{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T06:13:10Z","timestamp":1790748790843,"version":"4.1.0"},"reference-count":40,"publisher":"Deutscher Arzte-Verlag GmbH","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"DOI":"10.3238\/arztebl.2020.0354","type":"journal-article","created":{"date-parts":[[2021,1,12]],"date-time":"2021-01-12T14:15:52Z","timestamp":1610460952000},"source":"Crossref","is-referenced-by-count":45,"title":["The Neurofibromatoses"],"prefix":"10.3238","author":[{"given":"Said","family":"Farschtschi","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Victor-Felix","family":"Mautner","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna Cecilia","family":"Lawson McLean","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alexander","family":"Schulz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Reinhard E.","family":"Friedrich","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Steffen K.","family":"Rosahl","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"11437","published-online":{"date-parts":[[2020,5,15]]},"reference":[{"key":"10.3238\/arztebl.2020.0354_ref1","doi-asserted-by":"crossref","unstructured":"Blakeley JO, Plotkin SR: Therapeutic advances for the tumors associated with neurofibromatosis type 1, type 2, and schwannomatosis. Neuro Oncol 2016; 18: 624\u201338","DOI":"10.1093\/neuonc\/nov200"},{"key":"10.3238\/arztebl.2020.0354_ref2","doi-asserted-by":"crossref","unstructured":"Kehrer-Sawatzki H, Farschtschi S, Mautner VF, Cooper DN: The molecular pathogenesis of schwannomatosis, a paradigm for the co-involvement of multiple tumour suppressor genes in tumorigenesis. Hum Genet 2017; 136: 129\u201348","DOI":"10.1007\/s00439-016-1753-8"},{"key":"10.3238\/arztebl.2020.0354_ref3","doi-asserted-by":"crossref","unstructured":"Hirbe AC, Gutmann DH: Neurofibromatosis type 1: a multidisciplinary approach to care. Lancet Neurol 2014; 13: 834\u201343","DOI":"10.1016\/S1474-4422(14)70063-8"},{"key":"10.3238\/arztebl.2020.0354_ref4","doi-asserted-by":"crossref","unstructured":"DeBella K, Szudek J, Friedman JM: Use of the national institutes of health criteria for diagnosis of neurofibromatosis 1 in children. Pediatrics 2000; 105: 608\u201314","DOI":"10.1542\/peds.105.3.608"},{"key":"10.3238\/arztebl.2020.0354_ref5","unstructured":"Mautner V-F, Lindenau M, Kaufmann D: Klinik und Genetik der Neurofibromatose. Dtsch Arztebl 1995; 92: A1759\u201364."},{"key":"10.3238\/arztebl.2020.0354_ref6","unstructured":"Agaimy A, Vassos N, Croner RS: Gastrointestinal manifestations of neurofibromatosis type 1 (Recklinghausen\u2018s disease): clinicopathological spectrum with pathogenetic considerations. Int J Clin Exp Pathol 2012; 5: 852\u201362."},{"key":"10.3238\/arztebl.2020.0354_ref7","doi-asserted-by":"crossref","unstructured":"Listernick R, Louis DN, Packer RJ, Gutmann DH: Optic pathway gliomas in children with neurofibromatosis 1: consensus statement from the NF1 Optic Pathway Glioma Task Force. Ann Neurol 1997; 41: 143\u20139","DOI":"10.1002\/ana.410410204"},{"key":"10.3238\/arztebl.2020.0354_ref8","doi-asserted-by":"crossref","unstructured":"Huson SM, Compston DA, Clark P, Harper PS: A genetic study of von Recklinghausen neurofibromatosis in south east Wales. I. Prevalence, fitness, mutation rate, and effect of parental transmission on severity. J Med