Skip to main content
Erschienen in: Journal of Neurology 12/2006

01.12.2006 | REVIEW

News on the genetics, epidemiology, medical care and translational research of Schwannomas

verfasst von: C.O. Hanemann, D.G. Evans

Erschienen in: Journal of Neurology | Ausgabe 12/2006

Einloggen, um Zugang zu erhalten

Abstract

Recent years have seen substantial news and updates in the genetics and diagnosis of schwannomas, even a new hereditary disease with schwannomas; Schwannomatosis has been defined. These developments have consequently led to better evaluation of the incidence of schwannomas. Although there has also been progress in the treatment of schwannomas especially in the field of radiation therapy, hereditary diseases with multiple tumours still represent a therapeutic dilemma. NF2 in particular still causes major morbidity and mortality owing to the neurological deficit of multiple tumour disease and deafness caused by vestibular nerve involvement. Thus there has been great enthusiasm about disease models in the hope that translational research will give rise to new therapies.
Literatur
1.
Zurück zum Zitat Ahmed AR, Watanabe H, Aoki J, Shinozaki T, Takagishi K (2001) Schwannoma of the extremities: the role of PET in preoperative planning. Eur J Nucl Med 28:1541–1551PubMedCrossRef Ahmed AR, Watanabe H, Aoki J, Shinozaki T, Takagishi K (2001) Schwannoma of the extremities: the role of PET in preoperative planning. Eur J Nucl Med 28:1541–1551PubMedCrossRef
2.
Zurück zum Zitat Antinheimo J, Sankila R, Carpen O, Pukkala E, Sainio M, Jaeaeskelaeinen J (2000) Population-based analysis of sporadic and type 2 neurofibromatosis-associated meningiomas and schwannomas (see comments). Neurology 54:71–76PubMed Antinheimo J, Sankila R, Carpen O, Pukkala E, Sainio M, Jaeaeskelaeinen J (2000) Population-based analysis of sporadic and type 2 neurofibromatosis-associated meningiomas and schwannomas (see comments). Neurology 54:71–76PubMed
3.
Zurück zum Zitat Baser ME, Evans DG, Jackler RK, Sujansky E, Rubenstein A (2000) Neurofibromatosis 2, radiosurgery and malignant nervous system tumours (letter). Br J Cancer 82:998PubMedCrossRef Baser ME, Evans DG, Jackler RK, Sujansky E, Rubenstein A (2000) Neurofibromatosis 2, radiosurgery and malignant nervous system tumours (letter). Br J Cancer 82:998PubMedCrossRef
4.
Zurück zum Zitat Baser ME, Friedman JM, Aeschliman D, Joe H, Wallace AJ, Ramsden RT, Evans DG (2002) Predictors of the risk of mortality in neurofibromatosis 2. Am J Hum Genet 71:715–723PubMedCrossRef Baser ME, Friedman JM, Aeschliman D, Joe H, Wallace AJ, Ramsden RT, Evans DG (2002) Predictors of the risk of mortality in neurofibromatosis 2. Am J Hum Genet 71:715–723PubMedCrossRef
5.
Zurück zum Zitat Baser ME, Friedman JM, Evans DG (2006) Increasing the specificity of diagnostic criteria for schwannomatosis. Neurology 66:730–732PubMedCrossRef Baser ME, Friedman JM, Evans DG (2006) Increasing the specificity of diagnostic criteria for schwannomatosis. Neurology 66:730–732PubMedCrossRef
6.
Zurück zum Zitat Baser ME, Kuramoto L, Joe H, Friedman JM, Wallace AJ, Gillespie JE, Ramsden RT, Evans DG (2004) Genotype-phenotype correlations for nervous system tumors in neurofibromatosis 2: a population-based study. Am J Hum Genet 75:231–239PubMedCrossRef Baser ME, Kuramoto L, Joe H, Friedman JM, Wallace AJ, Gillespie JE, Ramsden RT, Evans DG (2004) Genotype-phenotype correlations for nervous system tumors in neurofibromatosis 2: a population-based study. Am J Hum Genet 75:231–239PubMedCrossRef
7.
Zurück zum Zitat Caye-Thomasen P, Werther K, Nalla A, Bog-Hansen TC, Nielsen HJ, Stangerup SE, Thomsen J (2005) VEGF and VEGF receptor-1 concentration in vestibular schwannoma homogenates correlates to tumor growth rate. Otol Neurotol 26:98–101PubMedCrossRef Caye-Thomasen P, Werther K, Nalla A, Bog-Hansen TC, Nielsen HJ, Stangerup SE, Thomsen J (2005) VEGF and VEGF receptor-1 concentration in vestibular schwannoma homogenates correlates to tumor growth rate. Otol Neurotol 26:98–101PubMedCrossRef
8.
