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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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| Published in: | Annals of neurology 2017-02, Vol.81 (2), p.316-321 |
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| container_end_page | 321 |
| container_issue | 2 |
| container_start_page | 316 |
| container_title | Annals of neurology |
| container_volume | 81 |
| creator | Klein, Christopher J. Wu, Yanhong Jentoft, Mark E. Mer, Georges Spinner, Robert J. Dyck, P. James B. Dyck, Peter J. Mauermann, Michelle L. |
| description | 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 |
| doi_str_mv | 10.1002/ana.24854 |
| format | article |
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James B. ; Dyck, Peter J. ; Mauermann, Michelle L.</creator><creatorcontrib>Klein, Christopher J. ; Wu, Yanhong ; Jentoft, Mark E. ; Mer, Georges ; Spinner, Robert J. ; Dyck, P. James B. ; Dyck, Peter J. ; Mauermann, Michelle L.</creatorcontrib><description>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. 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James B.</creatorcontrib><creatorcontrib>Dyck, Peter J.</creatorcontrib><creatorcontrib>Mauermann, Michelle L.</creatorcontrib><title>Genomic analysis reveals frequent TRAF7 mutations in intraneural perineuriomas</title><title>Annals of neurology</title><addtitle>Ann Neurol</addtitle><description>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</description><subject>Abnormalities</subject><subject>Adolescent</subject><subject>Adult</subject><subject>Child</subject><subject>Child, Preschool</subject><subject>Chromosome 22</subject><subject>Chromosomes</subject><subject>Copy number</subject><subject>Etiology</subject><subject>Exome</subject><subject>Female</subject><subject>Gene sequencing</subject><subject>Genomes</subject><subject>Genomic analysis</subject><subject>Genomics</subject><subject>Humans</subject><subject>Male</subject><subject>Middle Aged</subject><subject>Mutation</subject><subject>Nerve Sheath Neoplasms - genetics</subject><subject>Pathogenesis</subject><subject>Tumor Necrosis Factor Receptor-Associated Peptides and Proteins - genetics</subject><subject>Tumors</subject><issn>0364-5134</issn><issn>1531-8249</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2017</creationdate><recordtype>article</recordtype><recordid>eNqNkV1rFDEUhoModq1e-AdkwBu9mPbkO7kRlmI_oFSQeh3SmRNNmZmsyUxl_71ZtxYVFCGQQJ485D0vIS8pHFEAduwnf8SEkeIRWVHJaWuYsI_JCrgSraRcHJBnpdwCgFUUnpIDZoBaJWFFrs5wSmPsmuoYtiWWJuMd-qE0IePXBae5uf64PtXNuMx-jmkqTZzqmrOfcMl-aDaY4-4Y0-jLc_Ik1Mf44n4_JJ9O31-fnLeXH84uTtaXbSc1iJYyGYIFRENVCEoqCyF4yrlWPbWylyCspvqmZ0bRDgVjAoUSUgTVdwaQH5J3e-9muRmx73D3ocFtchx93rrko_v9Zopf3Od056Rmsiavgjf3gpxqzDK7MZYOh6HGSktx1GhtuLTS_gcqOVcAXFT09R_obVpynWylrOaaaabYPymjwVAh-I56u6e6nErJGB7SUXC72l2tzP2ovbKvfh3HA_mz5woc74FvccDt301ufbXeK78Dxnu1Rw</recordid><startdate>201702</startdate><enddate>201702</enddate><creator>Klein, Christopher J.</creator><creator>Wu, Yanhong</creator><creator>Jentoft, Mark E.</creator><creator>Mer, Georges</creator><creator>Spinner, Robert J.</creator><creator>Dyck, P. 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James B.</au><au>Dyck, Peter J.</au><au>Mauermann, Michelle L.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Genomic analysis reveals frequent TRAF7 mutations in intraneural perineuriomas</atitle><jtitle>Annals of neurology</jtitle><addtitle>Ann Neurol</addtitle><date>2017-02</date><risdate>2017</risdate><volume>81</volume><issue>2</issue><spage>316</spage><epage>321</epage><pages>316-321</pages><issn>0364-5134</issn><eissn>1531-8249</eissn><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. 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| subjects | Abnormalities Adolescent Adult Child Child, Preschool Chromosome 22 Chromosomes Copy number Etiology Exome Female Gene sequencing Genomes Genomic analysis Genomics Humans Male Middle Aged Mutation Nerve Sheath Neoplasms - genetics Pathogenesis Tumor Necrosis Factor Receptor-Associated Peptides and Proteins - genetics Tumors |
| title | Genomic analysis reveals frequent TRAF7 mutations in intraneural perineuriomas |
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