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Neurofibromatosis Type 2 and Other Bilateral Cerebellopontine Angle Tumors

  • Madjid Samii
  • Venelin Gerganov
Chapter

Abstract

Neurofibromatosis type 2 is a dominantly inherited tumor predisposition syndrome characterized by a tendency for developing bilateral VSs and other CNS tumors (meningiomas, ependymomas, astrocytomas, or other schwannomas). Typically the syndrome manifests itself during young adulthood—in the second or third decade of life. The severity of the disease ranges from mild to aggressive in regard to age of onset, tumor types, and biological aggressiveness. The treatment of patients with bilateral VSs is different from that of patients with sporadic unilateral VSs. The lifelong tendency to formation of new CNS tumors predetermines the impossibility of definitive cure of NF-2 patients. Therefore, management is focused on life prolongation, preservation or rehabilitation of cranial nerve function, and maintenance of quality of life. The treatment should be individualized and performed in a specialized treatment center in close collaboration with the patient and his family. The patient’s clinical presentation, attitude, and expectations, as well as the tumor characteristics, should guide the decision-making process. The tumor size and the function of the cochlear nerves on both sides are issues of paramount importance. Other bilateral CP angle lesions have been rarely reported: choroid plexus papillomas, endolymphatic sac tumors, primary central nervous system lymphoma, arachnoid cysts, osteomas, or metastases.

Keywords

Facial Nerve Cochlear Implant Inferior Colliculus Primary Central Nervous System Lymphoma Cochlear Nucleus 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