Zurück zum Zitat Combs SE, Volk S, Schulz-Ertner D, Huber PE, Thilmann C, Debus J (2005) Management of acoustic neuromas with fractionated stereotactic radiotherapy (FSRT): long-term results in 106 patients treated in a single institution. Int J Radiat Oncol Biol Phys 63:75–81PubMedCrossRef Combs SE, Volk S, Schulz-Ertner D, Huber PE, Thilmann C, Debus J (2005) Management of acoustic neuromas with fractionated stereotactic radiotherapy (FSRT): long-term results in 106 patients treated in a single institution. Int J Radiat Oncol Biol Phys 63:75–81PubMedCrossRef
9.
Zurück zum Zitat Dancey J, Sausville EA (2003) Issues and progress with protein kinase inhibitors for cancer treatment. Nat Rev Drug Discov 2:296–313PubMedCrossRef Dancey J, Sausville EA (2003) Issues and progress with protein kinase inhibitors for cancer treatment. Nat Rev Drug Discov 2:296–313PubMedCrossRef
10.
Zurück zum Zitat Dow G, Biggs N, Evans G, Gillespie J, Ramsden R, King A (2005) Spinal tumors in neurofibromatosis type 2. Is emerging knowledge of genotype predictive of natural history? J Neurosurg Spine 2:574–579PubMed Dow G, Biggs N, Evans G, Gillespie J, Ramsden R, King A (2005) Spinal tumors in neurofibromatosis type 2. Is emerging knowledge of genotype predictive of natural history? J Neurosurg Spine 2:574–579PubMed
11.
Zurück zum Zitat Evans DG, Manson S, Huson SM, Pouder M, Harding AE, Strachan T (1997) Neurofibromatosis type 2: genetic and clinical features. Ear: J Neurol Neurosurg Psychiatry 62:361–366 Evans DG, Manson S, Huson SM, Pouder M, Harding AE, Strachan T (1997) Neurofibromatosis type 2: genetic and clinical features. Ear: J Neurol Neurosurg Psychiatry 62:361–366
12.
Zurück zum Zitat Evans DG, Baser ME, O’Reilly B, Rowe J, Gleeson M, Saeed S, King A, Huson SM, Kerr R, Thomas N, Irving R, MacFarlane R, Ferner R, McLeod R, Moffat D, Ramsden R (2005) Management of the patient and family with neurofibromatosis 2: a consensus conference statement. Br J Neurosurg 19:5–12PubMedCrossRef Evans DG, Baser ME, O’Reilly B, Rowe J, Gleeson M, Saeed S, King A, Huson SM, Kerr R, Thomas N, Irving R, MacFarlane R, Ferner R, McLeod R, Moffat D, Ramsden R (2005) Management of the patient and family with neurofibromatosis 2: a consensus conference statement. Br J Neurosurg 19:5–12PubMedCrossRef
13.
Zurück zum Zitat Evans DG, Huson SM, Donnai D, Neary W, Blair V, Newton V, Harris R (1992) A clinical study of type 2 neurofibromatosis. Q J Med 84:603–618PubMed Evans DG, Huson SM, Donnai D, Neary W, Blair V, Newton V, Harris R (1992) A clinical study of type 2 neurofibromatosis. Q J Med 84:603–618PubMed
14.
Zurück zum Zitat Evans DG, Huson SM, Donnai D, Neary W, Blair V, Teare D, Newton V, Strachan T, Ramsden R, Harris R (1992) 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 Medl Genet29:841–846 Evans DG, Huson SM, Donnai D, Neary W, Blair V, Teare D, Newton V, Strachan T, Ramsden R, Harris R (1992) 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 Medl Genet29:841–846
15.
Zurück zum Zitat Evans DG, Moran A, King A, Saeed S, Gurusinghe N, Ramsden R (2005) Incidence of vestibular schwannoma and neurofibromatosis 2 in the North West of England over a 10-year period: higher incidence than previously thought. Otol Neurotol 26:93–97PubMedCrossRef Evans DG, Moran A, King A, Saeed S, Gurusinghe N, Ramsden R (2005) Incidence of vestibular schwannoma and neurofibromatosis 2 in the North West of England over a 10-year period: higher incidence than previously thought. Otol Neurotol 26:93–97PubMedCrossRef
16.
17.
Zurück zum Zitat Giovannini M, Robanus-Maandag E, van d V, Niwa-Kawakita M, Abramowski V, Goutebroze L, Woodruff JM, Berns A, Thomas G (2000) Conditional biallelic Nf2 mutation in the mouse promotes manifestations of human neurofibromatosis type 2. Genes Devel 14:1617–1630PubMed Giovannini M, Robanus-Maandag E, van d V, Niwa-Kawakita M, Abramowski V, Goutebroze L, Woodruff JM, Berns A, Thomas G (2000) Conditional biallelic Nf2 mutation in the mouse promotes manifestations of human neurofibromatosis type 2. Genes Devel 14:1617–1630PubMed
18.
