{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,30]],"date-time":"2025-10-30T11:29:19Z","timestamp":1761823759871},"reference-count":24,"publisher":"Journal of Neurosurgery Publishing Group (JNSPG)","issue":"1","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["SPI"],"published-print":{"date-parts":[[2016,1]]},"abstract":"<jats:p>Schwannomas are benign tumors that arise from Schwann cells in the peripheral nervous system. Patients with multiple schwannomas without signs and symptoms of neurofibromatosis Type 1 or 2 have the rare disease schwannomatosis. Tumors in these patients occur along peripheral nerves throughout the body. Mutations of the <jats:italic>SMARCB1<\/jats:italic> gene have been described as one of the predisposing genetic factors in the development of this disease. This report describes a patient who was observed for 6 years after having undergone removal of 7 schwannomas, including bilateral maxillary sinus schwannomas, a tumor that has not been previously reported. Genetic analysis revealed a novel mutation of c.93G&gt;A in exon 1 of the <jats:italic>SMARCB1<\/jats:italic> gene.<\/jats:p>","DOI":"10.3171\/2015.4.spine15192","type":"journal-article","created":{"date-parts":[[2015,10,2]],"date-time":"2015-10-02T14:03:43Z","timestamp":1443794623000},"page":"160-166","source":"Crossref","is-referenced-by-count":2,"title":["An unusual case of schwannomatosis with bilateral maxillary sinus schwannomas and a novel SMARCB1 gene mutation"],"prefix":"10.3171","volume":"24","author":[{"given":"Jamie","family":"Toms","sequence":"first","affiliation":[{"name":"Departments of Neurosurgery,"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jason","family":"Harrison","sequence":"additional","affiliation":[{"name":"Departments of Neurosurgery,"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hope","family":"Richard","sequence":"additional","affiliation":[{"name":"Pathology, and"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Adrienne","family":"Childers","sequence":"additional","affiliation":[{"name":"Otolaryngology, Virginia Commonwealth University, Medical College of Virginia, Richmond, Virginia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Evan R.","family":"Reiter","sequence":"additional","affiliation":[{"name":"Otolaryngology, Virginia Commonwealth University, Medical College of Virginia, Richmond, Virginia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Robert S.","family":"Graham","sequence":"additional","affiliation":[{"name":"Departments of Neurosurgery,"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1754","reference":[{"key":"b1-spine15192","series-title":"Acta Neuropathol","doi-asserted-by":"publisher","first-page":"321","DOI":"10.1007\/s00401-011-0928-6","article-title":"Molecular mechanisms promoting the pathogenesis of Schwann cell neoplasms","volume":"123","author":"Carroll","year":"2012"},{"key":"b2-spine15192","series-title":"Neurol India","doi-asserted-by":"publisher","first-page":"96","DOI":"10.4103\/0028-3886.128353","article-title":"Schwannoma of supraorbital nerve presenting as a subfrontal tumor","volume":"62","author":"Chacko","year":"2014"},{"key":"b3-spine15192","series-title":"Am J Surg Pathol","doi-asserted-by":"publisher","first-page":"1892","DOI":"10.1097\/PAS.0b013e31826cbe7a","article-title":"Conventional chondrosarcoma in a survivor of rhabdoid tumor: enlarging the spectrum of tumors associated with SMARCB1 germline mutations","volume":"36","author":"Forest","year":"2012"},{"key":"b4-spine15192","series-title":"J Neurosurg","doi-asserted-by":"publisher","first-page":"756","DOI":"10.3171\/2010.8.JNS091900","article-title":"Schwannomatosis, sporadic schwannomatosis, and familial schwannomatosis: a surgical series with long-term follow-up. Clinical article","volume":"114","author":"Gonzalvo","year":"2011"},{"key":"b5-spine15192","series-title":"Surg Neurol","doi-asserted-by":"publisher","first-page":"353","DOI":"10.1016\/j.surneu.2003.11.020","article-title":"Management of patients with schwannomatosis: report of six cases and review of the literature","volume":"62","author":"Huang","year":"2004"},{"key":"b6-spine15192","series-title":"Am J Surg Pathol","doi-asserted-by":"publisher","first-page":"421","DOI":"10.1097\/PAS.0000000000000110","article-title":"SMARCB1 involvement in the development of leiomyoma in a patient with schwannomatosis","volume":"38","author":"Hulsebos","year":"2014"},{"key":"b7-spine15192","series-title":"Acta Neuropathol","doi-asserted-by":"publisher","first-page":"439","DOI":"10.1007\/s00401-014-1281-3","article-title":"Premature termination of SMARCB1 translation may be followed by reinitiation in schwannomatosis-associated schwannomas, but results in absence of SMARCB1 expression in rhabdoid tumors","volume":"128","author":"Hulsebos","year":"2014"},{"key":"b8-spine15192","series-title":"Acta Neuropathol","doi-asserted-by":"publisher","first-page":"449","DOI":"10.1007\/s00401-014-1311-1","article-title":"Whole exome sequencing reveals that the majority of schwannomatosis cases remain unexplained after excluding SMARCB1 and LZTR1 germline variants","volume":"128","author":"Hutter","year":"2014"},{"key":"b9-spine15192","series-title":"Open