{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,7]],"date-time":"2026-10-07T14:10:09Z","timestamp":1791382209840,"version":"4.3.3"},"reference-count":47,"publisher":"Springer Science and Business Media LLC","issue":"5","license":[{"start":{"date-parts":[[2016,7,15]],"date-time":"2016-07-15T00:00:00Z","timestamp":1468540800000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["HNO"],"published-print":{"date-parts":[[2017,5]]},"DOI":"10.1007\/s00106-016-0201-3","type":"journal-article","created":{"date-parts":[[2016,7,15]],"date-time":"2016-07-15T13:58:38Z","timestamp":1468591118000},"page":"362-372","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":22,"title":["Pathogenese und Molekularpathologie des Vestibularisschwannoms","Pathogenesis and molecular pathology of vestibular schwannoma"],"prefix":"10.1007","volume":"65","author":[{"given":"M.","family":"Brodhun","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"V.","family":"Stahn","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.","family":"Harder","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2016,7,15]]},"reference":[{"key":"201_CR1","doi-asserted-by":"publisher","first-page":"1974","DOI":"10.1016\/S0140-6736(09)60259-2","volume":"373","author":"AR Asthagiri","year":"2009","unstructured":"Asthagiri AR, Parry DM, Butman JA et\u00a0al (2009) Neurofibromatosis type 2. Lancet 373:1974\u20131986","journal-title":"Lancet"},{"key":"201_CR2","doi-asserted-by":"publisher","first-page":"332","DOI":"10.1038\/nature03096","volume":"432","author":"NA Bhowmick","year":"2004","unstructured":"Bhowmick NA, Neilson EG, Moses HL (2004) Stromal fibroblasts in cancer initiation and progression. Nature 432:332\u2013337","journal-title":"Nature"},{"key":"201_CR3","doi-asserted-by":"publisher","first-page":"540","DOI":"10.1002\/humu.20255","volume":"26","author":"PG Buckley","year":"2005","unstructured":"Buckley PG, Mantripragada KK, Diaz De Stahl T et\u00a0al (2005) Identification of genetic aberrations on chromosome 22 outside the NF2 locus in schwannomatosis and neurofibromatosis type 2. Hum Mutat 26:540\u2013549","journal-title":"Hum Mutat"},{"key":"201_CR4","doi-asserted-by":"publisher","first-page":"321","DOI":"10.1007\/s00401-011-0928-6","volume":"123","author":"SI Carroll","year":"2012","unstructured":"Carroll SI (2012) Molecular mechanisms promoting the pathogenesis of Schwann cell neoplasms. Acta Neuropathol 123:321\u2013348","journal-title":"Acta Neuropathol"},{"key":"201_CR5","doi-asserted-by":"publisher","first-page":"585","DOI":"10.1016\/j.humpath.2011.06.009","volume":"43","author":"M Molin Dal","year":"2012","unstructured":"Dal Molin M, Hong SM, Hebbar S et\u00a0al (2012) Loss of expression of the SWI\/SNF chromatin remodeling subunit BRG1\/SMARCA4 is frequently observed in intraductal papillary mucinous neoplasms of the pancreas. Hum Pathol 43:585\u2013591","journal-title":"Hum Pathol"},{"key":"201_CR6","doi-asserted-by":"publisher","first-page":"792","DOI":"10.1136\/jmg.2009.070342","volume":"46","author":"DG Evans","year":"2009","unstructured":"Evans DG, Wallace A (2009) An update on age related mosaic and offspring risk in neurofibromatosis 2 (NF2). J\u00a0Med Genet 46:792","journal-title":"J Med Genet"},{"key":"201_CR7","doi-asserted-by":"publisher","first-page":"2041","DOI":"10.1016\/j.febslet.2008.04.032","volume":"582","author":"AK Farrants","year":"2008","unstructured":"Farrants AK (2008) Chromatin remodelling and actin organisation. FEBS Lett 582:2041\u20132050","journal-title":"FEBS Lett"},{"key":"201_CR8","doi-asserted-by":"publisher","first-page":"493","DOI":"10.1093\/neuonc\/not242","volume":"16","author":"M Giovannini","year":"2014","unstructured":"Giovannini M, Bonne NX, Vitte J et\u00a0al (2014) mTORC1 inhibition delays growth of neurofibromatosis type 2 schwannoma. Neuro Oncol 