Zurück zum Zitat Halliday AL, Sobel RA, Martuza RL (1991) Benign spinal nerve sheath tumors: their occurrence sporadically and in neurofibromatosis types 1 and 2. J Neurosurg 74:248–253PubMed Halliday AL, Sobel RA, Martuza RL (1991) Benign spinal nerve sheath tumors: their occurrence sporadically and in neurofibromatosis types 1 and 2. J Neurosurg 74:248–253PubMed
19.
Zurück zum Zitat Hanemann CO, Kaempchen KE, Kaufmann D, Krause BJ (2005) Fludeoxyglucose F 18 positron emission tomography and computed tomography of a giant retroperitoneal schwannoma occurring in a patient with neurofibromatosis type 2. Arch Neurol 62:674–675PubMedCrossRef Hanemann CO, Kaempchen KE, Kaufmann D, Krause BJ (2005) Fludeoxyglucose F 18 positron emission tomography and computed tomography of a giant retroperitoneal schwannoma occurring in a patient with neurofibromatosis type 2. Arch Neurol 62:674–675PubMedCrossRef
20.
Zurück zum Zitat Herwadker A, Vokurka EA, Evans DG, Ramsden RT, Jackson A (2005) Size and growth rate of sporadic vestibular schwannoma: predictive value of information available at presentation. Otol Neurotol 26:86–92PubMedCrossRef Herwadker A, Vokurka EA, Evans DG, Ramsden RT, Jackson A (2005) Size and growth rate of sporadic vestibular schwannoma: predictive value of information available at presentation. Otol Neurotol 26:86–92PubMedCrossRef
21.
Zurück zum Zitat Hirokawa Y, Nakajima H, Hanemann CO, Kurtz A, Frahm S, Mautner V, Maruta H (2005) Signal Therapy of NF1-Deficient Tumor Xenograft in Mice by the Anti-PAK1 Drug FK228. Cancer Biol Ther 4:379–381PubMedCrossRef Hirokawa Y, Nakajima H, Hanemann CO, Kurtz A, Frahm S, Mautner V, Maruta H (2005) Signal Therapy of NF1-Deficient Tumor Xenograft in Mice by the Anti-PAK1 Drug FK228. Cancer Biol Ther 4:379–381PubMedCrossRef
22.
Zurück zum Zitat Hirokawa Y, Tikoo A, Huynh J, Utermark T, Hanemann CO, Giovannini M, Xiao GH, Testa JR, Wood J, Maruta H (2004) A clue to the therapy of neurofibromatosis type 2: NF2/merlin is a PAK1 inhibitor. Cancer J 10:20–26PubMedCrossRef Hirokawa Y, Tikoo A, Huynh J, Utermark T, Hanemann CO, Giovannini M, Xiao GH, Testa JR, Wood J, Maruta H (2004) A clue to the therapy of neurofibromatosis type 2: NF2/merlin is a PAK1 inhibitor. Cancer J 10:20–26PubMedCrossRef
23.
Zurück zum Zitat Ho SY, Kveton JF (2002) Acoustic neuroma. Assessment and management. Otolaryngol Clin North Am 35:393–404, viiiPubMedCrossRef Ho SY, Kveton JF (2002) Acoustic neuroma. Assessment and management. Otolaryngol Clin North Am 35:393–404, viiiPubMedCrossRef
24.
Zurück zum Zitat Kaempchen K, Mielke K, Utermark T, Langmesser S, Hanemann CO (2003) Upregulation of the Rac1/JNK signaling pathway in primary human schwannoma cells. Hum Mol Genet 12:1211–1221PubMedCrossRef Kaempchen K, Mielke K, Utermark T, Langmesser S, Hanemann CO (2003) Upregulation of the Rac1/JNK signaling pathway in primary human schwannoma cells. Hum Mol Genet 12:1211–1221PubMedCrossRef
25.
Zurück zum Zitat Kim P, Ebersold MJ, Onofrio BM, Quast LM (1989) Surgery of spinal nerve schwannoma. Risk of neurological deficit after resection of involved root. J Neurosurg 71:810–814PubMed Kim P, Ebersold MJ, Onofrio BM, Quast LM (1989) Surgery of spinal nerve schwannoma. Risk of neurological deficit after resection of involved root. J Neurosurg 71:810–814PubMed
26.
Zurück zum Zitat Kirschner LS, Carney JA, Pack SD, Taymans SE, Giatzakis C, Cho YS, Cho-Chung YS, Stratakis CA (2000) Mutations of the gene encoding the protein kinase A type I-alpha regulatory subunit in patients with the Carney complex. Nat Genet 26:89–92PubMedCrossRef Kirschner LS, Carney JA, Pack SD, Taymans SE, Giatzakis C, Cho YS, Cho-Chung YS, Stratakis CA (2000) Mutations of the gene encoding the protein kinase A type I-alpha regulatory subunit in patients with the Carney complex. Nat Genet 26:89–92PubMedCrossRef
27.
Zurück zum Zitat Kissil JL, Wilker EW, Johnson KC, Eckman MS, Yaffe MB, Jacks T (2003) Merlin, the product of the Nf2 tumor suppressor gene, is an inhibitor of the p21-activated kinase, Pak1. Mol Cell 12:841–849PubMedCrossRef Kissil JL, Wilker EW, Johnson KC, Eckman MS, Yaffe MB, Jacks T (2003) Merlin, the product of the Nf2 tumor suppressor gene, is an inhibitor of the p21-activated kinase, Pak1. Mol Cell 12:841–849PubMedCrossRef
