Hostname: page-component-586b7cd67f-vdxz6 Total loading time: 0 Render date: 2024-11-25T20:17:40.055Z Has data issue: false hasContentIssue false
  • English
  • Français

The molecular genetics of vestibular schwannoma

Published online by Cambridge University Press:  29 June 2007

David A. Moffat  and
Richard M. Irving
David A. Moffat*
Affiliation:
Department of Otoneurological and Skull Base Surgery. Addenbrooke's Hospital, Cambridge.
Richard M. Irving
Affiliation:
Department of Otoneurological and Skull Base Surgery. Addenbrooke's Hospital, Cambridge.
*
Address for correspondence: Mr D. A. Moffat, B.Sc, F.R.C.S., Department of Otolaryngology, Clinic 10, Addenbrooke's Hospital. Hills Road,Cambridge CB2 2QQ. Fax: 01223 217559
Get access Rights & Permissions [Opens in a new window]

Abstract

Vestibular schwannoma occurs both as a sporadic tumour and in the dominantly inherited familial cancer syndrome neurofibromatosis type 2 (NF2). The gene for NF2 has recently beenisolated on chromosome 22, and the demonstration of inactivating germline mutations in NF2 patients and NF2 associated tumours suggests that it acts as a tumour suppressor. The results of recent research in Cambridge suggest that somatic mutations of the NF2 tumour suppressor gene are a critical step in the pathogenesis of both familial and indeed non-familial unilateral sporadic vestibular schwannoma and that the mechanism of tumourigenesis complies with the ‘two-hit’ model. This paper represents a brief review of the current status of molecular biology in relation to vestibular schwannoma in particular and is discussed in relation to the molecular pathology of skull base tumours as a whole.

Keywords

Vestibular schwannomageneticsbiochemical
Type
Review Articles
Information
The Journal of Laryngology & Otology , Volume 109 , Issue 5 , May 1995 , pp. 381 - 384
Copyright
Copyright © JLO (1984) Limited 1995

Access options

Get access to the full version of this content by using one of the access options below. (Log in options will check for institutional or personal access. Content may require purchase if you do not have access.)

References

Bretscher, A. (1989) Rapid phosphorylation and reorganization of ezrin and spectrin accompany morphological changes induced in A-431 cells by epidermal growth factor. Journal of CellularBiology 108: 921–930.CrossRefGoogle ScholarPubMed
Evans, D. R., Huson, S. M., Neary, W., Blair, V., leare, D., Newton, V., Strachan, T., Ramsden, R. T., Donnai, D., Harrie, R. (1992) A genetic study of type 2 neurofibromatosis in the United Kingdom. 1. Prevalence, mutation rate, fitness, and confirmation of maternal transmission effect on severity. Journal of Medical Genetics 25: 841–846.CrossRefGoogle Scholar
Fazioli, F, Wong, W. T., Ilirich, S. J., Sakaguchi, K., Appella, E., Di Fiori, P. P. (1993) The ezrin-like family of tyrosine kinase substrates: receptor-specific pattern of tyrosine phophorylation and relationship to malignant transformation. Oncogene 8: 1335–1345.Google Scholar
Irving, R. M., Moffat, D. A., Hardy, D. G., Barton, D. F., Xuereb, J. H., Maher, E. R. (1993) Molecular genetic analysis of the mechanism of tumorigenesis in acoustic neuroma. Archives of Otolaryngology, Head and Neck Surgery 119: 1222–1228.CrossRefGoogle ScholarPubMed
Irving, R. M., Moffat, D. A., Hardy, D. G., Barton, D. F., Xuereb, J. H., Maher, E. R. (1994) Somatic NF2 gene mutations in familial and non-familial vestibular schwannoma. Human Molecular Genetics 3: 347–350.CrossRefGoogle ScholarPubMed
Irving, R. M., Moffat, D. A., Maher, E. R. (1995) Genetics of familial and non-familial skull base tumours. Clinical Otolaryngology 20: 5–11.CrossRefGoogle ScholarPubMed
Irving, R. M., Moffat, D. A. (1995) The molecular pathology of skull base tumours In Recent Advances in Otolaryngology number 7. Ch. 12, (Moffat, D. A., ed). Churchill Livingstone, Edinburgh, pp 191–206.Google Scholar
Jacoby, L. B., MacCollin, M., Louis, D. N. (1994) Exon scanning for mutation of the NF2 gene in schwannomas Human Molecular Genetics 3: 413–419.Google Scholar
Knudson, A. G. (1971) Mutation and cancer: statistical study of retinoblastoma. Proceedings of the National Academy of Science 68: 820–823.CrossRefGoogle ScholarPubMed
Moffat, D. A., Hardy, D. G., Irving, R. M., Viani, L., Beynon, G. J., Baguley, D. M. (1995) Referral patterns of vestibular schwannoma. Clinical Otolaryngology 20: 80–83.CrossRefGoogle Scholar
Rouleau, G. A., Merel, P., Lutchman, M., Sansom, M., Zucman, J., Marineau, C., Hoangxuan, K., Demeczuk, S., Desmaze, C., Plougastel, B., Puist, S. M., Lenoir, G., Bijisma, E.Fashold Dumanski, J., de Jong, P., Parry, D., Eldridge, D., Aurias, A., Delattre, O., Thomas, G. (1993) Alteration in a new gene encoding a putative membraneorganising protein causes neurofibromatosis type 2. Nature 63: 515–521.CrossRefGoogle Scholar
Seizinger, B. R., Martuza, R. L., Gusella, J. F. (1986) Loss of genes on chromosome 22 in tumorigenesis of human acoustic neuroma. Nature 322: 644–647.CrossRefGoogle ScholarPubMed
Tos, M., Thomsen, J. (1984) pidemiology of acoustic neurommas Journal of Laryngology and Otology 98: 685–692.CrossRefGoogle Scholar
Troffater, J. A., MacCollin, M. M., Rutler, J. L., Murrell, J. R., Duyao, M. R., Parry, D.M. Eldridge, R.Kley, N.Menon, A. G., Pulsaki, K., Hasse, V. H., Ambrose, C. M., Munroe, D.Bove, C., Haines, J. L., Martuza, R. L., MacDonald, M. F., Seizinger, B. R.Short, M. R., Buckler, A. J., Gusella, J. F. (1993) A novel moesin-, ezrin-, radixin-like gene is a candidate for the neurofibromatosis type 2 tumour suppressor. Cell 72: 1–20.Google Scholar