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Neurofibromatosis 1

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Book cover Neurofibromatoses in Clinical Practice

Abstract

Neurofibromatosis 1(NF1) is a common autosomal dominant condition that primarily involves the skin and the nervous system.

People with NF1 have an increased risk of developing benign and malignant tumors.

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References

  1. Tilesius von Tilenau WG. Historia pathologica singularis cutis turpitudinis. Jo Godfredi Rheinhardi viri Lannorum. Leipzig, Germany: SL Crusius; 1793.

    Google Scholar 

  2. von Recklinghausen FD. über die multiplen fibrome der haut und ihre beziehung zu den multiplen neuromen. A Hirschwald, Berlin; 1882.

    Google Scholar 

  3. National Institutes of Health Consensus Development Conference Statement. Neurofibromatosis. Arch Neurol Chicago. 1988;45:575-578.

    Article  Google Scholar 

  4. Huson SM, Compston DAS, Clark P, et al. A genetic study of von Recklinghausen neurofibromatosis in south east Wales. 1. Prevalence, fitness, mutation rate, and effect of parental transmission on severity. J Med Genet. 1989;26:704-711.

    Article  PubMed  CAS  Google Scholar 

  5. Ferner RE. Neurofibromatosis 1 and neurofibromatosis 2: a twenty first century perspective. Lancet Neurol. 2007;6:340-351.

    Article  PubMed  Google Scholar 

  6. Ruggieri M, Huson SM. The clinical and diagnostic implications of mosaicism in the neurofibromatoses. J Neurol. 2001;56:1433-1443.

    CAS  Google Scholar 

  7. Viskochil D, Buchberg AN, Xu G, et al. Deletions and a translocation interrupt a cloned gene at the neurofibromatosis type 1 locus. Cell. 1990;62:1887-1892.

    Article  Google Scholar 

  8. Wallace MR, Marchuk DA, Anderson LB, et al. Type 1 neurofibromatosis gene: identification of a larger transcript disrupted in three NG1 patients. Science. 1990;249:181-186.

    Article  PubMed  CAS  Google Scholar 

  9. Xu GF, O’Connell P, Viskochil D, et al. The neurofibromatosis type 1 gene encodes a protein related to GAP. Cell. 1990;62:599-608.

    Article  PubMed  CAS  Google Scholar 

  10. Johannessen CM, Reczek EE, James M, et al. The NF1 tumour suppressor critically regulates TSC2 and mTOR. Proc Natl Acad Sci USA. 2005;102:8573-8578.

    Article  PubMed  CAS  Google Scholar 

  11. Huson SM, Harper PS, Compston DAS. Von Recklinghausen neurofibromatosis: clinical and population study in south east Wales. Brain. 1988;111:55-81.

    Article  Google Scholar 

  12. Brems H, Chmara M, Sahbatou M, et al. Germline loss of function mutations in SPRED1 cause a neurofibromatosis 1 – like phenotype. Nat Genet. 2007;39:1120-1126.

    Article  PubMed  CAS  Google Scholar 

  13. Ferner RE, Huson SM, Thomas N, et al. Guidelines for the diagnosis and management of individuals with neurofibromatosis 1. J Med Genet. 2007;44:81-88.

    Article  PubMed  CAS  Google Scholar 

  14. Cambiaghi S, Restano L, Caputo R. Juvenile xanthogranulomas associated with neurofibromatosis 1: 14 patients without evidence of haematologic malignancies. Paediatr Dermatol. 2004;21:97-101.

    Article  Google Scholar 

  15. De Smet L, Sciot R, Legius E. Multifocal glomus tumours of the fingers in two patients with neurofibromatosis type 1. J Med Genet. 2002;39:e45.

    Article  PubMed  Google Scholar 

  16. Schindeler A, Little DG. Recent insights into bone development, homeostasis, and repair in type 1 neurofibromatosis (NF1). Bone. 2008;42:616-622.

    Article  PubMed  CAS  Google Scholar 

  17. Ferner RE. The neurofibromatoses. Pract Neurol. 2010;10:82-93.

    Article  PubMed  Google Scholar 

  18. Crawford AH Jr, Bagamery N. Osseous manifestations of neurofibromatosis in childhood. J Pediatr Orthop. 1986;6:72-88.

    Article  PubMed  Google Scholar 

  19. Cnossen MH, Moons KG, Garssen MP, et al. Minor disease features in neurofibromatosis type 1 (NF1) and their possible value in diagnosis of NF1 in children < or =6 years and clinically suspected of having NF1. Neurofibromatosis team of Sophia Children’s Hospital. J Med Genet. 1998;35:624-627.

    Article  PubMed  CAS  Google Scholar 

  20. Tucker T, Schnabel C, Hartmann M, et al. Bone health and fracture rate in individuals with neurofibromatosis 1 (NF1). J Med Genet. 2009;46:259-265.

    Article  PubMed  CAS  Google Scholar 

  21. Howlett DC, Farrugia MM, Ferner RE, et al. Multiple lower limb non-ossifying neurofibromas in siblings with neurofibromatosis. Eur J Radiol. 1998;26:280-283.

