Advertisement

NF2-Related Tumors and Malignant Peripheral Nerve Sheath Tumors

  • Timothy D. Struve
  • Luke E. Pater
  • John Breneman
Chapter

Abstract

Neurofibromatosis (NF) types 1 and 2 are classified as phacomatoses with an autosomal-dominant inheritance pattern. They are important in the field of neuro-oncology as they predispose affected patients to a number of CNS tumors including acoustic schwannoma, meningioma, glioma, ependymoma, and malignant peripheral nerve sheath tumor (MPNST). Management of tumors in patients with NF can differ from that in the non-NF population owing to a natural history that may be more aggressive, a greater need to preserve function in patients with acoustic schwannoma, and the concern for increased risk of radiation-induced tumors in this population. The management of NF-related acoustic schwannoma, meningioma, and MPNST is discussed here, while management of glioma and ependymoma is presented in separate chapters.

Keywords

Neurofibromatosis Meningioma Acoustic schwannoma MPNST Nerve sheath tumor NF1 NF2 

References

  1. 1.
    Asthagiri AR, Parry DM, Butman JA, et al. Neurofibromatosis type 2. Lancet. 2009;373(9679):1974–86.CrossRefPubMedPubMedCentralGoogle Scholar
  2. 2.
    Wishart JH. Case of tumours in the skull, dura mater and brain. Edinburgh Med Surg J. 1822;18:393–7.Google Scholar
  3. 3.
    Rouleau GA, Wertelecki W, Haines JL, et al. Genetic linkage of bilateral acoustic neurofibromatosis to a DNA marker on chromosome 22. Nature. 1987;329(6136):246–8.CrossRefPubMedGoogle Scholar
  4. 4.
    Seizinger BR, Rouleau GA, Ozelius LJ, et al. Genetic linkage of von Recklinghausen neurofibromatosis to the nerve growth factor receptor gene. Cell. 1987;49(5):589–94.CrossRefPubMedGoogle Scholar
  5. 5.
    Evans DG, Moran A, King A, et al. 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(1):93–7.CrossRefPubMedGoogle Scholar
  6. 6.
    Evans DG, Huson SM, Donnai D, et al. 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. 1992;29(12):841–6.CrossRefPubMedPubMedCentralGoogle Scholar
  7. 7.
    Evans DG, Trueman L, Wallace A, et al. Genotype/phenotype correlations in type 2 neurofibromatosis (NF2): evidence for more severe disease associated with truncating mutations. J Med Genet. 1998;35(6):450–5.CrossRefPubMedPubMedCentralGoogle Scholar
  8. 8.
    Parry DM, MacCollin MM, Kaiser-Kupfer MI, et al. Germ-line mutations in the neurofibromatosis 2 gene: correlations with disease severity and retinal abnormalities. Am J Hum Genet. 1996;59(3):529–39.PubMedPubMedCentralGoogle Scholar
  9. 9.
    Evans DG, Baser ME, O'Reilly B, et al. Management of the patient and family with neurofibromatosis 2: a consensus conference statement. Br J Neurosurg. 2005;19(1):5–12.CrossRefPubMedGoogle Scholar
  10. 10.
    Brackmann DE, Fayad JN, Slattery WH 3rd, et al. Early proactive management of vestibular schwannomas in neurofibromatosis type 2. Neurosurgery. 2001;49(2):274–80. discussion 80–3PubMedGoogle Scholar
  11. 11.
    Khrais T, Romano G, Sanna M. Nerve origin of vestibular schwannoma: a prospective study. J Laryngol Otol. 2008;122(2):128–31.CrossRefPubMedGoogle Scholar
  12. 12.
    Slattery WH 3rd, Brackmann DE, Hitselberger W. Hearing preservation in neurofibromatosis type 2. Am J Otol. 1998;19(5):638–43.PubMedGoogle Scholar
  13. 13.
    Jaaskelainen J, Paetau A, Pyykko I, et al. Interface between the facial nerve and large acoustic neurinomas. Immunohistochemical study of the cleavage plane in NF2 and non-NF2 cases. J Neurosurg. 1994;80(3):541–7.CrossRefPubMedGoogle Scholar
  14. 14.
    Baser ME, Makariou EV, Parry DM. Predictors of vestibular schwannoma growth in patients with neurofibromatosis Type 2. J Neurosurg. 2002;96(2):217–22.CrossRefPubMedGoogle Scholar
  15. 15.
