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Spinal Cord Tumors pp 187–209Cite as

Spinal Cord Tumors in Neurofacomatosis

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Abstract

Neurofacomatosis (phakomatoses) are a group of neuro-oculocutaneous disorders characterized by involvement of structures that arise from the embryonic ectoderm—thus, the central nervous system (CNS), skin, and eyes. The phakomatoses concept was formulated in 1923 by ophthalmologist Van Der Hoeve to describe three disorders (neurofibromatosis, tuberous sclerosis, and von Hippel-Lindau syndrome) according to their ophthalmologic manifestations (Greek phakos means birthmark). However, it has been subsequently noted that mesodermal and endodermal tissues are also involved. A number of genetic and acquired diseases come in this category and may affect one or more organ systems. They tend to form tumors in various organs, particular the nervous system. Now, neurofacomatosis are also termed as “neuroectodermatoses” or “neurocutaneous syndrome.” Intramedullary spinal cord tumors are rare. They account for only 4–6% of all CNS tumors. In this chapter, we survey the neurocutaneous tumor syndrome and intramedullary spinal cord tumor associated with the three major neurofacomatosis: Neurofibromatosis type I (NF1), Neurofibromatosis type 2 (NF2), and von Hippel-Lindau syndrome (VHL).

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References

  1. Van Der Hoeve J. Les phacomatoses de Bourneville, de Recklinghausen at de von Hippel-Lindau. J Beige Neurol Psychiatr. 1933;33:752.

    Google Scholar 

  2. Van Der Hoeve J. Eye diseases in tuberous sclerosis of the brain and in Recklinghausen disease. Trans Ophthalmol Soc UK. 1923;43:534.

    Google Scholar 

  3. Russell DS, Rubinstein LJ. Pathology of Tumors of the Nervous System. 5th ed. London: Edward Arnold; 1989.

    Google Scholar 

  4. Von Recklinghausen F. Ueber die multiplen Fibrome der Haut und ihre Beziehung zu den multiplen Neuromen. Berlin: Verlag von August Hirschwald; 1882.

    Google Scholar 

  5. Korf BR. Clinical features and pathobiology of neurofibromatosis 1. J Child Neurol. 2002;17(8):573–7.; discussion 602-574, 646-551. https://doi.org/10.1177/088307380201700806.

    Article  PubMed  Google Scholar 

  6. Lammert M, Friedman JM, Kluwe L, Mautner VF. Prevalence of neurofibromatosis 1 in German children at elementary school enrollment. Arch Dermatol. 2005;141(1):71–4. https://doi.org/10.1001/archderm.141.1.71.

    Article  PubMed  Google Scholar 

  7. North K. Neurofibromatosis type 1: review of the first 200 patients in an Australian clinic. J Child Neurol. 1993;8(4):395–402. https://doi.org/10.1177/088307389300800421.

    Article  CAS  PubMed  Google Scholar 

  8. DeBella K, Szudek J, Friedman JM. Use of the national institutes of health criteria for diagnosis of neurofibromatosis 1 in children. Pediatrics. 2000;105(3 Pt 1):608–14.

    CAS  PubMed  Google Scholar 

  9. Poyhonen M, Niemela S, Herva R. Risk of malignancy and death in neurofibromatosis. Arch Pathol Lab Med. 1997;121(2):139–43.

    CAS  PubMed  Google Scholar 

  10. Farrell CJ, Plotkin SR. Genetic causes of brain tumors: neurofibromatosis, tuberous sclerosis, von Hippel-Lindau, and other syndromes. Neurol Clin. 2007;25(4):925–46., viii. https://doi.org/10.1016/j.ncl.2007.07.008.

    Article  PubMed  Google Scholar 

  11. Pros E, Gomez C, Martin T, Fabregas P, Serra E, Lazaro C. Nature and mRNA effect of 282 different NF1 point mutations: focus on splicing alterations. Hum Mutat. 2008;29(9):E173–93. https://doi.org/10.1002/humu.20826.

    Article  PubMed  Google Scholar 

  12. Cawthon RM, Weiss R, Xu GF, Viskochil D, Culver M, Stevens J, Robertson M, Dunn D, Gesteland R, O'Connell P, et al. A major segment of the neurofibromatosis type 1 gene: cDNA sequence, genomic structure, and point mutations. Cell. 1990;62(1):193–201.

