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Neurofibromatosis type 2 and related disorders

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Neurocutaneous Disorders Phakomatoses and Hamartoneoplastic Syndromes

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Abstract

Neurofibromatosis 1 (NF1), neurofibromatosis 2 (NF2), and schwannomatosis comprise the neurofibromatoses. NF2 (MIM 101000) is an autosomal dominant neurogenetic disorder characterized by the presence of schwannomas, meningiomas, ependymomas, and ocular abnormalities. For many years, NF2 was confounded with the more common syndrome NF1 from which it derives its name. In the 1980’s, these two disorders were finally differentiated when tumor studies and linkage analysis localized the genes to different chromosomes. The introduction of gadolinium contrast for MRI scanning in June, 1988, significantly improved detection of small tumors, particularly near the skull base. The cloning of the NF2 gene in 1993 ushered in a period of intense research activity in which mutational analysis was used to establish genotype-phenotype correlations and to study the role of NF2 inactivation in NF2-associated tumors. More recently, a consortium of hospitals completed the Natural History of Neurofibromatosis Type 2 Study, which prospectively tracked the growth of tumors in patients with NF2. Looking forward, the primary goal of the research community is to identify an effective treatments for patients with NF2.

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References

  • Aghi M, Kluwe L, Webster MT, Jacoby LB, Barker FG, Ojemann RG, Mautner VF, MacCollin M (2006) Unilateral vestibular schwannoma with other neurofibromatosis Type 2-related tumors: clinical and molecular study of a unique phenotype. J Neurosurg 104: 201–207.

    Article  PubMed  CAS  Google Scholar 

  • Antinheimo J, Sankila R, Carpen O, Pukkala E, Sainio M, Jaaskelainen J (2000) Population-based analysis of sporadic and type 2 neurofibromatosis-associated meningiomas and schwannomas. Neurology 54: 71.

    PubMed  CAS  Google Scholar 

  • Barker FG, Carter BS, Ojemann RG, Jyung RW, Poe DS, McKenna MJ (2003) Surgical excision of acoustic neuroma: patient outcome and provider caseload. Laryngoscope 113:1332–1343.

    Article  PubMed  Google Scholar 

  • Baser ME, Evans DG, Jackler RK, Sujansky E, Rubenstein A (2000) Neurofibromatosis 2, radiosurgery and malignant nervous system tumours. Br J Cancer 82: 998.

    Article  PubMed  CAS  Google Scholar 

  • Baser ME, Friedman JM, Aeschliman D, Joe H, Wallace AJ, Ramsden RT, Evans DG (2002a) Predictors of the risk of mortality in neurofibromatosis 2. Am J Hum Genet 71: 715–723.

    Article  PubMed  Google Scholar 

  • Baser ME, Makariou EV, Parry DM (2002b) Predictors of vestibular schwannoma growth in patients with neurofibromatosis Type 2. J Neurosurg 96: 217–222.

    Article  PubMed  Google Scholar 

  • Baser ME, Kuramoto L, Joe H, Friedman JM, Wallace AJ, Ramsden RT (2003) Genotype-phenotype correlations for cataracts in neurofibromatosis 2. J Med Genet 40: 730–732.

    Article  Google Scholar 

  • Baser ME, Friedman JM, Evans DG (2006) Increasing the specificity of diagnostic criteria for schwonnomatosis. Neurology 66: 730–732.

    Article  PubMed  Google Scholar 

  • Berg JC, Scheithauer BW, Spinner RJ, Allen CM, Koutlas IG (2008) Plexiform schwannoma: a clinicopathologic overview with emphasis on the head and neck region. Hum Pathos 39: 633–640.

    Article  Google Scholar 

  • Bianchi AB, Hara T, Ramesh V, Gao J, Klein-Szanto AJ, Morin F, Menon AG, Trofatter JA, Gusella JF, Seizinger BR, et al. (1994) Mutations in transcript iso-forms of the neurofibromatosis 2 gene in multiple human tumour types. Nat Genet 6:185–192.

