{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,30]],"date-time":"2026-10-30T12:02:38Z","timestamp":1793361758214,"version":"4.5.0"},"reference-count":34,"publisher":"Oxford University Press (OUP)","issue":"7","license":[{"start":{"date-parts":[[2020,12,18]],"date-time":"2020-12-18T00:00:00Z","timestamp":1608249600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/journals\/pages\/open_access\/funder_policies\/chorus\/standard_publication_model"}],"funder":[{"DOI":"10.13039\/501100000272","name":"National Institute for Health Research","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100000272","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100014461","name":"Biomedical Research Centre","doi-asserted-by":"publisher","award":["IS-BRC-1215-20007"],"award-info":[{"award-number":["IS-BRC-1215-20007"]}],"id":[{"id":"10.13039\/100014461","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2021,7,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>Limited data exist on the disease course of neurofibromatosis type 2 (NF2) to guide clinical trial design.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>A prospective database of patients meeting NF2 diagnostic criteria, reviewed between 1990 and 2020, was evaluated. Follow-up to first vestibular schwannoma (VS) intervention and death was assessed by univariate analysis and stratified by age at onset, era referred, and inheritance type. Interventions for NF2-related tumors were assessed. Cox regression was performed to determine the relationship between individual factors from time of diagnosis to NF2-related death.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>Three hundred and fifty-three patients were evaluated. During 4643.1 follow-up years from diagnosis to censoring, 60 patients (17.0%) died. The annual mean number of patients undergoing VS surgery or radiotherapy declined, from 4.66 and 1.65, respectively, per 100 NF2 patients in 1990-1999 to 2.11 and 1.01 in 2010-2020, as the number receiving bevacizumab increased (2.51 per 100 NF2 patients in 2010-2020). Five patients stopped bevacizumab to remove growing meningioma or spinal schwannoma. 153\/353 (43.3%) had at least one neurosurgical intervention\/radiation treatment within 5 years of diagnosis. Patients asymptomatic at diagnosis had longer time to intervention and better survival compared to those presenting with symptoms. Those symptomatically presenting &amp;lt;16 and &amp;gt;40 years had poorer overall survival than those presenting at 26-39 years (P = .03 and P = .02, respectively) but those presenting between 16 and 39 had shorter time to VS intervention. Individuals with de novo constitutional variants had worse survival than those with de novo mosaic or inherited disease (P = .004).<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>Understanding disease course improves prognostication, allowing for better-informed decisions about care.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1093\/neuonc\/noaa284","type":"journal-article","created":{"date-parts":[[2020,12,15]],"date-time":"2020-12-15T23:17:26Z","timestamp":1608074246000},"page":"1113-1124","source":"Crossref","is-referenced-by-count":57,"title":["Disease course of neurofibromatosis type 2: a 30-year follow-up study of 353 patients seen at a single institution"],"prefix":"10.1093","volume":"23","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-8035-4471","authenticated-orcid":false,"given":"Claire","family":"Forde","sequence":"first","affiliation":[{"name":"Manchester Centre for Genomic Medicine, Manchester Academic Health Science Centre, Division of Evolution and Genomic Medicine, University of Manchester, St. Mary\u2019s Hospital, Manchester Universities NHS Foundation Trust, Manchester, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrew T","family":"King","sequence":"additional","affiliation":[{"name":"Departments of Neurosurgery"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Scott A","family":"Rutherford","sequence":"additional","affiliation":[{"name":"Departments of Neurosurgery"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Charlotte","family":"Hammerbeck-Ward","sequence":"additional","affiliation":[{"name":"Departments of Neurosurgery"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Simon K","family":"Lloyd","sequence":"additional","affiliation":[{"name":"Otolaryngology"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Simon R","family":"Freeman","sequence":"additional","affiliation":[{"name":"Otolaryngology"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Omar N","family":"Pathmanaban","sequence":"additional","affiliation":[{"name":"Departments of Neurosurgery"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emma","family":"Stapleton","sequence":"additional","affiliation":[{"name":"Otolaryngology"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Owen M","family":"Thomas","sequence":"additional","affiliation":[{"name":"Neuroradiology"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roger D","family":"Laitt","sequence":"additional","affiliation":[{"name":"Neuroradiology"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stavros","family":"Stivaros","sequence":"additional","affiliation":[{"name":"Division of Informatics, Imaging and Data Sciences, School of Health Sciences, Faculty of Biology, Medicine and Health, The University of Manchester, Manchester Academic Health Science Centre, Manchester, UK"},{"name":"Academic Unit of Paediatric Radiology, Royal Manchester Children\u2019s Hospital, Manchester Universities NHS Foundation Trust, Manchester Academic Health Science Centre, Manchester, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John-Paul","family":"Kilday","sequence":"additional","affiliation":[{"name":"Children\u2019s Brain Tumour Research Network (CBTRN), Royal Manchester Children\u2019s Hospital, Manchester, UK"},{"name":"The Centre for Paediatric, Teenage and Young Adult Cancer, Institute of Cancer Sciences, The University of Manchester, Manchester, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Grace","family":"Vassallo","sequence":"additional","affiliation":[{"name":"Manchester Centre for Genomic Medicine, Manchester Academic Health Science Centre, Division of Evolution and Genomic Medicine, University of Manchester, St. Mary\u2019s Hospital, Manchester Universities NHS Foundation Trust, Manchester, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Catherine","family":"McBain","sequence":"additional","affiliation":[{"name":"Departments of Paediatric and Clinical Oncology, The Christie NHS Foundation Trust, Manchester, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Simon","family":"Kerrigan","sequence":"additional","affiliation":[{"name":"Neurology"},{"name":"Manchester Academic Health Science Centre, Salford Royal NHS Foundation Trust, Manchester, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Miriam J","family":"Smith","sequence":"additional","affiliation":[{"name":"Manchester Centre for Genomic Medicine, Manchester Academic Health Science Centre, Division of Evolution and Genomic Medicine, University of Manchester, St. Mary\u2019s Hospital, Manchester Universities NHS Foundation Trust, Manchester, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Martin G","family":"McCabe","sequence":"additional","affiliation":[{"name":"Departments of Paediatric and Clinical Oncology, The Christie NHS Foundation Trust, Manchester, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elaine F","family":"Harkness","sequence":"additional","affiliation":[{"name":"Prevent Breast Cancer Centre, Wythenshawe Hospital, Manchester Universities NHS Foundation Trust, Manchester, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D Gareth","family":"Evans","sequence":"additional","affiliation":[{"name":"Manchester Centre for Genomic Medicine, Manchester Academic Health Science Centre, Division of Evolution and Genomic Medicine, University of Manchester, St. Mary\u2019s Hospital, Manchester Universities NHS Foundation Trust, Manchester, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2020,12,18]]},"reference":[{"issue":"304","key":"2021070118140111400_CIT0001","first-page":"603","article-title":"A clinical study of type 2 neurofibromatosis","volume":"84","author":"Evans","year":"1992","journal-title":"Q J Med."},{"issue":"4","key":"2021070118140111400_CIT0002","doi-asserted-by":"crossref","first-page":"974","DOI":"10.1002\/lary.27586","article-title":"Progression of hearing loss in neurofibromatosis type 2 according to genetic 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