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1. Guled M, Lahti L, Lindholm PM, Salmenkivi K, Bagwan I, Nicholson AG, Knuutila S: CDKN2A, NF2, and JUN are dysregulated among other genes by miRNAs in malignant mesothelioma -A miRNA microarray analysis. Genes Chromosomes Cancer; 2009 Jul;48(7):615-23
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  • [Title] CDKN2A, NF2, and JUN are dysregulated among other genes by miRNAs in malignant mesothelioma -A miRNA microarray analysis.
  • Target genes for these miRNAs include the most frequently affected genes in MM such as CDKN2A, NF2, JUN, HGF, and PDGFA.


2. Ramsden R, Khwaja S, Green K, O'Driscoll M, Mawman D: Vestibular schwannoma in the only hearing ear: cochlear implant or auditory brainstem implant? Otol Neurotol; 2005 Mar;26(2):261-4
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  • [Title] Vestibular schwannoma in the only hearing ear: cochlear implant or auditory brainstem implant?
  • OBJECTIVE: To explore the dilemma faced by neurotologists confronted with the patient who develops a vestibular schwannoma in the only hearing ear, the other having been deaf from birth, and to consider the choice between auditory rehabilitation using a cochlear implant (CI) on the congenitally deaf side and an auditory brainstem implant (ABI) on the tumor side.
  • STUDY DESIGN: A record review of two patients born deaf in one ear and who developed a vestibular schwannoma in the contra lateral ear, who then received a CI in the congenitally deaf ear.
  • SETTING: Tertiary referral center with special experience in vestibular schwannoma surgery, neurofibromatosis type 2 management, and cochlear implantation.
  • [MeSH-major] Auditory Brain Stem Implantation. Cochlear Implantation. Deafness / congenital. Hearing Loss, Bilateral / rehabilitation. Neuroma, Acoustic / surgery. Postoperative Complications / rehabilitation
  • [MeSH-minor] Audiometry, Pure-Tone. Follow-Up Studies. Humans. Lipreading. Magnetic Resonance Imaging. Male. Middle Aged. Neurofibromatosis 2 / surgery. Speech Discrimination Tests. Treatment Failure

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  • (PMID = 15793416.001).
  • [ISSN] 1531-7129
  • [Journal-full-title] Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology
  • [ISO-abbreviation] Otol. Neurotol.
  • [Language] eng
  • [Publication-type] Comparative Study; Journal Article
  • [Publication-country] United States
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3. Ju DT, Lin JW, Lin MS, Lee LM, Tseng HM, Wei CP, Yen CH, Hung CC, Hung KS, Lin CM, Lin TJ, Chiu WT, Tsai JT: Hypofractionated CyberKnife stereotactic radiosurgery for acoustic neuromas with and without association to neurofibromatosis Type 2. Acta Neurochir Suppl; 2008;101:169-73
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  • [Title] Hypofractionated CyberKnife stereotactic radiosurgery for acoustic neuromas with and without association to neurofibromatosis Type 2.
  • To treat acoustic neuroma (AN) patients with or without neurofibromatosis Type 2 (NF2) associations, the functional preservation of hearing, trigeminal nerve, and facial nerve are important.
  • Fourteen non-NF2 and seven NF2 patients were enrolled.
  • Two patients experienced hearing deterioration (16.7%) in the non-NF2 group, and 3 patients (50%) in the NF2 group.
  • Hypofractionated CKSRS was not only effective in tumor control but also excellent in hearing preservation for non-NF2 AN.
  • But for NF2 patients, although the tumor control was remarkable, hearing preservation was modest as in non-NF2 patients.
  • [MeSH-major] Neurofibromatosis 2 / surgery. Neuroma, Acoustic / surgery. Radiosurgery / methods


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4. He W, Nuttall AL, Ren T: Two-tone distortion at different longitudinal locations on the basilar membrane. Hear Res; 2007 Jun;228(1-2):112-22
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  • When listening to two tones at frequency f1 and f2 (f2>f1), one can hear pitches not only at f1 and f2 but also at distortion frequencies f2-f1, (n+1)f1-nf2, and (n+1)f2-nf1 (n=1,2,3...).