    Article  PubMed  CAS  Google Scholar 

  • Bosch MM, Wichmann WW, Boltshanser E, Landan K (2006a) Optic nerve sheath meningiomas in patients with neurofibromatosis type 2. Arch Ophthal Mol 124: 379–385.

    Article  Google Scholar 

  • Bosch MM, Boltshanser E, Harper P, Landan K (2006b) Ophtholmologic findings and long-term course in patients with neurofibromatosis type 2. Am J Ophthalmol 141:1068–1077.

    Article  PubMed  Google Scholar 

  • Bouzas EA, Freidlin V, Parry DM, Eldridge R, Kaiser-Kupfer MI (1993a) Lens opacities in neurofibromatosis 2: further significant correlations. Br J Ophthalmol 77: 354–357.

    Article  PubMed  CAS  Google Scholar 

  • Bouzas EA, Parry DM, Eldridge R, Kaiser-Kupfer MI (1993b) Visual impairment in patients with neurofibromatosis 2. Neurology 43: 622–623.

    PubMed  CAS  Google Scholar 

  • Brackmann DE, Fayad JN, Slattery WH III, Friedman RA, Day JD, Hitselberger WE, Owens RM (2001) Early proactive management of vestibular schwannomas in neurofibromatosis type 2. Neurosurgery 49:274–280.

    Article  PubMed  CAS  Google Scholar 

  • Chamberlain MC, Tsao-Wei DD, Groshen S (2004) Temozolomide for treatment-resistant recurrent meningioma. Neurology 62:1210–1212.

    PubMed  CAS  Google Scholar 

  • Chan CC, Koch CA, Kaiser-Kupfer MI, Parry DM, Gutmann DH, Zhuang Z et al. (2002) Loss of heterozygosity for the NF2 gene in retinal and optic nerve lesions of patients with neurofibromatosis 2. J Pathol 198:14–20.

    Article  PubMed  CAS  Google Scholar 

  • Chang JH, Chang JW, Choi JY, Park YG, Chung SS (2003) Complications after gamma knife radiosurgery for benign meningiomas. J Neurol Neurosurg Psychiatry 74: 226–230.

    Article  PubMed  CAS  Google Scholar 

  • Combs SE, Volk S, Schulz-Ertner D, Huber PE, Thilmann C, Debus J (2005) Management of acoustic neuromas with fractionated stereotactic radiotherapy (FSRT): long-term results in 106 patients treated in a single institution. Int J Radiat Oncol Biol Phys 63: 75–81.

    PubMed  Google Scholar 

  • Crump T (1981) Translation of case reports in Ueber die multplen fibrome der haut und ihre beziehung zu den multiplen neuromen by F.v. Recklinghausen. In: Riccardi VM, Mulvihill JJ (eds.) Neurofibromatosis (von Recklinghausen Disease). New York Raven Press, pp. 259–275.

    Google Scholar 

  • Cushing H (1917) Bilateral tumors and generalized neurofibromatosis. Tumors of the nervus acusticus and the syndrome of the cerebellopontile angle. New York Hafner Publishing Company, pp. 210–216.

    Google Scholar 

  • Davis FG, Freels S, Grutsch J, Barlas S, Brem S (1998) Survival rates in patients with primary malignant brain tumors stratified by patient age and tumor histological type: an analysis based on Surveillance, Epidemiology, and End Results (SEER) data, 1973–1991. J Neurosurg 88:1–10.

    Article  PubMed  CAS  Google Scholar 

  • DiBiase SJ, Kwok Y, Yovino S, Arena C, Naqvi S, Temple R, Régine WF, Amin P, Guo C, Chin LS (2004) Factors predicting local tumor control after gamma knife stereotactic radiosurgery for benign intracranial meningiomas. Int J Radiat Oncol Biol Phys 60:1515–1519.

