Display options
Share it on
Full text links
Springer

Hum Genet. 1996 May;97(5):638-41. doi: 10.1007/BF02281875.

Analysis of the neurofibromatosis type 2 gene in different human tumors of neuroectodermal origin.

Human genetics

L R De Vitis, A Tedde, F Vitelli, F Ammannati, P Mennonna, P Bono, B Grammatico, P Grammatico, P Radice, U Bigozzi, E Montali, L Papi

Affiliations

  1. Medical Genetics Unit, Department of Clinical Physiopathology, University of Florence, Italy.

PMID: 8655145 DOI: 10.1007/BF02281875

Abstract

The autosomal dominant syndrome neurofibromatosis type 2 (NF2) is characterized by the development of bilateral vestibular schwannomas, meningiomas, ependymomas and gliomas. The NF2 gene, recently isolated from chromosome 22, is mutated in both sporadic and NF2 tumors such as schwannomas, meningiomas and ependymomas. Mutations of the gene have been described not only in the neoplasms usually associated with NF2, but also in 30% of the melanomas and 41 % of the mesotheliomas analyzed. In particular, the finding of mutations in melanomas supports the hypothesis that the NF2 gene is involved in the genesis of several tumor types that arise from the embryonic neural crest. In this study we examined, by single-strand conformational polymorphism (SSCP) analysis, 41 tumors of the central nervous system (11 schwannomas and 30 gliomas), 19 melanomas and 15 Merkel cell carcinoma specimens for mutations in the coding sequence of the NF2 gene. We found three inactivating mutations of the NF2 gene in schwannomas. No alterations of the gene were detected by SSCP analysis of the other tumors. These results confirm the role of NF2 in pathogenesis of schwannomas, but do not define its significance in the genesis of the other neuroectodermal tumors studied.

Cited by

References

  1. Genes Chromosomes Cancer. 1994 Sep;11(1):7-14 - PubMed
  2. Hum Mol Genet. 1994 May;3(5):813-6 - PubMed
  3. Cancer Res. 1995 Jan 1;55(1):20-3 - PubMed
  4. Am J Hum Genet. 1994 Jun;54(6):1022-9 - PubMed
  5. Hum Mol Genet. 1994 Mar;3(3):413-9 - PubMed
  6. Nat Genet. 1994 Feb;6(2):180-4 - PubMed
  7. Cancer. 1978 Nov;42(5):2311-21 - PubMed
  8. Cancer Genet Cytogenet. 1991 Jul 1;54(1):109-13 - PubMed
  9. J Med Genet. 1992 Dec;29(12 ):841-6 - PubMed
  10. Nature. 1994 Apr 21;368(6473):753-6 - PubMed
  11. Hum Mol Genet. 1994 Feb;3(2):347-50 - PubMed
  12. Hum Mol Genet. 1994 Jun;3(6):885-91 - PubMed
  13. Nature. 1993 Jun 10;363(6429):515-21 - PubMed
  14. Cancer Res. 1994 Jan 1;54(1):45-7 - PubMed
  15. Nat Genet. 1994 Feb;6(2):185-92 - PubMed
  16. Hum Genet. 1996 May;97(5):632-7 - PubMed
  17. Cell. 1993 Mar 12;72(5):791-800 - PubMed
  18. Arch Dermatol. 1972 Jan;105(1):107-10 - PubMed
  19. Hum Mol Genet. 1994 Apr;3(4):559-64 - PubMed
  20. Int J Cancer. 1992 Jul 9;51(5):703-6 - PubMed
  21. Trends Genet. 1993 Apr;9(4):138-41 - PubMed
  22. Hum Genet. 1995 Mar;95(3):347-51 - PubMed
  23. Hum Mol Genet. 1994 Jan;3(1):147-51 - PubMed
  24. Hum Mol Genet. 1994 Apr;3(4):565-8 - PubMed
  25. Cancer Res. 1988 Oct 1;48(19):5546-51 - PubMed
  26. Science. 1994 Apr 15;264(5157):436-40 - PubMed
  27. Cancer Res. 1995 Mar 15;55(6):1227-31 - PubMed
  28. Biochim Biophys Acta. 1994 Dec 30;1198(2-3):197-213 - PubMed

MeSH terms

Publication Types

LinkOut - more resources