    Article  PubMed  CAS  Google Scholar 

  22. Casselman ES, Mandell GA. Vertebral scalloping in neurofibromatosis. Radiology. 1979;131:89-94.

    PubMed  CAS  Google Scholar 

  23. Kimura M, Kamata Y, Matsumoto K, et al. Electron microscopical study on the tumour of von Recklinghausen’s neurofibromatosis. Acta Pathol Jpn. 1974;24:79-91.

    PubMed  CAS  Google Scholar 

  24. Lammert M, Mautner VF, Kluwe L. Do hormonal contraceptives stimulate growth of neurofibromas? A survey on 59 NF1 patients. BMC Cancer. 2005;5:16.

    Article  PubMed  Google Scholar 

  25. Evans DGR, Huson S, Donnai D, et al. A clinical study of type 2 neurofibromatosis. Q J Med. 1992;84:603-618.

    PubMed  CAS  Google Scholar 

  26. MacCollin M, Chiocca EA, Evans DG, et al. Diagnostic criteria for Schwannomatosis. Neurology. 2005;64:1838-1845.

    Article  PubMed  CAS  Google Scholar 

  27. Sharif S, Moran A, Huson SM, et al. Women with neurofibromatosis 1 are at a moderately increased risk of developing breast cancer and should be considered for early screening. J Med Genet. 2007;44:481-484.

    Article  PubMed  CAS  Google Scholar 

  28. Leonard JR, Ferner RE, Thomas N, et al. Cervical cord compression from plexiform neurofibromas in neurofibromatosis 1. J Neurol Neurosurg Psychiatry. 2007;78:1404-1406.

    Article  PubMed  CAS  Google Scholar 

  29. Mautner VF, Asuagbor FA, Dombi E, et al. Assessment of benign tumour burden by whole-body MRI in patients with neurofibromatosis 1. Neuro Oncol. 2008;10:593-598.

    Article  PubMed  Google Scholar 

  30. Evans DG, Baser ME, McGraughran J, et al. Malignant peripheral nerve sheath tumours in neurofibromatosis 1. J Med Genet. 2002;39:311-314.

    Article  PubMed  CAS  Google Scholar 

  31. Ferner RE, Gutmann D. International Consensus Group Statement of the management of malignant peripheral nerve sheath tumours in neurofibromatosis 1. Cancer Res. 2002;62:1573-1577.

    PubMed  CAS  Google Scholar 

  32. Ferner RE, Golding JF, Smith M, et al. [18F] 2-fluoro-2-deoxy-D-glucose positron emission tomography (FDG PET) as a diagnostic tool for neurofibromatosis 1 (NF1) associated malignant peripheral nerve sheath tumours (MPNSTs): a long-term clinical study. Ann Oncol. 2008;19:390-394.

    Article  PubMed  CAS  Google Scholar 

  33. Ferner RE, Hughes RA, Hall SM, et al. Neurofibromatous neuropathy in neurofibromatosis 1 (NF1). J Med Genet. 2004;41:837-841.

    Article  PubMed  CAS  Google Scholar 

  34. North K, Riccardi V, Samango-Sprouse C, et al. Cognitive function and academic performance in NF1: consensus statement from the NF1 cognitive disorders task force. Neurology. 1997;48:1121-1127.

    Article  PubMed  CAS  Google Scholar 

  35. Costa RM, Silva AJ. Molecular and cellular mechanisms underlying the cognitive deficits associated with neurofibromatosis 1. J Child Neurol. 2002;17:622-626.

    Article  PubMed  Google Scholar 

  36. Krab LC, de Goede-Bolder A, Aarsen FK, et al. Effect of simvastatin on cognitive functioning in children with neurofibromatosis type 1: a randomised controlled trial. JAMA. 2008;300:287-294.

    Article  PubMed  CAS  Google Scholar 

  37. Créange A, Zeller J, Rostaing-Rigattieri S, et al. Neurological complications of neurofibromatosis type 1 in adulthood. Brain. 1999;122:473-481.

    Article  PubMed  Google Scholar 

  38. Gill DS, Hyman SL, Steinberg A, North KN. Age-related findings on MRI in neurofibromatosis type 1. Pediatr Radiol. 2006;36:1048-1056.

    Article  PubMed  Google Scholar 

  39. Hyman SL, Gill DS, Shores EA, et al. T2 hyperintensities in children with neurofibromatosis type 1 and their relationship to cognitive functioning. J Neurol Neurosurg Psychiatry. 2007;78:1088-1091.

    Article  PubMed  Google Scholar 

  40. Listernick R, Ferner RE, Liu GT, et al. Optic pathway gliomas in neurofibromatosis-1: controversies and recommendations. Ann Neurol. 2007;61:189-198.

    Article  PubMed  CAS  Google Scholar 

  41. Listernick R, Ferner RE, Piersall L, et al. Late-onset optic pathway tumours in children with neurofibromatosis 1. Neurology. 2004;63:194-196.