Genet 1989; 26: 704\u201311.","DOI":"10.1136\/jmg.26.11.704"},{"key":"10.3238\/arztebl.2020.0354_ref9","doi-asserted-by":"crossref","unstructured":"Evans DG, Baser ME, McGaughran J, Sharif S, Howard E, Moran A: Malignant peripheral nerve sheath tumours in neurofibromatosis 1. J Med Genet 2002; 39: 311\u20134","DOI":"10.1136\/jmg.39.5.311"},{"key":"10.3238\/arztebl.2020.0354_ref10","doi-asserted-by":"crossref","unstructured":"Levine TM, Materek A, Abel J, O\u2018Donnell M, Cutting LE: Cognitive profile of neurofibromatosis type 1. Semin Pediatr Neurol 2006; 13: 8\u201320","DOI":"10.1016\/j.spen.2006.01.006"},{"key":"10.3238\/arztebl.2020.0354_ref11","doi-asserted-by":"crossref","unstructured":"Tucker T, Schnabel C, Hartmann M, et al.: Bone health and fracture rate in individuals with neurofibromatosis 1 (NF1). J Med Genet 2009; 46: 259\u201365","DOI":"10.1136\/jmg.2008.061895"},{"key":"10.3238\/arztebl.2020.0354_ref12","doi-asserted-by":"crossref","unstructured":"Dombi E, Baldwin A, Marcus LJ, et al.: Activity of selumetinib in neurofibromatosis type 1-related plexiform neurofibromas. N Engl J Med 2016; 375: 2550\u201360","DOI":"10.1056\/NEJMoa1605943"},{"key":"10.3238\/arztebl.2020.0354_ref13","doi-asserted-by":"crossref","unstructured":"Lin AL, Gutmann DH: Advances in the treatment of neurofibromatosis-associated tumours. Nat Rev Clin Oncol 2013; 10: 616\u201324","DOI":"10.1038\/nrclinonc.2013.144"},{"key":"10.3238\/arztebl.2020.0354_ref14","doi-asserted-by":"crossref","unstructured":"Kresak JL, Walsh M: Neurofibromatosis: a review of NF1, NF2, and schwannomatosis. J Pediatr Genet 2016; 5: 98\u2013104","DOI":"10.1055\/s-0036-1579766"},{"key":"10.3238\/arztebl.2020.0354_ref15","doi-asserted-by":"crossref","unstructured":"Hexter J, Jones A, Joe H, et al.: Clinical and molecular predictors of mortality in neurofibromatosis 2: a UK national analysis of 1\u00a0192 patients. J Med Genet 2015; 52: 699\u2013705","DOI":"10.1136\/jmedgenet-2015-103290"},{"key":"10.3238\/arztebl.2020.0354_ref16","doi-asserted-by":"crossref","unstructured":"Asthagiri AR, Parry DM, Butman JA, et al.: Neurofibromatosis type 2. Lancet 2009; 373: 1974\u201386","DOI":"10.1016\/S0140-6736(09)60259-2"},{"key":"10.3238\/arztebl.2020.0354_ref17","doi-asserted-by":"crossref","unstructured":"Schulz A, B\u00fcttner R, Hagel C, et al.: The importance of nerve microenvironment for schwannoma development. Acta Neuropathol 2016; 132: 289\u2013307","DOI":"10.1007\/s00401-016-1583-8"},{"key":"10.3238\/arztebl.2020.0354_ref18","doi-asserted-by":"crossref","unstructured":"Morrison H, Sperka T, Manent J, Giovannini M, Ponta H, Herrlich P: Merlin\/neurofibromatosis type 2 suppresses growth by inhibiting the activation of Ras and Rac. Cancer Res 2007; 67: 520\u20137","DOI":"10.1158\/0008-5472.CAN-06-1608"},{"key":"10.3238\/arztebl.2020.0354_ref19","doi-asserted-by":"crossref","unstructured":"Petrilli AM, Fern\u00e1ndez-Valle C: Role of Merlin\/NF2 inactivation in tumor biology. Oncogene 2016; 35: 537\u201348","DOI":"10.1038\/onc.2015.125"},{"key":"10.3238\/arztebl.2020.0354_ref20","doi-asserted-by":"crossref","unstructured":"Evans DGR, Ramsden RT, Shenton A, et al.: Mosaicism in neurofibromatosis type 2: an update of risk based on uni\/bilaterality of vestibular schwannoma at presentation and sensitive mutation analysis including multiple