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  • [Cites] J Acoust Soc Am. 1967 Mar;41(3):676-89 [6045077.001]
  • [Cites] Nat Neurosci. 2004 Apr;7(4):333-4 [15034589.001]
  • [Cites] J Acoust Soc Am. 1980 May;67(5):1704-21 [7372925.001]
  • [Cites] Hear Res. 1980 Jun;2(3-4):527-32 [7410258.001]
  • [Cites] Hear Res. 1982 Jan;6(1):35-59 [7054135.001]
  • [Cites] J Neurophysiol. 1982 Feb;47(2):303-28 [7062102.001]
  • [Cites] Hear Res. 1986;22:95-104 [3733548.001]
  • [Cites] Adv Otorhinolaryngol. 1990;44:1-91 [2407069.001]
  • [Cites] J Acoust Soc Am. 1990 Feb;87(2):782-90 [2307775.001]
  • [Cites] Acta Otolaryngol Suppl. 1989;467:69-75 [2626944.001]
  • [Cites] J Acoust Soc Am. 1990 Jun;87(6):2592-605 [2373794.001]
  • [Cites] Nature. 1991 Jan 31;349(6308):413-4 [1992342.001]
  • [Cites] J Speech Hear Res. 1991 Oct;34(5):964-81 [1749251.001]
  • [Cites] Hear Res. 1993 Mar;66(1):31-45 [8473244.001]
  • [Cites] J Acoust Soc Am. 1993 Sep;94(3 Pt 1):1343-50 [8408975.001]
  • [Cites] J Neurophysiol. 1997 May;77(5):2385-99 [9163365.001]
  • [Cites] Hear Res. 1997 May;107(1-2):41-5 [9165345.001]
  • [Cites] J Neurophysiol. 1997 Jul;78(1):261-70 [9242278.001]
  • [Cites] Eur J Neurosci. 1998 May;10(5):1764-70 [9751148.001]
  • [Cites] J Acoust Soc Am. 1999 Feb;105(2 Pt 1):782-98 [9972564.001]
  • [Cites] J Acoust Soc Am. 2005 May;117(5):2999-3015 [15957770.001]
  • [Cites] J Acoust Soc Am. 2005 Oct;118(4):2434-43 [16266165.001]
  • [Cites] J Neurophysiol. 2006 Nov;96(5):2785-91 [16899644.001]
  • [Cites] ORL J Otorhinolaryngol Relat Spec. 2006;68(6):347-52 [17065828.001]
  • [Cites] Nature. 1999 Dec 2;402(6761):526-9 [10591211.001]
  • [Cites] J Acoust Soc Am. 1999 Dec;106(6):L59-64 [10615711.001]
  • [Cites] J Acoust Soc Am. 2000 Apr;107(4):2112-27 [10790037.001]
  • [Cites] J Acoust Soc Am. 2001 Apr;109(4):1513-25 [11325123.001]
  • [Cites] Physiol Rev. 2001 Jul;81(3):1305-52 [11427697.001]
  • [Cites] Proc Natl Acad Sci U S A. 2002 Dec 24;99(26):17101-6 [12461165.001]
  • [Cites] Arch Otorhinolaryngol. 1979;224(1-2):37-45 [485948.001]
  • (PMID = 17353104.001).
  • [ISSN] 0378-5955
  • [Journal-full-title] Hearing research
  • [ISO-abbreviation] Hear. Res.
  • [Language] ENG
  • [Grant] United States / NIDCD NIH HHS / DC / DC004554-05; United States / NIDCD NIH HHS / DC / DC004554-04; United States / NIDCD NIH HHS / DC / R21 DC006695-01; United States / NIDCD NIH HHS / DC / R21 DC006695; United States / NIDCD NIH HHS / DC / DC006695-01; United States / NIDCD NIH HHS / DC / R01 DC004554-04; United States / NIDCD NIH HHS / DC / R01 DC004554-05; United States / NIDCD NIH HHS / DC / R01 DC004554
  • [Publication-type] Journal Article; Research Support, N.I.H., Extramural
  • [Publication-country] Netherlands
  • [Other-IDs] NLM/ NIHMS23841; NLM/ PMC2041923
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5. Vivier J, Bardien S, Van der Merwe L, Brusnicky J, Zaharie D, Keyser R, Hewlett R, de Jong G, Hartzenberg B: A study of meningiomas in South Africa: investigating a correlation between clinical presentation, histopathology and genetic markers. Br J Neurosurg; 2009 Feb;23(1):63-70
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  • Loss of heterozygosity (LOH) on chromosomes 1p and 22q were investigated and the NF2 gene on 22q12.2 was screened for disease-causing mutations.
  • The histology results showed that 86.8% of the patients had Grade I tumours and the remainder had Grade II tumours.
  • A pathogenic nonsense mutation, R341X in the NF2 gene was found in only one patient.