    CAS  PubMed  Google Scholar 

  13. Li Y, O'Connell P, Breidenbach HH, Cawthon R, Stevens J, Xu G, Neil S, Robertson M, White R, Viskochil D. Genomic organization of the neurofibromatosis 1 gene (NF1). Genomics. 1995;25(1):9–18.

    CAS  PubMed  Google Scholar 

  14. Daston MM, Scrable H, Nordlund M, Sturbaum AK, Nissen LM, Ratner N. The protein product of the neurofibromatosis type 1 gene is expressed at highest abundance in neurons, Schwann cells, and oligodendrocytes. Neuron. 1992;8(3):415–28.

    CAS  PubMed  Google Scholar 

  15. Zhu Y, Ghosh P, Charnay P, Burns DK, Parada LF. Neurofibromas in NF1: Schwann cell origin and role of tumor environment. Science. 2002;296(5569):920–2. https://doi.org/10.1126/science.1068452.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  16. Gutmann DH, Donahoe J, Brown T, James CD, Perry A. Loss of neurofibromatosis 1 (NF1) gene expression in NF1-associated pilocytic astrocytomas. Neuropathol Appl Neurobiol. 2000;26(4):361–7.

    CAS  PubMed  Google Scholar 

  17. Hutt-Cabezas M, Karajannis MA, Zagzag D, Shah S, Horkayne-Szakaly I, Rushing EJ, Cameron JD, Jain D, Eberhart CG, Raabe EH, Rodriguez FJ. Activation of mTORC1/mTORC2 signaling in pediatric low-grade glioma and pilocytic astrocytoma reveals mTOR as a therapeutic target. Neuro-Oncology. 2013;15(12):1604–14. https://doi.org/10.1093/neuonc/not132.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  18. Daras M, Kaley TJ. Benign brain tumors and tumors associated with phakomatoses. Continuum (Minneap Minn). 2015; 21(2 Neuro-oncology):397–414. https://doi.org/10.1212/01.CON.0000464177.73440.44.

  19. American Academy of Pediatrics Committee on Genetics. Health supervision for children with neurofibromatosis. Pediatrics. 1995;96(2 Pt 1):368–72.

    Google Scholar 

  20. Yohay K. Neurofibromatosis type 1 and associated malignancies. Curr Neurol Neurosci Rep. 2009;9(3):247–53.

    CAS  PubMed  Google Scholar 

  21. Walker L, Thompson D, Easton D, Ponder B, Ponder M, Frayling I, Baralle D. A prospective study of neurofibromatosis type 1 cancer incidence in the UK. Br J Cancer. 2006;95(2):233–8. https://doi.org/10.1038/sj.bjc.6603227.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  22. Nguyen R, Dombi E, Akshintala S, Baldwin A, Widemann BC. Characterization of spinal findings in children and adults with neurofibromatosis type 1 enrolled in a natural history study using magnetic resonance imaging. J Neuro-Oncol. 2015;121(1):209–15. https://doi.org/10.1007/s11060-014-1629-5.

    Article  Google Scholar 

  23. Abul-Kasim K, Thurnher MM, McKeever P, Sundgren PC. Intradural spinal tumors: current classification and MRI features. Neuroradiology. 2008;50(4):301–14. https://doi.org/10.1007/s00234-007-0345-7.

    Article  PubMed  Google Scholar 

  24. Carey JC, Viskochil DH. Neurofibromatosis type 1: A model condition for the study of the molecular basis of variable expressivity in human disorders. Am J Med Genet. 1999;89(1):7–13.

    CAS  PubMed  Google Scholar 

  25. Riccardi VM. Neurofibromatosis, Phenotype, Natural History, and Pathogenesis. 2nd ed. Baltimore: Johns Hopkins University Press; 1992.

    Google Scholar 

  26. Nguyen R, Dombi E, Widemann BC, Solomon J, Fuensterer C, Kluwe L, Friedman JM, Mautner VF. Growth dynamics of plexiform neurofibromas: a retrospective cohort study of 201 patients with neurofibromatosis 1. Orphanet J Rare Dis. 2012;7:75. https://doi.org/10.1186/1750-1172-7-75.

    Article  PubMed  PubMed Central  Google Scholar 

  27. Thakkar SD, Feigen U, Mautner VF. Spinal tumours in neurofibromatosis type 1: an MRI study of frequency, multiplicity and variety. Neuroradiology. 1999;41(9):625–9.

