{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,13]],"date-time":"2025-12-13T22:59:40Z","timestamp":1765666780570},"reference-count":15,"publisher":"Journal of Neurosurgery Publishing Group (JNSPG)","issue":"2","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["JNS"],"published-print":{"date-parts":[[2006,2]]},"abstract":"<jats:sec>\n<jats:title>Object<\/jats:title>\n<jats:p>Although the manifestations of neurofibromatosis Type 2 (NF2) vary, the hallmark is bilateral vestibular schwannomas (VSs). The authors studied the clinical course and genetic basis of unilateral VSs associated with other NF2-related tumors.<\/jats:p><\/jats:sec>\n<jats:sec>\n<jats:title>Methods<\/jats:title>\n<jats:p>Forty-four adults presenting with unilateral VSs and other NF2-related tumors were identified. A comprehensive review of patient records and cranial imaging was conducted. Molecular analysis of the <jats:italic>NF2<\/jats:italic> locus was performed in available tumors and paired blood specimens. Patient age at symptomatic onset ranged from 11 to 63 years (mean 32 years). Twenty-two patients (50%) presented with eighth cranial nerve dysfunction. Twenty-six presented with multiple lesions. Thirty-eight harbored other intracranial tumors and 27 had spinal tumors, with most lesions situated ipsilateral to the VS. No patient had a relative with NF2, although two of 63 offspring had isolated NF2-related findings. A contralateral VS developed in four patients 3 to 46 years after the symptomatic onset of a unilateral VS, and two of these patients experienced rapid progression to total deafness. Results of a Kaplan\u2013Meier analysis identified actuarial chances of developing contralateral VS: 2.9% (3\u201317 years after the VS symptomatic onset of unilateral VS), 11% (18\u201324 years), and 28.8% (25\u201340 years). Mosaicism for the <jats:italic>NF2<\/jats:italic> gene mutation was proven in eight patients.<\/jats:p><\/jats:sec>\n<jats:sec>\n<jats:title>Conclusions<\/jats:title>\n<jats:p>The authors describe the clinical features of this unique phenotype\u2014unilateral VS with other NF2-related tumors. Persons with this phenotype should undergo evaluation and monitoring similar to that conducted in patients with NF2, and the possibility of aggressive contralateral VS formation should be considered in their treatment. Molecular genetic analysis is best performed using resected tumor specimens and will enable future studies to determine the genetic risks of individuals with mosaicism.<\/jats:p><\/jats:sec>","DOI":"10.3171\/jns.2006.104.2.201","type":"journal-article","created":{"date-parts":[[2008,1,24]],"date-time":"2008-01-24T12:31:37Z","timestamp":1201177897000},"page":"201-207","source":"Crossref","is-referenced-by-count":16,"title":["Unilateral vestibular schwannoma with other neurofibromatosis Type 2\u2013related tumors: clinical and molecular study of a unique phenotype"],"prefix":"10.3171","volume":"104","author":[{"given":"Manish","family":"Aghi","sequence":"first","affiliation":[{"name":"Neurosurgical Service and Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts; and Department of Maxillofacial Surgery, University Hospital Eppendorf, Hamburg, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lan","family":"Kluwe","sequence":"additional","affiliation":[{"name":"Neurosurgical Service and Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts; and Department of Maxillofacial Surgery, University Hospital Eppendorf, Hamburg, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Micah T.","family":"Webster","sequence":"additional","affiliation":[{"name":"Neurosurgical Service and Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts; and Department of Maxillofacial Surgery, University Hospital Eppendorf, Hamburg, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lee B.","family":"Jacoby","sequence":"additional","affiliation":[{"name":"Neurosurgical Service and Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts; and Department of Maxillofacial Surgery, University Hospital Eppendorf, Hamburg, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fred G.","family":"Barker","sequence":"additional","affiliation":[{"name":"Neurosurgical Service and Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts; and Department of Maxillofacial Surgery, University Hospital Eppendorf, Hamburg, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Robert G.","family":"Ojemann","sequence":"additional","affiliation":[{"name":"Neurosurgical Service and Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts; and Department of Maxillofacial Surgery, University Hospital Eppendorf, Hamburg, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Victor-Felix","family":"Mautner","sequence":"additional","affiliation":[{"name":"Neurosurgical Service and Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts; and Department of Maxillofacial Surgery, University Hospital Eppendorf, Hamburg, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mia","family":"MacCollin","sequence":"additional","affiliation":[{"name":"Neurosurgical