    PubMed  Google Scholar 

  • Diebold R, Bartelt-Kirbach B, Evans DG, Kaufmann D, Hanemann CO (2005) Sensitive Detection of Deletions of One or More Exons in the Neurofibromatosis Type 2 (NF2) Gene by Multiplexed Gene Dosage Polymerase Chain Reaction. J Mol Diagn 7: 97–104.

    PubMed  CAS  Google Scholar 

  • Doyle KJ, Shelton C (1993) Hearing preservation in bilateral acoustic neuroma surgery. Am J Otol 14: 562–565.

    PubMed  CAS  Google Scholar 

  • Evans DG, Huson SM, Donnai D, Neary W, Blair V, Newton V, Harris R (1992) A clinical study of type 2 neurofibromatosis. QJ Med 84: 603–618.

    CAS  Google Scholar 

  • Evans DG, Trueman L, Wallace A, Collins S, Strachan T (1998a) Genotype/phenotype correlations in type 2 neurofibromatosis (NF2): evidence for more severe disease associated with truncating mutations. J Med Genet 35: 450–455

    Article  PubMed  CAS  Google Scholar 

  • Evans DG, Wallace AJ, Wu CL, Trueman L, Ramsden RT, Strachan T (1998b) Somatic mosaicism: a common cause of classic disease in tumor-prone syndromes? tation of type 2 neurofibromatosis. Am J Hum Genet 63: 727–736.

    PubMed  CAS  Google Scholar 

  • Evans DG, Birch JM, Ramsden RT (1999a) Paediatric presentation of type 2 neurofibromatosis. Arch Dis Child 81: 496–499.

    Article  PubMed  CAS  Google Scholar 

  • Evans DG, Lye R, Neary W, Black G, Strachan T, Wallace A, Ramsden RT (1999b) Probability of bilateral disease in people presenting with a unilateral vestibular schwannoma. J Neurol Neurosurg Psychiatry 66: 764–767.

    Article  PubMed  CAS  Google Scholar 

  • Evans DG, Moran A, King A, Saeed S, Gurusinghe N, Ramsden R (2005) 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 26: 93–97.

    Article  PubMed  Google Scholar 

  • Flickinger JC, Kondziolka D, Maitz AH, Lunsford LD (2003) Gamma knife radiosurgery of imaging-diagnosed intracranial meningioma. Int J Radiat Oncol Biol Phys 56: 801–806.

    PubMed  Google Scholar 

  • Friedman JM, Gutmann DH, MacCollin M, Riccardi VM (1999) Neurofibromatosis. Phenotype, Natural History, and Pathogensis, 3rd ed. Baltimore: Johns Hopkins University Press.

    Google Scholar 

  • Fuss M, Debus J, Lohr F, Huber P, Rhein B, Engenhart-Cabillic R, Wannenmacher M (2000) Conventionally fractionated stereotactic radiotherapy (FSRT) for acoustic neuromas. Int J Radiat Oncol Biol Phys 48: 1381–1387.

    Article  PubMed  CAS  Google Scholar 

  • Gardner WJ, Frazier CH (1930) Bilateral acoustic neurofibromas. Arch Neurol Psychiat 23: 266–302.

    Google Scholar 

  • Gutmann DH, Aylsworth A, Carey JC, Korf B, Marks J, Pyeritz RE, Rubenstein A, Viskochil D (1997) The diagnostic evaluation and multidisciplinary management of neurofibromatosis 1 and neurofibromatosis 2. JAMA 278: 51–57.

    Article  PubMed  CAS  Google Scholar 

  • Hadfield KD, Newman WG, Bowers NL, Wallace A, Bolger CM, Colley A, McCann E, Trump D, Prescott T, Evans G (2008) Molecular characterisation of SMARCB1 and NF2 in familial and sporadic schwannomatosis. J Med Genet Feb 29 [Epub ahead of print].