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  • (PMID = 19234911.001).
  • [ISSN] 1360-046X
  • [Journal-full-title] British journal of neurosurgery
  • [ISO-abbreviation] Br J Neurosurg
  • [Language] eng
  • [Publication-type] Journal Article; Research Support, Non-U.S. Gov't
  • [Publication-country] England
  • [Chemical-registry-number] 0 / Genetic Markers
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6. Izci Y, Secer HI, Gönül E, Ongürü O: Simultaneously occurring vestibular schwannoma and meningioma in the cerebellopontine angle: case report and literature review. Clin Neuropathol; 2007 Sep-Oct;26(5):219-23
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  • [Title] Simultaneously occurring vestibular schwannoma and meningioma in the cerebellopontine angle: case report and literature review.
  • Simultaneously occurring multiple primary brain tumors of different histological types are rare, and the coexistence of schwannoma and meningioma in the same cerebellopontine angle (CPA) without neurofibromatosis is extremely rare.
  • Histopathological examination revealed that the large tumor was a vestibular schwannoma and the smaller was a meningioma.
  • Neurofibromatosis was not diagnosed in the patient.
  • The simultaneous occurrence of vestibular schwannoma and meningioma in the CPA appears coincidental.
  • [MeSH-major] Cerebellar Neoplasms / pathology. Cerebellopontine Angle / pathology. Meningeal Neoplasms / pathology. Meningioma / pathology. Neoplasms, Multiple Primary / pathology. Neuroma, Acoustic / pathology

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  • (PMID = 17907598.001).
  • [ISSN] 0722-5091
  • [Journal-full-title] Clinical neuropathology
  • [ISO-abbreviation] Clin. Neuropathol.
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] Germany
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7. Jallo GI, Kothbauer K, Mehta V, Abbott R, Epstein F: Meningioangiomatosis without neurofibromatosis: a clinical analysis. J Neurosurg; 2005 Oct;103(4 Suppl):319-24
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  • [Title] Meningioangiomatosis without neurofibromatosis: a clinical analysis.
  • This lesion has been reported at time of autopsy in patients with neurofibromatosis (NF) and in case reports of patients without NF Type 2 (NF2).
  • The authors report a series of six patients with meningioangiomatosis who do not have NF2 and describe the clinical presentation, diagnosis of disease, and treatment.
  • All of the children presented with a seizure disorder.
  • CONCLUSIONS: The authors advocate a gross-total resection of meningioangiomatosis for the treatment of seizure disorder in this population.

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  • (PMID = 16270683.001).
  • [ISSN] 0022-3085
  • [Journal-full-title] Journal of neurosurgery
  • [ISO-abbreviation] J. Neurosurg.
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article; Review
  • [Publication-country] United States
  • [Number-of-references] 42
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8. Hansson CM, Buckley PG, Grigelioniene G, Piotrowski A, Hellström AR, Mantripragada K, Jarbo C, Mathiesen T, Dumanski JP: Comprehensive genetic and epigenetic analysis of sporadic meningioma for macro-mutations on 22q and micro-mutations within the NF2 locus. BMC Genomics; 2007;8:16
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  • [Title] Comprehensive genetic and epigenetic analysis of sporadic meningioma for macro-mutations on 22q and micro-mutations within the NF2 locus.
  • The neurofibromatosis type 2 (NF2) tumor suppressor is the only gene known to be frequently involved in early development of meningiomas.
  • A large set of sporadic meningiomas were analyzed for presence of 22q macro-mutations using array-CGH in order to identify tumors carrying gene dosage aberrations not encompassing NF2.
  • The NF2 locus was also comprehensively studied for point mutations within coding and conserved non-coding sequences.
  • Furthermore, CpG methylation within the NF2 promoter region was thoroughly analyzed.
  • RESULTS: Monosomy 22 was the predominant finding, detected in 47% of meningiomas.
  • We defined at least two minimal overlapping regions outside the NF2 locus that are small enough (approximately 550 kb and approximately 250 kb) to allow analysis of a limited number of candidate genes.
  • Bialleinactivationo the NF2 gne was detected in 36% of meningiomas.
  • Among the monosomy 22 cases, no additional NF2 mutations could be identified in 35% (17 out of 49) of tumors.
  • Furthermore, the majority of tumors (9 out of 12) with interstitial/terminal deletions did not have any detectable NF2 mutations.
  • Methylation within the NF2 promoter region was only identified at a single CpG site in one tumor sample.
  • There is a higher frequency of biallelic NF2 inactivation in fibroblastic (52%) compared to meningothelial (18%) tumors.
  • Thus, inactivation of NF2, often combined with the presence of macro-mutation on 22q, is likely not as important for the development of the meningothelial subtype, as opposed to the fibroblastic form.
  • Analysis of 40 CpG sites distributed within 750 bp of the promoter region suggests that NF2 promoter methylation does not play a major role in meningioma development.
  • [MeSH-major] Chromosomes, Human, Pair 22. Epigenesis, Genetic. Genes, Neurofibromatosis 2. Meningeal Neoplasms / genetics. Meningioma / genetics. Mutation

