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The molecular pathology of tumours of the ear and temporal bone

Published online by Cambridge University Press:  29 June 2007

R. M. Irving*
Affiliation:
Department of Otolaryngology, University Hospital Birmingham, The Queen Elizabeth Hospital, Birmingham, U.K.
*
Address for correspondence: Mr R. M. Irving, Consultant ENT Surgeon, University Hospital Birmingham, The Queen Elizabeth Hospital, Edgbaston, Birmingham B15 2TH. Fax: 121 627 2291

Abstract

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Type
Molecular Biology Series
Copyright
Copyright © JLO (1984) Limited 1998

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References

Albrecht, S., Goodman, J. C., Rajagopolan, S., Levy, M., Cech, D. A., Cooley, L. D. (1994) Malignant meningioma in Gorlin's syndrome: cytogenetic and p53 gene analysis. Journal of Neurosurgery 81: 466471.CrossRefGoogle ScholarPubMed
Baysal, B. E., Farr, J. E., Rubenstein, W. S., Galus, R. A., Johnson, K. A., Aston, C. E., Myers, E. N., Johnson, J. T., Carrau, R., Kirkpatrick, S. J., Myssiorek, D., Singh, D., Saha, S., Gollin, S. M., Evans, G. A., James, M. R., Richard, C. W. (1997) Fine mapping of an imprinted gene for familial non-chromaffin paragangliomas, on chromosome 11q23. American Journal of Human Genetics 60: 121132.Google ScholarPubMed
Bello, M. J., de Campos, J. M., Kusak, J., Vaquero, J., Sarasa, J. L., Pestana, A., Rey, J. A. (1993) Clonal chromosome aberrations in neurinomas. Genes Chromosomes and Cancer 6: 206211.CrossRefGoogle ScholarPubMed
Bijlsma, E. K., Wallace, A. J., Evans, D. R. G. (1997) Misleading linkage results in an NF2 presymptomatic test owing to mosaicism. Journal of Medical Genetics 34: 934936.CrossRefGoogle Scholar
Blamires, T. I., Friedman, I., Moffat, D. A. (1992) Von Hippel-Lindau disease associated with an invasive choroid plexus tumour presenting as a middle ear mass. Journal of Laryngology and Otology 106: 429435.CrossRefGoogle ScholarPubMed
Bourn, D., Carter, S. A., Evans, D. G. R., Goodship, J., Coakham, H., Strachan, T. (1994a) A mutation in the neurofibromatosis type 2 tumour-suppressor gene, giving rise to widely different clinical phenotypes in two unrelated individuals. American Journal of Human Genetics 55: 6973.Google ScholarPubMed
Bourn, D., Carter, S. A., Mason, S., Evans, D. O. R., Strachan, T. (1994b) Germline mutations in the neurofibromatosis type 2 tumour suppressor gene. Human Molecular Genetics 5: 813816.CrossRefGoogle Scholar
Colman, S. D., Wallace, M. R. (1994) Neurofibromatosis Type 1. European Journal of Cancer 30: 19741981.CrossRefGoogle Scholar
Couturier, J., Dellatre, O., Kujas, M., Philippon, J., Peter, M., Rouleau, G., Aurias, A., Thomas, G. (1990) Assessment of chromosome 22 anomalies in neurinomas by combined karyotype and RFLP analysis. Cancer Genetics and Cytogenetics 45: 5562.CrossRefGoogle Scholar
Davis, K., MacCollin, M., Jacoby, L. B., Barone, R., Kronn, D., Ahrens, M., Weinstock, A., Cohen, B., Gusella, J. F. (1996) The molecular basis of schwannomatosis. Abstract presented at the American Society of Human Genetics annual meeting San Francisco.Google Scholar
Deen, H. G., Scheithauer, B. W., Ebersold, M. J. (1982) Clinical and pathological study of meningiomas of the first two decades of life. Journal of Neurosurgery 56: 317322.CrossRefGoogle ScholarPubMed