28.
Zurück zum Zitat Klekamp J, Samii M (1998) Surgery of spinal nerve sheath tumors with special reference to neurofibromatosis. Neurosurgery 42:279–289PubMedCrossRef Klekamp J, Samii M (1998) Surgery of spinal nerve sheath tumors with special reference to neurofibromatosis. Neurosurgery 42:279–289PubMedCrossRef
29.
Zurück zum Zitat Kluwe L, Mautner V, Heinrich B, Dezube R, Jacoby LB, Friedrich RE, MacCollin M (2003) Molecular study of frequency of mosaicism in neurofibromatosis 2 patients with bilateral vestibular schwannomas. J Med Genet 40:109–114PubMedCrossRef Kluwe L, Mautner V, Heinrich B, Dezube R, Jacoby LB, Friedrich RE, MacCollin M (2003) Molecular study of frequency of mosaicism in neurofibromatosis 2 patients with bilateral vestibular schwannomas. J Med Genet 40:109–114PubMedCrossRef
30.
Zurück zum Zitat Lim JY, Kim H, Kim YH, Kim SW, Huh PW, Lee KH, Jeun SS, Rha HK, Kang JK (2003) Merlin suppresses the SRE-dependent transcription by inhibiting the activation of Ras-ERK pathway. Biochem Biophys Res Commun 302:238–245PubMedCrossRef Lim JY, Kim H, Kim YH, Kim SW, Huh PW, Lee KH, Jeun SS, Rha HK, Kang JK (2003) Merlin suppresses the SRE-dependent transcription by inhibiting the activation of Ras-ERK pathway. Biochem Biophys Res Commun 302:238–245PubMedCrossRef
31.
Zurück zum Zitat MacCollin M, Chiocca EA, Evans DG, Friedman JM, Horvitz R, Jaramillo D, Lev M, Mautner VF, Niimura M, Plotkin SR, Sang CN, Stemmer-Rachamimov A, Roach ES (2005) Diagnostic criteria for schwannomatosis. Neurology 64:1838–1845PubMedCrossRef MacCollin M, Chiocca EA, Evans DG, Friedman JM, Horvitz R, Jaramillo D, Lev M, Mautner VF, Niimura M, Plotkin SR, Sang CN, Stemmer-Rachamimov A, Roach ES (2005) Diagnostic criteria for schwannomatosis. Neurology 64:1838–1845PubMedCrossRef
32.
Zurück zum Zitat Masuda A, Fisher LM, Oppenheimer ML, Iqbal Z, Slattery WH (2004) Hearing changes after diagnosis in neurofibromatosis type 2. Otol Neurotol 25:150–154PubMedCrossRef Masuda A, Fisher LM, Oppenheimer ML, Iqbal Z, Slattery WH (2004) Hearing changes after diagnosis in neurofibromatosis type 2. Otol Neurotol 25:150–154PubMedCrossRef
33.
Zurück zum Zitat Mautner VF, Baser ME, Thakkar SD, Feigen UM, Friedman JM, Kluwe L (2002) Vestibular schwannoma growth in patients with neurofibromatosis Type 2: a longitudinal study. J Neurosurg 96:223–228PubMedCrossRef Mautner VF, Baser ME, Thakkar SD, Feigen UM, Friedman JM, Kluwe L (2002) Vestibular schwannoma growth in patients with neurofibromatosis Type 2: a longitudinal study. J Neurosurg 96:223–228PubMedCrossRef
34.
Zurück zum Zitat Mautner VF, Tatagiba M, Lindenau M, Funsterer C, Pulst SM, Baser ME, Kluwe L, Zanella FE (1995) Spinal tumors in patients with neurofibromatosis type 2: MR imaging study of frequency, multiplicity, and variety. AJR Am J Roentgenol 165:951–955PubMed Mautner VF, Tatagiba M, Lindenau M, Funsterer C, Pulst SM, Baser ME, Kluwe L, Zanella FE (1995) Spinal tumors in patients with neurofibromatosis type 2: MR imaging study of frequency, multiplicity, and variety. AJR Am J Roentgenol 165:951–955PubMed
35.
Zurück zum Zitat McClatchey AI, Saotome I, Mercer K, Crowley D, Gusella JF, Bronson RT, Jacks T (1998) Mice heterozygous for a mutation at the Nf2 tumor suppressor locus develop a range of highly metastatic tumors. Genes Devel 12:1121–1133PubMed McClatchey AI, Saotome I, Mercer K, Crowley D, Gusella JF, Bronson RT, Jacks T (1998) Mice heterozygous for a mutation at the Nf2 tumor suppressor locus develop a range of highly metastatic tumors. Genes Devel 12:1121–1133PubMed
36.
Zurück zum Zitat Messerli SM, Prabhakar S, Tang Y, Mahmood U, Weissleder R, Bronson R, Martuza R, Rabkin S, Breakefield XO (2005) Treatment of Schwannomas with an Oncolytic Recombinant Herpes Simplex Virus in Murine Models of Neurofibromatosis Type 2. Hum Gene Ther Messerli SM, Prabhakar S, Tang Y, Mahmood U, Weissleder R, Bronson R, Martuza R, Rabkin S, Breakefield XO (2005) Treatment of Schwannomas with an Oncolytic Recombinant Herpes Simplex Virus in Murine Models of Neurofibromatosis Type 2. Hum Gene Ther