    Article  Google Scholar 

  42. Sharif S, Ferner R, Birch JM, et al. Second primary tumours in neurofibromatosis 1 patients treated for optic glioma: substantial risks after radiotherapy. J Clin Oncol. 2006;24:2570-2575.

    Article  PubMed  Google Scholar 

  43. Packer RJ, Alter J, Allen J, et al. Carboplatin and vincristine chemotherapy for children with newly diagnosed progressive low-grade gliomas. J Neurosurg. 1997;86:747-754.

    Article  PubMed  CAS  Google Scholar 

  44. Dasgupta B, Yi Y, Chen DY, et al. Proteomic analysis reveals hyper-activation of the mammalian target of rapacmycin pathway in neurofibromatosis 1-associated human and mouse brain tumours. Cancer Res. 2005;1:2755-2760.

    Article  Google Scholar 

  45. Schonauer C, Tessitore E, Frascadore L, et al. Lumbosacral dural ectasia in type 1 neurofibromatosis. Report of two cases. Neurosurg Sci. 2000;44:165-168.

    CAS  Google Scholar 

  46. Vivarelli R, Grosso S, Calabrese F. Epilepsy in neurofibromatosis 1. J Child Neurol. 2003;18:338-342.

    Article  PubMed  Google Scholar 

  47. Johnson MR, Ferner RE, Bobrow M, et al. Detailed analysis of the oligodendrocyte myelin glycoprotein gene in four patients with neurofibromatosis 1 and primary progressive multiple sclerosis. J Neurol Neurosurg Psychiatry. 2000;8:643-646.

    Article  Google Scholar 

  48. Rea D, Brandsema JF, Armstrong D. Cerebral arteriopathy in children with neurofibromatosis type 1. Pediatrics. 2009;124:e476-e483.

    Article  PubMed  Google Scholar 

  49. Rosser TL, Vezina G, Packer RT. Cerebrovascular abnormalities in a population of children with neurofibromatosis type 1. Neurology. 2005;64:553-555.

    Article  PubMed  Google Scholar 

  50. Friedman JM, Arbiser J, Epstein JA, et al. Cardiovascular disease in neurofibromatosis 1: a report of the NF1 Cardiovascular Task Force. Genet Med. 2003;4:105-111.

    Article  Google Scholar 

  51. Lisch K. Ueber beteiligung der augen, insbesondere das vorkommen von irisknotchen bei der neurofibromatose (Recklinghausen). Z Augenheilkunde. 1937;93:137-143.

    Google Scholar 

  52. Srinivasan A, Krishnamurthy G, Fontalvo-Herazo L, et al. Spectrum of renal findings in paediatric fibromuscular dysplasia and neurofibromatosis type 1. Pediatr Radiol. 2010 Oct 16. Epub ahead of print.

    Google Scholar 

  53. Bausch B, Borozdin W, Neumann H, et al. Clinical and genetic characteristics of patients with neurofibromatosis type 1 and phaeochromocytoma. NEJM. 2006;354:2729-2731.

    Article  PubMed  CAS  Google Scholar 

  54. Miettinen M, Fetsch JF, Sobin LH, et al. Gastrointestinal stromal tumours in patients with neurofibromatosis 1: a clinicopathologic and molecular genetic study of 45 cases. Am J Surg Pathol. 2006;30:90-96.

    Article  PubMed  Google Scholar 

  55. Hough DR, Usar MC, Chan A, et al. Von Recklinghausen’s disease associated with gastrointestinal carcinoid tumours. Cancer. 1983;51:2206-2208.

    Article  PubMed  CAS  Google Scholar 

  56. Verlinsky Y, Rechitsky S, Verlinsky O, et al. Preimplantation diagnosis for neurofibromatosis. Reprod Biomed Online. 2002;4:218-222.

    Article  PubMed  Google Scholar 

  57. Maertens O, De Schepper S, Vandesompele J, et al. Molecular dissection of isolated disease features in mosaic neurofibromatosis type 1. Am J Hum Genet. 2007;81:243-251.

    Article  PubMed  CAS  Google Scholar 

  58. Upadhyaya M. Neurofibromatosis type 1: diagnosis and recent advances. Expert Opin Med Diagn. 2010;4:307-322.

    Article  CAS  Google Scholar 

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Authors and Affiliations

  1. Department of Neurology, Guy’s and St. Thomas’ NHS Foundation Trust, London, UK

    Rosalie E. Ferner (Consultant Neurologist)

  2. Department of Clinical Neuroscience, Institute of Psychiatry, King’s College, London, UK

    Rosalie E. Ferner (Consultant Neurologist)

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  1. Rosalie E. Ferner
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Ferner, R.E. (2011). Neurofibromatosis 1. In: Neurofibromatoses in Clinical Practice. Springer, London. https://doi.org/10.1007/978-0-85729-629-0_1

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  • DOI: https://doi.org/10.1007/978-0-85729-629-0_1

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