    Slattery WH 3rd, Fisher LM, Iqbal Z, et al. Vestibular schwannoma growth rates in neurofibromatosis type 2 natural history consortium subjects. Otol Neurotol. 2004;25(5):811–7.CrossRefPubMedGoogle Scholar
  16. 16.
    Dirks MS, Butman JA, Kim HJ, et al. Long-term natural history of neurofibromatosis Type 2-associated intracranial tumors. J Neurosurg. 2012;117(1):109–17.CrossRefPubMedPubMedCentralGoogle Scholar
  17. 17.
    Fisher LM, Doherty JK, Lev MH, et al. Concordance of bilateral vestibular schwannoma growth and hearing changes in neurofibromatosis 2: neurofibromatosis 2 natural history consortium. Otol Neurotol. 2009;30(6):835–41.CrossRefPubMedGoogle Scholar
  18. 18.
    Masuda A, Fisher LM, Oppenheimer ML, et al. Hearing changes after diagnosis in neurofibromatosis type 2. Otol Neurotol. 2004;25(2):150–4.CrossRefPubMedGoogle Scholar
  19. 19.
    Plotkin SR, Merker VL, Muzikansky A, et al. Natural history of vestibular schwannoma growth and hearing decline in newly diagnosed neurofibromatosis type 2 patients. Otol Neurotol. 2014;35(1):e50–6.CrossRefPubMedGoogle Scholar
  20. 20.
    Plotkin SR, Merker VL, Halpin C, et al. Bevacizumab for progressive vestibular schwannoma in neurofibromatosis type 2: a retrospective review of 31 patients. Otol Neurotol. 2012;33(6):1046–52.CrossRefPubMedGoogle Scholar
  21. 21.
    Ruggieri M, Pratico AD, Evans DG. Diagnosis, management, and new therapeutic options in childhood neurofibromatosis type 2 and related forms. Semin Pediatr Neurol. 2015;22(4):240–58.CrossRefPubMedGoogle Scholar
  22. 22.
    Kida Y, Kobayashi T, Tanaka T, et al. Radiosurgery for bilateral neurinomas associated with neurofibromatosis type 2. Surg Neurol. 2000;53(4):383–9. discussion 9–90CrossRefPubMedGoogle Scholar
  23. 23.
    Linskey ME, Lunsford LD, Flickinger JC. Tumor control after stereotactic radiosurgery in neurofibromatosis patients with bilateral acoustic tumors. Neurosurgery. 1992;31(5):829–38. discussion 38–9CrossRefPubMedGoogle Scholar
  24. 24.
    Mallory GW, Pollock BE, Foote RL, et al. Neurosurgery. 2014;74(3):292–300. discussion −1CrossRefPubMedGoogle Scholar
  25. 25.
    Mathieu D, Kondziolka D, Flickinger JC, et al. Stereotactic radiosurgery for vestibular schwannomas in patients with neurofibromatosis type 2: an analysis of tumor control, complications, and hearing preservation rates. Neurosurgery. 2007;60(3):460–8. discussion 8–70CrossRefPubMedGoogle Scholar
  26. 26.
    Roche PH, Regis J, Pellet W, et al. Neurofibromatosis type 2. Preliminary results of gamma knife radiosurgery of vestibular schwannomas. Neurochirurgie. 2000;46(4):339–53. discussion 54PubMedGoogle Scholar
  27. 27.
    Rowe JG, Radatz MW, Walton L, et al. Clinical experience with gamma knife stereotactic radiosurgery in the management of vestibular schwannomas secondary to type 2 neurofibromatosis. J Neurol Neurosurg Psychiatry. 2003;74(9):1288–93.CrossRefPubMedPubMedCentralGoogle Scholar
  28. 28.
    Subach BR, Kondziolka D, Lunsford LD, et al. Stereotactic radiosurgery in the management of acoustic neuromas associated with neurofibromatosis Type 2. J Neurosurg. 1999;90(5):815–22.CrossRefPubMedGoogle Scholar
  29. 29.
    Bush DA, McAllister CJ, Loredo LN, et al. Fractionated proton beam radiotherapy for acoustic neuroma. Neurosurgery. 2002;50(2):270–3. discussion 3–5PubMedGoogle Scholar
  30. 30.
    Harsh GR, Thornton AF, Chapman PH, et al. Proton beam stereotactic radiosurgery of vestibular schwannomas. Int J Radiat Oncol Biol Phys. 2002;54(1):35–44.CrossRefPubMedGoogle Scholar
  31. 31.
    Vernimmen FJ, Mohamed Z, Slabbert JP, et al. Long-term results of stereotactic proton beam radiotherapy for acoustic neuromas. Radiother Oncol. 2009;90(2):208–12.CrossRefPubMedGoogle Scholar
  32. 32.
    Weber DC, Chan AW, Bussiere MR, et al. Proton beam radiosurgery for vestibular schwannoma: tumor control and cranial nerve toxicity. Neurosurgery. 2003;53(3):577–86. discussion 86–8CrossRefPubMedGoogle Scholar