37.
Zurück zum Zitat Messerli SM, Tang Y, Giovannini M, Bronson R, Weissleder R, Breakefield XO (2002) Detection of spontaneous schwannomas by MRI in a transgenic murine model of neurofibromatosis type 2. Neoplasia 4:501–509PubMedCrossRef Messerli SM, Tang Y, Giovannini M, Bronson R, Weissleder R, Breakefield XO (2002) Detection of spontaneous schwannomas by MRI in a transgenic murine model of neurofibromatosis type 2. Neoplasia 4:501–509PubMedCrossRef
38.
Zurück zum Zitat Mohyuddin A, Baser ME, Watson C, Purcell S, Ramsden RT, Heiberg A, Wallace AJ, Evans DG (2003) Somatic mosaicism in neurofibromatosis 2: prevalence and risk of disease transmission to offspring. J Med Genet 40:459–463CrossRef Mohyuddin A, Baser ME, Watson C, Purcell S, Ramsden RT, Heiberg A, Wallace AJ, Evans DG (2003) Somatic mosaicism in neurofibromatosis 2: prevalence and risk of disease transmission to offspring. J Med Genet 40:459–463CrossRef
39.
Zurück zum Zitat Murray AJ, Hughes TA, Neal JW, Howard E, Evans DG, Harper PS (2006) A case of multiple cutaneous schwannomas; schwannomatosis or neurofibromatosis type 2? J Neurol Neurosurg Psychiatry 77:269–271PubMedCrossRef Murray AJ, Hughes TA, Neal JW, Howard E, Evans DG, Harper PS (2006) A case of multiple cutaneous schwannomas; schwannomatosis or neurofibromatosis type 2? J Neurol Neurosurg Psychiatry 77:269–271PubMedCrossRef
40.
Zurück zum Zitat Nyberg G, Bergstrom M, Enblad P, Lilja A, Muhr C, Langstrom B (1997) PET-methionine of skull base neuromas and meningiomas. Acta Otolaryngol 117:482–489PubMed Nyberg G, Bergstrom M, Enblad P, Lilja A, Muhr C, Langstrom B (1997) PET-methionine of skull base neuromas and meningiomas. Acta Otolaryngol 117:482–489PubMed
41.
Zurück zum Zitat Parry DM, MacCollin MM, Kaiser-Kupfer MI, Pulaski K, Nicholson HS, Bolesta M, Eldridge R, Gusella JF (1996) Germ-line mutations in the neurofibromatosis 2 gene: correlations with disease severity and retinal abnormalities. Am J Hum Genet 59:529–539PubMed Parry DM, MacCollin MM, Kaiser-Kupfer MI, Pulaski K, Nicholson HS, Bolesta M, Eldridge R, Gusella JF (1996) Germ-line mutations in the neurofibromatosis 2 gene: correlations with disease severity and retinal abnormalities. Am J Hum Genet 59:529–539PubMed
42.
Zurück zum Zitat Patronas NJ, Courcoutsakis N, Bromley CM, Katzman GL, MacCollin M, Parry DM (2001) Intramedullary and spinal canal tumors in patients with neurofibromatosis 2: MR imaging findings and correlation with genotype. Radiology 218:434–442PubMed Patronas NJ, Courcoutsakis N, Bromley CM, Katzman GL, MacCollin M, Parry DM (2001) Intramedullary and spinal canal tumors in patients with neurofibromatosis 2: MR imaging findings and correlation with genotype. Radiology 218:434–442PubMed
43.
Zurück zum Zitat Rosenbaum C, Kamleiter M, Grafe P, Kluwe L, Mautner V, Muller HW, Hanemann CO (2000) Enhanced proliferation and potassium conductance of Schwann cells isolated from NF2 schwannomas can be reduced by quinidine. Neurobiol Dis 7:483–491PubMedCrossRef Rosenbaum C, Kamleiter M, Grafe P, Kluwe L, Mautner V, Muller HW, Hanemann CO (2000) Enhanced proliferation and potassium conductance of Schwann cells isolated from NF2 schwannomas can be reduced by quinidine. Neurobiol Dis 7:483–491PubMedCrossRef
44.
Zurück zum Zitat Rosenbaum C, Kluwe L, Mautner VF, Friedrich RE, Mueller HW, Hanemann CO (1998) Isolation and characterization of Schwann cells from neurofibromatosis type 2 patients. Neurobiol Dis 5:55–64PubMedCrossRef Rosenbaum C, Kluwe L, Mautner VF, Friedrich RE, Mueller HW, Hanemann CO (1998) Isolation and characterization of Schwann cells from neurofibromatosis type 2 patients. Neurobiol Dis 5:55–64PubMedCrossRef
45.
Zurück zum Zitat Rowe JG, Radatz MW, Walton L, Soanes T, Rodgers J, Kemeny AA (2003) Clinical experience with gamma knife stereotactic radiosurgery in the management of vestibular schwannomas secondary to type 2 neurofibromatosis. J Neurol Neurosurg Psychiatry 74:1288–1293PubMedCrossRef Rowe JG, Radatz MW, Walton L, Soanes T, Rodgers J, Kemeny AA (2003) Clinical experience with gamma knife stereotactic radiosurgery in the management of vestibular schwannomas secondary to type 2 neurofibromatosis. J Neurol Neurosurg Psychiatry 74:1288–1293PubMedCrossRef
