Evans DR (2009) Neurofibromatosis type 2 (NF2): a clinical and molecular review. Orphanet J Rare Dis 4:16. https://doi.org/10.1186/1750-1172-4-16

Article  PubMed Central  PubMed  Google Scholar 

Moualed D, Wong J, Thomas O, Heal C, Saqib R, Choi C, Lloyd S, Rutherford S, Stapleton E, Hammerbeck-Ward C, Pathmanaban O, Laitt R, Smith M, Wallace A, Kellett M, Evans G, King A, Freeman S (2022) Prevalence and natural history of schwannomas in neurofibromatosis type 2 (NF2): the influence of pathogenic variants. Eur J Hum Genet 30:458–464. https://doi.org/10.1038/s41431-021-01029-y

Article  CAS  PubMed Central  PubMed  Google Scholar 

Plotkin SR, Messiaen L, Legius E, Pancza P, Avery RA, Blakeley JO, Babovic-Vuksanovic D, Ferner R, Fisher MJ, Friedman JM, Giovannini M, Gutmann DH, Hanemann CO, Kalamarides M, Kehrer-Sawatzki H, Korf BR, Mautner VF, MacCollin M, Papi L, Rauen KA, Riccardi V, Schorry E, Smith MJ, Stemmer-Rachamimov A, Stevenson DA, Ullrich NJ, Viskochil D, Wimmer K, Yohay K, International Consensus Group on Neurofibromatosis Diagnostic, Huson C, Wolkenstein SM, Evans P (2022) DG Updated diagnostic criteria and nomenclature for neurofibromatosis type 2 and schwannomatosis: an international consensus recommendation. Genet Med 24:1967–1977 https://doi.org/10.1016/j.gim.2022.05.007

Peyre M, Goutagny S, Bah A, Bernardeschi D, Larroque B, Sterkers O, Kalamarides M (2013) Conservative management of bilateral vestibular schwannomas in neurofibromatosis type 2 patients: hearing and tumor growth results. Neurosurgery 72:907–913 discussion 914; quiz 914. https://doi.org/10.1227/NEU.0b013e31828bae28

Article  PubMed  Google Scholar 

Evans DG, Halliday D, Obholzer R, Afridi S, Forde C, Rutherford SA, Hammerbeck-Ward C, Lloyd SK, Freeman SM, Pathmanaban ON, Thomas OM, Laitt RD, Stivaros S, Kilday JP, Vassallo G, McBain C, Lavin T, Paterson C, Whitfield G, McCabe MG, Axon PR, Halliday J, Mackeith S, Parry A, English Specialist NFRG, Harkness EF, Buttimore J, King AT (2023) Radiation treatment of benign tumors in NF2-related-schwannomatosis: a national study of 266 irradiated patients showing a significant increase in malignancy/malignant progression. Neurooncol Adv 5:vdad025. https://doi.org/10.1093/noajnl/vdad025

Article  PubMed Central  PubMed  Google Scholar 

Cumpston EC, Rhodes SD, Yates CW (2023) Advances in targeted therapy for neurofibromatosis type 2 (NF2)-associated vestibular schwannomas. Curr Oncol Rep 25:531–537. https://doi.org/10.1007/s11912-023-01388-3

Article  PubMed  Google Scholar 

Donna M, Phioanh Leia N (2019) Neurofibromatosis type 2: current trends and future directions for targeted Biologic therapies. In: Francesco S, Raffaella M (eds) Neurofibromatosis. IntechOpen, Rijeka. Ch. 3

Google Scholar 

Evans DG, Kalamarides M, Hunter-Schaedle K, Blakeley J, Allen J, Babovic-Vuskanovic D, Belzberg A, Bollag G, Chen R, DiTomaso E, Golfinos J, Harris G, Jacob A, Kalpana G, Karajannis M, Korf B, Kurzrock R, Law M, McClatchey A, Packer R, Roehm P, Rubenstein A, Slattery W 3rd, Tonsgard JH, Welling DB, Widemann B, Yohay K, Giovannini M (2009) Consensus recommendations to accelerate clinical trials for neurofibromatosis type 2. Clin Cancer Res 15:5032–5039. https://doi.org/10.1158/1078-0432.CCR-08-3011

Article  PubMed Central  PubMed  Google Scholar 

Plotkin SR, Allen J, Dhall G, Campian JL, Clapp DW, Fisher MJ, Jain RK, Tonsgard J, Ullrich NJ, Thomas C, Edwards LJ, Korf B, Packer R, Karajannis MA, Blakeley JO (2023) Multicenter, prospective, phase II study of maintenance bevacizumab for children and adults with NF2-related schwannomatosis and progressive vestibular schwannoma. Neuro Oncol 25:1498–1506. https://doi.org/10.1093/neuonc/noad066

