{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,17]],"date-time":"2026-03-17T07:12:06Z","timestamp":1773731526202,"version":"3.50.1"},"reference-count":31,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2015,4,21]],"date-time":"2015-04-21T00:00:00Z","timestamp":1429574400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2015,7]]},"abstract":"<jats:sec><jats:label\/><jats:p>Internal plexiform neurofibromas are a major cause of adverse outcomes in patients with neurofibromatosis 1 (NF1). We investigated the relationship of the numbers of subcutaneous neurofibromas of the scalp or body to internal plexiform tumor volume in 120 NF1 patients who had undergone whole body magnetic resonance imaging (MRI). We identified internal plexiform neurofibromas in 55% of patients, subcutaneous neurofibromas of the body in 75%, and subcutaneous neurofibromas of the scalp in 45%. The number of subcutaneous neurofibromas of the body and scalp were associated with each other (Spearman's Rho\u2009=\u20090.36; <jats:italic>P\u2009<\/jats:italic>&lt;\u20090.001). The presence of internal tumors was associated with the presence (odds ratio [OR]\u2009=\u20094.38, 95% confidence interval [CI] 2.04\u20139.86, <jats:italic>P\u2009<\/jats:italic>&lt;\u20090.001) and number (OR\u2009=\u20091.06 per neurofibroma, 95% CI 1.02\u20131.13, <jats:italic>P\u2009<\/jats:italic>&lt;\u20090.001) of subcutaneous neurofibromas of the scalp. The total internal tumor volume was associated with the number of subcutaneous neurofibromas of the body (OR\u2009=\u20091.00086 per neurofibroma, 1.000089\u20131.0016, <jats:italic>P\u2009<\/jats:italic>=\u20090.029) and of the scalp (OR\u2009=\u20091.056 per neurofibroma, 1.029\u20131.083, <jats:italic>P\u2009<\/jats:italic>&lt;\u20090.0001). Numbers of subcutaneous neurofibromas of the scalp and body are associated with internal plexiform tumor burden in NF1. Recognition of these associations may improve clinical management by helping to identify patients who will benefit most from whole body MRI and more intense clinical surveillance. \u00a9 2015 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.37068","type":"journal-article","created":{"date-parts":[[2015,4,22]],"date-time":"2015-04-22T03:51:09Z","timestamp":1429674669000},"page":"1518-1524","source":"Crossref","is-referenced-by-count":12,"title":["Quantitative associations of scalp and body subcutaneous neurofibromas with internal plexiform tumors in neurofibromatosis 1"],"prefix":"10.1002","volume":"167","author":[{"given":"Kimberly","family":"Jett","sequence":"first","affiliation":[{"name":"Department of Medical Genetics University of British Columbia Vancouver Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rosa","family":"Nguyen","sequence":"additional","affiliation":[{"name":"Department of Neurology University Medical Center Hamburg\u2010Eppendorf Hamburg Germany"},{"name":"Department of Pediatrics University of Maryland Medical Center Baltimore Maryland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Darian","family":"Arman","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics University of British Columbia Vancouver Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Patricia","family":"Birch","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics University of British Columbia Vancouver Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Harleen","family":"Chohan","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics University of British Columbia Vancouver Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Said","family":"Farschtschi","sequence":"additional","affiliation":[{"name":"Department of Neurology University Medical Center Hamburg\u2010Eppendorf Hamburg Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Carsten","family":"Fuensterer","sequence":"additional","affiliation":[{"name":"MRI\u2010Institute Altona Hamburg Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lan","family":"Kluwe","sequence":"additional","affiliation":[{"name":"Department of Neurology University Medical Center Hamburg\u2010Eppendorf Hamburg Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jan M.","family":"Friedman","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics University of British Columbia Vancouver Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Victor F.","family":"Mautner","sequence":"additional","affiliation":[{"name":"Department of Neurology University Medical Center Hamburg\u2010Eppendorf Hamburg Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2015,4,21]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1093\/ije\/26.6.1323"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1148\/radiol.2503080700"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1212\/01.wnl.0000250332.89420.e6"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-6-18"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2011.113"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19970516)70:2<138::AID-AJMG7>3.0.CO;2-U"},{"key":"e_1_2_5_8_1","first-page":"29","volume-title":"Neurofibromatosis: Phenotype, natural history, and pathogenesis","author":"Friedman JM","year":"1999"},{"key":"e_1_2_5_9_1","first-page":"949","article-title":"Growth type of plexiform neurofibromas in NF1 determined on magnetic resonance images","volume":"23","author":"Friedrich RE","year":"2003","journal-title":"Anticancer Res"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-005-1265-4"},{"key":"e_1_2_5_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30394"},{"key":"e_1_2_5_12_1","doi-asserted-by":"publisher","DOI":"10.1001\/archderm.139.2.187"},{"key":"e_1_2_5_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/gcc.21931"},{"key":"e_1_2_5_14_1","doi-asserted-by":"publisher","DOI":"10.1177\/088307380201700806"},{"key":"e_1_2_5_15_1","doi-asserted-by":"publisher","DOI":"10.1215\/15228517-2008-011"},{"key":"e_1_2_5_16_1","first-page":"1819","article-title":"Clinical relevance of positron emission tomography and magnetic resonance imaging in the progression of internal plexiform neurofibroma in NF1","volume":"27","author":"Mautner VF","year":"2007","journal-title":"Anticancer Res"},{"key":"e_1_2_5_17_1","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.1988.00520290115023"},{"key":"e_1_2_5_18_1","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-7-75"},{"key":"e_1_2_5_19_1","doi-asserted-by":"publisher","DOI":"10.1007\/s11060-013-1293-1"},{"key":"e_1_2_5_20_1","doi-asserted-by":"crossref","DOI":"10.1016\/j.jpeds.2011.04.008","article-title":"Plexiform neurofibromas in children with neurofibromatosis type 1: Frequency and associated clinical deficits","volume":"159","author":"Nguyen R","year":"2011","journal-title":"J Pediatr"},{"key":"e_1_2_5_21_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0035711"},{"key":"e_1_2_5_22_1","doi-asserted-by":"publisher","DOI":"10.1086\/320121"},{"key":"e_1_2_5_23_1","doi-asserted-by":"publisher","DOI":"10.3171\/foc.2007.22.6.4"},{"key":"e_1_2_5_24_1","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-6-51"},{"key":"e_1_2_5_25_1","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-7-62"},{"key":"e_1_2_5_26_1","first-page":"2173","article-title":"Bastuji\u2010Garin S; Members of NF France Network. 2010. NF\u20101Score: A prediction score for internal neurofibromas in neurofibromatosis\u20101","volume":"130","author":"Sbidian E","journal-title":"J Invest Dermatol"},{"key":"e_1_2_5_27_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.clinbiochem.2012.12.007"},{"key":"e_1_2_5_28_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.compmedimag.2004.03.002"},{"key":"e_1_2_5_29_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2008.061051"},{"key":"e_1_2_5_30_1","doi-asserted-by":"publisher","DOI":"10.1212\/01.wnl.0000168830.79997.13"},{"key":"e_1_2_5_31_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cell.2008.08.041"},{"key":"e_1_2_5_32_1","doi-asserted-by":"publisher","DOI":"10.5021\/ad.2009.21.1.46"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.37068","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.37068","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,6]],"date-time":"2023-10-06T15:50:55Z","timestamp":1696607455000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.37068"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015,4,21]]},"references-count":31,"journal-issue":{"issue":"7","published-print":{"date-parts":[[2015,7]]}},"alternative-id":["10.1002\/ajmg.a.37068"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.37068","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2015,4,21]]}}}