Service and Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts; and Department of Maxillofacial Surgery, University Hospital Eppendorf, Hamburg, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1754","reference":[{"key":"b1-1040201","series-title":"J Child Neurol","doi-asserted-by":"publisher","first-page":"699","DOI":"10.1177\/08830738040190091101","article-title":"Molecular genetic basis of tuberous sclerosis complex: from bench to bedside","volume":"19","year":"2004"},{"key":"b2-1040201","series-title":"Neurosurgery","first-page":"274","article-title":"Early proactive management of vestibular schwannomas in neurofibromatosis type 2","volume":"49","year":"2001"},{"key":"b3-1040201","series-title":"J Laryngol Otol","doi-asserted-by":"publisher","first-page":"830","DOI":"10.1017\/S0022215100131445","article-title":"Variation of expression of the gene for type 2 neurofibromatosis: absence of a gender effect on vestibular schwannomas, but confirmation of a preponderance of meningiomas in females","volume":"109","year":"1995"},{"key":"b4-1040201","series-title":"J Neurol Neurosurg Psychiatry","doi-asserted-by":"publisher","first-page":"764","DOI":"10.1136\/jnnp.66.6.764","article-title":"Probability of bilateral disease in people presenting with a unilateral vestibular schwannoma","volume":"66","year":"1999"},{"key":"b5-1040201","series-title":"J Med Genet","doi-asserted-by":"publisher","first-page":"897","DOI":"10.1136\/jmg.37.12.897","article-title":"Neurofibromatosis type 2","volume":"37","year":"2000"},{"key":"b6-1040201","series-title":"Am J Hum Genet","doi-asserted-by":"publisher","first-page":"1293","DOI":"10.1086\/301633","article-title":"Molecular analysis of the NF2 tumor-suppressor gene in schwannomatosis","volume":"61","year":"1997"},{"key":"b7-1040201","series-title":"Genes Chromosomes Cancer","doi-asserted-by":"publisher","first-page":"45","DOI":"10.1002\/(SICI)1098-2264(199609)17:1<45::AID-GCC7>3.0.CO;2-2","article-title":"Frequency and distribution of NF2 gene mutations in schwannomas","volume":"17","year":"1996"},{"key":"b8-1040201","series-title":"J Med Genet","doi-asserted-by":"publisher","first-page":"109","DOI":"10.1136\/jmg.40.2.109","article-title":"Molecular study of frequency of mosaicism in neurofibromatosis 2 patients with bilateral vestibular schwannomas","volume":"40","year":"2003"},{"key":"b9-1040201","series-title":"Hum Mol Genet","doi-asserted-by":"publisher","first-page":"2051","DOI":"10.1093\/hmg\/7.13.2051","article-title":"Mosaicism in sporadic neurofibromatosis 2 patients","volume":"7","year":"1998"},{"key":"b10-1040201","series-title":"Otolaryngol Clin North Am","doi-asserted-by":"publisher","first-page":"499","DOI":"10.1016\/S0030-6665(20)30962-2","article-title":"Epidemiology, pathogenesis, and genetics of acoustic tumors","volume":"25","year":"1992"},{"key":"b11-1040201","series-title":"Neurosurgery","doi-asserted-by":"publisher","first-page":"880","DOI":"10.1097\/00006123-199605000-00004","article-title":"The neuroimaging and clinical spectrum of neurofibromatosis 2","volume":"38","year":"1996"},{"key":"b12-1040201","series-title":"Trans Am Ophthalmol Soc","first-page":"245","article-title":"Retinal changes associated with neurofibromatosis 2","volume":"93","year":"1995"},{"key":"b13-1040201","series-title":"Am J Med Genet","doi-asserted-by":"publisher","first-page":"450","DOI":"10.1002\/ajmg.1320520411","article-title":"Neurofibromatosis 2 (NF2): clinical characteristics of 63 affected individuals and clinical evidence for heterogeneity","volume":"52","year":"1994"},{"key":"b14-1040201","series-title":"J Laryngol Otol","doi-asserted-by":"publisher","first-page":"622","DOI":"10.1258\/0022215041917989","article-title":"Increasing annual incidence of vestibular schwannoma and age at diagnosis","volume":"118","year":"2004"},{"key":"b15-1040201","series-title":"J Child Neurol","doi-asserted-by":"publisher","first-page":"562","DOI":"10.1177\/088307380201700804","article-title":"Genetics of neurofibromatosis 1 and the NF1 gene","volume":"17","year":"2002"}],"container-title":["Journal of Neurosurgery"],"original-title":[],"link":[{"URL":"https:\/\/thejns.org\/view\/journals\/j-neurosurg\/104\/2\/article-p201.xml","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/thejns.org\/downloadpdf\/journals\/j-neurosurg\/104\/2\/article-p201.xml","content-type":"text\/html","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/thejns.org\/downloadpdf\/journals\/j-neurosurg\/104\/2\/article-p201.xml","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,3,26]],"date-time":"2023-03-26T18:15:17Z","timestamp":1679854517000},"score":1,"resource":{"primary":{"URL":"https:\/\/thejns.org\/view\/journals\/j-neurosurg\/104\/2\/article-p201.xml"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2006,2]]},"references-count":15,"journal-issue":{"issue":"2"},"URL":"https:\/\/doi.org\/10.3171\/jns.2006.104.2.201","relation":{},"ISSN":["0022-3085"],"issn-type":[{"value":"0022-3085","type":"print"}],"subject":[],"published":{"date-parts":[[2006,2]]}}}