References

  1. 1.
    Baldwin D, King TT, Chevretton E, Morrison AW (1991) Bilateral cerebellopontine angle tumors in neurofibromatosis type 2. J Neurosurg 74(6):910–915. doi: 10.3171/jns.1991.74.6.0910 PubMedCrossRefGoogle Scholar
  2. 2.
    Baser ME, Evans DGR, Gutmann DH (2003) Neuro­fibromatosis 2. Curr Opin Neurol 16(1):27–33. doi: 10.1097/01.wco.0000053583.70044.ab PubMedCrossRefGoogle Scholar
  3. 3.
    Baser ME, Friedman JM, Joe H, Shenton A, Wallace AJ, Ramsden RT, Evans DG (2011) Empirical development of improved diagnostic criteria for neurofibromatosis 2. Genet Med 13(6):576–581. doi: 10.1097/GIM.0b013e318211faa9 PubMedCrossRefGoogle Scholar
  4. 4.
    Baser ME, Makariou EV, Parry DM (2002) Predictors of vestibular schwannoma growth in patients with neurofibromatosis type 2. J Neurosurg 96(2):217–222. doi: 10.3171/jns.2002.96.2.0217 PubMedCrossRefGoogle Scholar
  5. 5.
    Bono P, Bartoloni Saint Omer F (1994) A rare case of bilateral metastasis in the cerebellopontine angle. Pathologica 86(3):324–328PubMedGoogle Scholar
  6. 6.
    Brackmann DE, Fayad JN, Slattery WH 3rd, Friedman RA, Day JD, Hitselberger WE, Owens RM (2001) Early proactive management of vestibular schwannomas in neurofibromatosis type 2. Neuro­surgery 49(2):274–280; discussion 280–283PubMedGoogle Scholar
  7. 7.
    Brackmann DE, Hitselberger WE, Nelson RA, Moore J, Waring MD, Portillo F, Shannon RV, Telischi FF (1993) Auditory brainstem implant: I. Issues in surgical implantation. Otolaryngol Head Neck Surg 108(6):624–633PubMedGoogle Scholar
  8. 8.
    Casar Borota O, Jacobsen EA, Scheie D (2006) Bilateral atypical choroid plexus papillomas in cerebellopontine angles mimicking neurofibromatosis 2. Acta Neuropathol 111(5):500–502. doi: 10.1007/s00401-006-0067-7 PubMedCrossRefGoogle Scholar
  9. 9.
    Colletti V, Shannon RV, Carner M, Veronese S, Colletti L (2009) Progress in restoration of hearing with the auditory brainstem implant. Prog Brain Res 175:333–345. doi: 10.1016/S0079-6123(09)17523-4, S0079-6123(09)17523-4 [pii]PubMedCrossRefGoogle Scholar
  10. 10.
    Delerue O, Destee A, Devos P (1991) Bilateral ­metastases in the cerebellopontine angle. J Neurol Neurosurg Psychiatry 54(6):562–563PubMedCrossRefGoogle Scholar
  11. 11.
    Ebinger K, Otto S, Arcaroli J, Staller S, Arndt P (2000) Multichannel auditory brainstem implant: US clinical trial results. J Laryngol Otol Suppl 27:50–53PubMedGoogle Scholar
  12. 12.
    Evans DG (2009) Neurofibromatosis 2 [Bilateral acoustic neurofibromatosis, central neurofibromatosis, NF2, neurofibromatosis type II]. Genet Med 11(9):599–610. doi: 10.1097/GIM.0b013e3181ac9a27 PubMedCrossRefGoogle Scholar
  13. 13.
    Evans DG (2009) Neurofibromatosis type 2 (NF2): a clinical and molecular review. Orphanet J Rare Dis 4:16. doi: 10.1186/1750-1172-4-16, 1750-1172-4-16 [pii]PubMedCrossRefGoogle Scholar
  14. 14.
    Evans DG, Baser ME, O’Reilly B, Rowe J, Gleeson M, Saeed S, King A, Huson SM, Kerr R, Thomas N, Irving R, MacFarlane R, Ferner R, McLeod R, Moffat D, Ramsden R (2005) Management of the patient and family with neurofibromatosis 2: a consensus ­conference statement. Br J Neurosurg 19(1):5–12. doi: 10.1080/02688690500081206, M877P25502X236M6 [pii]PubMedCrossRefGoogle Scholar
  15. 15.
    Evans DG, Huson SM, Donnai D, Neary W, Blair V, Newton V, Harris R (1992) A clinical study of type 2 neurofibromatosis. Q J Med 84(304):603–618PubMedGoogle Scholar
