{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,24]],"date-time":"2025-11-24T12:35:21Z","timestamp":1763987721368},"reference-count":9,"publisher":"Journal of Neurosurgery Publishing Group (JNSPG)","issue":"6","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["JNS"],"published-print":{"date-parts":[[2016,12]]},"abstract":"The presence of vestibular schwannomas has long been considered an exclusion criterion for the diagnosis of schwannomatosis. Recently, 2 cases of vestibular schwannoma were reported in patients with schwannomatosis, leading to a revision of the diagnostic criteria for this genetic disorder. Overall, the relative infrequency of vestibular schwannomas in schwannomatosis is unexplained, and the genetics of this uncommon phenomenon have not been described. The authors report on a family with clinical manifestations consistent with schwannomatosis, including 4 affected members, that was identified as having an affected member harboring a unilateral cerebellopontine angle mass with extension into the internal auditory canal. Radiologically, this mass was consistent with a vestibular schwannoma and resulted in a symptomatic change in ipsilateral hearing (word recognition 86% at 52 dB) and increased latency of the wave I\u2013V interval on auditory brainstem response testing. The patient was found to be negative for a germline mutation of NF2<\/jats:italic> and LZTR1<\/jats:italic>, and her affected mother was found to harbor neither NF2<\/jats:italic> nor SMARCB1<\/jats:italic> mutations on genetic testing. Although vestibular schwannomas have been classically considered to not occur in the setting of schwannomatosis, this patient with schwannomatosis and a vestibular schwannoma further confirms that schwannomas can occur on the vestibular nerve in this syndrome. Further, this is the first such case found to be negative for a mutation on the LZTR1<\/jats:italic> gene.<\/jats:p>","DOI":"10.3171\/2015.11.jns151766","type":"journal-article","created":{"date-parts":[[2016,2,5]],"date-time":"2016-02-05T15:01:06Z","timestamp":1454684466000},"page":"1469-1471","source":"Crossref","is-referenced-by-count":12,"title":["Unilateral vestibular schwannoma in a patient with schwannomatosis in the absence of LZTR1 mutation"],"prefix":"10.3171","volume":"125","author":[{"given":"Gautam U.","family":"Mehta","sequence":"first","affiliation":[{"name":"Surgical Neurology Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland; and"},{"name":"Department of Neurosurgery, University of Virginia Health System, Charlottesville, Virginia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michael J.","family":"Feldman","sequence":"additional","affiliation":[{"name":"Surgical Neurology Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland; and"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Herui","family":"Wang","sequence":"additional","affiliation":[{"name":"Surgical Neurology Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland; and"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dale","family":"Ding","sequence":"additional","affiliation":[{"name":"Department of Neurosurgery, University of Virginia Health System, Charlottesville, Virginia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Prashant","family":"Chittiboina","sequence":"additional","affiliation":[{"name":"Surgical Neurology Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland; and"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1754","reference":[{"key":"b1-jns151766","series-title":"Clin Genet","doi-asserted-by":"publisher","first-page":"358","DOI":"10.1111\/j.1399-0004.2008.01060.x","article-title":"Alterations in the SMARCB1 (INI1) tumor suppressor gene in familial schwannomatosis","volume":"74","author":"Boyd","year":"2008"},{"key":"b2-jns151766","series-title":"Q J Med","first-page":"603","article-title":"A clinical study of type 2 neurofibromatosis","volume":"84","author":"Evans","year":"1992"},{"key":"b3-jns151766","series-title":"Neurology","doi-asserted-by":"publisher","first-page":"1838","DOI":"10.1212\/01.WNL.0000163982.78900.AD","article-title":"Diagnostic criteria for schwannomatosis","volume":"64","author":"MacCollin","year":"2005"},{"key":"b4-jns151766","series-title":"Am J Med Genet C Semin Med Genet","doi-asserted-by":"publisher","first-page":"74","DOI":"10.1002\/ajmg.c.30022","article-title":"Genetic insights into familial tumors of the nervous system","volume":"129C","author":"Melean","year":"2004"},{"key":"b5-jns151766","series-title":"Nat Genet","doi-asserted-by":"publisher","first-page":"182","DOI":"10.1038\/ng.2855","article-title":"Germline loss-of-function mutations in LZTR1 predispose to an inherited disorder of multiple schwannomas","volume":"46","author":"Piotrowski","year":"2014"},{"key":"b6-jns151766","series-title":"Am J Med Genet A","first-page":"405","article-title":"Update from the 2011 International Schwannomatosis Workshop: From genetics to diagnostic criteria","volume":"161A","author":"Plotkin","year":"2013"},{"key":"b7-jns151766","series-title":"BMC Neurol","doi-asserted-by":"publisher","first-page":"9","DOI":"10.1186\/1471-2377-11-9","article-title":"SMARCB1\/INI1 germline mutations contribute to 10% of sporadic schwannomatosis","volume":"11","author":"Rousseau","year":"2011"},{"key":"b8-jns151766","series-title":"Neurology","doi-asserted-by":"publisher","first-page":"141","DOI":"10.1212\/WNL.0000000000001129","article-title":"Mutations in LZTR1 add to the complex heterogeneity of schwannomatosis","volume":"84","author":"Smith","year":"2015"},{"key":"b9-jns151766","series-title":"Am J Med Genet A","doi-asserted-by":"publisher","first-page":"215","DOI":"10.1002\/ajmg.a.34376","article-title":"Vestibular schwannomas occur in schwannomatosis and should not be considered an exclusion criterion for clinical diagnosis","volume":"158A","author":"Smith","year":"2012"}],"container-title":["Journal of Neurosurgery"],"original-title":[],"link":[{"URL":"https:\/\/thejns.org\/view\/journals\/j-neurosurg\/125\/6\/article-p1469.xml","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/thejns.org\/downloadpdf\/journals\/j-neurosurg\/125\/6\/article-p1469.xml","content-type":"text\/html","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/thejns.org\/downloadpdf\/journals\/j-neurosurg\/125\/6\/article-p1469.xml","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,4,29]],"date-time":"2023-04-29T23:47:50Z","timestamp":1682812070000},"score":1,"resource":{"primary":{"URL":"https:\/\/thejns.org\/view\/journals\/j-neurosurg\/125\/6\/article-p1469.xml"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016,12]]},"references-count":9,"journal-issue":{"issue":"6"},"URL":"https:\/\/doi.org\/10.3171\/2015.11.jns151766","relation":{},"ISSN":["0022-3085","1933-0693"],"issn-type":[{"value":"0022-3085","type":"print"},{"value":"1933-0693","type":"electronic"}],"subject":[],"published":{"date-parts":[[2016,12]]}}}