ligation-dependent probe amplification. J Med Genet 2007; 44: 424\u20138","DOI":"10.1136\/jmg.2006.047753"},{"key":"10.3238\/arztebl.2020.0354_ref21","doi-asserted-by":"crossref","unstructured":"Stivaros SM, Stemmer-Rachamimov AO, Alston R, et al.: Multiple synchronous sites of origin of vestibular schwannomas in neurofibromatosis Type 2. J Med Genet 2015; 52: 557\u201362","DOI":"10.1136\/jmedgenet-2015-103050"},{"key":"10.3238\/arztebl.2020.0354_ref22","doi-asserted-by":"crossref","unstructured":"Dewan R, Pemov A, Kim HJ, et al.: Evidence of polyclonality in neurofibromatosis type 2-associated multilobulated vestibular schwannomas. Neuro Oncol 2015; 17: 566\u201373","DOI":"10.1093\/neuonc\/nou317"},{"key":"10.3238\/arztebl.2020.0354_ref23","doi-asserted-by":"crossref","unstructured":"Samii M, Matthies C: Management of 1\u00a0000 vestibular schwannomas (acoustic neuromas): hearing function in 1\u00a0000 tumor resections. Neurosurgery 1997; 40: 248\u201360; discussion 260\u20132","DOI":"10.1097\/00006123-199701000-00001"},{"key":"10.3238\/arztebl.2020.0354_ref24","doi-asserted-by":"crossref","unstructured":"Slattery WH, Fisher LM, Hitselberger W, Friedman RA, Brackmann DE: Hearing preservation surgery for neurofibromatosis Type 2-related vestibular schwannoma in pediatric patients. J Neurosurg 2007; 106: 255\u201360","DOI":"10.3171\/ped.2007.106.4.255"},{"key":"10.3238\/arztebl.2020.0354_ref25","doi-asserted-by":"crossref","unstructured":"Rasmussen R, Claesson M, Stangerup SE, et al.: Fractionated stereotactic radiotherapy of vestibular schwannomas accelerates hearing loss. Int J Radiat Oncol Biol Phys 2012; 83: e607\u201311","DOI":"10.1016\/j.ijrobp.2012.01.078"},{"key":"10.3238\/arztebl.2020.0354_ref26","doi-asserted-by":"crossref","unstructured":"Plotkin SR, Merker VL, Halpin C, et al.: Bevacizumab for progressive vestibular schwannoma in neurofibromatosis type 2: a retrospective review of 31 patients. Otol Neurotol 2012; 33: 1046\u201352","DOI":"10.1097\/MAO.0b013e31825e73f5"},{"key":"10.3238\/arztebl.2020.0354_ref27","doi-asserted-by":"crossref","unstructured":"Best SR, Ahn J, Langmead S, et al.: Voice and swallowing dysfunction in neurofibromatosis 2. Otolaryngol Head Neck Surg 2018; 158: 505\u201310","DOI":"10.1177\/0194599817741839"},{"key":"10.3238\/arztebl.2020.0354_ref28","unstructured":"Evans DG, Huson SM, Donnai D, et al.: A clinical study of type 2 neurofibromatosis. Q J Med 1992; 84: 603\u201318."},{"key":"10.3238\/arztebl.2020.0354_ref29","doi-asserted-by":"crossref","unstructured":"Evans DG, Birch JM, Ramsden RT: Paediatric presentation of type 2 neurofibromatosis. Arch Dis Child 1999; 81: 496\u20139","DOI":"10.1136\/adc.81.6.496"},{"key":"10.3238\/arztebl.2020.0354_ref30","doi-asserted-by":"crossref","unstructured":"Wentworth S, Pinn M, Bourland JD, et al.: Clinical experience with radiation therapy in the management of neurofibromatosis-associated central nervous system tumors. Int J Radiat Oncol Biol Phys 2009; 73: 208\u201313","DOI":"10.1016\/j.ijrobp.2008.03.073"},{"key":"10.3238\/arztebl.2020.0354_ref31","doi-asserted-by":"crossref","unstructured":"Hagel C, Stemmer-Rachamimov AO, Bornemann A, et al.: Clinical presentation, immunohistochemistry and electron microscopy indicate neurofibromatosis type 2-associated gliomas to be spinal ependymomas. Neuropathology 2012; 32: 