    CAS  PubMed  Google Scholar 

  28. Jinnai T, Koyama T. Clinical characteristics of spinal nerve sheath tumors: analysis of 149 cases. Neurosurgery. 2005;56(3):510–5. discussion 510-515

    PubMed  Google Scholar 

  29. Guillamo JS, Creange A, Kalifa C, Grill J, Rodriguez D, Doz F, Barbarot S, Zerah M, Sanson M, Bastuji-Garin S, Wolkenstein P, Reseau NFF. Prognostic factors of CNS tumours in Neurofibromatosis 1 (NF1): a retrospective study of 104 patients. Brain. 2003;126(Pt 1):152–60.

    PubMed  Google Scholar 

  30. Rosenfeld A, Listernick R, Charrow J, Goldman S. Neurofibromatosis type 1 and high-grade tumors of the central nervous system. Childs Nerv Syst. 2010;26(5):663–7. https://doi.org/10.1007/s00381-009-1024-2.

    Article  PubMed  Google Scholar 

  31. Rasmussen SA, Yang Q, Friedman JM. Mortality in neurofibromatosis 1: an analysis using U.S. death certificates. Am J Hum Genet. 2001;68(5):1110–8. https://doi.org/10.1086/320121.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  32. Lee M, Rezai AR, Freed D, Epstein FJ. Intramedullary spinal cord tumors in neurofibromatosis. Neurosurgery. 1996;38(1):32–7.

    CAS  PubMed  Google Scholar 

  33. Louis DN, Perry A, Reifenberger G, von Deimling A, Figarella-Branger D, Cavenee WK, Ohgaki H, Wiestler OD, Kleihues P, Ellison DW. The 2016 World Health Organization Classification of Tumors of the Central Nervous System: a summary. Acta Neuropathol. 2016;131(6):803–20. https://doi.org/10.1007/s00401-016-1545-1.

    Article  PubMed  Google Scholar 

  34. Gutmann DH, Rasmussen SA, Wolkenstein P, MacCollin MM, Guha A, Inskip PD, North KN, Poyhonen M, Birch PH, Friedman JM. Gliomas presenting after age 10 in individuals with neurofibromatosis type 1 (NF1). Neurology. 2002;59(5):759–61.

    CAS  PubMed  Google Scholar 

  35. Rodriguez FJ, Perry A, Gutmann DH, O'Neill BP, Leonard J, Bryant S, Giannini C. Gliomas in neurofibromatosis type 1: a clinicopathologic study of 100 patients. J Neuropathol Exp Neurol. 2008;67(3):240–9. https://doi.org/10.1097/NEN.0b013e318165eb75.

    Article  PubMed  PubMed Central  Google Scholar 

  36. Mendiratta-Lala M, Kader Ellika S, Gutierrez JA, Patel SC, Jain R. Spinal cord pilomyxoid astrocytoma: an unusual tumor. J Neuroimaging. 2007;17(4):371–4. https://doi.org/10.1111/j.1552-6569.2006.00101.x.

    Article  PubMed  Google Scholar 

  37. Dunn-Pirio AM, Howell E, McLendon RE, Peters KB. Single-Agent Carboplatin for a Rare Case of Pilomyxoid Astrocytoma of the Spinal Cord in an Adult with Neurofibromatosis Type 1. Case Rep Oncol. 2016;9(3):568–73. https://doi.org/10.1159/000449406.

    Article  PubMed  PubMed Central  Google Scholar 

  38. Cheng H, Shan M, Feng C, Wang X. Spinal cord ependymoma associated with neurofibromatosis 1 : case report and review of the literature. J Korean Neurosurg Soc. 2014;55(1):43–7. https://doi.org/10.3340/jkns.2014.55.1.43.

    Article  PubMed  PubMed Central  Google Scholar 

  39. Riffaud L, Vinchon M, Ragragui O, Delestret I, Ruchoux MM, Dhellemmes P. Hemispheric cerebral gliomas in children with NF1: arguments for a long-term follow-up. Childs Nerv Syst. 2002;18(1–2):43–7. https://doi.org/10.1007/s00381-001-0534-3.

    Article  PubMed  Google Scholar 

  40. Mittal A, Meena R, Samar N, Kumar S, Khandelwal A. A Case of Neurofibromatosis Type 1 Associated with Cervical Cord Ependymoma. Int J Curr Res Rev. 2017;9(23):22–4.

    Google Scholar 

  41. 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(1):93–7.

    PubMed  Google Scholar 

  42. Evans DG. Neurofibromatosis type 2 (NF2): a clinical and molecular review. Orphanet J Rare Dis. 2009;4:16. https://doi.org/10.1186/1750-1172-4-16.

