Somatic neurofibromatosis type 2 gene mutations and growth characteristics in vestibular schwannoma

American Journal of Otology

Volumn 18, Issue 6, 1997, Pages 754-760

  Irving, Richard M ^a,c   Harada, Takehiko ^a   Moffat, David A ^a   Hardy, David G ^a   Whittaker, Joanne L ^a   Xuereb, John H ^b   Maher, Eamonn R ^a  

^a ADDENBROOKE S HOSPITAL   (United Kingdom)

^b UNIVERSITY OF CAMBRIDGE   (United Kingdom)

^c QUEEN ELIZABETH HOSPITAL   (United Kingdom)

Author keywords

Acoustic neuroma; Genetics; Growth rate; NF2 gene; Vestibular schwannoma

Indexed keywords

ARTICLE; CARCINOGENESIS; GENE MUTATION; GROWTH RATE; HUMAN; MAJOR CLINICAL STUDY; NEURILEMOMA; NEUROFIBROMATOSIS; PRIORITY JOURNAL; TUMOR GROWTH; VESTIBULAR NERVE;

ADULT; AGED; CODON; CRANIAL NERVE NEOPLASMS; DNA, NEOPLASM; EXONS; GENE DELETION; HUMANS; MIDDLE AGED; NEOPLASM CIRCULATING CELLS; NEUROFIBROMATOSIS 2; NEUROMA, ACOUSTIC; POINT MUTATION; POLYMORPHISM, GENETIC; PROLIFERATING CELL NUCLEAR ANTIGEN;

EID: 0030683547     PISSN: 01929763     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (39)