611\u20136","DOI":"10.1111\/j.1440-1789.2012.01306.x"},{"key":"10.3238\/arztebl.2020.0354_ref32","doi-asserted-by":"crossref","unstructured":"Plotkin SR, O\u2018Donnell CC, Curry WT, Bove CM, MacCollin M, Nunes FP: Spinal ependymomas in neurofibromatosis type 2: a retrospective analysis of 55 patients. J Neurosurg Spine 2011; 14: 543\u20137","DOI":"10.3171\/2010.11.SPINE10350"},{"key":"10.3238\/arztebl.2020.0354_ref33","doi-asserted-by":"crossref","unstructured":"Farschtschi S, Merker VL, Wolf D, et al.: Bevacizumab treatment for symptomatic spinal ependymomas in neurofibromatosis type 2. Acta Neurol Scand 2016; 133: 475\u201380","DOI":"10.1111\/ane.12490"},{"key":"10.3238\/arztebl.2020.0354_ref34","doi-asserted-by":"crossref","unstructured":"Lawson McLean AC, Rosahl SK: Growth dynamics of intracranial tumors in patients with neurofibromatosis type 2. World Neurosurg 2017; 98: 152\u201361","DOI":"10.1016\/j.wneu.2016.10.060"},{"key":"10.3238\/arztebl.2020.0354_ref35","doi-asserted-by":"crossref","unstructured":"Lawson McLean AC, Rosahl SK: Growth dynamics of intramedullary spinal tumors in patients with neurofibromatosis type 2. Clin Neurol Neurosurg 2016; 146: 130\u20137","DOI":"10.1016\/j.clineuro.2016.05.006"},{"key":"10.3238\/arztebl.2020.0354_ref36","doi-asserted-by":"crossref","unstructured":"Hagel C, Lindenau M, Lamszus K, Kluwe L, Stavrou D, Mautner VF: Polyneuropathy in neurofibromatosis 2: clinical findings, molecular genetics and neuropathological alterations in sural nerve biopsy specimens. Acta Neuropathol 2002; 104: 179\u201387","DOI":"10.1007\/s00401-002-0535-7"},{"key":"10.3238\/arztebl.2020.0354_ref37","doi-asserted-by":"crossref","unstructured":"B\u00e4umer P, Mautner VF, B\u00e4umer T, et al.: Accumulation of non-compressive fascicular lesions underlies NF2 polyneuropathy. J Neurol 2013; 260: 38\u201346","DOI":"10.1007\/s00415-012-6581-8"},{"key":"10.3238\/arztebl.2020.0354_ref38","doi-asserted-by":"crossref","unstructured":"Schulz A, Baader SL, Niwa-Kawakita M, et al.: Merlin isoform 2 in neurofibromatosis type 2-associated polyneuropathy. Nat Neurosci 2013; 16: 426\u201333","DOI":"10.1038\/nn.3348"},{"key":"10.3238\/arztebl.2020.0354_ref39","doi-asserted-by":"crossref","unstructured":"Evans DG, Bowers NL, Tobi S, et al.: Schwannomatosis: a genetic and epidemiological study. J Neurol Neurosurg Psychiatry 2018; 89: 1215\u20139","DOI":"10.1136\/jnnp-2018-318538"},{"key":"10.3238\/arztebl.2020.0354_ref40","doi-asserted-by":"crossref","unstructured":"Piotrowski A, Xie J, Liu YF, et al.: Germline loss-of-function mutations in LZTR1 predispose to an inherited disorder of multiple schwannomas. Nat Genet 2014; 46: 182\u20137","DOI":"10.1038\/ng.2855"}],"container-title":["Deutsches \u00c4rzteblatt international"],"original-title":[],"link":[{"URL":"https:\/\/www.aerzteblatt.de\/10.3238\/arztebl.2020.0354","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,12,6]],"date-time":"2021-12-06T10:04:05Z","timestamp":1638785045000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.aerzteblatt.de\/10.3238\/arztebl.2020.0354"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,5,15]]},"references-count":40,"URL":"https:\/\/doi.org\/10.3238\/arztebl.2020.0354","relation":{},"ISSN":["1866-0452"],"issn-type":[{"value":"1866-0452","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020,5,15]]}}}