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  • [Cites] J Med Genet. 2005 Jan;42(1):45-8 [15635074.001]
  • [Cites] Cancer Res. 1998 Aug 1;58(15):3226-30 [9699646.001]
  • [Cites] Cancer Res. 2005 Apr 1;65(7):2653-61 [15805262.001]
  • [Cites] Hum Pathol. 2005 Apr;36(4):416-25 [15892004.001]
  • [Cites] J Pathol. 2006 Mar;208(4):564-73 [16353169.001]
  • [Cites] J Neurosci Res. 1999 Dec 1;58(5):706-16 [10561699.001]
  • [Cites] J Neuropathol Exp Neurol. 2000 Oct;59(10):872-9 [11079777.001]
  • [Cites] J Neurosurg. 2001 Jan;94(1):111-7 [11147878.001]
  • [Cites] Genes Cells. 2001 May;6(5):441-54 [11380622.001]
  • [Cites] J Neuropathol Exp Neurol. 2001 Jun;60(6):628-36 [11398839.001]
  • [Cites] J Pathol. 2001 Jul;194(3):367-72 [11439370.001]
  • [Cites] Neuropathology. 2001 Sep;21(3):168-73 [11666013.001]
  • [Cites] Brain Pathol. 2002 Apr;12(2):145-53 [11958368.001]
  • [Cites] Brain Pathol. 2002 Apr;12(2):183-90 [11958372.001]
  • [Cites] Oncogene. 2002 Aug 1;21(33):5108-16 [12140761.001]
  • [Cites] Hum Mol Genet. 2002 Dec 1;11(25):3221-9 [12444106.001]
  • [Cites] Electrophoresis. 2002 Dec;23(24):4072-9 [12481262.001]
  • [Cites] Genes Chromosomes Cancer. 2003 Apr;36(4):361-74 [12619160.001]
  • [Cites] Biotechniques. 2003 Jul;35(1):146-50 [12866414.001]
  • [Cites] Cancer Res. 2003 Jul 15;63(14):4188-95 [12874025.001]
  • [Cites] Mamm Genome. 2003 Aug;14(8):526-36 [12925885.001]
  • [Cites] Oncogene. 2004 Jan 29;23(4):1014-20 [14749765.001]
  • [Cites] Acta Neuropathol. 2004 Nov;108(5):413-21 [15365725.001]
  • [Cites] Nature. 1967 Oct 7;216(5110):84-5 [6050684.001]
  • [Cites] Acta Neurol Scand. 1970;46(1):102-10 [5412623.001]
  • [Cites] J Med Genet. 1986 Apr;23(2):178-80 [3712397.001]
  • [Cites] Proc Natl Acad Sci U S A. 1987 Aug;84(15):5419-23 [3037550.001]
  • [Cites] Proc Natl Acad Sci U S A. 1987 Dec;84(24):9275-9 [2892198.001]
  • [Cites] Cancer Res. 1990 Sep 15;50(18):5863-7 [2393856.001]
  • [Cites] Cell. 1991 Nov 1;67(3):459-68 [1657398.001]
  • [Cites] J Med Genet. 1992 Dec;29(12):841-6 [1479598.001]
  • [Cites] Q J Med. 1992 Aug;84(304):603-18 [1484939.001]
  • [Cites] Nature. 1993 Jun 10;363(6429):515-21 [8379998.001]
  • [Cites] Neurology. 1993 Oct;43(10):2096-8 [8413972.001]
  • [Cites] Am J Med Genet. 1993 Aug 15;47(2):184-6 [8213904.001]
  • [Cites] Cell. 1993 Nov 19;75(4):826 [8242753.001]
  • [Cites] Int J Cancer. 1994 Feb 1;56(3):354-7 [8314321.001]
  • [Cites] Hum Mol Genet. 1994 Jan;3(1):147-51 [8162016.001]
  • [Cites] Nat Genet. 1994 Feb;6(2):180-4 [8162072.001]
  • [Cites] Am J Hum Genet. 1994 Jun;54(6):1022-9 [7911002.001]
  • [Cites] Genes Chromosomes Cancer. 1994 Jun;10(2):122-30 [7520265.001]
  • [Cites] Hum Mol Genet. 1994 Aug;3(8):1393-9 [7987321.001]
  • [Cites] Int J Cancer. 1995 Jan 17;60(2):178-82 [7829212.001]
  • [Cites] Hum Genet. 1995 Mar;95(3):347-51 [7868131.001]
  • [Cites] Am J Pathol. 1995 Apr;146(4):827-32 [7717450.001]
  • [Cites] Am J Med Genet. 1994 Oct 1;52(4):450-61 [7747758.001]
  • [Cites] Genes Chromosomes Cancer. 1995 Jul;13(3):211-6 [7669741.001]
  • [Cites] Hum Genet. 1996 May;97(5):632-7 [8655144.001]
  • [Cites] Hum Genet. 1996 May;97(5):638-41 [8655145.001]
  • [Cites] Mol Biotechnol. 1996 Jun;5(3):233-41 [8837029.001]
  • [Cites] Genes Chromosomes Cancer. 1996 Sep;17(1):45-55 [8889506.001]
  • [Cites] Neurosurgery. 1997 Mar;40(3):578-87 [9055299.001]
  • [Cites] Acta Neuropathol. 1997 Mar;93(3):225-32 [9083553.001]
  • [Cites] Oncogene. 1997 Mar 20;14(11):1295-305 [9178890.001]
  • [Cites] J Neurosci Res. 1998 Feb 1;51(3):403-15 [9486775.001]
  • [Cites] Cancer. 1998 Jul 15;83(2):360-6 [9669820.001]
  • [Cites] Genes Chromosomes Cancer. 2005 Mar;42(3):314-9 [15609345.001]
  • (PMID = 17222329.001).
  • [ISSN] 1471-2164
  • [Journal-full-title] BMC genomics
  • [ISO-abbreviation] BMC Genomics
  • [Language] eng
  • [Publication-type] Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, Non-P.H.S.
  • [Publication-country] England
  • [Other-IDs] NLM/ PMC1781436
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9. Brunner EC, Romeike BF, Jung M, Comtesse N, Meese E: Altered expression of beta-catenin/E-cadherin in meningiomas. Histopathology; 2006 Aug;49(2):178-87
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • The hallmark of tumorigenesis of meningiomas is the loss of chromosome 22, including loss of heterozygosity of the neurofibromatosis type 2 (NF2) gene.
  • The NF2 encoded protein merlin appears to function as a tumour suppressor gene by controlling cadherin-mediated cell-cell adhesion.
  • Cytogenetic analysis of meningiomas showed no correlation between NF2 loss and the loss of the proper location of beta-catenin.
  • CONCLUSIONS: The lack of membranous beta-catenin and/or membranous E-cadherin in meningiomas may indicate an altered interaction between meningioma cells independent of loss of NF2 and independent of the tumour grade.