46.
Zurück zum Zitat Ruttledge MH, Andermann AA, Phelan CM, Claudio JO, Han FY, Chretien N, Rangaratnam S, MacCollin M, Short P, Parry D, Michels V, Riccardi VM, Weksberg R, Kitamura K, Bradburn JM, Hall BD, Propping P, Rouleau GA (1996) Type of mutation in the neurofibromatosis type 2 gene (NF2) frequently determines severity of disease. Am J Hum Genet 59:331–342PubMed Ruttledge MH, Andermann AA, Phelan CM, Claudio JO, Han FY, Chretien N, Rangaratnam S, MacCollin M, Short P, Parry D, Michels V, Riccardi VM, Weksberg R, Kitamura K, Bradburn JM, Hall BD, Propping P, Rouleau GA (1996) Type of mutation in the neurofibromatosis type 2 gene (NF2) frequently determines severity of disease. Am J Hum Genet 59:331–342PubMed
47.
Zurück zum Zitat Sakamoto H, Nakai Y, Matsuda M, Ohashi Y, Tsuyuguchi N, Kawabe J, Okamura T, Ochi H (2000) Positron emission tomographic imaging of acoustic neuromas. Acta Otolaryngol Suppl 542:18–21PubMedCrossRef Sakamoto H, Nakai Y, Matsuda M, Ohashi Y, Tsuyuguchi N, Kawabe J, Okamura T, Ochi H (2000) Positron emission tomographic imaging of acoustic neuromas. Acta Otolaryngol Suppl 542:18–21PubMedCrossRef
48.
Zurück zum Zitat Samii M, Matthies C (1997) Management of 1000 vestibular schwannomas (acoustic neuromas): hearing function in 1000 tumor resections. Neurosurgery 40:248–260PubMedCrossRef Samii M, Matthies C (1997) Management of 1000 vestibular schwannomas (acoustic neuromas): hearing function in 1000 tumor resections. Neurosurgery 40:248–260PubMedCrossRef
49.
Zurück zum Zitat Samii M, Matthies C (1997) Management of 1000 vestibular schwannomas (acoustic neuromas): the facial nerve–preservation and restitution of function. Neurosurgery 40:684–694PubMedCrossRef Samii M, Matthies C (1997) Management of 1000 vestibular schwannomas (acoustic neuromas): the facial nerve–preservation and restitution of function. Neurosurgery 40:684–694PubMedCrossRef
50.
Zurück zum Zitat Schneider J, Warzok R, Schreiber D, Guthert H (1983) [Tumors of the central nervous system in biopsy and autopsy material. 7th communication: neurinomas and neurofibromatoses with CNS involvement]. Zentralbl Allg Pathol 127:305–314PubMed Schneider J, Warzok R, Schreiber D, Guthert H (1983) [Tumors of the central nervous system in biopsy and autopsy material. 7th communication: neurinomas and neurofibromatoses with CNS involvement]. Zentralbl Allg Pathol 127:305–314PubMed
51.
Zurück zum Zitat Schulze KM, Hanemann CO, Muller HW, Hanenberg H (2002) Transduction of wild-type merlin into human schwannoma cells decreases schwannoma cell growth and induces apoptosis. Hum Mol Genet 11:69–76PubMedCrossRef Schulze KM, Hanemann CO, Muller HW, Hanenberg H (2002) Transduction of wild-type merlin into human schwannoma cells decreases schwannoma cell growth and induces apoptosis. Hum Mol Genet 11:69–76PubMedCrossRef
52.
Zurück zum Zitat Scoles DR, Nguyen VD, Qin Y, Sun CX, Morrison H, Gutmann DH, Pulst SM (2002) Neurofibromatosis 2 (NF2) tumor suppressor schwannomin and its interacting protein HRS regulate STAT signaling. Hum Mol Genet 11:3179–3189PubMedCrossRef Scoles DR, Nguyen VD, Qin Y, Sun CX, Morrison H, Gutmann DH, Pulst SM (2002) Neurofibromatosis 2 (NF2) tumor suppressor schwannomin and its interacting protein HRS regulate STAT signaling. Hum Mol Genet 11:3179–3189PubMedCrossRef
53.
Zurück zum Zitat Scoles DR, Qin Y, Nguyen V, Gutmann DH, Pulst SM (2005) HRS inhibits EGF receptor signaling in the RT4 rat schwannoma cell line. Biochem Biophys Res Commun 335:385–392PubMedCrossRef Scoles DR, Qin Y, Nguyen V, Gutmann DH, Pulst SM (2005) HRS inhibits EGF receptor signaling in the RT4 rat schwannoma cell line. Biochem Biophys Res Commun 335:385–392PubMedCrossRef
54.