    Google Scholar 

  • Heinrich B, Hartmann C, Stemmer-Rachamimov AO, Louis DN, MacCollin M(2003) Multiple meningiomas: investigating the molecular basis of sporadic and familial forms. Int J Cancer 103: 483–488.

    Article  PubMed  CAS  Google Scholar 

  • Hulsebos TJ, Plomp AS, Wolterman RA, Robanus-Maandag EO, Baas F, Wesseling P (2007) Germline mutations of INI1/SMARCB1 in farmilial schwannomatosis. Am J Hum Genet 80: 805–810.

    Article  PubMed  CAS  Google Scholar 

  • Jacoby LB, MacCollin M, Barone R, Ramesh V, Gusella JF (1996) Frequency and distribution of NF2 mutations in schwannomas. Genes Chromosomes Cancer 17: 45–55.

    Article  PubMed  CAS  Google Scholar 

  • Jacoby LB, Jones D, Davis K, Kronn D, Short MP, Gusella J et al. (1997) Molecular analysis of the NF2 tumor-suppressor gene in schwannomatosis. Am J Hum Genet 61:1293–1302.

    Article  PubMed  CAS  Google Scholar 

  • Kaiser-Kupfer MI, Freidlin V, Datiles MB, Edwards PA, Sherman JL, Parry D, McCain LM, Eldridge R (1989) The association of posterior capsular lens opacities with bilateral acoustic neuromas in patients with neurofibromatosis type 2. Arch Ophthalmol 107: 541–544.

    PubMed  CAS  Google Scholar 

  • Kluwe L, Bayer S, Baser ME, Hazim W, Haase W, Funsterer L, Mautner VF (1996a) Identification of NF2 germline mutations and comparison with neurofibromatosis 2 phenotypes. Hum Genet 98: 534–538.

    Article  PubMed  CAS  Google Scholar 

  • Kluwe L, Mautner VF (1996b) A missense mutation in the NF2 gene results in moderate and mild clinical phenotypes of neurofibromatosis type 2. Hum Genet 97: 2051–2055.

    Article  Google Scholar 

  • Kluwe L, Mautner VF (1998) Mosaicism in sporadic neurofibromatosis 2 patients. Human Molecular Genetics 7: 2051–2055.

    Article  PubMed  CAS  Google Scholar 

  • Kluwe L, Friedrich RE, Tatagiba M, Mautner VF (2002) Presymptomatic diagnosis for children of sporadic neurofibromatosis 2 patients: a method based on tumor analysis. Genet Med 4: 27–30.

    Article  PubMed  Google Scholar 

  • Kluwe L, Mautner V, Heinrich B, Dezube R, Jacoby LB, Friedrich RE, MacCollin M (2003) Molecular study of frequency of mosaicism in neurofibromatosis 2 patients with bilateral vestibular schwannomas. J Med Genet 40:109–114.

    Article  PubMed  CAS  Google Scholar 

  • Kluwe L, Nygren AO, Errami A, Heinrich B, Matthies C, Tatagiba M et al. (2005) Screening for large mutations of the NF2 gene. Genes Chromosomes Cancer 42: 384–391.

    Article  PubMed  CAS  Google Scholar 

  • Lee DK, Abbott ML (1969) Familial central nervous system neoplasia. Case report of a family with von Reckling-hausen’s neurofibromatosis. Arch Neurol 20:154–160.

    PubMed  CAS  Google Scholar 

  • Lee M, Rezai AR, Freed D, Epstein FJ (1996) Intramedullary spinal cord tumors in neurofibromatosis. Neurosurgery 38: 32–37.

    Article  PubMed  CAS  Google Scholar 

  • Linskey ME, Lunsford LD, Flickinger JC (1992) Tumor control after stereotactic radiosurgery in neurofibromatosis patients with bilateral acoustic tumors. Neurosurgery 31: 829–838.

    Article  PubMed  CAS  Google Scholar 

  • Liu R, Fagan P (2001) Facial nerve schwannoma: surgical excision versus conservative management. Ann Otol Rhinol Laryngol 110:1025–1029.

