Neurofibromatosis: Tumors of the Optic Pathway

  • John M. Slopis
  • Jade S. Schiffman
Part of the M.D. Anderson Solid Tumor Oncology Series book series (MDA, volume 6)


Various tumors occur in patients with neurofibromatosis type 1. In this chapter, we discuss the clinical presentation and evaluation of four types of tumors affecting patients with neurofibromatosis type 1: periorbital and orbital neurofibroma, intraorbital optic nerve glioma, chiasmal and hypothalamic glioma, and intraparenchymal astrocytoma. Treatment options are also discussed.


Optic Nerve Optic Pathway Obstructive Hydrocephalus Visual Field Testing Plexiform Neurofibroma 
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  1. 1.
    Mulvihill JJ, Parry DM, Sherman JL, Pikus A, Kaiser-Kupfer MI, Eldridge R. NIH conference. Neurofibromatosis 1 (Recklinghausen disease) and neurofibromatosis 2 (bilateral acoustic neurofibromatosis). An update. Ann Intern Med 1990;113(1):39–52.PubMedGoogle Scholar
  2. 2.
    Wallace MR, Marchuk DA, Andersen LB, Letcher R, Odeh HM, Saulino AM, Fountain JW, Brereton A, Nicholson J, Mitchell AL, et al. Type 1 neurofibromatosis gene: identification of a large transcript disrupted in three NF1 patients. Science 1990;249(4965):181–6.PubMedCrossRefGoogle Scholar
  3. 3.
    Viskochil D, Buchberg AM, Xu G, Cawthon RM, Stevens J, Wolff RK, Culver M, Carey JC, Copeland NG, Jenkins NA, et al. Deletions and a translocation interrupt a cloned gene at the neurofibromatosis type 1 locus. Cell 1990;62(1):187–92.PubMedCrossRefGoogle Scholar
  4. 4.
    von Deimling A, Krone W, Menon AG. Neurofibromatosis type 1: pathology, clinical features and molecular genetics. Brain Pathol 1995;5(2):153–62.CrossRefGoogle Scholar
  5. 5.
    Neurofibromatosis. Conference statement. In: National Institutes of Health Consensus Development Conference, Vol. 45, 1988/05/01 edn. Arch Neurol 1988:575–8.Google Scholar
  6. 6.
    Gutmann DH, Aylsworth A, Carey JC, Korf B, Marks J, Pyeritz RE, Rubenstein A, Viskochil D. The diagnostic evaluation and multidisciplinary management of neurofibromatosis 1 and neurofibromatosis 2. JAMA 1997;278(1):51–7.PubMedCrossRefGoogle Scholar
  7. 7.
    Listernick R, Louis DN, Packer RJ, Gutmann DH. Optic pathway gliomas in children with neurofibromatosis 1: consensus statement from the NF1 Optic Pathway Glioma Task Force. Ann Neurol 1997;41(2):143–9.PubMedCrossRefGoogle Scholar
  8. 8.
    Friedman JM. Neurofibromatosis 1: clinical manifestations and diagnostic criteria. J Child Neurol 2002 Aug;17(8):548–54; discussion 571–2, 646–51.PubMedCrossRefGoogle Scholar
  9. 9.
    Evans DG, Baser ME, McGaughran J, Sharif S, Howard E, Moran A. Malignant peripheral nerve sheath tumours in neurofibromatosis 1. J Med Genet 2002;39(5):311–4.PubMedCrossRefGoogle Scholar
  10. 10.
    Thomas C, Somani N, Owen LG, Malone JC, Billings SD. Cutaneous malignant peripheral nerve sheath tumors. J Cutan Pathol 2009;36(8):896–900.PubMedCrossRefGoogle Scholar
  11. 11.
    Chang BC, Mirabella G, Yagev R, Banh M, Mezer E, Parkin PC, Westall CA, Buncic JR. Screening and diagnosis of optic pathway gliomas in children with neurofibromatosis type 1 by using sweep visual evoked potentials. Invest Ophthalmol Vis Sci 2007;48(6):2895–902.PubMedCrossRefGoogle Scholar
  12. 12.
    Montgomery AB, Griffin T, Parker RG, Gerdes AJ. Optic nerve glioma: the role of radiation therapy. Cancer 1977;40(5):2079–80.PubMedCrossRefGoogle Scholar
  13. 13.
    Parker JC, Jr., Smith JL, Reyes P, Vuksanovic MM. Chiasmal optic glioma after radiation therapy. Neuro-ophthalmologic/pathologic correlation. J Clin Neuroophthalmol 1981;1(1):31–43.PubMedGoogle Scholar
  14. 14.