  33. 33.
    Lunsford LD, Niranjan A, Flickinger JC, et al. Radiosurgery of vestibular schwannomas: summary of experience in 829 cases. J Neurosurg. 2005;102(Suppl):195–9.CrossRefPubMedGoogle Scholar
  34. 34.
    Bari ME, Forster DM, Kemeny AA, et al. Malignancy in a vestibular schwannoma. Report of a case with central neurofibromatosis, treated by both stereotactic radiosurgery and surgical excision, with a review of the literature. Br J Neurosurg. 2002;16(3):284–9.CrossRefPubMedGoogle Scholar
  35. 35.
    Baser ME, Evans DG, Jackler RK, et al. Neurofibromatosis 2, radiosurgery and malignant nervous system tumours. Br J Cancer. 2000;82(4):998.CrossRefPubMedPubMedCentralGoogle Scholar
  36. 36.
    Noren G. Long-term complications following gamma knife radiosurgery of vestibular schwannomas. Stereotact Funct Neurosurg. 1998;70(Suppl 1):65–73.CrossRefPubMedGoogle Scholar
  37. 37.
    Thomsen J, Mirz F, Wetke R, et al. Intracranial sarcoma in a patient with neurofibromatosis type 2 treated with gamma knife radiosurgery for vestibular schwannoma. Am J Otol. 2000;21(3):364–70.CrossRefPubMedGoogle Scholar
  38. 38.
    Comey CH, McLaughlin MR, Jho HD, et al. Death from a malignant cerebellopontine angle triton tumor despite stereotactic radiosurgery. Case report. J Neurosurg. 1998;89(4):653–8.CrossRefPubMedGoogle Scholar
  39. 39.
    Evans DG, Huson SM, Donnai D, et al. A clinical study of type 2 neurofibromatosis. Q J Med. 1992;84(304):603–18.PubMedGoogle Scholar
  40. 40.
    Mautner VF, Lindenau M, Baser ME, et al. The neuroimaging and clinical spectrum of neurofibromatosis 2. Neurosurgery. 1996;38(5):880–5. discussion 5–6CrossRefPubMedGoogle Scholar
  41. 41.
    Patronas NJ, Courcoutsakis N, Bromley CM, et al. Intramedullary and spinal canal tumors in patients with neurofibromatosis 2: MR imaging findings and correlation with genotype. Radiology. 2001;218(2):434–42.CrossRefPubMedGoogle Scholar
  42. 42.
    Perry A, Giannini C, Raghavan R, et al. Aggressive phenotypic and genotypic features in pediatric and NF2-associated meningiomas: a clinicopathologic study of 53 cases. J Neuropathol Exp Neurol. 2001;60(10):994–1003.CrossRefPubMedGoogle Scholar
  43. 43.
    Slattery WH. Neurofibromatosis type 2. Otolaryngol Clin N Am. 2015;48(3):443–60.CrossRefGoogle Scholar
  44. 44.
    Evans DG, Birch JM, Ramsden RT. Paediatric presentation of type 2 neurofibromatosis. Arch Dis Child. 1999;81(6):496–9.CrossRefPubMedPubMedCentralGoogle Scholar
  45. 45.
    Ardern-Holmes S, Fisher G, North K. Neurofibromatosis type 2: presentation, major complications, and management, with a focus on the pediatric age group. J Child Neurol. 2017;32(1):9–22Google Scholar
  46. 46.
    Bosch MM, Wichmann WW, Boltshauser E, et al. Optic nerve sheath meningiomas in patients with neurofibromatosis type 2. Arch Ophthalmol. 2006;124(3):379–85.CrossRefPubMedGoogle Scholar
  47. 47.
    Goutagny S, Kalamarides M. Meningiomas and neurofibromatosis. J Neurooncol. 2010;99(3):341–7.CrossRefPubMedGoogle Scholar
  48. 48.
    Baser ME, Friedman JM, Aeschliman D, et al. Predictors of the risk of mortality in neurofibromatosis 2. Am J Hum Genet. 2002;71(4):715–23.CrossRefPubMedPubMedCentralGoogle Scholar
  49. 49.
    Evans DG, Sainio M, Baser ME. Neurofibromatosis type 2. J Med Genet. 2000;37(12):897–904.CrossRefPubMedPubMedCentralGoogle Scholar
  50. 50.
    Roser F, Nakamura M, Martini-Thomas R, et al. The role of surgery in meningiomas involving the optic nerve sheath. Clin Neurol Neurosurg. 2006;108(5):470–6.CrossRefPubMedGoogle Scholar
  51. 51.
    Santacroce A, Walier M, Regis J, et al. Long-term tumor control of benign intracranial meningiomas after radiosurgery in a series of 4565 patients. Neurosurgery. 2012;70(1):32–9. discussion 9CrossRefPubMedGoogle Scholar