    PubMed  CAS  Google Scholar 

  • LoRusso P, Foster BJ, Poplin E, McCormick J, Kraut M, Flaherty L, Heilbrun LK, Valdivieso M, Baker L (1995) Phase I clinical trial of pyrazoloacridine NSC366140 (PD115934). Clin Cancer Res 1:1487–1493.

    PubMed  CAS  Google Scholar 

  • Loven D, Hardoff R, Sever ZB, Steinmetz AP, Gornish M, Rappaport ZH, Fenig E, Ram Z, Sulkes A (2004) Non-resectable slow-growing meningiomas treated by hydroxyurea. J Neurooncol 67: 221–226.

    Article  PubMed  Google Scholar 

  • MacCollin M, Ramesh V, Jacoby LB, Louis DN, Rubio MP, Pulaski K, Trofatter JA, Short MP, Bove C, Eldridge R, et al. (1994) Mutational analysis of patients with neurofibromatosis 2. Am J Hum Genet 55: 314–320.

    PubMed  CAS  Google Scholar 

  • MacCollin M, Willett C, Heinrich B, Jacoby LB, Acierno JS Jr, Perry A, Louis DN (2003) Familial schwannomatosis: exclusion of the NF2 locus as the germline event. Neurology 60:1968–1974.

    PubMed  CAS  Google Scholar 

  • MacCollin M, Chiocca EA, Evans DG, Friedman JM, Horvitz R, Jaramillo D, Lev M, Mautner VF, Niimura M, Plotkin SR, Sang CN, Stemmer-Rachamimov A, Roach ES (2005) Diagnostic criteria for schwannomatosis. Neurology 64: 1838–1845.

    Article  PubMed  CAS  Google Scholar 

  • Mautner VF, Tatagiba M, Guthoff R, Samii C, Pulst SM (1993) Neurofibromatosis 2 in the pediatrie age group. Neurosurgery 33: 92–96.

    Article  PubMed  CAS  Google Scholar 

  • Mautner VF, Tatagiba M, Lindenau M, Funsterer C, Pulst SM, Baser ME, Kluwe L, Zanella FE (1995) Spinal tumors in patients with neurofibromatosis type 2: MR imaging study of frequency, multiplicity, and variety. Am J Roentgenol 165: 951–955.

    CAS  Google Scholar 

  • Mautner VF, Lindenau M, Baser ME, Hazim W, Tatagiba M, Haase W, Samii M, Wais R, Pulst SM (1996) The neuroimaging and clinical spectrum of neurofibromatosis 2. Neurosurgery 38: 880–885.

    Article  PubMed  CAS  Google Scholar 

  • Mautner VF, Lindenau M, Baser ME, Kluwe L, Gottschalk J (1997) Skin abnormalities in neurofibromatosis 2. Arch Dermatol 133:1539–1543.

    Article  PubMed  CAS  Google Scholar 

  • Mautner VF, Baser ME, Thakkar SD, Feigen UM, Friedman JM, Kluwe L (2002) Vestibular schwannoma growth in patients with neurofibromatosis Type 2: a longitudinal study. J Neurosurg 96: 223–228.

    Article  PubMed  Google Scholar 

  • McClatchey AI, Giovannini M (2005) Membrane organization and tumorigenesis-the NF2 tumor suppressor, Merlin. Genes Dev 19: 2265–2277.

    Article  PubMed  CAS  Google Scholar 

  • Messerli SM, Prabhakar S, Tang Y, Mahmood U, Giovannini M, Weissleder R, Bronson R, Martuza R, Rabkin S, Breakefield XO (2005) Treatment of Schwannomas with an Oncolytic Recombinant Herpes Simplex Virus in Murine Models of Neurofibromatosis Type 2. Hum Gene Ther.