16:493\u2013504","journal-title":"Neuro Oncol"},{"key":"201_CR9","doi-asserted-by":"crossref","first-page":"1617","DOI":"10.1101\/gad.14.13.1617","volume":"14","author":"M Giovannini","year":"2000","unstructured":"Giovannini M, Robanus-Maandag E, Van Der Valk M et al (2000) Conditional biallelic Nf2 mutation in the mouse promotes manifestations of human neurofibromatosis type 2. Genes Dev 14:1617\u20131630","journal-title":"Genes Dev"},{"key":"201_CR10","doi-asserted-by":"publisher","first-page":"725","DOI":"10.1016\/j.biocel.2008.04.026","volume":"41","author":"GM Halliday","year":"2009","unstructured":"Halliday GM, Bock VL, Moloney FJ et al (2009) SWI\/SNF: a chromatin-remodelling complex with a role in carcinogenesis. Int J Biochem Cell Biol 41:725\u2013728","journal-title":"Int J Biochem Cell Biol"},{"key":"201_CR11","doi-asserted-by":"publisher","first-page":"702","DOI":"10.1097\/PAS.0b013e31824d3155","volume":"36","author":"A Harder","year":"2012","unstructured":"Harder A, Wesemann M, Hagel C et\u00a0al (2012) Hybrid neurofibroma\/schwannoma is overrepresented among schwannomatosis and neurofibromatosis patients. Am J Surg Pathol 36:702\u2013709","journal-title":"Am J Surg Pathol"},{"key":"201_CR12","doi-asserted-by":"publisher","first-page":"449","DOI":"10.1007\/s00401-014-1311-1","volume":"128","author":"S Hutter","year":"2014","unstructured":"Hutter S, Piro Rm RM, Reuss DE et\u00a0al (2014) Whole exome sequencing reveals that the majority of schwannomatosis cases remain unexplained after excluding SMARCB1 and LZTR1 germline variants. Acta Neuropathol 128:449\u2013452","journal-title":"Acta Neuropathol"},{"key":"201_CR13","doi-asserted-by":"publisher","first-page":"1163","DOI":"10.1093\/neuonc\/nos146","volume":"14","author":"MA Karajannis","year":"2012","unstructured":"Karajannis MA, Legault G, Hagiwara M et\u00a0al (2012) Phase II trial of lapatinib in adult and pediatric patients with neurofibromatosis type 2 and progressive vestibular schwannomas. Neuro Oncol 14:1163\u20131170","journal-title":"Neuro Oncol"},{"key":"201_CR14","doi-asserted-by":"publisher","first-page":"292","DOI":"10.1093\/neuonc\/not150","volume":"16","author":"MA Karajannis","year":"2014","unstructured":"Karajannis MA, Legault G, Hagiwara M et\u00a0al (2014) Phase II study of everolimus in children and adults with neurofibromatosis type 2 and progressive vestibular schwannomas. Neuro Oncol 16:292\u2013297","journal-title":"Neuro Oncol"},{"key":"201_CR15","doi-asserted-by":"publisher","first-page":"441","DOI":"10.1046\/j.1365-2443.2001.00432.x","volume":"6","author":"T Kino","year":"2001","unstructured":"Kino T, Takeshima H, Nakao M et al (2001) Identification of the cis-acting region in the NF2 gene promoter as a potential target for mutation and methylation-dependent silencing in schwannoma. Genes Cells 6:441\u2013454","journal-title":"Genes Cells"},{"key":"201_CR16","doi-asserted-by":"publisher","first-page":"33","DOI":"10.1159\/000334968","volume":"74","author":"D Koutsimpelas","year":"2012","unstructured":"Koutsimpelas D, Ruerup G, Mann WJ et\u00a0al (2012) Lack of neurofibromatosis type 2 gene promoter methylation in sporadic vestibular schwannomas. ORL J Otorhinolaryngol Relat Spec 74:33\u201337","journal-title":"ORL J Otorhinolaryngol Relat Spec"},{"key":"201_CR17","doi-asserted-by":"publisher","first-page":"1709","DOI":"10.1016\/j.ejca.2009.03.013","volume":"45","author":"TX Lee","year":"2009","unstructured":"Lee TX, Packer MD, Huang J et al (2009) Growth inhibitory and anti-tumour activities of OSU-03012, a novel PDK-1 inhibitor, on vestibular schwannoma and malignant schwannoma cells. Eur J Cancer 45:1709\u20131720","journal-title":"Eur J Cancer"},{"key":"201_CR18","doi-asserted-by":"publisher","first-page":"477","DOI":"10.1016\/j.cell.2010.01.029","volume":"140","author":"W Li","year":"2010","unstructured":"Li