{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,15]],"date-time":"2026-10-15T03:14:35Z","timestamp":1792034075794,"version":"4.4.0"},"reference-count":50,"publisher":"Oxford University Press (OUP)","issue":"12","license":[{"start":{"date-parts":[[2023,7,12]],"date-time":"2023-07-12T00:00:00Z","timestamp":1689120000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"funder":[{"DOI":"10.13039\/100000054","name":"National Cancer Institute","doi-asserted-by":"publisher","award":["P50 CA097257"],"award-info":[{"award-number":["P50 CA097257"]}],"id":[{"id":"10.13039\/100000054","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000054","name":"National Cancer Institute","doi-asserted-by":"publisher","award":["F31 CA254067"],"award-info":[{"award-number":["F31 CA254067"]}],"id":[{"id":"10.13039\/100000054","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000054","name":"National Cancer Institute","doi-asserted-by":"publisher","award":["R01 CA163336"],"award-info":[{"award-number":["R01 CA163336"]}],"id":[{"id":"10.13039\/100000054","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100005972","name":"German Cancer Aid","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100005972","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2023,12,8]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:sec>\n                  <jats:title>Background<\/jats:title>\n                  <jats:p>Schwannomas are common peripheral nerve sheath tumors that can cause severe morbidity given their stereotypic intracranial and paraspinal locations. Similar to many solid tumors, schwannomas and other nerve sheath tumors are primarily thought to arise due to aberrant hyperactivation of the RAS growth factor signaling pathway. Here, we sought to further define the molecular pathogenesis of schwannomas.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Methods<\/jats:title>\n                  <jats:p>We performed comprehensive genomic profiling on a cohort of 96 human schwannomas, as well as DNA methylation profiling on a subset. Functional studies including RNA sequencing, chromatin immunoprecipitation-DNA sequencing, electrophoretic mobility shift assay, and luciferase reporter assays were performed in a fetal glial cell model following transduction with wildtype and tumor-derived mutant isoforms of SOX10.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Results<\/jats:title>\n                  <jats:p>We identified that nearly one-third of sporadic schwannomas lack alterations in known nerve sheath tumor genes and instead harbor novel recurrent in-frame insertion\/deletion mutations in SOX10, which encodes a transcription factor responsible for controlling Schwann cell differentiation and myelination. SOX10 indel mutations were highly enriched in schwannomas arising from nonvestibular cranial nerves (eg facial, trigeminal, vagus) and were absent from vestibular nerve schwannomas driven by NF2 mutation. Functional studies revealed these SOX10 indel mutations have retained DNA binding capacity but impaired transactivation of glial differentiation and myelination gene programs.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Conclusions<\/jats:title>\n                  <jats:p>We thus speculate that SOX10 indel mutations drive a unique subtype of schwannomas by impeding proper differentiation of immature Schwann cells.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1093\/neuonc\/noad121","type":"journal-article","created":{"date-parts":[[2023,7,12]],"date-time":"2023-07-12T17:47:48Z","timestamp":1689184068000},"page":"2221-2236","source":"Crossref","is-referenced-by-count":32,"title":["Novel <i>SOX10<\/i> indel mutations drive schwannomas through impaired transactivation of myelination gene programs"],"prefix":"10.1093","volume":"25","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-9190-2450","authenticated-orcid":false,"given":"Erik A","family":"Williams","sequence":"first","affiliation":[{"name":"Department of Pathology, University of California, San Francisco , San Francisco, California , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ajay","family":"Ravindranathan","sequence":"additional","affiliation":[{"name":"Department of Pathology, University of California, San Francisco , San Francisco, California , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rohit","family":"Gupta","sequence":"additional","affiliation":[{"name":"Department of Pathology, University of California, San Francisco , San Francisco, California , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1082-6423","authenticated-orcid":false,"given":"Nicholas O","family":"Stevers","sequence":"additional","affiliation":[{"name":"Department of Neurological Surgery, University of California, San Francisco , San Francisco, California , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Abigail K","family":"Suwala","sequence":"additional","affiliation":[{"name":"Department of Neurological Surgery, University of California, San Francisco , San Francisco, California , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chibo","family":"Hong","sequence":"additional","affiliation":[{"name":"Department of Neurological Surgery, University of California, San Francisco , San Francisco, California , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Somang","family":"Kim","sequence":"additional","affiliation":[{"name":"Department of Physics and Carl R. Woese Institute for Genomic Biology, University of Illinois at Urbana-Champaign , Urbana, Illinois , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jimmy Bo","family":"Yuan","sequence":"additional","affiliation":[{"name":"Department of Physics and Carl R. Woese Institute for Genomic Biology, University of Illinois at Urbana-Champaign , Urbana, Illinois , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jasper","family":"Wu","sequence":"additional","affiliation":[{"name":"Department of Pathology, University of California, San Francisco , San Francisco, California , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jairo","family":"Barreto","sequence":"additional","affiliation":[{"name":"Department of Pathology, University of California, San Francisco , San Francisco, California , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Calixto-Hope G","family":"Lucas","sequence":"additional","affiliation":[{"name":"Department of Pathology, University of California, San Francisco , San Francisco, California , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emily","family":"Chan","sequence":"additional","affiliation":[{"name":"Department of Pathology, University of California, San Francisco , San Francisco, California , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Melike","family":"Pekmezci","sequence":"additional","affiliation":[{"name":"Department of Pathology, University of California, San Francisco , San Francisco, California , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Philip E","family":"LeBoit","sequence":"additional","affiliation":[{"name":"Department of Pathology, University of California, San Francisco , San Francisco, California , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thaddeus","family":"Mully","sequence":"additional","affiliation":[{"name":"Department of Pathology, University of California, San Francisco , San Francisco, California , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Arie","family":"Perry","sequence":"additional","affiliation":[{"name":"Department of Pathology, University of California, San Francisco , San Francisco, 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T","family":"Reddy","sequence":"additional","affiliation":[{"name":"Departments of Neurology and Pediatrics, University of California, San Francisco , San Francisco, California , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9539-7052","authenticated-orcid":false,"given":"Nalin","family":"Gupta","sequence":"additional","affiliation":[{"name":"Department of Neurological Surgery, University of California, San Francisco , San Francisco, California , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kristen M","family":"Basnet","sequence":"additional","affiliation":[{"name":"Vista Pathology Laboratory , Medford, Oregon , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robert J B","family":"Macaulay","sequence":"additional","affiliation":[{"name":"Department of Pathology, Moffitt Cancer Center , Tampa, Florida , 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C","family":"Pavlick","sequence":"additional","affiliation":[{"name":"Foundation Medicine, Inc. , Cambridge, Massachusetts , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Garrett M","family":"Frampton","sequence":"additional","affiliation":[{"name":"Foundation Medicine, Inc. , Cambridge, Massachusetts , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tyler","family":"Janovitz","sequence":"additional","affiliation":[{"name":"Foundation Medicine, Inc. , Cambridge, Massachusetts , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jeffrey S","family":"Ross","sequence":"additional","affiliation":[{"name":"Foundation Medicine, Inc. , Cambridge, Massachusetts , USA"},{"name":"Department of Pathology, State University of New York Upstate Medical University , Syracuse, New York , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Susan M","family":"Chang","sequence":"additional","affiliation":[{"name":"Department 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