: CJ
authors.lastname: Klein
authors.affiliation: Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN.
authors.forename: Yanhong
authors.initials: Y
authors.lastname: Wu
authors.affiliation: Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN.
authors.forename: Mark E
authors.initials: ME
authors.lastname: Jentoft
authors.affiliation: Department of Biochemistry and Molecular Biology, Mayo Clinic, Rochester, MN.
authors.forename: Georges
authors.initials: G
authors.lastname: Mer
authors.affiliation: Department of Neurosurgery, Mayo Clinic, Rochester, MN.
authors.forename: Robert J
authors.initials: RJ
authors.lastname: Spinner
authors.affiliation: Department of Neurology, Mayo Clinic, Rochester, MN.
authors.forename: P James B
authors.initials: PJ
authors.lastname: Dyck
authors.affiliation: Department of Neurology, Mayo Clinic, Rochester, MN.
authors.forename: Peter J
authors.initials: PJ
authors.lastname: Dyck
authors.affiliation: Department of Neurology, Mayo Clinic, Rochester, MN.
authors.forename: Michelle L
authors.initials: ML
authors.lastname: Mauermann
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D059472:Exome; D005260:Female; D023281:Genomics; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D018317:Nerve Sheath Neoplasms / Q000235:genetics*; D047988:Tumor Necrosis Factor Receptor-Associated Peptides and Proteins / Q000235:genetics*
chemical_list: C486460:TRAF7 protein, human; D047988:Tumor Necrosis Factor Receptor-Associated Peptides and Proteins