Article  CAS  PubMed Central  Google Scholar 

Plotkin SR, Duda DG, Muzikansky A, Allen J, Blakeley J, Rosser T, Campian JL, Clapp DW, Fisher MJ, Tonsgard J, Ullrich N, Thomas C, Cutter G, Korf B, Packer R, Karajannis MA (2019) Multicenter, prospective, phase II and biomarker study of high-dose bevacizumab as induction therapy in patients with neurofibromatosis type 2 and progressive vestibular schwannoma. J Clin Oncol 37:3446–3454. https://doi.org/10.1200/jco.19.01367

Article  CAS  PubMed Central  PubMed  Google Scholar 

Plotkin SR, Stemmer-Rachamimov AO, Barker FG 2nd, Halpin C, Padera TP, Tyrrell A, Sorensen AG, Jain RK, di Tomaso E (2009) Hearing improvement after bevacizumab in patients with neurofibromatosis type 2. N Engl J Med 361:358–367. https://doi.org/10.1056/NEJMoa0902579

Article  CAS  PubMed Central  PubMed  Google Scholar 

Killeen DE, Klesse L, Tolisano AM, Hunter JB, Kutz JW (2019) Long-term effects of bevacizumab on vestibular schwannoma volume in neurofibromatosis type 2 patients. J Neurol Surg B 80:540–546. https://doi.org/10.1055/s-0038-1676628

Article  Google Scholar 

Slusarz KM, Merker VL, Muzikansky A, Francis SA, Plotkin SR (2014) Long-term toxicity of bevacizumab therapy in neurofibromatosis 2 patients. Cancer Chemother Pharmacol 73:1197–1204. https://doi.org/10.1007/s00280-014-2456-2

Article  CAS  PubMed  Google Scholar 

Karajannis MA, Legault G, Hagiwara M, Ballas MS, Brown K, Nusbaum AO, Hochman T, Goldberg JD, Koch KM, Golfinos JG, Roland JT, Allen JC (2012) Phase II trial of lapatinib in adult and pediatric patients with neurofibromatosis type 2 and progressive vestibular schwannomas. Neuro Oncol 14:1163–1170. https://doi.org/10.1093/neuonc/nos146

Article  CAS  PubMed Central  PubMed  Google Scholar 

Plotkin SR, Halpin C, McKenna MJ, Loeffler JS, Batchelor TT, Barker FG 2nd (2010) Erlotinib for progressive vestibular schwannoma in neurofibromatosis 2 patients. Otol Neurotol 31:1135–1143. https://doi.org/10.1097/MAO.0b013e3181eb328a

Article  PubMed Central  PubMed  Google Scholar 

James MF, Han S, Polizzano C, Plotkin SR, Manning BD, Stemmer-Rachamimov AO, Gusella JF, Ramesh V (2009) NF2/merlin is a novel negative regulator of mTOR complex 1, and activation of mTORC1 is associated with meningioma and schwannoma growth. Mol Cell Biol 29:4250–4261. https://doi.org/10.1128/mcb.01581-08

Article  CAS  PubMed Central  PubMed  Google Scholar 

James MF, Stivison E, Beauchamp R, Han S, Li H, Wallace MR, Gusella JF, Stemmer-Rachamimov AO, Ramesh V (2012) Regulation of mTOR complex 2 signaling in neurofibromatosis 2-deficient target cell types. Mol cancer Research: MCR 10:649–659. https://doi.org/10.1158/1541-7786.mcr-11-0425-t

Article  CAS  PubMed  Google Scholar 

Giovannini M, Bonne NX, Vitte J, Chareyre F, Tanaka K, Adams R, Fisher LM, Valeyrie-Allanore L, Wolkenstein P, Goutagny S, Kalamarides M (2014) mTORC1 inhibition delays growth of neurofibromatosis type 2 schwannoma. Neuro Oncol 16:493–504. https://doi.org/10.1093/neuonc/not242

Article  CAS  PubMed Central  PubMed  Google Scholar 

Franz DN, Belousova E, Sparagana S, Bebin EM, Frost M, Kuperman R, Witt O, Kohrman MH, Flamini JR, Wu JY, Curatolo P, de Vries PJ, Whittemore VH, Thiele EA, Ford JP, Shah G, Cauwel H, Lebwohl D, Sahmoud T, Jozwiak S (2013) Efficacy and safety of everolimus for subependymal giant cell astrocytomas associated with tuberous sclerosis complex (EXIST-1): a multicentre, randomised, placebo-controlled phase 3 trial. Lancet 381:125–132. https://doi.org/10.1016/s0140-6736(12)61134-9