  16. 16.
    Evans DG, Huson SM, Donnai D, Neary W, Blair V, Teare D, Newton V, Strachan T, Ramsden R, Harris R (1992) A genetic study of type 2 neurofibromatosis in the United Kingdom. I. Prevalence, mutation rate, fitness, and confirmation of maternal transmission effect on severity. J Med Genet 29(12):841–846PubMedCrossRefGoogle Scholar
  17. 17.
    Evans DG, Ramsden RT, Gokhale C, Bowers N, Huson SM, Wallace A (2007) Should NF2 mutation screening be undertaken in patients with an apparently isolated vestibular schwannoma? Clin Genet 71(4):354–358. doi: 10.1111/j.1399-0004.2007.00778.x, CGE778 [pii]PubMedCrossRefGoogle Scholar
  18. 18.
    Evans DG, Sainio M, Baser ME (2000) Neuro­fibromatosis type 2. J Med Genet 37(12):897–904PubMedCrossRefGoogle Scholar
  19. 19.
    Fayad JN, Otto SR, Brackmann DE (2006) Auditory brainstem implants: surgical aspects. Adv Otorhino­laryngol 64:144–153. doi: 10.1159/000094649, 94649 [pii]PubMedGoogle Scholar
  20. 20.
    Friedland DR, Wackym PA (1999) Evaluation of surgical approaches to endoscopic auditory brainstem implantation. Laryngoscope 109(2 Pt 1):175–180PubMedCrossRefGoogle Scholar
  21. 21.
    Gerganov VM, Samii A, Paterno V, Stan AC, Samii M (2008) Bilateral osteomas arising from the internal auditory canal: case report. Neurosurgery 62(2):E528–E529PubMedCrossRefGoogle Scholar
  22. 22.
    Gijtenbeek JM, Gabreels-Festen AA, Lammens M, Zwarts MJ, van Engelen BG (2001) Mononeuropathy multiplex as the initial manifestation of neurofibromatosis type 2. Neurology 56(12):1766–1768PubMedCrossRefGoogle Scholar
  23. 23.
    Grayeli AB, Bouccara D, Kalamarides M, Ambert-Dahan E, Coudert C, Cyna-Gorse F, Sollmann WP, Rey A, Sterkers O (2003) Auditory brainstem implant in bilateral and completely ossified cochleae. Otol Neurotol 24(1):79–82PubMedCrossRefGoogle Scholar
  24. 24.
    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(1):51–57PubMedCrossRefGoogle Scholar
  25. 25.
    Hanemann CO, Evans DG (2006) News on the genetics, epidemiology, medical care and translational research of Schwannomas. J Neurol 253(12):1533–1541. doi: 10.1007/s00415-006-0347-0 PubMedCrossRefGoogle Scholar
  26. 26.
    Jackson KB, Mark G, Helms J, Mueller J, Behr R (2002) An auditory brainstem implant system. Am J Audiol 11(2):128–133PubMedCrossRefGoogle Scholar
  27. 27.
    Jaiswal AK, Chandra PS (2001) Cerebellopontine angle meningioma with acquired chiari and syringomyelia: neuroimage. Neurol India 49(3):323PubMedGoogle Scholar
  28. 28.
    Kanter WR, Eldridge R, Fabricant R, Allen JC, Koerber T (1980) Central neurofibromatosis with bilateral acoustic neuroma: genetic, clinical and biochemical distinctions from peripheral neurofibromatosis. Neurology 30(8):851–859PubMedCrossRefGoogle Scholar
  29. 29.
    Kempermann G, Neumann HP, Scheremet R, Volk B, Mann W, Gilsbach J, Laszig R (1996) Deafness due to bilateral endolymphatic sac tumours in a case of von Hippel-Lindau syndrome. J Neurol Neurosurg Psychiatry 61(3):318–320PubMedCrossRefGoogle Scholar
  30. 30.
    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(2):109–114PubMedCrossRefGoogle Scholar
  31. 31.
    Kuchta J, Otto SR, Shannon RV, Hitselberger WE, Brackmann DE (2004) The multichannel auditory brainstem implant: how many electrodes make sense? J Neurosurg 100(1):16–23. doi: 10.3171/jns.2004.100.1.0016 PubMedCrossRefGoogle Scholar
  32. 32.