1. Tos M, Thomsen J. Epidemiology of acoustic neuromas. J Laryngol Otol 1984;98:685-92.
2. von Recklinghausen F. Uber die multiplen fibroma der haut und ihre beziehung zu den multiplen neuromen. Berlin: A Hirschwald, 1882.
3. Seizinger BR, Rouleau GA, Ozelius LG, et al. Genetic linkage of von Recklinghausen neurofibromatosis to the nerve growth factor receptor gene. Cell 1987;49:489-594.
4. Rouleau GA, Wertelecki W, Haines JL, et al. Genetic linkage analysis of bilateral acoustic neurofibromatosis to a DNA marker on chromosome 22. Nature 1987;329:246-8.
5. Troffater JA, MacCollin MM, Rutler JL, et al. A novel Moesin-, Ezrin-, Radixin-like gene is a candidate for the neurofibromatosis type 2 tumour suppressor. Cell 1993;72:1-20.
6. Rouleau GA, Merel P, Lutchman M, et al. Alteration in a new gene encoding a putative membrane-organizing protein causes neurofibromatosis type 2. Nature 1993;363:515-21.
7. Irving RM, Moffat DA, Hardy DG, et al. Somatic NF2 gene mutations in familial and non-familial vestibular schwannoma. Hum Mol Genet 1994;3:347-50.
8. Knudson AG. Mutation and cancer: statistical study of retinoblastoma. Proc Natl Acad Sci USA 1971;68:820-3.
9. Wishart JH. Case of tumours in the skull, dura mater, and brain. Edinburgh Med Surg J 1882;18:701-4.
10. Gardner WJ, Frazier CH. Bilateral acoustic neurofibromas: a clinical study and field survey of a family of five generations with bilateral deafness in thirty eight members. Arch Neurol Psychiatry 1930;23:266-302.
11. Evans DRG, Huson SM, Donnai D, et al. A genetic study of type 2 neurofibromatosis in the United Kingdom. I. Prevalence, mutation rate, fitness, and confirmation of maternal transmission effect on severity. J Med Genet 1992;25:841-6.
12. Ruttledge MH, Andermann AA, Phelan CM, et al. Type of mutation in the neurofibromatosis type 2 gene frequently determines the severity of disease. Am J Hum Genet 1996;59:331-42.
13. Merel P, Houang-Xaun K, Sanson M, et al. Screening for germ-line mutations in the NF2 gene. Genes Chromosomes Cancer 1995;12:117-27.
14. Bourn D, Carter SA, Evans DRG, et al. A mutation in the neurofibromatosis type 2 tumour suppressor gene giving rise to widely different clinical phenotypes in two unrelated individuals. Am J Hum Genet 1994a;55:69-73.
15. Bourn D, Carter SA, Mason S, et al. Germ-line mutations in the neurofibromatosis type 2 tumour suppressor gene. Hum Mol Genet 1994b;3:413-9.
16. Kluwe L, Mautner VF. A missense mutation in the NF2 gene results in moderate and mild clinical phenotypes of neurofibromatosis type 2. Hum Genet 1996;97:224-7.
17. Watson C, Gaunt L, Evans DRG, et al. A germline interstitial deletion maps the locus for the type 2 neurofibromatosis to the interval between D22S56 and LIF (Leukaemia inhibitory factor. Hum Mol Genet 1993;2:701-4.
18. Wolff RK, Frazer KA, Jackler RK, et al. Analysis of chromosome 22 deletions in neurofibromatosis type 2 related tumours. Am J Hum Genet 1992;51:478-85.
19. Irving RM, Moffat DA, Hardy DG, et al. Molecular genetic analysis of the mechanism of tumourigenesis in acoustic neuroma. Arch Otolaryngol Head Neck Surg 1993;119:1222-8.
20. Twist EC, Ruttledge MH, Rousseau M, et al. The neurofibromatosis type 2 gene is inactivated in schwannomas. Hum Mol Genet 1994;3:147-51.
21. Jacoby LB, Macollin M, Louis DN, et al. Exon scanning for mutation in the NF2 gene in schwannomas. Hum Mol Genet 1994;3: 413-9.
22. Irving RM, Moffat DA, Hardy DG, et al. A molecular, clinical and immunohistological study of vestibular schwannoma. Otolaryngol Head Neck Surg 1997;116:426-430.
23. Bravo R, Celis JE. A search for differential polypeptide synthesis throughout the cell cycle of HeLa Cells. J Cell Biol 1980;84: 795-802.
24. Jaskulski D, DeReil JK, Mercer WE, et al. Inhibition of cellular proliferation by antisense oligodeoxynucleotides to PCNA cyclin. Science 1988;240:1544-6.
25. Orita M, Suzuki Y, Seikiya T, et al. Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction. Genomics 1989;5:874-9.
26. Dockhorn-Dworniczak B, Dworniczak B, Brömmelkamp L, et al. Non-isotopic detection of single strand conformation polymorphism (PCR-SSCP): a rapid and sensitive technique in diagnosis of phenylketonuria. Nucleic Acids Res 1991;19:2500.
27. Herman JG, Merlo A, Mao L, et al. Inactivation of the CDKN2/ p16/MTS1 gene is frequently associated with aberrant DNA methylation in all common human cancers. Cancer Res 1995;55: 4525-30.
28. Harada T, Irving RM, Xuereb JH, et al. Molecular genetic investigation of the neurofibromatosis type 2 (NF2) tumor suppressor gene in sporadic meningioraa. J Neurosurg 1996;84:847-52.
29. Bijlsma EK, Brouwer-Mladin R, Bosch DA, et al. Molecular char" acterisation of Chromosome 22 Deletions in Schwannomas. Gene Chrom Cancer 1992;5:201-5.
30. Sainz J, Huynh P, Figueroa K, et al. Mutations in the neurofibromatosis type 2 gene and lack of the gene product in vestibular schwannomas. Hum Mol Genet 1994;3:885-91.
31. MacCollin M, Ramesh V, Jacoby LB, et al. Mutational analysis of patients with neurofibromatosis 2. Am J Hum Genet 1994;55: 314-20.
32. Lekanne-Deprez RH, Bianchi AB, Groen NA. Frequent NF2 gene transcript mutations in sporadic meningiomas and vestibular schwannomas. Am J Hum Genet 1994;54:1022-9.
33. Bianchi AB, Hara T, Ramesh V, et al. Mutations in transcript isoforms of the neurofibromatosis 2 gene in multiple human tumour types. Nat Genet 1994;6:185-92.
34. Tikoo A, Varga M, Ramesh V, Gusella J, Maruta H. An anti-ras function of neurofibromatosis type 2 gene product (NF2/Merlin). J Biol Chem 1994;23387-90.
35. Caspari R, Olschwang S, Friedl W, et al. Familial adenomatous polyposis: desmoid tumours and lack of ophthalmic lesions (CHRPE) associated with APC mutations beyond codon 1444. Hum Mol Genet 1995;4:337-40.
36. Gayther SA, Warren W, Mazoyer S, et al. Germline mutations of the BRAC1 gene in breast and ovarian cancer families provide evidence for a genotype-phenotype correlation. Nat Genet 1995;11: 428-33.
37. Weit RJ, Ruby SG, Bauer GP. Proliferating cell nuclear antigen in the determination of growth rates in acoustic neuromas. Am J Otol 1994;15:294-8.
38. Beatty CW, Scheithauer BW, Katzman JA, et al. Acoustic schwannoma and pregnancy: a DNA flow cytometric, steroid hormone receptor, and proliferation marker study. Laryngoscope 1995;105: 693-700.
39. Narod SA, Parry DM, Parboosingh J, et al. Neurofibromatosis type 2 appears to be a genetically homogeneous disease. Am J Hum Genet 1992;51:486-96.