Zurück zum Zitat Shaw RJ, Paez JG, Curto M, Yaktine A, Pruitt WM, Saotome I, O’Bryan JP, Gupta V, Ratner N, Der CJ, Jacks T, McClatchey AI (2001) The Nf2 tumor suppressor, merlin, functions in Rac-dependent signaling. Dev Cell 1:63–72PubMedCrossRef Shaw RJ, Paez JG, Curto M, Yaktine A, Pruitt WM, Saotome I, O’Bryan JP, Gupta V, Ratner N, Der CJ, Jacks T, McClatchey AI (2001) The Nf2 tumor suppressor, merlin, functions in Rac-dependent signaling. Dev Cell 1:63–72PubMedCrossRef
55.
Zurück zum Zitat Slattery WH III, Fisher LM, Iqbal Z, Oppenhiemer M (2004) Vestibular schwannoma growth rates in neurofibromatosis type 2 natural history consortium subjects. Otol Neurotol 25:811–817PubMedCrossRef Slattery WH III, Fisher LM, Iqbal Z, Oppenhiemer M (2004) Vestibular schwannoma growth rates in neurofibromatosis type 2 natural history consortium subjects. Otol Neurotol 25:811–817PubMedCrossRef
56.
Zurück zum Zitat Sobel RA (1993) Vestibular (acoustic) schwannomas: histologic features in neurofibromatosis 2 and in unilateral cases. J Neuropathol Exp Neurol 52:106–113PubMed Sobel RA (1993) Vestibular (acoustic) schwannomas: histologic features in neurofibromatosis 2 and in unilateral cases. J Neuropathol Exp Neurol 52:106–113PubMed
57.
Zurück zum Zitat Sperfeld AD, Hein C, Schroder JM, Ludolph AC, Hanemann CO (2002) Occurrence and characterization of peripheral nerve involvement in neurofibromatosis type 2. Brain 125:996–1004PubMedCrossRef Sperfeld AD, Hein C, Schroder JM, Ludolph AC, Hanemann CO (2002) Occurrence and characterization of peripheral nerve involvement in neurofibromatosis type 2. Brain 125:996–1004PubMedCrossRef
58.
Zurück zum Zitat Thompson N, Lyons J (2005) Recent progress in targeting the Raf/MEK/ERK pathway with inhibitors in cancer drug discovery. Curr Opin Pharmacol 5:350–356PubMedCrossRef Thompson N, Lyons J (2005) Recent progress in targeting the Raf/MEK/ERK pathway with inhibitors in cancer drug discovery. Curr Opin Pharmacol 5:350–356PubMedCrossRef
59.
Zurück zum Zitat Tos M, Charabi S, Thomsen J (1999) Incidence of vestibular schwannomas. Laryngoscope 109:736–740PubMedCrossRef Tos M, Charabi S, Thomsen J (1999) Incidence of vestibular schwannomas. Laryngoscope 109:736–740PubMedCrossRef
60.
Zurück zum Zitat Utermark T, Kaempchen K, Hanemann CO (2003) Pathological adhesion of primary human schwannoma cells is dependent on altered expression of integrins. Brain Pathol 13:352–363PubMedCrossRef Utermark T, Kaempchen K, Hanemann CO (2003) Pathological adhesion of primary human schwannoma cells is dependent on altered expression of integrins. Brain Pathol 13:352–363PubMedCrossRef
61.
Zurück zum Zitat Utermark T, Schubert SJ, Hanemann CO (2005) Rearrangements of the intermediate filament GFAP in primary human schwannoma cells. Neurobiol Dis 19:1–9PubMedCrossRef Utermark T, Schubert SJ, Hanemann CO (2005) Rearrangements of the intermediate filament GFAP in primary human schwannoma cells. Neurobiol Dis 19:1–9PubMedCrossRef
62.
Zurück zum Zitat Warren C, James LA, Ramsden RT, Wallace A, Baser ME, Varley JM, Evans DG (2003) Identification of recurrent regions of chromosome loss and gain in vestibular schwannomas using comparative genomic hybridisation. J Med Genet 40:802–806PubMedCrossRef Warren C, James LA, Ramsden RT, Wallace A, Baser ME, Varley JM, Evans DG (2003) Identification of recurrent regions of chromosome loss and gain in vestibular schwannomas using comparative genomic hybridisation. J Med Genet 40:802–806PubMedCrossRef
63.
Zurück zum Zitat Woods R, Friedman JM, Evans DG, Baser ME, Joe H (2003) Exploring the “two-hit hypothesis” in NF2: tests of two-hit and three-hit models of vestibular schwannoma development. Genet Epidemiol 24:265–272PubMedCrossRef Woods R, Friedman JM, Evans DG, Baser ME, Joe H (2003) Exploring the “two-hit hypothesis” in NF2: tests of two-hit and three-hit models of vestibular schwannoma development. Genet Epidemiol 24:265–272PubMedCrossRef
Metadaten
Titel
News on the genetics, epidemiology, medical care and translational research of Schwannomas
verfasst von
C.O. Hanemann
D.G. Evans
Publikationsdatum
01.12.2006
Erschienen in
Journal of Neurology / Ausgabe 12/2006
Print ISSN: 0340-5354
Elektronische ISSN: 1432-1459
DOI
https://doi.org/10.1007/s00415-006-0347-0