    Google Scholar 

  • Meyers SM, Gutman FA, Kaye LD, Rothner AD (1995) Retinal changes associated with neurofibromatosis 2. Trans Am Ophthalmol Soc 93: 245–252.

    PubMed  CAS  Google Scholar 

  • Mulvihill JJ, Parry DM, Sherman JL, Pikus A, Kaiser-Kupfer MI, Eldridge R (1990) NIH conference. Neurofibromatosis 1 (Recklinghausen disease) and neurofibromatosis 2 (bilateral acoustic neurofibromatosis). An update. Ann Intern Med 113: 39–52.

    CAS  Google Scholar 

  • National Institutes of Health Consensus Development Conference (1988) Neurofibromatosis. Conference statement. Arch Neurol 45: 575–578.

    Google Scholar 

  • Ng J, Mordekar SR, Connolly DJ, Baxter P (2008) Stroke in a child with neurofibromatosis type 2. Eur J Paediatr Neurol Apr 10 [Epub ahead of print].

    Google Scholar 

  • Nunes F, MacCollin M (2003) Neurofibromatosis 2 in the pediatric population. J Child Neurol 18: 718–724.

    Article  PubMed  Google Scholar 

  • Otsuka G, Saito K, Nagatani T, Yoshida J (2003) Age at symptom onset and long-term survival in patients with neurofibromatosis type 2. J Neurosurg 99: 480–483.

    Article  PubMed  Google Scholar 

  • Otto SR, Brackmann DE, Hitselberger WE, Shannon RV, Kuchta J (2002) Multichannel auditory brainstem implant: update on performance in 61 patients. J Neurosurg 96:1063–1071.

    Article  PubMed  Google Scholar 

  • Parry DM, Eldridge R, Kaiser-Kupfer MI, Bouzas EA, Pikus A, Patronas N (1994) Neurofibromatosis 2 (NF2): clinical characteristics of 63 affected individuals and clinical evidence for heterogeneity. Am J Med Genet 52: 450–461.

    Article  PubMed  CAS  Google Scholar 

  • Parry DM, MacCollin MM, Kaiser-Kupfer MI, Pulaski K, Nicholson HS, Bolesta M, Eldridge R, Gusella JF (1996) Germ-line mutations in the neurofibromatosis 2 gene: correlations with disease severity and retinal abnormalities. Am J Hum Genet 59: 529–539.

    PubMed  CAS  Google Scholar 

  • Patronas NJ, Courcoutsakis N, Bromley CM, Katzman GL, MacCollin M, Parry DM (2001) Intramedullary and spinal canal tumors in patients with neurofibromatosis 2: MR imaging findings and correlation with genotype. Radiology 218: 434–442.

    PubMed  CAS  Google Scholar 

  • Ragge NK, Baser ME, Klein J, Nechiporuk A, Sainz J, Pulst SM, Riccardi VM (1995) Ocular abnormalities in neurofibromatosis 2. Am J Ophthalmol 120: 634–641.

    PubMed  CAS  Google Scholar 

  • Rouleau GA, Wertelecki W, Haines JL, Hobbs WJ, Trofatter JA, Seizinger BR, Martuza RL, Superneau DW, Conneally PM, Gusella JF (1987) Genetic linkage of bilateral acoustic neurofibromatosis to a DNA marker on chromosome 22. Nature 329: 246–248.

    Article  PubMed  CAS  Google Scholar 

  • Rouleau GA, Merel P, Lutchman M, Sanson M, Zucman J, Marineau C, Hoang-Xuan K, Demczuk S, Desmaze C, Plougastel B, et al. (1993) Alteration in a new gene encoding a putative membrane-organizing protein causes neuro-fibromatosis type 2. Nature 363: 515–521.

    Article  PubMed  CAS  Google Scholar 

  • Rowe JG, Radatz MW, Walton L, Soanes T, Rodgers J, Kemeny AA (2003) Clinical experience with gamma knife stereotactic radiosurgery in the management of vestibular schwannomas secondary to type 2 neurofibromatosis. J Neurol Neurosurg Psychiatry 74: 1433–1443.