    Article  PubMed  PubMed Central  Google Scholar 

  43. Evans DG, Birch JM, Ramsden RT. Paediatric presentation of type 2 neurofibromatosis. Arch Dis Child. 1999;81(6):496–9.

    CAS  PubMed  PubMed Central  Google Scholar 

  44. Rouleau GA, Merel P, Lutchman M, Sanson M, Zucman J, Marineau C, Hoang-Xuan K, Demczuk S, Desmaze C, Plougastel B, et al. Alteration in a new gene encoding a putative membrane-organizing protein causes neuro-fibromatosis type 2. Nature. 1993;363(6429):515–21. https://doi.org/10.1038/363515a0.

    Article  CAS  PubMed  Google Scholar 

  45. Xiao GH, Chernoff J, Testa JR. NF2: the wizardry of merlin. Genes Chromosomes Cancer. 2003;38(4):389–99. https://doi.org/10.1002/gcc.10282.

    Article  CAS  PubMed  Google Scholar 

  46. Cooper J, Giancotti FG. Molecular insights into NF2/Merlin tumor suppressor function. FEBS Lett. 2014;588(16):2743–52. https://doi.org/10.1016/j.febslet.2014.04.001.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  47. Parry DM, MacCollin MM, Kaiser-Kupfer MI, Pulaski K, Nicholson HS, Bolesta M, Eldridge R, Gusella JF. Germ-line mutations in the neurofibromatosis 2 gene: correlations with disease severity and retinal abnormalities. Am J Hum Genet. 1996;59(3):529–39.

    CAS  PubMed  PubMed Central  Google Scholar 

  48. Baser ME, Friedman JM, Wallace AJ, Ramsden RT, Joe H, Evans DG. Evaluation of clinical diagnostic criteria for neurofibromatosis 2. Neurology. 2002;59(11):1759–65.

    CAS  PubMed  Google Scholar 

  49. Evans DG, Raymond FL, Barwell JG, Halliday D. Genetic testing and screening of individuals at risk of NF2. Clin Genet. 2012;82(5):416–24. https://doi.org/10.1111/j.1399-0004.2011.01816.x.

    Article  CAS  PubMed  Google Scholar 

  50. Campian J, Gutmann DH. CNS Tumors in Neurofibromatosis. J Clin Oncol. 2017;35(21):2378–85. https://doi.org/10.1200/JCO.2016.71.7199.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  51. Evans DG, Huson SM, Donnai D, Neary W, Blair V, Newton V, Harris R. A clinical study of type 2 neurofibromatosis. Q J Med. 1992;84(304):603–18.

    CAS  PubMed  Google Scholar 

  52. Moffat DA, Quaranta N, Baguley DM, Hardy DG, Chang P. Management strategies in neurofibromatosis type 2. Eur Arch Otorhinolaryngol. 2003;260(1):12–8. https://doi.org/10.1007/s00405-002-0503-9.

    Article  PubMed  Google Scholar 

  53. 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(9):1288–93.

    CAS  PubMed  PubMed Central  Google Scholar 

  54. Ruggieri M, Iannetti P, Polizzi A, La Mantia I, Spalice A, Giliberto O, Platania N, Gabriele AL, Albanese V, Pavone L. Earliest clinical manifestations and natural history of neurofibromatosis type 2 (NF2) in childhood: a study of 24 patients. Neuropediatrics. 2005;36(1):21–34. https://doi.org/10.1055/s-2005-837581.

    Article  CAS  PubMed  Google Scholar 

  55. Malis LI. Neurofibromatosis type 2 and central neurofibromatosis. Neurosurg Focus. 1998;4(3):e1.

    CAS  PubMed  Google Scholar 

  56. Nowak A, Dziedzic T, Czernicki T, Kunert P, Marchel A. Clinical course and management of intracranial meningiomas in neurofibromatosis type 2 patients. Neurol Neurochir Pol. 2015;49(6):367–72. https://doi.org/10.1016/j.pjnns.2015.08.007.

    Article  PubMed  Google Scholar 

  57. Wentworth S, Pinn M, Bourland JD, Deguzman AF, Ekstrand K, Ellis TL, Glazier SS, McMullen KP, Munley M, Stieber VW, Tatter SB, Shaw EG. 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. https://doi.org/10.1016/j.ijrobp.2008.03.073.

    Article  PubMed  Google Scholar 

  58. Perry A, Giannini C, Raghavan R, Scheithauer BW, Banerjee R, Margraf L, Bowers DC, Lytle RA, Newsham IF, Gutmann DH. 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.