    Lee MJ, Stephenson DA (2007) Recent developments in neurofibromatosis type 1. Curr Opin Neurol 20(2):135–141. doi: 10.1097/WCO.0b013e3280895da8, 00019052-200704000-00004 [pii]PubMedCrossRefGoogle Scholar
  33. 33.
    Lee WT, Weber PC (2005) Melanoma metastasis masquerading as bilateral acoustic neuromas. Otolaryngol Head Neck Surg 132(3):505–506. doi: 10.1016/j.otohns.2004.05.004, S0194599804005546 [pii]PubMedCrossRefGoogle Scholar
  34. 34.
    Lenarz M, Lim HH, Lenarz T, Reich U, Marquardt N, Klingberg MN, Paasche G, Reuter G, Stan AC (2007) Auditory midbrain implant: histomorphologic effects of long-term implantation and electric stimulation of a new deep brain stimulation array. Otol Neurotol 28(8):1045–1052. doi: 10.1097/MAO.0b013e318159e74f, 00129492-200712000-00013 [pii]PubMedCrossRefGoogle Scholar
  35. 35.
    Lenarz M, Matthies C, Lesinski-Schiedat A, Frohne C, Rost U, Illg A, Battmer RD, Samii M, Lenarz T (2002) Auditory brainstem implant part II: subjective assessment of functional outcome. Otol Neurotol 23(5):694–697PubMedCrossRefGoogle Scholar
  36. 36.
    Lenarz T, Moshrefi M, Matthies C, Frohne C, Lesinski-Schiedat A, Illg A, Rost U, Battmer RD, Samii M (2001) Auditory brainstem implant: part I. Auditory performance and its evolution over time. Otol Neurotol 22(6):823–833PubMedCrossRefGoogle Scholar
  37. 37.
    Lim HH, Lenarz M, Lenarz T (2009) Auditory ­midbrain implant: a review. Trends Amplif 13(3):149–180. doi: 10.1177/1084713809348372, 13/3/149 [pii]PubMedCrossRefGoogle Scholar
  38. 38.
    Lim HH, Lenarz T, Joseph G, Battmer RD, Samii A, Samii M, Patrick JF, Lenarz M (2007) Electrical stimulation of the midbrain for hearing restoration: insight into the functional organization of the human central auditory system. J Neurosci 27(49):13541–13551. doi: 10.1523/JNEUROSCI.3123-07.2007, 27/49/13541 [pii]PubMedCrossRefGoogle Scholar
  39. 39.
    MacCollin M, Woodfin W, Kronn D, Short MP (1996) Schwannomatosis: a clinical and pathologic study. Neurology 46(4):1072–1079PubMedCrossRefGoogle Scholar
  40. 40.
    Maini S, Cohen MA, Hollow R, Briggs R (2009) Update on long-term results with auditory brainstem implants in NF2 patients. Cochlear Implants Int 10(Suppl 1):33–37. doi: 10.1002/cii.383 PubMedCrossRefGoogle Scholar
  41. 41.
    Mathieu D, Kondziolka D, Flickinger JC, Niranjan A, Williamson R, Martin JJ, Lunsford LD (2007) Stereotactic radiosurgery for vestibular schwannomas in patients with neurofibromatosis type 2: an analysis of tumor control, complications, and hearing preservation rates. Neurosurgery 60(3):460–468. doi: 10.1227/01.NEU.0000255340.26027.53; discussion 468–470. 00006123-200703000-00005 [pii]PubMedGoogle Scholar
  42. 42.
    Mautner VF (1996) Spinal tumors in patients with neurofibromatosis type 2: MR imaging study of frequency, multiplicity and variety. AJR Am J Roentgenol 166(5):1231PubMedCrossRefGoogle Scholar
  43. 43.
    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(2):223–228. doi: 10.3171/jns.2002.96.2.0223 PubMedCrossRefGoogle Scholar
  44. 44.
    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(5):880–885; discussion 885–886PubMedCrossRefGoogle Scholar
  45. 45.
    Mautner VF, Tatagiba M, Guthoff R, Samii M, Pulst SM (1993) Neurofibromatosis 2 in the pediatric age group. Neurosurgery 33(1):92–96PubMedCrossRefGoogle Scholar
  46. 46.
    Moffat DA, Quaranta N, Baguley DM, Hardy DG, Chang P (2003) Management strategies in neurofibromatosis type 2. Eur Arch Otorhinolaryngol 260(1):12–18. doi: 10.1007/s00405-002-0503-9 PubMedGoogle Scholar