Devilee, P., van Schothorst, E. M., Bardoel, A. F. J., Bonsing, B., Kuipers-Dijkshoorn, N., James, M. R., Fleuren, G., van der Mey, A. G. L., Cornelisse, C. J. (1994) Allelotype of head and neck paragangliomas: allelic imbalance is conlined to the long arm of chromosome 11, the site of predisposing locus PGL. Genes Chromosomes and Cancer 11: 7178.CrossRefGoogle Scholar
Doney, M. K., Houseal, T. W., Soukup, S. W., Rutter, J. L., Gusella, J. F., Schneider, B. F., Golden, W. L., Menon, A. G. (1993) Identification of a putative tumour suppressor locus in 14q24–32 that is involved in formation and progression of meningiomas. American Journal of Human Genetics 53(Suppl): 293.Google Scholar
Dumanski, J. P., Rouleau, G. A., Nordenskjold, M., Collins, V. P. (1990) Molecular genetic analysis of chromosome 22 in 81 cases of meningioma. Cancer Research 50: 58635867.Google ScholarPubMed
Evans, D. G., Blair, V., Strachan, T., Lye, R. H., Ramsden, R. T. (1995) Variation of expression of the gene for type 2 neurofibromatosis; absence of a gender effect on vestibular schwannomas, but confirmation of a preponderance of meningiomas in females. Journal of Laryngology and Otology 109: 830835.CrossRefGoogle ScholarPubMed
Evans, D. G., Huson, S. M., Donnai, D., Neary, W., Blair, V., Teare, D., Newton, V., Strachan, T., Ramsden, R., Harris, R. (1992a) A genetic study of type 2 neurofibromatosis in the United Kingdom. I. Prevalence, mutation rate, fitness, and confinnation of maternal transmission effect on severity. Journal of Medical Genetics 29a: 841846.CrossRefGoogle Scholar
Evans, D. G., Huson, S. M., Donnai, D., Neary, W., Blair, V., Newton, V., Strachan, T., Harris, R. (1992b) A genetic study of type 2 neurofibromatosis in the United Kingdom. II. Guidelines for genetic counselling. Journal of Medical Genetics 29: 847852.CrossRefGoogle ScholarPubMed
Evans, D. G., Mason, S., Huson, S. M., Ponder, M., Harding, A. E., Strachan, T. (1997) Spinal and cutaneous schwannomatosis is a variant form of type 2 neurofibromatosis: a clinical and molecular study. Journal of Neurology Neurosurgery and Psychiatry 62: 361366.CrossRefGoogle ScholarPubMed
Gonzalez-Agosti, C., Xu, L., Pinney, D., Beauchamp, R., Hobbs, W., Gusella, J., Ramesh, V. (1996) The merlin tumour suppressor localises preferentially in membrane ruffles. Oncogene 13: 12391247.Google Scholar
Goto, M.Miller, R. W., Ishikawa, Y., Sugano, H. (1996) Excess of rare cancers in Werner syndrome (Adult Progeria). Cancer Epidemiology, Biomarkers & Prevention 5: 239246.Google ScholarPubMed
Gulya, A. J. (1993) The glomus tumour and its biology. Laryngoscope 103(Suppl): 715.CrossRefGoogle ScholarPubMed
Harada, T., Irving, R. M., Xuerub, J. H., Barton, D. E., Hardy, D. G., Moffat, D. A., Maher, E. R. (1996) Molecular genetic investigation of the neurofibromatosis type 2 tumour suppressor gene in sporadic meningioma. Journal of Neurosurgery 84: 847851.CrossRefGoogle ScholarPubMed
Heutink, P., van der May, A. G. L., Sandkuijl, A., van Gils, A. P. G., Bardoel, A., Breedveld, G. J., van Vliet, M., van Ommen, G. J. B., Cornelisse, C. J., Oostra, B. A., Weber, J. L., Devilee, P. (1992) A gene subject to genomic imprinting and responsible for hereditary paragangliomas maps to chromosome 11q23-qter. Human Molecular Genetics 1: 710.CrossRefGoogle ScholarPubMed