    Google Scholar 

  • Ruggieri M, Huson SM (2001) The clinical and diagnostic implications of mosaicism in the neurofibromatosis. Neurology 56:1433–1443.

    PubMed  CAS  Google Scholar 

  • Ruggieri M, Iannetti P, Polizzi A, La MI, Spalice A, Giliberto O, Platania N, Gabriele AL, Albanese V, Pavone L (2005) Earliest clinical manifestations and natural history of neurofibromatosis type 2 (NF2) in childhood: a study of 24 patients. Neuropediatrics 36: 21–34.

    Article  PubMed  CAS  Google Scholar 

  • Ruttledge MH, Andermann AA, Phelan CM, Claudio JO, Han FY, Chretien N, Rangaratnam S, MacCollin M, Short P, Parry D, Michels V, Riccardi VM, Weksberg R, Kitamura K, Bradburn JM, Hall BD, Propping P, Rouleau GA (1996) Type of mutation in the neurofibromatosis type 2 gene (NF2) frequently determines severity of disease. Am J Hum Genet 59: 331–342.

    PubMed  CAS  Google Scholar 

  • Schrell UM, Rittig MG, Anders M, Koch UH, Marschalek R, Kiesewetter F, Fahlbusch R (1997) Hydroxyurea for treatment of unresectable and recurrent meningiomas. II. Decrease in the size of meningiomas in patients treated with hydroxyurea. J Neurosurg 86: 644–647.

    Google Scholar 

  • Seizinger BR, Martuza RL, Gusella JF (1986) Loss of genes on chromosome 22 in tumorigenesis of human acoustic neuroma. Nature 322: 644–647.

    Article  PubMed  CAS  Google Scholar 

  • Sestini R, Bacci C, Provenzano A, Genuardi M, Papi L (2008) Evidence of a four-hit mechanism involving SMARCB1 and NF2 in schwannomatosis-associated schwannomas. Hum Mutat 29: 227–231.

    Article  PubMed  CAS  Google Scholar 

  • Short PM, Martuza RL, Huson SM (1994) Neurofibromatosis 2: clinical features, genetic counselling and management issues. In: Huson SM, Hughes RAC (eds.) The neurofibromatosis a pathogenetic and clinical overview. London: Chapman and Hall medical, pp. 414–444.

    Google Scholar 

  • Slattery WH III, Brackmann DE (1995) Results of surgery following stereotactic irradiation for acoustic neuromas. AmJOtol 18: 596–601.

    Google Scholar 

  • Slattery WH III, Brackmann DE, Hitselberger W (1998) Middle fossa approach for hearing preservation with acoustic neuromas. Am J Otol 18: 596–601.

    Google Scholar 

  • Slattery WH III, Brackmann DE, Hitselberger W (1998) Hearing preservation in neurofibromatosis type 2. Am J Otol 19: 638–643.

    PubMed  Google Scholar 

  • Sobel RA (1993) Vestibular (acoustic) schwannomas: histologic features in neurofibromatosis 2 and in unilateral cases. J Neuropathol Exp Neurol 52: 106–113.

    Article  PubMed  CAS  Google Scholar 

  • Sperfeld AD, Hein C, Schroder JM, Ludolph AC, Hanemann CO (2002) Occurrence and characterization of peripheral nerve involvement in neurofibromatosis type 2. Brain 125: 996–1004.

    Article  PubMed  CAS  Google Scholar 

  • Stangl AP, Wellenreuther R, Lenartz D, Kraus JA, Menon AG, Schramm J, Wiestier OD, von Deimling A (1997) Clonality of multiple meningiomas. J Neurosurg 86: 853–858.