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  • (PMID = 16879395.001).
  • [ISSN] 0309-0167
  • [Journal-full-title] Histopathology
  • [ISO-abbreviation] Histopathology
  • [Language] eng
  • [Publication-type] Journal Article; Research Support, Non-U.S. Gov't
  • [Publication-country] England
  • [Chemical-registry-number] 0 / Cadherins; 0 / Neurofibromin 2; 0 / beta Catenin
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10. Thaxton C, Lopera J, Bott M, Fernandez-Valle C: Neuregulin and laminin stimulate phosphorylation of the NF2 tumor suppressor in Schwann cells by distinct protein kinase A and p21-activated kinase-dependent pathways. Oncogene; 2008 Apr 24;27(19):2705-15
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  • [Title] Neuregulin and laminin stimulate phosphorylation of the NF2 tumor suppressor in Schwann cells by distinct protein kinase A and p21-activated kinase-dependent pathways.
  • Mutations in the neurofibromatosis type 2 (NF2) gene cause formation of schwannomas and other tumors in the nervous system.
  • The NF2 protein, Schwannomin/Merlin, is a cytoskeleton-associated tumor suppressor regulated by phosphorylation at serine 518 (S518).
  • Moreover, they identify ErbB2, ErbB3 and beta1 integrins as potential therapeutic targets for NF2.