    CAS  PubMed  Google Scholar 

  59. Halliday AL, Sobel RA, Martuza RL. Benign spinal nerve sheath tumors: their occurrence sporadically and in neurofibromatosis types 1 and 2. J Neurosurg. 1991;74(2):248–53. https://doi.org/10.3171/jns.1991.74.2.0248.

    Article  CAS  PubMed  Google Scholar 

  60. Klekamp J, Samii M. Surgery of spinal nerve sheath tumors with special reference to neurofibromatosis. Neurosurgery. 1998;42(2):279–89. discussion 289-290

    CAS  PubMed  Google Scholar 

  61. Li P, Zhao F, Zhang J, Wang Z, Wang X, Wang B, Yang Z, Yang J, Gao Z, Liu P. Clinical features of spinal schwannomas in 65 patients with schwannomatosis compared with 831 with solitary schwannomas and 102 with neurofibromatosis Type 2: a retrospective study at a single institution. J Neurosurg Spine. 2016;24(1):145–54. https://doi.org/10.3171/2015.3.SPINE141145.

    Article  PubMed  Google Scholar 

  62. Mautner VF, Tatagiba M, Lindenau M, Funsterer C, Pulst SM, Baser ME, Kluwe L, Zanella FE. Spinal tumors in patients with neurofibromatosis type 2: MR imaging study of frequency, multiplicity, and variety. AJR Am J Roentgenol. 1995;165(4):951–5. https://doi.org/10.2214/ajr.165.4.7676998.

    Article  CAS  PubMed  Google Scholar 

  63. Aboukais R, Baroncini M, Zairi F, Bonne NX, Schapira S, Vincent C, Lejeune JP. Prognostic value and management of spinal tumors in neurofibromatosis type 2 patients. Acta Neurochir. 2013;155(5):771–7. https://doi.org/10.1007/s00701-012-1590-z.

    Article  PubMed  Google Scholar 

  64. Goutagny S, Kalamarides M. Meningiomas and neurofibromatosis. J Neuro-Oncol. 2010;99(3):341–7. https://doi.org/10.1007/s11060-010-0339-x.

    Article  Google Scholar 

  65. Setzer M, Vatter H, Marquardt G, Seifert V, Vrionis FD. Management of spinal meningiomas: surgical results and a review of the literature. Neurosurg Focus. 2007;23(4):E14. https://doi.org/10.3171/FOC-07/10/E14.

    Article  PubMed  Google Scholar 

  66. Chang UK, Choe WJ, Chung SK, Chung CK, Kim HJ. Surgical outcome and prognostic factors of spinal intramedullary ependymomas in adults. J Neuro-Oncol. 2002;57(2):133–9.

    Google Scholar 

  67. Kalamarides M, Essayed W, Lejeune JP, Aboukais R, Sterkers O, Bernardeschi D, Peyre M, Lloyd SK, Freeman S, Hammerbeck-Ward C, Kellett M, Rutherford SA, Evans DG, Pathmanaban O, King AT. Spinal ependymomas in NF2: a surgical disease? J Neuro-Oncol. 2018;136(3):605–11. https://doi.org/10.1007/s11060-017-2690-7.

    Article  CAS  Google Scholar 

  68. Hoshimaru M, Koyama T, Hashimoto N, Kikuchi H. Results of microsurgical treatment for intramedullary spinal cord ependymomas: analysis of 36 cases. Neurosurgery. 1999;44(2):264–9.

    CAS  PubMed  Google Scholar 

  69. Plotkin SR, O'Donnell CC, Curry WT, Bove CM, MacCollin M, Nunes FP. Spinal ependymomas in neurofibromatosis Type 2: a retrospective analysis of 55 patients. J Neurosurg Spine. 2011;14(4):543–7. https://doi.org/10.3171/2010.11.SPINE10350.

    Article  PubMed  Google Scholar 

  70. Farschtschi S, Merker VL, Wolf D, Schuhmann M, Blakeley J, Plotkin SR, Hagel C, Mautner VF. Bevacizumab treatment for symptomatic spinal ependymomas in neurofibromatosis type 2. Acta Neurol Scand. 2016;133(6):475–80. https://doi.org/10.1111/ane.12490.

    Article  CAS  PubMed  Google Scholar 

  71. von Hippel E. Über eine sehr seltene Erkrankung der Netzhaut. Klin Beobachtungen Arch Ophthalmol. 1904;59(1):83–106.