    Article  PubMed  CAS  Google Scholar 

  • Stemmer-Rachamimov AO, Ino Y, Lim ZY, Jacoby LB, MacCollin M, Gusella JF, Ramesh V, Louis DN (1998) Loss of the NF2 gene and merlin occur by the tumorlet stage of schwannoma development in neurofibromatosis 2. J Neuropathol Exp Neurol 57:1164–1167.

    Article  PubMed  CAS  Google Scholar 

  • Subach BR, Kondziolka D, Lunsford LD, Bissonette DJ, Flickinger JC, Maitz AH (1999) Stereotactic radiosurgery in the management of acoustic neuromas associated with neurofibromatosis Type 2. J Neurosurg 90: 815–822.

    Article  PubMed  CAS  Google Scholar 

  • Thomsen J, Mirz F, Wetke R, Astrup J, Bojsen-Moller M, Nielsen E (2000) Intracranial sarcoma in a patient with neurofibromatosis type 2 treated with gamma knife radiosurgery for vestibular schwannoma. Am J Otol 21: 364–370.

    Article  PubMed  CAS  Google Scholar 

  • Trivedi R, Byrne J, Huson SM, Donaghy M (2000) Focal amyotrophy in neurofibromatosis 2. J Neurol Neurosurg Psychiatry 69: 257–261.

    Article  PubMed  CAS  Google Scholar 

  • Trofatter JA, MacCollin MM, Rutter JL, Murreil JR, Duyao MP, Parry DM, Eldridge R, Kley N, Menon AG, Pulaski K, et al. (1993) A novel moesin-, ezrin-, radixin-like gene is a candidate for the neurofibromatosis 2 tumor suppressor. Cell 75: 826.

    Article  PubMed  CAS  Google Scholar 

  • Vincenti V, Pasanisi E, Guida M, Di Trapani G, Sanna M (2008) Hearing rehabilitation in neurofibromatosis type 2 patients: Cochlear versus auditory brainstem implantation. Audiol Neurootol 13: 273–280.

    Article  PubMed  Google Scholar 

  • Wertelecki W, Rouleau GA, Superneau DW, Forehand LW, Williams JP, Haines JL, Gusella JF (1988) Neurofibromatosis 2: clinical and DNA linkage studies of a large kindred. N Engl J Med 319: 278–283.

    PubMed  CAS  Google Scholar 

  • Wishart JH (1822) Case of tumours in the skull, duraq mater, and brain. Edinburgh Med Surg J 18: 393–397.

    Google Scholar 

  • Young DF, Eldridge R, Gardner WJ (1970) Bilateral acoustic neuroma in a large kindred. JAMA 214: 347–353.

    Article  PubMed  CAS  Google Scholar 

  • Zhao Y, Kumar RA, Baser ME, Evans DG, Wallace A, Kluwe L, Mautner VF, Parry DM, Rouleau GA, Joe H, Friedman JM (2002) Intrafamilial correlation of clinical manifestations in neurofibromatosis 2 (NF2). Genet Epidemiol 23: 245–259.

    Article  PubMed  CAS  Google Scholar 

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  1. Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, USA

    Scott Randall Plotkin

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  1. Institute of Neurological Science, National Research Council, Catania, Italy

    Martino Ruggieri

  2. University Hospital La Paz, Madrid, Spain

    Ignacio Pascual-Castroviejo

  3. Institute of Neurosurgery, Catholic University of the Sacred Heart, Rome, Italy

    Concezio Di Rocco

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Plotkin, S.R. (2008). Neurofibromatosis type 2 and related disorders. In: Ruggieri, M., Pascual-Castroviejo, I., Di Rocco, C. (eds) Neurocutaneous Disorders Phakomatoses and Hamartoneoplastic Syndromes. Springer, Vienna. https://doi.org/10.1007/978-3-211-69500-5_4

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  • DOI: https://doi.org/10.1007/978-3-211-69500-5_4

  • Publisher Name: Springer, Vienna

  • Print ISBN: 978-3-211-21396-4

  • Online ISBN: 978-3-211-69500-5

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