{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,23]],"date-time":"2026-09-23T19:48:34Z","timestamp":1790192914895,"version":"4.1.0"},"reference-count":17,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2022,2,18]],"date-time":"2022-02-18T00:00:00Z","timestamp":1645142400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100004325","name":"AstraZeneca","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100004325","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2022,6]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>We report on the location, symptoms, and management of plexiform neurofibroma (PN) in children with Neurofibromatosis Type 1 (NF1) attending the 2 National Complex Neurofibromatosis 1 Services at Guy's and St. Thomas' NHS Foundation Trust, London and St Mary's Hospital, Manchester. Retrospective data collection was performed from patient chart reviews from April 2018 to April 2019. There were 127 NF1 patients with PN, age range 0.8\u201317.0, mean age was 9.9\u00a0years (SD\u00a0\u00b1\u00a04.2\u00a0years). The main location of the PN was craniofacial in 35%, and limb in 19%. Disfigurement was present in 57%, pain in 28%, impairment of function in 23%, and threat to function in 9% of children. Fifty\u2010four percent of patients were managed conservatively, 28% surgically, and 19% are either taking or due to start a mitogen\u2010activated protein kinase kinase (MEK) inhibitor (selumetinib or trametinib), either through a clinical trial or compassionate usage scheme. This national study provides a comprehensive overview of the management of children with PN in an era where new therapies (MEK inhibitors) are becoming more widely available. We anticipate that there will be a shift to more patients receiving MEK inhibitor therapy and combination therapy (surgery and MEK inhibitor) in the future.<\/jats:p>","DOI":"10.1002\/ajmg.a.62691","type":"journal-article","created":{"date-parts":[[2022,2,18]],"date-time":"2022-02-18T03:35:02Z","timestamp":1645155302000},"page":"1723-1727","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":20,"title":["Location, symptoms, and management of plexiform neurofibromas in 127 children with neurofibromatosis 1, attending the National Complex Neurofibromatosis 1 service, 2018\u20132019"],"prefix":"10.1002","volume":"188","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-2047-1945","authenticated-orcid":false,"given":"Yoshua Colyn","family":"Collins\u2010Sawaragi","sequence":"first","affiliation":[{"name":"National Complex Neurofibromatosis 1 Service Guy's and St. Thomas' NHS Foundation Trust and Children's Neuroscience Centre, Evelina London Children's Hospital  London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rosalie","family":"Ferner","sequence":"additional","affiliation":[{"name":"National Complex Neurofibromatosis 1 Service, Department of Neurology National Neurofibromatosis Service, Guy's and St Thomas' NHS Foundation Trust  London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Grace","family":"Vassallo","sequence":"additional","affiliation":[{"name":"National Complex Neurofibromatosis 1 Service St Mary's Genomic Centre for Medicine, Manchester University NHS Foundation Trust  Manchester UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Germana","family":"De Agr\u00f2","sequence":"additional","affiliation":[{"name":"National Complex Neurofibromatosis 1 Service St Mary's Genomic Centre for Medicine, Manchester University NHS Foundation Trust  Manchester UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Simon","family":"Eccles","sequence":"additional","affiliation":[{"name":"National Complex Neurofibromatosis 1 Service Guy's and St. Thomas' NHS Foundation Trust and Children's Neuroscience Centre, Evelina London Children's Hospital  London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jill","family":"Cadwgan","sequence":"additional","affiliation":[{"name":"National Complex Neurofibromatosis 1 Service Guy's and St. Thomas' NHS Foundation Trust and Children's Neuroscience Centre, Evelina London Children's Hospital  London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Darren","family":"Hargrave","sequence":"additional","affiliation":[{"name":"National Complex Neurofibromatosis 1 Service Guy's and St. Thomas' NHS Foundation Trust and Children's Neuroscience Centre, Evelina London Children's Hospital  London UK"},{"name":"Developmental Biology and Cancer University College London Great Ormond Street Institute of Child Health  London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eileen","family":"Hupton","sequence":"additional","affiliation":[{"name":"National Complex Neurofibromatosis 1 Service St Mary's Genomic Centre for Medicine, Manchester University NHS Foundation Trust  Manchester UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Judith","family":"Eelloo","sequence":"additional","affiliation":[{"name":"National Complex Neurofibromatosis 1 Service St Mary's Genomic Centre for Medicine, Manchester University NHS Foundation Trust  Manchester UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lauren","family":"Lunt","sequence":"additional","affiliation":[{"name":"National Complex Neurofibromatosis 1 Service St Mary's Genomic Centre for Medicine, Manchester University NHS Foundation Trust  Manchester UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vivian","family":"Tang","sequence":"additional","affiliation":[{"name":"National Complex Neurofibromatosis 1 Service St Mary's Genomic Centre for Medicine, Manchester University NHS Foundation Trust  Manchester UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emma","family":"Burkitt Wright","sequence":"additional","affiliation":[{"name":"National Complex Neurofibromatosis 1 Service St Mary's Genomic Centre for Medicine, Manchester University NHS Foundation Trust  Manchester UK"},{"name":"Division of Evolution and Genomic Sciences University of Manchester  Manchester UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Karine","family":"Lascelles","sequence":"additional","affiliation":[{"name":"National Complex Neurofibromatosis 1 Service Guy's and St. Thomas' NHS Foundation Trust and Children's Neuroscience Centre, Evelina London Children's Hospital  London UK"},{"name":"National Complex Neurofibromatosis 1 Service, Department of Neurology National Neurofibromatosis Service, Guy's and St Thomas' NHS Foundation Trust  London 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(2019).Draft scope for the proposed appraisal of selumetinib for treating inoperable plexiform neurofibromas associated with type 1 neurofibromatosis in children aged 3 years and over.https:\/\/www.nice.org.uk\/guidance\/gid-ta10535\/documents\/draft-scope-pre-referral"},{"key":"e_1_2_10_16_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2013.30"},{"key":"e_1_2_10_17_1","doi-asserted-by":"publisher","DOI":"10.1200\/JCO.2015.65.3576"},{"key":"e_1_2_10_18_1","doi-asserted-by":"publisher","DOI":"10.1055\/s-0039-1691830"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.62691","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/ajmg.a.62691","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.62691","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,25]],"date-time":"2023-08-25T19:43:24Z","timestamp":1692992604000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.62691"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,2,18]]},"references-count":17,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2022,6]]}},"alternative-id":["10.1002\/ajmg.a.62691"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.62691","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,2,18]]},"assertion":[{"value":"2021-06-18","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2021-12-27","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2022-02-18","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}