    Glaser JS, Hoyt WF, Corbett J. Visual morbidity with chiasmal glioma. Long-term studies of visual fields in untreated and irradiated cases. Arch Ophthalmol 1971;85(1):3–12.PubMedCrossRefGoogle Scholar
  15. 15.
    Ullrich NJ, Robertson R, Kinnamon DD, Scott RM, Kieran MW, Turner CD, Chi SN, Goumnerova L, Proctor M, Tarbell NJ, et al. Moyamoya following cranial irradiation for primary brain tumors in children. Neurology 2007;68(12):932–8.PubMedCrossRefGoogle Scholar
  16. 16.
    Aoki S, Barkovich AJ, Nishimura K, Kjos BO, Machida T, Cogen P, Edwards M, Norman D. Neurofibromatosis types 1 and 2: cranial MR findings. Radiology 1989;172(2):527–34.PubMedGoogle Scholar
  17. 17.
    Vassilopoulou-Sellin R, Klein MJ, Slopis JK. Growth hormone deficiency in children with neurofibromatosis type 1 without suprasellar lesions. Pediatr Neurol 2000;22(5):355–8.PubMedCrossRefGoogle Scholar
  18. 18.
    Billingsley RL, Lang FF, Slopis JM, Schrimsher GW, Ater JL, Moore BD, 3rd. Visual-spatial neglect in a child following sub-cortical tumor resection. Dev Med Child Neurol 2002;44(3):191–9.PubMedCrossRefGoogle Scholar
  19. 19.
    Mazzocco MMM, Turner JE, Bridge Denckla M, Hofman KJ, Scanlon DC, Vellutino FR. Language and reading deficits associated with neurofibromatosis type 1: evidence for a not-so-nonverbal learning disability. Dev Neuropsychol 1995;11(4):503–22.CrossRefGoogle Scholar
  20. 20.
    Coude FX, Mignot C, Lyonnet S, Munnich A. Academic impairment is the most frequent complication of neurofibromatosis type-1 (NF1) in children. Behav Genet 2006;36(5):660–4.PubMedCrossRefGoogle Scholar
  21. 21.
    Balestri P, Vivarelli R, Grosso S, Santori L, Farnetani MA, Galluzzi P, Vatti GP, Calabrese F, Morgese G. Malformations of cortical development in neurofibromatosis type 1. Neurology 2003;61(12):1799–801.PubMedCrossRefGoogle Scholar
  22. 22.
    Billingsley RL, Schrimsher GW, Jackson EF, Slopis JM, Moore BD, 3rd. Significance of planum temporale and planum parietale morphologic features in neurofibromatosis type 1. Arch Neurol 2002;59(4):616–22.PubMedCrossRefGoogle Scholar
  23. 23.
    Itoh T, Magnaldi S, White RM, Denckla MB, Hofman K, Naidu S, Bryan RN. Neurofibromatosis type 1: the evolution of deep gray and white matter MR abnormalities. AJNR Am J Neuroradiol 1994;15(8):1513–9.PubMedGoogle Scholar
  24. 24.
    Kayl AE, Moore BD, 3rd, Slopis JM, Jackson EF, Leeds NE. Quantitative morphology of the corpus callosum in children with neurofibromatosis and attention-deficit hyperactivity disorder. J Child Neurol 2000;15(2):90–6.PubMedCrossRefGoogle Scholar
  25. 25.
    Schrimsher GW, Billingsley RL, Slopis JM, Moore BD, 3rd. Visual-spatial performance deficits in children with neurofibromatosis type-1. Am J Med Genet A 2003;120A(3):326–30.PubMedCrossRefGoogle Scholar
  26. 26.
    DiPaolo DP, Zimmerman RA, Rorke LB, Zackai EH, Bilaniuk LT, Yachnis AT. Neurofibromatosis type 1: pathologic substrate of high-signal-intensity foci in the brain. Radiology 1995;195(3):721–4.PubMedGoogle Scholar
  27. 27.
    Duffner PK, Cohen ME, Seidel FG, Shucard DW. The significance of MRI abnormalities in children with neurofibromatosis. Neurology 1989;39(3):373–8.PubMedCrossRefGoogle Scholar
  28. 28.
    Sevick RJ, Barkovich AJ, Edwards MS, Koch T, Berg B, Lempert T. Evolution of white matter lesions in neurofibromatosis type 1: MR findings. AJR Am J Roentgenol 1992;159(1):171–5.PubMedGoogle Scholar

Copyright information

© Springer Science+Business Media, LLC 2010

Authors and Affiliations

  1. 1.Department of Neuro-OncologyThe University of Texas M.D. Anderson Cancer CenterHoustonUSA
  2. 2.Section of Ophthalmology, Department of Head and Neck SurgeryThe University of Texas M.D. Anderson Cancer CenterHoustonUSA

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