    Google Scholar 

  72. Lindau A. Zur Frage der Angiomatosis Retinae und ihrer Hirnkomplikationen. Acta Ophthalmol. 1926;4(1–2):193–226.

    Google Scholar 

  73. Maher ER, Yates JR, Harries R, Benjamin C, Harris R, Moore AT, Ferguson-Smith MA. Clinical features and natural history of von Hippel-Lindau disease. Q J Med. 1990;77(283):1151–63.

    CAS  PubMed  Google Scholar 

  74. Maher ER, Iselius L, Yates JR, Littler M, Benjamin C, Harris R, Sampson J, Williams A, Ferguson-Smith MA, Morton N. Von Hippel-Lindau disease: a genetic study. J Med Genet. 1991;28(7):443–7.

    CAS  PubMed  PubMed Central  Google Scholar 

  75. Kley N, Whaley J, Seizinger BR. Neurofibromatosis type 2 and von Hippel-Lindau disease: from gene cloning to function. Glia. 1995;15(3):297–307. https://doi.org/10.1002/glia.440150310.

    Article  CAS  PubMed  Google Scholar 

  76. Kim WY, Kaelin WG. Role of VHL gene mutation in human cancer. J Clin Oncol. 2004;22(24):4991–5004. https://doi.org/10.1200/JCO.2004.05.061.

    Article  CAS  PubMed  Google Scholar 

  77. Barry RE, Krek W. The von Hippel-Lindau tumour suppressor: a multi-faceted inhibitor of tumourigenesis. Trends Mol Med. 2004;10(9):466–72. https://doi.org/10.1016/j.molmed.2004.07.008.

    Article  CAS  PubMed  Google Scholar 

  78. Richard S, Graff J, Lindau J, Resche F. Von Hippel-Lindau disease. Lancet. 2004;363(9416):1231–4. https://doi.org/10.1016/S0140-6736(04)15957-6.

    Article  PubMed  Google Scholar 

  79. Butman JA, Linehan WM, Lonser RR. Neurologic manifestations of von Hippel-Lindau disease. JAMA. 2008;300(11):1334–42. https://doi.org/10.1001/jama.300.11.1334.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  80. Maher ER, Neumann HP, Richard S. von Hippel-Lindau disease: a clinical and scientific review. Eur J Hum Genet. 2011;19(6):617–23. https://doi.org/10.1038/ejhg.2010.175.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  81. Banks RE, Tirukonda P, Taylor C, Hornigold N, Astuti D, Cohen D, Maher ER, Stanley AJ, Harnden P, Joyce A, Knowles M, Selby PJ. Genetic and epigenetic analysis of von Hippel-Lindau (VHL) gene alterations and relationship with clinical variables in sporadic renal cancer. Cancer Res. 2006;66(4):2000–11. https://doi.org/10.1158/0008-5472.CAN-05-3074.

    Article  CAS  PubMed  Google Scholar 

  82. Barontini M, Dahia PL. VHL disease. Best Pract Res Clin Endocrinol Metab. 2010;24(3):401–13. https://doi.org/10.1016/j.beem.2010.01.002.

    Article  CAS  PubMed  Google Scholar 

  83. Woodward ER, Clifford SC, Astuti D, Affara NA, Maher ER. Familial clear cell renal cell carcinoma (FCRC): clinical features and mutation analysis of the VHL, MET, and CUL2 candidate genes. J Med Genet. 2000;37(5):348–53.

    CAS  PubMed  PubMed Central  Google Scholar 

  84. Glasker S. Central nervous system manifestations in VHL: genetics, pathology and clinical phenotypic features. Familial Cancer. 2005;4(1):37–42. https://doi.org/10.1007/s10689-004-5347-6.

    Article  PubMed  Google Scholar 

  85. Glasker S, Bender BU, Apel TW, Natt E, van Velthoven V, Scheremet R, Zentner J, Neumann HP. The impact of molecular genetic analysis of the VHL gene in patients with haemangioblastomas of the central nervous system. J Neurol Neurosurg Psychiatry. 1999;67(6):758–62.

    CAS  PubMed  PubMed Central  Google Scholar 

  86. Ridley M, Green J, Johnson G. Retinal angiomatosis: the ocular manifestations of von Hippel-Lindau disease. Can J Ophthalmol. 1986;21(7):276–83.

    CAS  PubMed  Google Scholar 

  87. Webster AR, Maher ER, Moore AT. Clinical characteristics of ocular angiomatosis in von Hippel-Lindau disease and correlation with germline mutation. Arch Ophthalmol. 1999;117(3):371–8.