  47. 47.
    Mohyuddin A, Neary WJ, Wallace A, Wu CL, Purcell S, Reid H, Ramsden RT, Read A, Black G, Evans DG (2002) Molecular genetic analysis of the NF2 gene in young patients with unilateral vestibular schwannomas. J Med Genet 39(5):315–322PubMedCrossRefGoogle Scholar
  48. 48.
    Moore JK, Osen KK (1979) The cochlear nuclei in man. Am J Anat 154(3):393–418. doi: 10.1002/aja.1001540306 PubMedCrossRefGoogle Scholar
  49. 49.
    (1994) National Institutes of Health Consensus Development Conference Statement on Acoustic Neuroma, December 11–13, 1991. The Consensus Development Panel. Arch Neurol 51(2):201–207Google Scholar
  50. 50.
    Neff BA, Welling DB (2005) Current concepts in the evaluation and treatment of neurofibromatosis type II. Otolaryngol Clin North Am 38(4):671–684. doi: 10.1016/j.otc.2005.01.002, ix. S0030-6665(05)00003-4 [pii]PubMedCrossRefGoogle Scholar
  51. 51.
    Neff BA, Welling DB, Akhmametyeva E, Chang LS (2006) The molecular biology of vestibular schwannomas: dissecting the pathogenic process at the molecular level. Otol Neurotol 27(2):197–208. doi: 10.1097/01.mao.0000180484.24242.54, 00129492-200602000-00011 [pii]PubMedCrossRefGoogle Scholar
  52. 52.
    Otto SR, House WF, Brackmann DE, Hitselberger WE, Nelson RA (1990) Auditory brain stem implant: effect of tumor size and preoperative hearing level on function. Ann Otol Rhinol Laryngol 99(10 Pt 1):789–790PubMedGoogle Scholar
  53. 53.
    Otto SR, Shannon RV, Wilkinson EP, Hitselberger WE, McCreery DB, Moore JK, Brackmann DE (2008) Audiologic outcomes with the penetrating electrode auditory brainstem implant. Otol Neurotol 29(8):1147–1154. doi: 10.1097/MAO.0b013e31818becb4 PubMedCrossRefGoogle Scholar
  54. 54.
    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(4):450–461. doi: 10.1002/ajmg.1320520411 PubMedCrossRefGoogle Scholar
  55. 55.
    Phi JH, Kim DG, Chung HT, Lee J, Paek SH, Jung HW (2009) Radiosurgical treatment of vestibular schwannomas in patients with neurofibromatosis type 2: tumor control and hearing preservation. Cancer 115(2):390–398. doi: 10.1002/cncr.24036 PubMedCrossRefGoogle Scholar
  56. 56.
    Preuss M, Stein M, Huegens-Penzel M, Kuchelmeister K, Nestler U (2008) Metastatic tumours mimicking vestibular schwannoma. Acta Neurochir (Wien) 150(9):915–919. doi: 10.1007/s00701-008-0007-5 CrossRefGoogle Scholar
  57. 57.
    Ragge NK (1993) Clinical and genetic patterns of neurofibromatosis 1 and 2. Br J Ophthalmol 77(10):662–672PubMedCrossRefGoogle Scholar
  58. 58.
    Ramsden R, Khwaja S, Green K, O’Driscoll M, Mawman D (2005) Vestibular schwannoma in the only hearing ear: cochlear implant or auditory brainstem implant? Otol Neurotol 26(2):261–264, 00129492-200503000-00023 [pii]PubMedCrossRefGoogle Scholar
  59. 59.
    Roehm PC, Mallen-St Clair J, Jethanamest D, Golfinos JG, Shapiro W, Waltzman S, Roland JT (2011) Auditory rehabilitation of patients with ­neurofibromatosis type 2 by using cochlear implants. J Neurosurg 115(4):827–834. doi: 10.3171/2011.5.JNS101929 PubMedCrossRefGoogle Scholar
  60. 60.
    Rowe JG, Radatz M, Walton L, Kemeny AA (2002) Stereotactic radiosurgery for type 2 neurofibromatosis acoustic neuromas: patient selection and tumour size. Stereotact Funct Neurosurg 79(2):107–116. doi: 10.1159/000070106, 70106 [pii]PubMedCrossRefGoogle Scholar
  61. 61.