Neuroimaging J","doi-asserted-by":"publisher","first-page":"9","DOI":"10.2174\/1874440001105010009","article-title":"Polyradiculopathies from schwannomatosis","volume":"5","author":"Jia","year":"2011"},{"key":"b10-spine15192","series-title":"AJR Am J Roentgenol","doi-asserted-by":"publisher","first-page":"W646","DOI":"10.2214\/AJR.12.8577","article-title":"Schwannomatosis: the overlooked neurofibromatosis?","volume":"200","author":"Koontz","year":"2013"},{"key":"b11-spine15192","series-title":"Handb Clin Neurol","doi-asserted-by":"publisher","first-page":"333","DOI":"10.1016\/B978-0-444-52891-9.00039-7","article-title":"Neurofibromatosis","volume":"111","author":"Korf","year":"2013"},{"key":"b12-spine15192","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":"b13-spine15192","series-title":"Ear Nose Throat J","doi-asserted-by":"publisher","first-page":"634","DOI":"10.1177\/014556130308200822","article-title":"Solitary malignant schwannoma of the nasal cavity and paranasal sinuses: report of two rare cases","volume":"82","author":"Mannan","year":"2003"},{"key":"b14-spine15192","series-title":"Oncologist","doi-asserted-by":"publisher","first-page":"1317","DOI":"10.1634\/theoncologist.2012-0162","article-title":"Clinical features of schwannomatosis: a retrospective analysis of 87 patients","volume":"17","author":"Merker","year":"2012"},{"key":"b15-spine15192","series-title":"Eur J Hum Genet","doi-asserted-by":"publisher","first-page":"963","DOI":"10.1038\/ejhg.2014.220","article-title":"Expanding the mutational spectrum of LZTR1 in schwannomatosis","volume":"23","author":"Paganini","year":"2015"},{"key":"b16-spine15192","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":"b17-spine15192","series-title":"Am J Surg Pathol","doi-asserted-by":"publisher","first-page":"964","DOI":"10.1097\/PAS.0b013e31825798f1","article-title":"SMARCB1 deficiency in tumors from the peripheral nervous system: a link between schwannomas and rhabdoid tumors?","volume":"36","author":"Rizzo","year":"2012"},{"key":"b18-spine15192","series-title":"Acta Neuropathol","doi-asserted-by":"publisher","first-page":"349","DOI":"10.1007\/s00401-011-0935-7","article-title":"Genetic predisposition to peripheral nerve neoplasia: diagnostic criteria and pathogenesis of neurofibromatoses, Carney complex, and related syndromes","volume":"123","author":"Rodriguez","year":"2012"},{"key":"b19-spine15192","series-title":"Hum Mutat","doi-asserted-by":"publisher","first-page":"227","DOI":"10.1002\/humu.20679","article-title":"Evidence of a four-hit mechanism involving SMARCB1 and NF2 in schwannomatosis-associated schwannomas","volume":"29","author":"Sestini","year":"2008"},{"key":"b20-spine15192","series-title":"J Laryngol Otol","doi-asserted-by":"publisher","first-page":"598","DOI":"10.1017\/S0022215107000527","article-title":"Benign schwannoma in paranasal sinuses: a clinicopathological study of five cases, emphasising diagnostic difficulties","volume":"122","author":"Sheikh","year":"2008"},{"key":"b21-spine15192","series-title":"Neurogenetics","doi-asserted-by":"publisher","first-page":"141","DOI":"10.1007\/s10048-012-0319-8","article-title":"Frequency of SMARCB1 mutations in familial and sporadic schwannomatosis","volume":"13","author":"Smith","year":"2012"},{"key":"b22-spine15192","series-title":"Cancer Genet","doi-asserted-by":"publisher","first-page":"373","DOI":"10.1016\/j.cancergen.2014.04.001","article-title":"SMARCB1 mutations in schwannomatosis and genotype correlations with rhabdoid tumors","volume":"207","author":"Smith","year":"2014"},{"key":"b23-spine15192","series-title":"Clin Exp Dermatol","doi-asserted-by":"publisher","first-page":"555","DOI":"10.1111\/j.1365-2230.2011.04018.x","article-title":"Schwannomatosis presenting with large subcutaneous and retroperitoneal tumours","volume":"36","author":"Yoshizawa","year":"2011"},{"key":"b24-spine15192","series-title":"Genet Med","doi-asserted-by":"publisher","first-page":"787","DOI":"10.1038\/gim.2014.39","article-title":"A germline missense mutation in COQ6 is associated with susceptibility to familial schwannomatosis","volume":"16","author":"Zhang","year":"2014"}],"container-title":["Journal of Neurosurgery: Spine"],"original-title":[],"link":[{"URL":"https:\/\/thejns.org\/view\/journals\/j-neurosurg-spine\/24\/1\/article-p160.xml","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/thejns.org\/downloadpdf\/journals\/j-neurosurg-spine\/24\/1\/article-p160.xml","content-type":"text\/html","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/thejns.org\/downloadpdf\/journals\/j-neurosurg-spine\/24\/1\/article-p160.xml","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,4,15]],"date-time":"2023-04-15T21:55:25Z","timestamp":1681595725000},"score":1,"resource":{"primary":{"URL":"https:\/\/thejns.org\/view\/journals\/j-neurosurg-spine\/24\/1\/article-p160.xml"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016,1]]},"references-count":24,"journal-issue":{"issue":"1"},"URL":"https:\/\/doi.org\/10.3171\/2015.4.spine15192","relation":{},"ISSN":["1547-5654"],"issn-type":[{"value":"1547-5654","type":"print"}],"subject":[],"published":{"date-parts":[[2016,1]]}}}