11. Sestini R, Provenzano A, Bacci C, Orlando C, Genuardi M, Papi L: NF2 mutation screening by denaturing high-performance liquid chromatography and high-resolution melting analysis. Genet Test; 2008 Jun;12(2):311-8
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  • [Title] NF2 mutation screening by denaturing high-performance liquid chromatography and high-resolution melting analysis.
  • Neurofibromatosis type 2 (NF2) is an autosomal-dominant disorder caused by mutations in the NF2 gene and predisposing to the development of nervous system.
  • Identification of germline mutations is essential to provide appropriate genetic counseling in NF2 patients, but it represents an extremely challenging task because the vast majority of mutations are unique and spread over the entire coding sequence.
  • Moreover, about 30% of de novo patients are indeed mosaic, and direct sequencing can undetect mutated alleles present in a minority of cells.
  • As most screening techniques do not meet the requirements for efficient NF2 testing, we have developed a semi-automated denaturing high-performance liquid chromatography (DHPLC) method for point mutation detection combined with a multiplex ligation-dependent probe amplification approach to screen for gene rearrangements.
  • In addition, we have evaluated high-resolution melting analysis (HRMA) as an exon scanning procedure to identify point mutations in the NF2 gene.
  • The results obtained in 92 NF2 patients expand the NF2 mutational spectrum and indicate DHPLC and HRMA as good systems to screen for point mutations in diseases with a heterogeneous spectrum of alterations.
  • [MeSH-major] Chromatography, High Pressure Liquid / methods. DNA Mutational Analysis / methods. Genes, Neurofibromatosis 2. Neurofibromatosis 2 / genetics. Neuroma, Acoustic / genetics. Point Mutation

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  • (PMID = 18554169.001).
  • [ISSN] 1090-6576
  • [Journal-full-title] Genetic testing
  • [ISO-abbreviation] Genet. Test.
  • [Language] eng
  • [Publication-type] Evaluation Studies; Journal Article
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / DNA Primers
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12. Chennupati SK, Schipor I, Mirza N: Microdebrider decompression of schwannoma: a novel method of excising a neck mass. Laryngoscope; 2006 Nov;116(11):2086-8
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  • [Title] Microdebrider decompression of schwannoma: a novel method of excising a neck mass.
  • OBJECTIVE: This case report describes the excision of a large neck neurofibroma causing compression of the esophagus and airway in a young patient with neurofibromatosis type 2 (NF2).
  • STUDY DESIGN: The subject of this report was a 26-year-old woman with NF2.
  • [MeSH-major] Debridement. Decompression, Surgical. Head and Neck Neoplasms / surgery. Neuroma, Acoustic / surgery


13. Feucht M, Kluwe L, Mautner VF, Richard G: Correlation of nonsense and frameshift mutations with severity of retinal abnormalities in neurofibromatosis 2. Arch Ophthalmol; 2008 Oct;126(10):1376-80
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  • [Title] Correlation of nonsense and frameshift mutations with severity of retinal abnormalities in neurofibromatosis 2.
  • BACKGROUND: Neurofibromatosis 2 (NF2) is an autosomal dominant disease that is characterized by nervous system tumors and ocular abnormalities.
  • OBJECTIVE: To investigate genotype-phenotype correlations demonstrated for NF2-associated nervous system tumors, cataracts, and retinal lesions.
  • METHODS: Forty-eight patients with NF2 from a tertiary neurological referral center underwent screening for constitutional NF2 mutations with multiple screening methods.
  • CONCLUSIONS: To our knowledge, this is the first genetic, clinical, and angiographic characterization of retinal abnormalities in NF2.
  • Clinical Relevance Retinal abnormalities, which can be revealed by means of fluorescein angiography, are more common in patients with NF2 who have nonsense or frameshift mutations.
  • [MeSH-major] Fluorescein Angiography. Frameshift Mutation. Genes, Neurofibromatosis 2. Neurofibromatosis 2 / epidemiology. Neurofibromatosis 2 / genetics. Retinal Diseases / epidemiology. Retinal Diseases / genetics
  • [MeSH-minor] Adolescent. Adult. Age of Onset. Analysis of Variance. Cataract / diagnosis. Cataract / genetics. Causality. Child. Codon, Nonsense. Cohort Studies. Comorbidity. Confidence Intervals. Female. Genetic Predisposition to Disease. Genetic Testing. Genotype. Humans. Logistic Models. Male. Middle Aged. Odds Ratio. Phenotype. Severity of Illness Index