  52. 52.
    Kondziolka D, Madhok R, Lunsford LD, et al. Stereotactic radiosurgery for convexity meningiomas. J Neurosurg. 2009;111(3):458–63.CrossRefPubMedGoogle Scholar
  53. 53.
    Wentworth S, Pinn M, Bourland JD, et al. Clinical experience with radiation therapy in the management of neurofibromatosis-associated central nervous system tumors. Int J Radiat Oncol Biol Phys. 2009;73(1):208–13.CrossRefPubMedGoogle Scholar
  54. 54.
    Birckhead B, Sio TT, Pollock BE, et al. Gamma Knife radiosurgery for neurofibromatosis type 2-associated meningiomas: a 22-year patient series. J Neuro-Oncol. 2016;130(3):553–60.CrossRefGoogle Scholar
  55. 55.
    Liu A, Kuhn EN, Lucas JT Jr, et al. Gamma Knife radiosurgery for meningiomas in patients with neurofibromatosis Type 2. J Neurosurg. 2015;122(3):536–42.CrossRefPubMedGoogle Scholar
  56. 56.
    Huang JH, Zhang J, Zager EL. Diagnosis and treatment options for nerve sheath tumors. Expert Rev Neurother. 2005;5(4):515–23.CrossRefPubMedGoogle Scholar
  57. 57.
    Louis DN, Ohgaki H, Wiestler OD, et al. WHO classification of tumours of the central nervous system. Lyon, France: International Agency for Research on Cancer; 2016.Google Scholar
  58. 58.
    Evans DG, Baser ME, McGaughran J, et al. Malignant peripheral nerve sheath tumours in neurofibromatosis 1. J Med Genet. 2002;39(5):311–4.CrossRefPubMedPubMedCentralGoogle Scholar
  59. 59.
    LaFemina J, Qin LX, Moraco NH, et al. Oncologic outcomes of sporadic, neurofibromatosis-associated, and radiation-induced malignant peripheral nerve sheath tumors. Ann Surg Oncol. 2013;20(1):66–72.CrossRefPubMedGoogle Scholar
  60. 60.
    Seferis C, Torrens M, Paraskevopoulou C, et al. Malignant transformation in vestibular schwannoma: report of a single case, literature search, and debate. J Neurosurg. 2014;121(Suppl):160–6.PubMedGoogle Scholar
  61. 61.
    Byerly S, Chopra S, Nassif NA, et al. The role of margins in extremity soft tissue sarcoma. J Surg Oncol. 2016;113(3):333–8.CrossRefPubMedGoogle Scholar
  62. 62.
    Rosenberg SA, Tepper J, Glatstein E, et al. The treatment of soft-tissue sarcomas of the extremities: prospective randomized evaluations of (1) limb-sparing surgery plus radiation therapy compared with amputation and (2) the role of adjuvant chemotherapy. Ann Surg. 1982;196(3):305–15.CrossRefPubMedPubMedCentralGoogle Scholar
  63. 63.
    Ferrari A, Bisogno G, Carli M. Management of childhood malignant peripheral nerve sheath tumor. Paeditr Drugs. 2007;9:239–48.CrossRefGoogle Scholar
  64. 64.
    Derlin T, Tornquist K, Munster S, et al. Comparative effectiveness of 18F-FDG PET/CT versus whole-body MRI for detection of malignant peripheral nerve sheath tumors in neurofibromatosis type 1. Clin Nucl Med. 2013;38(1):e19–25.CrossRefPubMedGoogle Scholar
  65. 65.
    Valentin T, Le Cesne A, Ray-Coquard I, et al. Management and prognosis of malignant peripheral nerve sheath tumors: the experience of the French Sarcoma Group (GSF-GETO). Eur J Cancer. 2016;56:77–84.CrossRefPubMedGoogle Scholar
  66. 66.
    Zou C, Smith KD, Liu J, et al. Clinical, pathological, and molecular variables predictive of malignant peripheral nerve sheath tumor outcome. Ann Surg. 2009;249(6):1014–22.CrossRefPubMedGoogle Scholar
  67. 67.
    Kolberg M, Holand M, Agesen TH, et al. Survival meta-analyses for >1800 malignant peripheral nerve sheath tumor patients with and without neurofibromatosis type 1. Neurooncology. 2013;15(2):135–47.Google Scholar

Copyright information

© Springer International Publishing AG, part of Springer Nature 2018

Authors and Affiliations

  • Timothy D. Struve
    • 1
  • Luke E. Pater
    • 1
  • John Breneman
    • 1
  1. 1.Department of Radiation OncologyUniversity of CincinnatiCincinnatiUSA

Personalised recommendations