    CAS  PubMed  Google Scholar 

  88. Greenwald MJ, Weiss A. Ocular manifestations of the neurocutaneous syndromes. Pediatr Dermatol. 1984;2(2):98–117.

    CAS  PubMed  Google Scholar 

  89. Salazar FG, Lamiell JM. Early identification of retinal angiomas in a large kindred von Hippel-Lindau disease. Am J Ophthalmol. 1980;89(4):540–5.

    CAS  PubMed  Google Scholar 

  90. Wanebo JE, Lonser RR, Glenn GM, Oldfield EH. The natural history of hemangioblastomas of the central nervous system in patients with von Hippel-Lindau disease. J Neurosurg. 2003;98(1):82–94. https://doi.org/10.3171/jns.2003.98.1.0082.

    Article  PubMed  Google Scholar 

  91. Ammerman JM, Lonser RR, Dambrosia J, Butman JA, Oldfield EH. Long-term natural history of hemangioblastomas in patients with von Hippel-Lindau disease: implications for treatment. J Neurosurg. 2006;105(2):248–55. https://doi.org/10.3171/jns.2006.105.2.248.

    Article  PubMed  Google Scholar 

  92. Hanakita S, Koga T, Shin M, Takayanagi S, Mukasa A, Tago M, Igaki H, Saito N. The long-term outcomes of radiosurgery for intracranial hemangioblastomas. Neuro-Oncology. 2014;16(3):429–33. https://doi.org/10.1093/neuonc/not201.

    Article  PubMed  Google Scholar 

  93. Neumann HP, Bausch B, McWhinney SR, Bender BU, Gimm O, Franke G, Schipper J, Klisch J, Altehoefer C, Zerres K, Januszewicz A, Eng C, Smith WM, Munk R, Manz T, Glaesker S, Apel TW, Treier M, Reineke M, Walz MK, Hoang-Vu C, Brauckhoff M, Klein-Franke A, Klose P, Schmidt H, Maier-Woelfle M, Peczkowska M, Szmigielski C, Eng C, Freiburg-Warsaw-Columbus Pheochromocytoma Study Group. Germ-line mutations in nonsyndromic pheochromocytoma. N Engl J Med. 2002;346(19):1459–66. https://doi.org/10.1056/NEJMoa020152.

    Article  CAS  PubMed  Google Scholar 

  94. Steinbach F, Novick AC, Zincke H, Miller DP, Williams RD, Lund G, Skinner DG, Esrig D, Richie JP, deKernion JB, et al. Treatment of renal cell carcinoma in von Hippel-Lindau disease: a multicenter study. J Urol. 1995;153(6):1812–6.

    CAS  PubMed  Google Scholar 

  95. Stein PP, Black HR. A simplified diagnostic approach to pheochromocytoma. A review of the literature and report of one institution's experience. Medicine (Baltimore). 1991;70(1):46–66.

    CAS  Google Scholar 

  96. Sutton MG, Sheps SG, Lie JT. Prevalence of clinically unsuspected pheochromocytoma. Review of a 50-year autopsy series. Mayo Clin Proc. 1981;56(6):354–60.

    CAS  PubMed  Google Scholar 

  97. Tsirlin A, Oo Y, Sharma R, Kansara A, Gliwa A, Banerji MA. Pheochromocytoma: a review. Maturitas. 2014;77(3):229–38. https://doi.org/10.1016/j.maturitas.2013.12.009.

    Article  CAS  PubMed  Google Scholar 

  98. Neumann HP, Eggert HR, Weigel K, Friedburg H, Wiestler OD, Schollmeyer P. Hemangioblastomas of the central nervous system. A 10-year study with special reference to von Hippel-Lindau syndrome. J Neurosurg. 1989;70(1):24–30. https://doi.org/10.3171/jns.1989.70.1.0024.

    Article  CAS  PubMed  Google Scholar 

  99. Chamberlain MC, Tredway TL. Adult primary intradural spinal cord tumors: a review. Curr Neurol Neurosci Rep. 2011;11(3):320–8. https://doi.org/10.1007/s11910-011-0190-2.

    Article  PubMed  Google Scholar 

  100. Baker KB, Moran CJ, Wippold FJ 2nd, Smirniotopoulos JG, Rodriguez FJ, Meyers SP, Siegal TL. MR imaging of spinal hemangioblastoma. AJR Am J Roentgenol. 2000;174(2):377–82. https://doi.org/10.2214/ajr.174.2.1740377.