Heutink, P., van Schothorst, E. M., van der May, A. G., Barodel, A., Breedveld, G., Pertijs, J., Sandkuijl, L. A., van Ommen, G. J., Cornelisse, C. J., Oostra, B. A., Devilee, P. (1994) Further localisation of the gene for hereditary paragangliomas (PGL), and evidence for linkage in unrelated families. European Journal of Human Genetics 2: 148158.CrossRefGoogle ScholarPubMed
Huynh, D. P., Mautner, V., Baser, M. E., Stavrou, D., Puist, S. (1997) Immunohistochemical detection of schwannomin and neurofibromin in vestibular schwannomas, ependymomas and meningiomas. Journal of Neuropathology and Experimental Neurology 56: 382390.CrossRefGoogle ScholarPubMed
Irving, R. M. (1996) The molecular genetics of vestibular schwannoma. Thesis, University of London.Google Scholar
Irving, R. M., Harada, T., Moffat, D. A., Hardy, D. G., Whittaker, J. L., Xuereb, J. H., Maher, E. R. (1997a) Somatic neurofibromatosis type 2 gene mutations and growth characteristics in vestibular schwannoma. American Journal of Otology 18: 754760.Google ScholarPubMed
Irving, R. M., Moffat, D. A., Hardy, D. G., Barton, D. E., Xuereb, J. H., Holland, F. J., Maher, E. R. (1997b) A molecular, clinical and inununohistological study of vestibular schwannoma. Otolaryngology Head and Neck Surgery 116: 426430.Google ScholarPubMed
Irving, R. M., Moffat, D. A.. Hardy, D. G., Barton, D. E., Xuereb, J. H., Maher, E. R. (1993) Molecular genetic analysis of the mechanism of tumourigenesis in acoustic neuroma. Archives of Otolaryngology Head and Neck Surgery 119: 12221228.CrossRefGoogle Scholar
Irving, R. M., Moffat, D. A., Hardy, D. G., Barton, D. E., Xuereb, J. H., Maher, E. R. (1994) Somatic NF2 gene mutations in familial and non-familial vestibular schwannoma. Human Molecular Genetics 3: 347350.CrossRefGoogle ScholarPubMed
Jacoby, L. B., MacCohn, M., Louis, D. N., Mohney, T., Rubio, M., Pulaski, K., Troffater, J. A., Kley, N., Seizinger, B., Ramesh, V., Gusella, J. F. (1994) Exon scanning for mutation of the NF2 gene in schwannomas. Human Molecular Genetics 3: 413419.CrossRefGoogle ScholarPubMed
Kempermann, G., Neumann, H. P. H., Scheremet, R., Volk, B., Mann, W., Gilsbach, J., Laszig, R. (1996) Deafness due to bilateral endolymphatic sac tumours in a case of von Hippel-Lindau syndrome. Journal of Neurology Neurosurgery and Psychiatry 61: 318320.CrossRefGoogle Scholar
Kluwe, L., Mautner, V. F. (1996) A missense mutation in the NF2 gene results in moderate and mild phenotypes of neurofibromatosis type 2. Human Genetics 97: 224227.CrossRefGoogle ScholarPubMed
Latif, F., Tory, K., Gnarra, J., Yao, M., Duh, F. M., Orcutt, M. L., Stackhouse, T., Kuzmin, I., Modi, W., Geil, I., Schmidt, L., Zhou, F., Li, H., Wei, M. H., Chen, F., Glenn, G., Choyke, P., McClellan, M., Weng, Y., Dah-Shuhn, R., Dean, M., Glavac, D., Richards, F. M., Crossey, P. A., Fergusson-Smith, M. A., Le Paslier, D., Chumakov, I., Cohen, D., Chinault, A. C., Maher, E. R., Linehan, W. M., Zbar, B., Lennan, M. I. (1993) Identification of the von Hippel Lindau disease tumour suppressor gene. Science 260: 13171320.CrossRefGoogle Scholar
