Vestibular schwannoma in a patient with neurofibromatosis type 1: clinical report and literature review

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• 作者：Aamira Huq (1)
  Maira Kentwell (1)
  Amanda Tirimacco (2)
  Jacqueline Rossini (2)
  Lesley Rawlings (2)
  Ingrid Winship (1) (3)
  
  1. Clinical Genetics and Familial Cancer Centre ; The Royal Melbourne Hospital ; University of Melbourne ; Parkville ; Australia
  2. Familial Cancer Section ; Department of Genetics and Molecular Pathology ; IMVS ; Adelaide ; Australia
  3. Department of Medicine ; The Royal Melbourne Hospital ; University of Melbourne ; Parkville ; Australia
  
• 关键词：Neurofibromatosis ; Vestibular schwannoma ; NF1 and NF2
• 刊名：Familial Cancer
• 出版年：2015
• 出版时间：March 2015
• 年：2015
• 卷：14
• 期：1
• 页码：157-160
• 全文大小：160 KB
• 参考文献：1. NF1 diagnostic guidelines. In: National Institututes of health consensus development conference, July 13鈥?5, 1987, Bethesda
  2. Hoa M, Slattery WH III (2012) Neurofibromatosis 2. Otolaryngol Clin N Am 45(2):315鈥?32 (viii)
  3. Xu, GF (1990) The neurofibromatosis type 1 gene encodes a protein related to GAP. Cell 62: pp. 599-608 CrossRef
  4. Trofatter, JA (1993) A novel moesin-, ezrin-, radixin-like gene is a candidate for the neurofibromatosis 2 tumor suppressor. Cell 72: pp. 791-800 CrossRef
  5. Rouleau, GA (1990) Flanking markers bracket the neurofibromatosis type 2 (NF2) gene on chromosome 22. Am J Hum Genet 46: pp. 323-328
  6. Sayed, AK (1987) Malignant schwannoma in siblings with neurofibromatosis. Cancer 59: pp. 829-835 CrossRef
  7. Klose, A (1998) Selective disactivation of neurofibromin GAP activity in neurofibromatosis type 1. Hum Mol Genet 7: pp. 1261-1268 CrossRef
  8. Spits, C (2005) Preimplantation genetic diagnosis for neurofibromatosis type 1. Mol Hum Reprod 11: pp. 381-387 CrossRef
  9. Sherman, L (1997) Interdomain binding mediates tumor growth suppression by the NF2 gene product. Oncogene 15: pp. 2505-2509 CrossRef
  10. Jacoby, LB (1994) Exon scanning for mutation of the NF2 gene in schwannomas. Hum Mol Genet 3: pp. 413-419 CrossRef
  11. Ferner, RE (2010) The neurofibromatoses. Pract Neurol 10: pp. 82-93 CrossRef
  12. Williams, VC (2009) Neurofibromatosis type 1 revisited. Pediatrics 123: pp. 124-133 CrossRef
  13. Bollag, G (1996) Loss of NF1 results in activation of the Ras signaling pathway and leads to aberrant growth in haematopoietic cells. Nat Genet 12: pp. 144-148 CrossRef
  14. Viskochil D (2002) Genetics of neurofibromatosis 1 and the NF1 gene. J Child Neurol 17(8):562鈥?70; discussion 571鈥?72, 646鈥?51
  15. Rinaldi, V (2012) Facial nerve outcome after vestibular schwannoma surgery: our experience. J Neurol Surg B Skull Base 73: pp. 21-27 CrossRef
  16. Mohyuddin, A (2002) Molecular genetic analysis of the NF2 gene in young patients with unilateral vestibular schwannomas. J Med Genet 39: pp. 315-322 CrossRef
  17. Evans, DG (2007) Should NF2 mutation screening be undertaken in patients with an apparently isolated vestibular schwannoma?. Clin Genet 71: pp. 354-358 CrossRef
  18. Aghi, M (2006) Unilateral vestibular schwannoma with other neurofibromatosis type 2-related tumors: clinical and molecular study of a unique phenotype. J Neurosurg 104: pp. 201-207 CrossRef
  19. Evans, DG (2007) Mosaicism in neurofibromatosis type 2: an update of risk based on uni/bilaterality of vestibular schwannoma at presentation and sensitive mutation analysis including multiple ligation-dependent probe amplification. J Med Genet 44: pp. 424-428 CrossRef
  20. Evans, DG (2008) What are the implications in individuals with unilateral vestibular schwannoma and other neurogenic tumors?. J Neurosurg 108: pp. 92-96 CrossRef
  
• 刊物类别：Medicine
• 刊物主题：Medicine & Public Health
  Oncology
  Human Genetics
  Epidemiology
  
• 出版者：Springer Netherlands
• ISSN：1573-7292

文摘

We describe a young patient with typical neurofibromatosis type 1 on the basis of a mutation in the NF1 gene, who was diagnosed with a unilateral vestibular schwannoma caused by a somatic mutation in the NF2 gene. This combination has not been described before. This report highlights the requirement for ongoing surveillance regarding other manifestations of neurofibromatosis type 2 in such patients, as mosaicism cannot be ruled out. In addition to the NF1 mutation, the NF2 mutation should be considered in such cases if pre-implantation genetic diagnosis in undertaken.