    Article  CAS  PubMed  Google Scholar 

  101. Cristante L, Herrmann HD. Surgical management of intramedullary hemangioblastoma of the spinal cord. Acta Neurochir. 1999;141(4):333–9. discussion 339-340

    CAS  PubMed  Google Scholar 

  102. Roonprapunt C, Silvera VM, Setton A, Freed D, Epstein FJ, Jallo GI. Surgical management of isolated hemangioblastomas of the spinal cord. Neurosurgery. 2001;49(2):321–7. discussion 327-328

    CAS  PubMed  Google Scholar 

  103. Ohtakara K, Kuga Y, Murao K, Kojima T, Taki W, Waga S. Preoperative embolization of upper cervical cord hemangioblastoma concomitant with venous congestion--case report. Neurol Med Chir (Tokyo). 2000;40(11):589–93.

    CAS  Google Scholar 

  104. Mandigo CE, Ogden AT, Angevine PD, McCormick PC. Operative management of spinal hemangioblastoma. Neurosurgery. 2009;65(6):1166–77. https://doi.org/10.1227/01.NEU.0000359306.74674.C4.

    Article  PubMed  Google Scholar 

  105. Lonser RR, Weil RJ, Wanebo JE, DeVroom HL, Oldfield EH. Surgical management of spinal cord hemangioblastomas in patients with von Hippel-Lindau disease. J Neurosurg. 2003;98(1):106–16. https://doi.org/10.3171/jns.2003.98.1.0106.

    Article  PubMed  Google Scholar 

  106. Selch MT, Tenn S, Agazaryan N, Lee SP, Gorgulho A, De Salles AA. Image-guided linear accelerator-based spinal radiosurgery for hemangioblastoma. Surg Neurol Int. 2012;3:73. https://doi.org/10.4103/2152-7806.98386.

    Article  PubMed  PubMed Central  Google Scholar 

  107. Sardi I, Sanzo M, Giordano F, Buccoliero AM, Mussa F, Arico M, Genitori L. Monotherapy with thalidomide for treatment of spinal cord hemangioblastomas in a patient with von Hippel-Lindau disease. Pediatr Blood Cancer. 2009;53(3):464–7. https://doi.org/10.1002/pbc.22065.

    Article  PubMed  Google Scholar 

  108. Madhusudan S, Deplanque G, Braybrooke JP, Cattell E, Taylor M, Price P, Tsaloumas MD, Moore N, Huson SM, Adams C, Frith P, Scigalla P, Harris AL. Antiangiogenic therapy for von Hippel-Lindau disease. JAMA. 2004;291(8):943–4. https://doi.org/10.1001/jama.291.8.943.

    Article  CAS  PubMed  Google Scholar 

  109. Hrisomalos FN, Maturi RK, Pata V. Long-term use of intravitreal bevacizumab (avastin) for the treatment of von hippel-lindau associated retinal hemangioblastomas. Open Ophthalmol J. 2010;4:66–9. https://doi.org/10.2174/1874364101004010066.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

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Authors and Affiliations

  1. Department of Neurosurgery, University of Tennessee Health Science Center, Memphis, TN, USA

    Frederick A. Boop, Jimmy Ming-Jung Chuang & Chenran Zhang

  2. Department of Neurosurgery, Le Bonheur Children’s Hospital, Memphis, TN, USA

    Frederick A. Boop, Jimmy Ming-Jung Chuang & Chenran Zhang

  3. Semmes Murphey, Memphis, TN, USA

    Frederick A. Boop

  4. Kaohsiung Chang Gung Memorial Hospital, Kaohsiung, Taiwan

    Jimmy Ming-Jung Chuang

  5. Xinhua Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China

    Chenran Zhang

  6. Changzheng Hospital, Second Military Medical University, Shanghai, China

    Chenran Zhang

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  1. Frederick A. Boop
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Editors and Affiliations

  1. Department of Neurosurgery, University of Tennessee Health Science Center, Memphis, TN, USA

    Kenan I. Arnautović

  2. Department of Neurosurgery, Warren Alpert School of Medicine at Brown University, Rhode Island Hospital, Providence, RI, USA

    Ziya L. Gokaslan

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Boop, F.A., Chuang, J.MJ., Zhang, C. (2019). Spinal Cord Tumors in Neurofacomatosis. In: Arnautović, K.I., Gokaslan, Z.L. (eds) Spinal Cord Tumors. Springer, Cham. https://doi.org/10.1007/978-3-319-99438-3_12

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