Article  CAS  PubMed  Google Scholar 

Goutagny S, Raymond E, Esposito-Farese M, Trunet S, Mawrin C, Bernardeschi D, Larroque B, Sterkers O, Giovannini M, Kalamarides M (2015) Phase II study of mTORC1 inhibition by everolimus in neurofibromatosis type 2 patients with growing vestibular schwannomas. J Neurooncol 122:313–320. https://doi.org/10.1007/s11060-014-1710-0

Article  CAS  PubMed  Google Scholar 

Karajannis MA, Legault G, Hagiwara M, Giancotti FG, Filatov A, Derman A, Hochman T, Goldberg JD, Vega E, Wisoff JH, Golfinos JG, Merkelson A, Roland JT, Allen JC (2014) Phase II study of everolimus in children and adults with neurofibromatosis type 2 and progressive vestibular schwannomas. Neuro Oncol 16:292–297. https://doi.org/10.1093/neuonc/not150

Article  CAS  PubMed  Google Scholar 

Trotti A, Colevas AD, Setser A, Rusch V, Jaques D, Budach V, Langer C, Murphy B, Cumberlin R, Coleman CN, Rubin P (2003) CTCAE v3.0: development of a comprehensive grading system for the adverse effects of cancer treatment. Semin Radiat Oncol 13:176–181. https://doi.org/10.1016/S1053-4296(03)00031-6

Article  PubMed  Google Scholar 

Dombi E, Ardern-Holmes SL, Babovic-Vuksanovic D, Barker FG, Connor S, Evans DG, Fisher MJ, Goutagny S, Harris GJ, Jaramillo D, Karajannis MA, Korf BR, Mautner V, Plotkin SR, Poussaint TY, Robertson K, Shih CS, Widemann BC, Collaboration REI (2013) Recommendations for imaging tumor response in neurofibromatosis clinical trials. Neurology 81:S33–40. https://doi.org/10.1212/01.wnl.0000435744.57038.af

Article  PubMed Central  PubMed  Google Scholar 

Plotkin SR, Halpin C, Blakeley JO, Slattery WH 3rd, Welling DB, Chang SM, Loeffler JS, Harris GJ, Sorensen AG, McKenna MJ, Barker FG 2nd (2009) Suggested response criteria for phase II antitumor drug studies for neurofibromatosis type 2 related vestibular schwannoma. J Neurooncol 93:61–77. https://doi.org/10.1007/s11060-009-9867-7

Article  CAS  PubMed Central  PubMed  Google Scholar 

Blakeley JO, Evans DG, Adler J, Brackmann D, Chen R, Ferner RE, Hanemann CO, Harris G, Huson SM, Jacob A, Kalamarides M, Karajannis MA, Korf BR, Mautner VF, McClatchey AI, Miao H, Plotkin SR, Slattery W 3rd, Stemmer-Rachamimov AO, Welling DB, Wen PY, Widemann B, Hunter-Schaedle K, Giovannini M (2012) Consensus recommendations for current treatments and accelerating clinical trials for patients with neurofibromatosis type 2. Am J Med Genet A 158A:24–41. https://doi.org/10.1002/ajmg.a.34359

Article  PubMed  Google Scholar 

Merker VL, Bergner AL, Vranceanu AM, Muzikansky A, Slattery W 3rd, Plotkin SR (2016) Health-related quality of life of individuals with neurofibromatosis type 2: results from the NF2 natural history study. Otol Neurotol 37:574–579. https://doi.org/10.1097/mao.0000000000001019

Article  PubMed  Google Scholar 

Hornigold RE, Golding JF, Leschziner G, Obholzer R, Gleeson MJ, Thomas N, Walsh D, Saeed S, Ferner RE (2012) The NFTI-QOL: a disease-specific quality of life questionnaire for neurofibromatosis 2. J Neurol Surg Part B Skull base 73:104–111. https://doi.org/10.1055/s-0032-1301396

Article  Google Scholar 

Ferner RE, Shaw A, Evans DG, McAleer D, Halliday D, Parry A, Raymond FL, Durie-Gair J, Hanemann CO, Hornigold R, Axon P, Golding JF (2014) Longitudinal evaluation of quality of life in 288 patients with neurofibromatosis 2. J Neurol 261:963–969. https://doi.org/10.1007/s00415-014-7303-1

Article  PubMed Central  PubMed  Google Scholar 

Ware JE Jr., Sherbourne CD (1992) The MOS 36-item short-form health survey (SF-36). I. conceptual framework and item selection. Med Care 30:473–483

Article  PubMed  Google Scholar 

Newman CW, Jacobson GP, Spitzer JB (1996) Development of the Tinnitus Handicap Inventory. Archives otolaryngology–head neck Surg 122:143–148. https://doi.org/10.1001/archotol.1996.01890140029007

Article  CAS