Weitere Artikel der Ausgabe 12/2006

Journal of Neurology 12/2006 Zur Ausgabe

PIONEERS IN NEUROLOGY

Fridtjof Nansen (1861–1930)

Leitlinien kompakt für die Neurologie

Mit medbee Pocketcards sicher entscheiden.

Seit 2022 gehört die medbee GmbH zum Springer Medizin Verlag

Hirnblutung unter DOAK und VKA ähnlich bedrohlich

17.05.2024 Direkte orale Antikoagulanzien Nachrichten

Kommt es zu einer nichttraumatischen Hirnblutung, spielt es keine große Rolle, ob die Betroffenen zuvor direkt wirksame orale Antikoagulanzien oder Marcumar bekommen haben: Die Prognose ist ähnlich schlecht.

Thrombektomie auch bei großen Infarkten von Vorteil

16.05.2024 Ischämischer Schlaganfall Nachrichten

Auch ein sehr ausgedehnter ischämischer Schlaganfall scheint an sich kein Grund zu sein, von einer mechanischen Thrombektomie abzusehen. Dafür spricht die LASTE-Studie, an der Patienten und Patientinnen mit einem ASPECTS von maximal 5 beteiligt waren.

Schwindelursache: Massagepistole lässt Otholiten tanzen

14.05.2024 Benigner Lagerungsschwindel Nachrichten

Wenn jüngere Menschen über ständig rezidivierenden Lagerungsschwindel klagen, könnte eine Massagepistole der Auslöser sein. In JAMA Otolaryngology warnt ein Team vor der Anwendung hochpotenter Geräte im Bereich des Nackens.

Schützt Olivenöl vor dem Tod durch Demenz?

10.05.2024 Morbus Alzheimer Nachrichten

Konsumieren Menschen täglich 7 Gramm Olivenöl, ist ihr Risiko, an einer Demenz zu sterben, um mehr als ein Viertel reduziert – und dies weitgehend unabhängig von ihrer sonstigen Ernährung. Dafür sprechen Auswertungen zweier großer US-Studien.

Update Neurologie

Bestellen Sie unseren Fach-Newsletter und bleiben Sie gut informiert.