Lekanne Deprez, R. H., Riegman, P. H. J., Groen, N. A., Warringa, U. L., Van Biezen, N. A., Molijn, A. C., Bootsma, D., De Jong, P. J., Menon, A. G., Kley, N. A., Seizinger, B. R., Zwarthoff, E. C. (1995) Cloning and charactensation of MN1, a gene from chromosome 22q11, which is disrupted by a balanced translocation in a meningioma. Oncogene 10: 15211528.Google ScholarPubMed
Lindblom, A., Ruttledge, M., Collins, V. P., Nordenskjold, M.Dumanski, J. P. (1994) Chromosomal deletions in anaplastic meningiomas suggest multiple regions outside chromosome 22 as important in tumour progression. International Journal of Cancer 56: 354357.CrossRefGoogle Scholar
Lustig, L. R., Jackler, R. K. (1996) Neurofibromatosis type 1 involving the external auditory canal. Otolaryngology Head and Neck Surgery 114: 299307.CrossRefGoogle ScholarPubMed
Lutchman, M., Rouleau, G. A. (1995) The Neurofibromatosis type 2 gene product, schwannomin, suppresses growth of NIH 3T3 cells. Cancer Research 55: 22702274.Google ScholarPubMed
McCaffrey, T. V., Meyer, F. B., Michels, V. V., Piepgas, D. G., Marion, M. S. (1994) Familial paragangliomas of the head and neck. Archives of Otolaryngology Head and Neck Surgery 120: 12111216.CrossRefGoogle ScholarPubMed
Maher, R. R. (1994) Von Hippel Lindau disease. European Journal of Cancer 13: 19871990.CrossRefGoogle Scholar
Maher, E. R., Webster, A. R., Richards, F. M., Green, J. S., Crossey, P. A., Payne, S. A., Morre, A. T. (1996) Phenotypic expression in von Hippel-Lindau disease: correlations with germline VHL gene mutations. Journal of Medical Genetics 33: 328332.CrossRefGoogle ScholarPubMed
Mariman, E. C. M., van Beersum, S. E. C., Cremers, C. W. R. J., Struycken, P. M., Ropers, H. H. (1995) Fine mapping of a putatively imprinted gene for familial non-chromaffin paragangliomas to chromosome 11q13.1: evidence for genetic heterogeneity. Human Genetics 95: 5662.CrossRefGoogle ScholarPubMed
Maxwell, M., Shth, S. D., Galanopoulos, T., Hedley-Whyte, T., Cosgrove, G. R. (1998) Familial meningioma: analysis of expression of neurofibromatosis 2 protein merlin. Journal of Neurosurgery 88: 562569.CrossRefGoogle ScholarPubMed
Merel, P., Hoang-Xuan, K., Sanson, M., Bijlsma, E., Rouleau, G., Laurent-Puig, P., Pulst, S., Baser, M., Lenoir, G., Sterkers, J. M., Philippon, J., Resche, F., Mautner, V. F., Fischer, G., Hulsebos, T., Aunas, A., Delattre, O., Thomas, G. (1995) Screening for germline mutations in the NF2 gene. Genes Chromosomes and Cancer 12: 117127.CrossRefGoogle ScholarPubMed
Megerian, C. A., McKenna, M. J., Nuss, R. C., Mamglia, A. J., Ojemann, R. G., Pilch, B. Z., Nadol, J. B. (1995) Endolymphatic sac tumours histopathologic confirmation, clinical characterization, and implication in von Hippel-Lindau disease. Laryngoscope 105: 801808.CrossRefGoogle ScholarPubMed
Moffat, D. A., Hardy, D. G., Irving, R. M., Viani, L., Beynon, G., Baguley, D. M. (1995) Referral patterns in vestibular schwannoma. Clinical Otolaryngology 20: 8083.CrossRefGoogle Scholar
Moffat, D. A., Saunders, J. E., McElveen, J. T., McFerran, D. J., Hardy, D. G. (1993) Unusual cerebello-pontine angle tumours. Journal of Laryngology and Otology 107: 10871098.CrossRefGoogle ScholarPubMed
Oosterwijk, J. C., Jansen, J. C., van Schothorst, E. M., Oosterhof, A. W., Devilee, P., Bakker, E., Zoeteweij, M. W., van der Mey, A. G. L. (1996) First experiences with genetic counselling based on predictive DNA diagnosis in hereditary glomus tumours (paragangliomas). Journal of Medical Genetics 33: 379383.CrossRefGoogle ScholarPubMed