W, You L, Cooper J et\u00a0al (2010) Merlin\/NF2 suppresses tumorigenesis by inhibiting the E3 ubiquitin ligase CRL4(DCAF1) in the nucleus. Cell 140:477\u2013490","journal-title":"Cell"},{"key":"201_CR19","doi-asserted-by":"publisher","first-page":"441","DOI":"10.1002\/path.2064","volume":"210","author":"GE Lind","year":"2006","unstructured":"Lind GE, Skotheim RI, Fraga MF et al (2006) Novel epigenetically deregulated genes in testicular cancer include homeobox genes and SCGB3A1 (HIN-1). J Pathol 210:441\u2013449","journal-title":"J Pathol"},{"key":"201_CR20","doi-asserted-by":"publisher","first-page":"1838","DOI":"10.1212\/01.WNL.0000163982.78900.AD","volume":"64","author":"M Maccollin","year":"2005","unstructured":"Maccollin M, Chiocca EA, Evans DG et\u00a0al (2005) Diagnostic criteria for schwannomatosis. Neurology 64:1838\u20131845","journal-title":"Neurology"},{"key":"201_CR21","doi-asserted-by":"publisher","first-page":"1072","DOI":"10.1212\/WNL.46.4.1072","volume":"46","author":"M Maccollin","year":"1996","unstructured":"Maccollin M, Woodfin W, Kronn D et\u00a0al (1996) Schwannomatosis: a clinical and pathologic study. Neurology 46:1072\u20131079","journal-title":"Neurology"},{"key":"201_CR22","doi-asserted-by":"publisher","first-page":"3491","DOI":"10.1038\/onc.2012.374","volume":"32","author":"PK Manchanda","year":"2013","unstructured":"Manchanda PK, Jones GN, Lee AA et al (2013) Rac1 is required for Prkar1a-mediated Nf2 suppression in Schwann cell tumors. Oncogene 32:3491\u20133499","journal-title":"Oncogene"},{"key":"201_CR23","doi-asserted-by":"publisher","first-page":"198","DOI":"10.1016\/j.tcb.2009.02.006","volume":"19","author":"AI McClatchey","year":"2009","unstructured":"McClatchey AI, Fehon RG (2009) Merlin and the ERM proteins \u2013 regulators of receptor distribution and signaling at the cell cortex. Trends Cell Biol 19:198\u2013206","journal-title":"Trends Cell Biol"},{"key":"201_CR24","doi-asserted-by":"publisher","first-page":"2265","DOI":"10.1101\/gad.1335605","volume":"19","author":"AI McClatchey","year":"2005","unstructured":"McClatchey AI, Giovannini M (2005) Membrane organization and tumorigenesis \u2013 the NF2 tumor suppressor, Merlin. Genes Dev 19:2265\u20132277","journal-title":"Genes Dev"},{"key":"201_CR25","doi-asserted-by":"publisher","first-page":"43","DOI":"10.1038\/nature12222","volume":"499","author":"CGAR Network","year":"2013","unstructured":"Network Cgar (2013) Comprehensive molecular characterization of clear cell renal cell carcinoma. Nature 499:43\u201349","journal-title":"Nature"},{"key":"201_CR26","doi-asserted-by":"publisher","DOI":"10.1007\/s00106-016-0201-3","author":"I Paganini","year":"2014","unstructured":"Paganini I, Chang VY, Capone GI et\u00a0al (2014) Expanding the mutational spectrum of LZTR1 in schwannomatosis. Eur J Hum Genet. DOI:10.1007\/s00106-016-0201-3","journal-title":"Eur J Hum Genet"},{"key":"201_CR27","doi-asserted-by":"crossref","first-page":"517","DOI":"10.1111\/j.1750-3639.2008.00155.x","volume":"18","author":"S Patil","year":"2008","unstructured":"Patil S, Perry A, Maccollin M et\u00a0al (2008) Immunohistochemical analysis supports a role for INI1\/SMARCB1 in hereditary forms of schwannomas, but not in solitary, sporadic schwannomas. Brain Pathol 18:517\u2013519","journal-title":"Brain Pathol"},{"key":"201_CR28","doi-asserted-by":"publisher","first-page":"865","DOI":"10.1038\/ncb1895","volume":"11","author":"G Peng","year":"2009","unstructured":"Peng G, Yim EK, Dai H et\u00a0al (2009) BRIT1\/MCPH1 links chromatin remodelling to DNA damage response. Nat Cell Biol 11:865\u2013872","journal-title":"Nat Cell Biol"},{"key":"201_CR29","doi-asserted-by":"publisher","first-page":"182","DOI":"10.1038\/ng.2855","volume":"46","author":"A Piotrowski","year":"2014","unstructured":"Piotrowski A, Xie J, Liu YF et al (2014) Germline loss-of-function mutations in LZTR1 predispose to an inherited disorder of multiple schwannomas. Nat Genet 46:182\u2013187","journal-title":"Nat Genet"},{"key":"201_CR30","doi-asserted-by":"publisher","first-page":"1135","DOI":"10.1097\/MAO.0b013e3181eb328a","volume":"31","author":"SR Plotkin","year":"2010","unstructured":"Plotkin SR, Halpin C, McKenna MJ et\u00a0al (2010) Erlotinib for progressive vestibular schwannoma in neurofibromatosis 2 patients. Otol Neurotol 31:1135\u20131143","journal-title":"Otol Neurotol"},{"key":"201_CR31","doi-asserted-by":"publisher","first-page":"358","DOI":"10.1056\/NEJMoa0902579","volume":"361","author":"SR Plotkin","year":"2009","unstructured":"Plotkin SR, Stemmer-Rachamimov AO, Barker FG 2nd et al (2009) Hearing improvement after bevacizumab in patients with neurofibromatosis type 2. N Engl J Med 361:358\u2013367","journal-title":"N Engl J Med"},{"key":"201_CR32","doi-asserted-by":"publisher","first-page":"2824","DOI":"10.1073\/pnas.032662899","volume":"99","author":"OJ Rando","year":"2002","unstructured":"Rando OJ, Zhao K, Janmey P et al (2002) Phosphatidylinositol-dependent actin filament binding by the SWI\/SNF-like BAF chromatin remodeling complex. Proc Natl Acad Sci U S A 99:2824\u20132829","journal-title":"Proc Natl Acad Sci U S A"},{"key":"201_CR33","first-page":"1782","volume":"7","author":"Q Rao","year":"2014","unstructured":"Rao Q, Xia QY, Shen Q et\u00a0al (2014) Coexistent loss of INI1 and BRG1 expression in a rhabdoid renal cell carcinoma (RCC): implications for a possible role of SWI\/SNF complex in the pathogenesis of RCC. Int J Clin Exp Pathol 7:1782\u20131787","journal-title":"Int J Clin Exp Pathol"},{"key":"201_CR34","doi-asserted-by":"publisher","first-page":"133","DOI":"10.1038\/nrc1273","volume":"4","author":"CW Roberts","year":"2004","unstructured":"Roberts CW, Orkin SH (2004) The SWI\/SNF complex \u2013 chromatin and cancer. Nat Rev Cancer 4:133\u2013142","journal-title":"Nat Rev Cancer"},{"key":"201_CR35","doi-asserted-by":"publisher","first-page":"1033","DOI":"10.1056\/NEJM198810203191601","volume":"319","author":"E Ron","year":"1988","unstructured":"Ron E, Modan B, Boice JD et\u00a0al (1988) Tumors of the brain and nervous system after radiotherapy in childhood. N Engl J Med 319:1033\u20131039","journal-title":"N Engl J Med"},{"key":"201_CR36","first-page":"113","volume":"47","author":"M Salvati","year":"2003","unstructured":"Salvati M, Polli FM, Caroli E et al (2003) Radiation-induced schwannomas of the nervous system. Report of five cases and review of the literature. J Neurosurg Sci 47:113\u2013116 (discussion 116)","journal-title":"J Neurosurg Sci"},{"key":"201_CR37","doi-asserted-by":"publisher","first-page":"1219","DOI":"10.4161\/epi.22299","volume":"7","author":"GW Santen","year":"2012","unstructured":"Santen GW, Kriek M, Van Attikum H (2012) SWI\/SNF complex in disorder: SWItching from malignancies to intellectual disability. Epigenetics 7:1219\u20131224","journal-title":"Epigenetics"},{"key":"201_CR38","doi-asserted-by":"publisher","first-page":"73","DOI":"10.1215\/15228517-2007-047","volume":"10","author":"AB Schneider","year":"2008","unstructured":"Schneider AB, Ron E, Lubin J et\u00a0al (2008) Acoustic neuromas following childhood radiation treatment for benign conditions of the head and neck. Neuro Oncol 10:73\u201378","journal-title":"Neuro Oncol"},{"key":"201_CR39","doi-asserted-by":"publisher","first-page":"279","DOI":"10.1016\/j.ajhg.2010.01.013","volume":"86","author":"R Schneppenheim","year":"2010","unstructured":"Schneppenheim R, Fruhwald MC, Gesk S et\u00a0al (2010) Germline nonsense mutation and somatic inactivation of SMARCA4\/BRG1 in a family with rhabdoid tumor predisposition syndrome. Am J Hum Genet 86:279\u2013284","journal-title":"Am J Hum