Page 26 - Read Online
P. 26
Lightner. Rare Dis Orphan Drugs J. 2026;5:1 Page 7 of 9
17. Sperfeld AD, Hein C, Schröder JM, Ludolph AC, Hanemann CO. Occurrence and characterization of peripheral nerve involvement in
neurofibromatosis type 2. Brain. 2002;125:996-1004. DOI
18. Hexter A, Jones A, Joe H, et al. Clinical and molecular predictors of mortality in neurofibromatosis 2: a UK national analysis of 1192
patients. J Med Genet. 2015;52:699-705. DOI
19. Forde C, King AT, Rutherford SA, et al. Disease course of neurofibromatosis type 2: a 30-year follow-up study of 353 patients seen at a
single institution. Neuro Oncol. 2021;23:1113-24. DOI PubMed PMC
20. Evans DG, Birch JM, Ramsden RT. Paediatric presentation of type 2 neurofibromatosis. Arch Dis Child. 1999;81:496-9. DOI PubMed
PMC
21. Feucht M, Griffiths B, Niemüller I, et al. Neurofibromatosis 2 leads to higher incidence of strabismological and neuro-ophthalmological
disorders. Acta Ophthalmol. 2008;86:882-6. DOI
22. Ruggieri M, Iannetti P, Polizzi A, et al. Earliest clinical manifestations and natural history of neurofibromatosis type 2 (NF2) in
childhood: a study of 24 patients. Neuropediatrics. 2005;36:21-34. DOI
23. Pathmanaban ON, Sadler KV, Kamaly-Asl ID, et al. Association of genetic predisposition with solitary schwannoma or meningioma in
children and young adults. JAMA Neurol. 2017;74:1123-9. DOI PubMed PMC
24. Halliday D, Emmanouil B, Evans DG. Updated protocol for genetic testing, screening and clinical management of individuals at-risk of
NF2-related schwannomatosis. Clin Genet. 2023;103:540-52. DOI PubMed
25. Halliday D, Parry A, Evans DG. Neurofibromatosis type 2 and related disorders. Curr Opin Oncol. 2019;31:562-7. DOI
26. Evans DG, Moran A, King A, Saeed S, Gurusinghe N, Ramsden R. Incidence of vestibular schwannoma and neurofibromatosis 2 in the
North West of England over a 10-year period: higher incidence than previously thought. Otol Neurotol. 2005;26:93-7. DOI
27. Evans DG, 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;44:424-8. DOI PubMed PMC
28. Plotkin SR, Messiaen L, Legius E, et al.; International Consensus Group on Neurofibromatosis Diagnostic Criteria (I-NF-DC). Updated
diagnostic criteria and nomenclature for neurofibromatosis type 2 and schwannomatosis: an international consensus recommendation.
Genet Med. 2022;24:1967-7. DOI PubMed
29. Jiramongkolchai P, Schwartz MS, Friedman RA. Management of Neurofibromatosis Type 2-Associated Vestibular Schwannomas.
Otolaryngol Clin North Am. 2023;56:533-41. DOI PubMed
30. Rowe JG, Radatz MW, Walton L, Soanes T, Rodgers J, Kemeny AA. Clinical experience with gamma knife stereotactic radiosurgery in
the management of vestibular schwannomas secondary to type 2 neurofibromatosis. J Neurol Neurosurg Psychiatry. 2003;74:1288-93.
DOI PubMed PMC
31. Tosi U, Maayan O, An A, et al. Stereotactic radiosurgery for vestibular schwannomas in neurofibromatosis type 2 patients: a systematic
review and meta-analysis. J Neurooncol. 2022;156:431-41. DOI
32. Puataweepong P, Dhanacha M, Ruangkanchanasetr R, et al. Long-term clinical outcomes of stereotactic radiotherapy for bilateral
vestibular schwannomas in neurofibromatosis type 2 patients. J Neurooncol. 2023;164:587-95. DOI
33. Bin-Alamer O, Faramand A, Alarifi NA, et al. Stereotactic radiosurgery for vestibular schwannoma in neurofibromatosis type 2: an
international multicenter case series of response and malignant transformation risk. Neurosurgery. 2023;92:934-44. DOI
34. Evans DG, Halliday D, Obholzer R, et al.; English Specialist NF2 Research Group. 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. 2023;5:vdad025. DOI PubMed PMC
35. Ferrara N, Hillan KJ, Gerber H-P, Novotny W. Discovery and development of bevacizumab, an anti-VEGF antibody for treating cancer.
Nat Rev Drug Discov. 2004:3,391-400. DOI PubMed
36. Plotkin SR, Stemmer-Rachamimov AO, Barker FG, et al. Hearing improvement after bevacizumab in patients with neurofibromatosis
type 2. N Engl J Med. 2009;361:358-67. DOI PubMed PMC
37. Plotkin SR, Allen J, Dhall G, et al. Multicenter, prospective, phase II study of maintenance bevacizumab for children and adults with
NF2-related schwannomatosis and progressive vestibular schwannoma. Neuro Oncol. 2023;25:1498-506. DOI
38. Farschtschi S, Kollmann P, Dalchow C, Stein A, Mautner VF. Reduced dosage of bevacizumab in treatment of vestibular schwannomas
in patients with neurofibromatosis type 2. Eur Arch Otorhinolaryngol. 2015;272:3857-60. DOI
39. Screnci M, Puechmaille M, Berton Q, Khalil T, Mom T, Coll G. Bevacizumab for Vestibular Schwannomas in Neurofibromatosis Type
2: A Systematic Review of Tumor Control and Hearing Preservation. J Clin Med. 2024;13:7488. DOI PubMed PMC
40. Renzi S, Michaeli O, Salvador H, et al. Bevacizumab for NF2-associated vestibular schwannomas of childhood and adolescence. Pediatr
Blood Cancer. 2020;67:e28228. DOI
41. Webb MJ, Neth BJ, Webb LM, et al. Withdrawal of bevacizumab is associated with rebound growth of vestibular schwannomas in
neurofibromatosis type 2-related schwannomatosis patients. Neuro Oncol Adv. 2023;5:vdad123. DOI PubMed PMC