Parry, D. M., MacCollin, M., Kaiser-Kupfer, M. I., Pulaski, K., Nicholson, H. S., Bolesta, M., Eldridge, R., Gusella, J. (1996) Germ-line mutations in the neurofibromatosis type 2 gene: Correlations with disease severity and retinal abnormalities. American Journal of Human Genetics 59: 331342.Google ScholarPubMed
Parry, D. M., Eldridge, R., Kaiser-Kupfer, M. I., Bouzas, E. A., Pikus, A., Patronas, N. (1994) Neurofibromatosis 2 (NF2): clinical characteristics of 63 affected individuals and clinical evidence for heterogeneity. American Journal of Medical Genetics 52: 450461.CrossRefGoogle ScholarPubMed
Poe, D. S., Tarlov, E. C., Thomas, C. B., Kveton, J. F. (1993) Aggressive papillary tumours of the temporal bone. Otolaryngology Head and Neck Surgery 108: 8086.CrossRefGoogle Scholar
Pollak, A., Bohmer, A., Spycher, M., Fisch, U. (1995) Are papillary adenomas endolymphatic sac tumours? Annals of Otology Rhinology and Laryngology 94: 613619.CrossRefGoogle Scholar
Pulst, S. M., Rouleau, G. A., Marineau, C., Fain, P.Sieb, J. P. (1993) Familial meningioma is not allelic to neurofibromatosis 2. Neurology 43: 20962098.CrossRefGoogle Scholar
Raggato, S. R., Cassartelli, C. (1989) Cytogenetic study of human neurinomas. Cancer Genetics and Cyto genetics 41: 278.Google Scholar
Rey, J. A., Bello, M. J., de Campos, J. M., Kusak, M. E., Moreno, S. (1987) Cytogenetic analysis of human neurinomas. Cancer Genetics and Cytogenetics 28: 187188.CrossRefGoogle ScholarPubMed
Rempel, S. A., Schwechheimer, K., Davis, R. L., Cavenee, W. K., Rosenblum, M. L. (1993) Loss of heterozygosity for loci on chromosome 10 is associated with morphologically malignant meningioma progression. Cancer Research 53: 23862392.Google ScholarPubMed
Rouleau, G. A., Mere, P., Lutchman, M., Sanson, M., Zucman, J., Marineau, C., Hoang-Xuan, K., Demeczuk, S., Desmaze, C., Plougastel, B., Pulst, S. M., Lenoir, G., Bijisma, E., Fashold, R., Dumanski, J., de Jong, P., Parry, D., Eldridge, R., Aurias, A., Delattre, O. & Thomas, G. (1993) Alteration in a new gene encoding a putative membrane-organizing protein causes neurofibromatosis type 2. Nature 363: 515521.CrossRefGoogle Scholar
Rouleau, G., Seizinger, B. R., Ozelius, L. G., Hobbs, W. J., Troffater, J. A., Seizinger, B. R., Martuza, R. L., Supernau, D. W., Conneally, M. P., Gusella, J. F. (1987) Genetic linkage analysis of bilateral acoustic neuroflbromatosis to a DNA marker on chromosome 22. Nature 329: 246248.CrossRefGoogle ScholarPubMed
Ruttledge, M. H., Andermann, A. A., Phelan, C. M., Claudio, J. O., Han, F-Y., Chretien, N., Ranaratnam, S., MacCollin, M., Short, P., Parry, D., Michels, V., Riccardi, V. M., Weksberg, R., Kitamura, K., Bradburn, J. M., Hall, B. D., Propping, P., Rouleau, G. A. (1996) Type of mutation in the neurofibromatosis type 2 gene (NF2) frequently determines severity of disease. American Journal of Human Genetics 59: 331342.Google ScholarPubMed
Seizinger, B. R., Martuza, R. L., Gusella, J. F. (1986) Loss of genes on chromosome 22 in the tumorigenesis of human acoustic neuroma. Nature 322: 644647.CrossRefGoogle ScholarPubMed
Simon, M., von Deimling, A., Larson, J. L., WeLlenreuther, R., Kaskel, P., Waha, A., Warnick, R. E., Tew, J. M., Menon, A. G. (1995) Allelic losses on chromosomes 14, 10, and 1, in atypical and malignant meningiomas: A genetic model of meningioma progression. Cancer Research 55: 46964701.Google ScholarPubMed