Genet"},{"key":"201_CR40","doi-asserted-by":"publisher","first-page":"227","DOI":"10.1002\/humu.20679","volume":"29","author":"R Sestini","year":"2008","unstructured":"Sestini R, Bacci C, Provenzano A et al (2008) Evidence of a four \u2013 hit mechanism involving SMARCB1 and NF2 in schwannomatosis-associated schwannomas. Hum Mutat 29:227\u2013231","journal-title":"Hum Mutat"},{"issue":"2","key":"201_CR41","doi-asserted-by":"publisher","first-page":"141","DOI":"10.1212\/WNL.0000000000001129","volume":"84","author":"MJ Smith","year":"2014","unstructured":"Smith MJ, Isidor B, Beetz C et\u00a0al (2014) Mutations in LZTR1 add to the complex heterogeneity of schwannomatosis. Neurology 84(2):141\u2013147","journal-title":"Neurology"},{"key":"201_CR42","doi-asserted-by":"publisher","first-page":"3856","DOI":"10.1158\/1078-0432.CCR-12-3167","volume":"19","author":"K Tanaka","year":"2013","unstructured":"Tanaka K, Eskin A, Chareyre F et\u00a0al (2013) Therapeutic potential of HSP90 inhibition for neurofibromatosis type 2. Clin Cancer Res 19:3856\u20133870","journal-title":"Clin Cancer Res"},{"key":"201_CR43","doi-asserted-by":"publisher","first-page":"1532","DOI":"10.1056\/NEJMoa1008433","volume":"363","author":"KC Wiegand","year":"2010","unstructured":"Wiegand KC, Shah SP, Al-Agha OM et al (2010) ARID1A mutations in endometriosis-associated ovarian carcinomas. N Engl J Med 363:1532\u20131543","journal-title":"N Engl J Med"},{"key":"201_CR44","doi-asserted-by":"publisher","first-page":"733","DOI":"10.1097\/00000478-198112000-00001","volume":"5","author":"JM Woodruff","year":"1981","unstructured":"Woodruff JM, Godwin TA, Erlandson RA et\u00a0al (1981) Cellular schwannoma: a variety of schwannoma sometimes mistaken for a malignant tumor. Am J Surg Pathol 5:733\u2013744","journal-title":"Am J Surg Pathol"},{"key":"201_CR45","doi-asserted-by":"publisher","first-page":"847","DOI":"10.1111\/his.12334","volume":"64","author":"X Qy","year":"2014","unstructured":"Qy X, Rao Q, Cheng L et\u00a0al (2014) Loss of BRM expression is a frequently observed event in poorly differentiated clear cell renal cell carcinoma. Histopathology 64:847\u2013862","journal-title":"Histopathology"},{"key":"201_CR46","doi-asserted-by":"publisher","first-page":"787","DOI":"10.1038\/gim.2014.39","volume":"16","author":"K Zhang","year":"2014","unstructured":"Zhang K, Lin JW, Wang J et\u00a0al (2014) A germline missense mutation in COQ6 is associated with susceptibility to familial schwannomatosis. Genet Med 16:787\u2013792","journal-title":"Genet Med"},{"key":"201_CR47","doi-asserted-by":"publisher","first-page":"27","DOI":"10.1016\/j.devcel.2010.06.015","volume":"19","author":"N Zhang","year":"2010","unstructured":"Zhang N, Bai H, David KK et\u00a0al (2010) The Merlin\/NF2 tumor suppressor functions through the YAP oncoprotein to regulate tissue homeostasis in mammals. Dev Cell 19:27\u201338","journal-title":"Dev Cell"}],"container-title":["HNO"],"original-title":[],"language":"de","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s00106-016-0201-3.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1007\/s00106-016-0201-3\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s00106-016-0201-3","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s00106-016-0201-3.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,6,18]],"date-time":"2024-06-18T07:25:52Z","timestamp":1718695552000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/s00106-016-0201-3"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016,7,15]]},"references-count":47,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2017,5]]}},"alternative-id":["201"],"URL":"https:\/\/doi.org\/10.1007\/s00106-016-0201-3","relation":{},"ISSN":["0017-6192","1433-0458"],"issn-type":[{"value":"0017-6192","type":"print"},{"value":"1433-0458","type":"electronic"}],"subject":[],"published":{"date-parts":[[2016,7,15]]}}}