{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,8]],"date-time":"2026-03-08T21:03:35Z","timestamp":1773003815647,"version":"3.50.1"},"reference-count":27,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2026,2,9]],"date-time":"2026-02-09T00:00:00Z","timestamp":1770595200000},"content-version":"vor","delay-in-days":8,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2026,2,1]],"date-time":"2026-02-01T00:00:00Z","timestamp":1769904000000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Euro J of Neurology"],"published-print":{"date-parts":[[2026,2]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>Intraneural perineurioma (INP) is a rare, benign peripheral nerve sheath tumour that typically presents in adolescence or early adulthood as a slowly progressive, motor\u2010predominant mononeuropathy or plexopathy. Although its clinicoradiological and histopathological features are well characterised, the genetic basis remains incompletely defined.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>We retrospectively analysed 10 patients with histologically confirmed INP diagnosed between February 2015 and December 2024. Demographic and clinical data, MRI\/MR neurography findings and histopathology (immunohistochemistry and electron microscopy) were analysed. Targeted Sanger sequencing of TRAF7 exons 17\u201318 (WD40 domain) was performed. Interphase FISH with an EWSR1 (22q12) probe was performed on archival FFPE tissue in a subset.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      All patients exhibited progressive motor deficits, with at least one muscle group graded \u2264\u20092 on the MRC scale. Sensory symptoms were present in 8\/10 and pain in 4\/10. MRI demonstrated fusiform nerve enlargement and homogeneous gadolinium enhancement in all cases, with T2 hyperintensity in 9\/10. A pathogenic\n                      <jats:italic>TRAF7<\/jats:italic>\n                      p.His521Arg variant was identified in 2\/9 evaluable tumours (22.2%). Tendon transfer was performed in 7\/10 patients as a reconstructive strategy to improve motor function, resulting in heterogeneous functional outcomes.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Interpretation<\/jats:title>\n                    <jats:p>\n                      The MRI triad of fusiform enlargement, T2 hyperintensity and homogeneous enhancement strongly supports INP diagnosis and may obviate biopsy in typical cases. Our hotspot\u2010limited assay detected\n                      <jats:italic>TRAF7<\/jats:italic>\n                      mutations in only 22.2%, underscoring methodological limitations and probable genetic heterogeneity. Despite an indolent imaging appearance, INP frequently causes severe functional impairment requiring reconstructive surgery. Early recognition, structured functional monitoring and risk\u2010adapted intervention are essential to optimise outcomes.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1111\/ene.70519","type":"journal-article","created":{"date-parts":[[2026,2,9]],"date-time":"2026-02-09T09:04:41Z","timestamp":1770627881000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["The\n                    <scp>PERISCOPE<\/scp>\n                    Cohort: A Retrospective Study of Clinicopathological and\n                    <scp>TRAF7<\/scp>\n                    Genetic Findings in Intraneural Perineurioma"],"prefix":"10.1111","volume":"33","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-7763-7745","authenticated-orcid":false,"given":"Eduardo Boiteux Uch\u00f4a","family":"Cavalcanti","sequence":"first","affiliation":[{"name":"Department of Neurology Rede SARAH de Hospitais de Reabilita\u00e7\u00e3o  Bras\u00edlia Distrito Federal Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7373-1064","authenticated-orcid":false,"given":"Alessandra de La Rocque","family":"Ferreira","sequence":"additional","affiliation":[{"name":"Molecular Pathology Laboratory Rede SARAH de Hospitais de Reabilita\u00e7\u00e3o  Bras\u00edlia Distrito Federal Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0009-0669-1192","authenticated-orcid":false,"given":"Nilo Sakai","family":"J\u00fanior","sequence":"additional","affiliation":[{"name":"Molecular Pathology Laboratory Rede SARAH de Hospitais de Reabilita\u00e7\u00e3o  Bras\u00edlia Distrito Federal Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7866-4400","authenticated-orcid":false,"given":"Francineide Sadala","family":"de Souza","sequence":"additional","affiliation":[{"name":"Department of Surgical Pathology Rede SARAH de Hospitais de Reabilita\u00e7\u00e3o  Bras\u00edlia Distrito Federal Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0007-7577-8860","authenticated-orcid":false,"given":"Heveline Becker","family":"de Moura","sequence":"additional","affiliation":[{"name":"Department of Surgical Pathology Rede SARAH de Hospitais de Reabilita\u00e7\u00e3o  Bras\u00edlia Distrito Federal Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9711-6610","authenticated-orcid":false,"given":"Eni Braga Da","family":"Silveira","sequence":"additional","affiliation":[{"name":"Department of Surgical Pathology Rede SARAH de Hospitais de Reabilita\u00e7\u00e3o  Bras\u00edlia Distrito Federal Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0005-1873-3872","authenticated-orcid":false,"given":"Graciela Maria Barbosa Lacerda","family":"Martins","sequence":"additional","affiliation":[{"name":"Department of Radiology Rede SARAH de Hospitais de Reabilita\u00e7\u00e3o  Bras\u00edlia Distrito Federal Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1330-018X","authenticated-orcid":false,"given":"Marcio de Mendon\u00e7a","family":"Cardoso","sequence":"additional","affiliation":[{"name":"Department of Neurosurgery Rede SARAH de Hospitais de Reabilita\u00e7\u00e3o  Bras\u00edlia Distrito Federal Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2026,2,9]]},"reference":[{"key":"e_1_2_12_2_1","volume-title":"Soft Tissue and Bone Tumours","author":"Organisation mondiale de la sant\u00e9, Centre international de recherche sur le cancer","year":"2020"},{"key":"e_1_2_12_3_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awp169"},{"key":"e_1_2_12_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.wneu.2021.07.042"},{"key":"e_1_2_12_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/0022\u2010510X(64)90011\u20105"},{"key":"e_1_2_12_6_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00381\u2010016\u20103089\u2010z"},{"key":"e_1_2_12_7_1","doi-asserted-by":"publisher","DOI":"10.1186\/s12883\u2010020\u201001637\u2010z"},{"key":"e_1_2_12_8_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00701\u2010023\u201005765\u20106"},{"key":"e_1_2_12_9_1","doi-asserted-by":"publisher","DOI":"10.11604\/pamj.2018.30.275.16072"},{"key":"e_1_2_12_10_1","doi-asserted-by":"publisher","DOI":"10.1055\/s\u20100041\u20101726110"},{"key":"e_1_2_12_11_1","doi-asserted-by":"publisher","DOI":"10.5858\/2007\u2010131\u20101382\u2010IPASRW"},{"issue":"6","key":"e_1_2_12_12_1","first-page":"3347","article-title":"Intraneural Perineurioma Affecting Multiple Nerves: A Case Report and Literature Review","volume":"7","author":"Wang L. 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