Stenman, G., Kindblom, L. G., Johansson, M., Angervali, L. (1991) Clonal chromosome abnormalities and in vitro growth characteristics of classical and cellular schwannomas. Cancer Genetics and Cytogenetics 57: 121131.CrossRefGoogle ScholarPubMed
Tibbs, R. E., Bowles, A. P., Raila, F. A., Fratkin, J. D., Hutchins, J. B. (1997) Should endolymphatic sac tumours be considered part of the von Hippel-Lindau complex? Pathology case report. Neurosurgery 40: 848855.CrossRefGoogle ScholarPubMed
Tikoo, A., Varga, M., Ramesh, V., Gusella, J., Maruta, H. (1994) An anti-Ras function of neurofibromatosis type 2 gene product Journal Biological Chemistry 269: 2338923390.CrossRefGoogle ScholarPubMed
Troffater, J. A., MacCollin, M. M., Rutler, J. L., Murrell, J. R., Duyao, M. P., Parry, D. M., Eldridge, R., Kley, N, Menon, A. G., Pulsaski, K., Hasse, V. H., Ambrose, C. M., Munroe, D., Bove, C., Haines, J. L., Martuza, R. L., MacDonald, M. E., Seizinger, B. R., Short, M. P., 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: 120.Google Scholar
Twist, E. C., Ruttledge, M. H., Rousseau, M., Sanson, M., Papi, L., Merel, P., Delattre, O., Thomas, G., Rouleau, G. A. (1994) The neurofibromatosis type 2 gene is inactivated in schwannomas. Human Molecular Genetics 3: 147151.CrossRefGoogle ScholarPubMed
Vaheri, A., Carpen, O., Heiska, L., Helander, T. S., Jaaskelainen, J., Majander-Nordenswan, P., Sainio, M., Timonen, T., Turunen, O. (1997) The ezrin protein family: membrane cytoskeleton interactions and disease associations. Current Opinion in Cell Biology 9: 659666.CrossRefGoogle ScholarPubMed
van Baars, F. M., Cremers, C. R. W. J., van den Broek, P., Geerts, S., Veldman, J. (1982) Genetic aspects of nonchromaffin paraganglioma. Human Genetics 60: 305309.CrossRefGoogle ScholarPubMed
Vishochil, D., Buchberg, A. M., Xu, G., Cawthone, R. M., Stevens, J., Wolff, R. K., Culver, M., Carey, J. C., Copeland, N. G., Jenkins, N. A., White, R., O'Connell, P. (1990) Deletions and a translocation interrupt a cloned gene at the neurofibromatosis type 1 locus. Cell 62: 187192.CrossRefGoogle Scholar
Webb, H. D., Griffin, C. A. (1990) Cytogenetic study of acoustic neurinomas. Cancer Genetics and Cyto genetics 56: 8384.CrossRefGoogle Scholar
Weber, R. G., Bostrom, J., Wolter, M., Baudis, M., Collins, V. P., Reifenberger, G., Lichter, P. (1997) Analysis of genomic alterations in benign, atypical, and anaplastic meningiomas: toward a genetic model of meningioma progression. Proceedings of the National Academy of Science 94: 14719–147.CrossRefGoogle Scholar
Wellenreuther, R., Waha, A., Vogel, Y., Lenartz, D., Schramm, I., Wiestler, O. D., von Deimling, A. (1997) Quantitative analysis of neurofibromatosis type 2 gene transcripts in meningiomas supports the concept of distinct molecular variants. Laboratory Investigation 77: 601606.Google ScholarPubMed
Welling, D. B. (1998) Clinical manifestations of mutations in the neurofibromatosis type 2 gene in vestibular schwannomas (acoustic neuromas) Laryngoscope 108: 178189.CrossRefGoogle ScholarPubMed
Zang, K. D. (1982) Cytological and cytogenetic studies on human meningioma. Cancer Genetics and Cyto genetics 6: 249274.CrossRefGoogle ScholarPubMed