    Ruggieri M (2001) Mosaic (segmental) neurofibro­matosis type 1 (NF1) and type 2 (NF2): no longer neurofibromatosis type 5 (NF5). Am J Med Genet 101(2):178–180. doi: 10.1002/ajmg.1332 PubMedCrossRefGoogle Scholar
  62. 62.
    Samii A, Lenarz M, Majdani O, Lim HH, Samii M, Lenarz T (2007) Auditory midbrain implant: a combined approach for vestibular schwannoma surgery and device implantation. Otol Neurotol 28(1):31–38. doi: 10.1097/01.mao.0000247819.16325.7d, 00129492-200701000-00006 [pii]PubMedCrossRefGoogle Scholar
  63. 63.
    Samii M, Gerganov V, Samii A (2008) Microsurgery management of vestibular schwannomas in neuro­fibromatosis type 2: indications and results. Prog Neurol Surg 21:169–175. doi: 10.1159/000156905, 156905 [pii]PubMedCrossRefGoogle Scholar
  64. 64.
    Seppala MT, Sainio MA, Haltia MJ, Kinnunen JJ, Setala KH, Jaaskelainen JE (1998) Multiple schwannomas: schwannomatosis or neurofibromatosis type 2? J Neurosurg 89(1):36–41. doi: 10.3171/jns.1998.89.1.0036 PubMedCrossRefGoogle Scholar
  65. 65.
    Shannon RV, Fayad J, Moore J, Lo WW, Otto S, Nelson RA, O’Leary M (1993) Auditory brainstem implant: II. Postsurgical issues and performance. Otolaryngol Head Neck Surg 108(6):634–642PubMedGoogle Scholar
  66. 66.
    Slattery WH 3rd, Brackmann DE, Hitselberger W (1998) Hearing preservation in neurofibromatosis type 2. Am J Otol 19(5):638–643PubMedGoogle Scholar
  67. 67.
    Slattery WH 3rd, Fisher LM, Hitselberger W, Friedman RA, Brackmann DE (2007) Hearing preservation surgery for neurofibromatosis type 2-related vestibular schwannoma in pediatric patients. J Neurosurg 106(4 Suppl):255–260. doi: 10.3171/ped.2007.106.4.255 PubMedGoogle Scholar
  68. 68.
    Thiagalingam S, Flaherty M, Billson F, North K (2004) Neurofibromatosis type 1 and optic pathway gliomas: follow-up of 54 patients. Ophthalmology 111(3):568–577. doi: 10.1016/j.ophtha.2003.06.008, S0161-6420(03)01420-9 [pii]PubMedCrossRefGoogle Scholar
  69. 69.
    Tran Ba Huy P, Kania R, Frachet B, Poncet C, Legac MS (2009) Auditory rehabilitation with cochlear implantation in patients with neurofibro­matosis type 2. Acta Otolaryngol 129(9):971–975. doi: 10.1080/00016480802510202, 905661602 [pii]PubMedCrossRefGoogle Scholar
  70. 70.
    Ucar T, Akyuz M, Kazan S, Tuncer R (2000) Bilateral cerebellopontine angle arachnoid cysts: case report. Neurosurgery 47(4):966–968PubMedCrossRefGoogle Scholar
  71. 71.
    Vincent C, Zini C, Gandolfi A, Triglia JM, Pellet W, Truy E, Fischer G, Maurizi M, Meglio M, Lejeune JP, Vaneecloo FM (2002) Results of the MXM Digisonic auditory brainstem implant clinical trials in Europe. Otol Neurotol 23(1):56–60PubMedCrossRefGoogle Scholar
  72. 72.
    Ward BA, Gutmann DH (2005) Neurofibromatosis 1: from lab bench to clinic. Pediatr Neurol 32(4):221–228. doi: 10.1016/j.pediatrneurol.2004.11.002, S0887-8994(04)00555-7 [pii]PubMedCrossRefGoogle Scholar
  73. 73.
    Yohay K (2006) Neurofibromatosis types 1 and 2. Neurologist 12(2):86–93. doi: 10.1097/01.nrl.0000195830.22432.a5, 00127893-200603000-00003 [pii]PubMedCrossRefGoogle Scholar

Copyright information

© Springer-Verlag Berlin Heidelberg 2013

Authors and Affiliations

  • Madjid Samii
    • 1
  • Venelin Gerganov
    • 2
  1. 1.International Neuroscience Institute INIHannoverGermany
  2. 2.Department of NeurosurgeryInternational Neuroscience InstituteHannoverGermany

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