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  • (PMID = 18852415.001).
  • [ISSN] 1538-3601
  • [Journal-full-title] Archives of ophthalmology (Chicago, Ill. : 1960)
  • [ISO-abbreviation] Arch. Ophthalmol.
  • [Language] eng
  • [Publication-type] Journal Article; Research Support, Non-U.S. Gov't
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / Codon, Nonsense
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14. Bosch MM, Wichmann WW, Boltshauser E, Landau K: Optic nerve sheath meningiomas in patients with neurofibromatosis type 2. Arch Ophthalmol; 2006 Mar;124(3):379-85
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  • [Title] Optic nerve sheath meningiomas in patients with neurofibromatosis type 2.
  • OBJECTIVE: To determine the prevalence of optic nerve sheath meningiomas (ONSMs) in patients with neurofibromatosis type 2 (NF2).
  • METHODS: An observational retrospective case series of 30 consecutive patients with NF2 referred to an academic ophthalmology unit from November 1, 1991, through August 31, 2003.
  • Diagnosis of ONSM was made based on typical neuroradiologic and clinical features in 7 patients and on histologic criteria in 1.
  • RESULTS: Eight of 30 patients harbored unilateral (n = 6) or bilateral (n = 2) ONSMs.
  • CONCLUSIONS: There is a strong association between ONSMs and NF2 that parallels the well-known association of optic nerve gliomas with NF1.
  • Physicians should be aware of the possibility that patients with ONSMs may also have NF2.
  • [MeSH-major] Meningioma / diagnosis. Neurofibromatosis 2 / diagnosis. Optic Nerve Neoplasms / diagnosis

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  • (PMID = 16534058.001).
  • [ISSN] 0003-9950
  • [Journal-full-title] Archives of ophthalmology (Chicago, Ill. : 1960)
  • [ISO-abbreviation] Arch. Ophthalmol.
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] United States
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15. Sabol Z, Kipke-Sabol L, Miklić P, Hajnsek-Propadalo S, Sabol F: [Neurofibromatosis type 2 (central neurofibromatosis or bilateral acoustic neuromas, vestibular schwannomas): from phenotype to gene]. Lijec Vjesn; 2006 Sep-Oct;128(9-10):309-16
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  • [Title] [Neurofibromatosis type 2 (central neurofibromatosis or bilateral acoustic neuromas, vestibular schwannomas): from phenotype to gene].
  • [Transliterated title] Neurofibromatoza tip 2 (centralna neurofibromatoza ili bilateralni akusticki neuromi, vestibularni svanomi): od fenotipa do gena.
  • Neurofibromatosis type 2 (NF2) is an autosomal dominant disease that predisposes to bilateral vestibular schwannomas (neurinomas), other central and peripheral nervous system tumours (multiple meningeomas and neurofibromas) and ocular abnormalities (cataract).
  • The NF2 tumour suppresor gene is localised on chromosome 22q12 and encodes protein called schwannomin or merlin which is related to a family of cytoskeleton-to-membrane proteins linkers ERM (ezrin-radixin-moesin proteins).
  • The majority of observed germline NF2 mutations are point mutations which result in schwannomin with an altered or absent C-terminal domain.
  • NF2 has a variable clinical presentation, with two basic types: severe type having early onset and progressive growth of tumors and the milder type having later onset and less aggressive course.
  • The genotype-phenotype correlations indicate a greater variability of clinical disease expression.
  • In this paper we discuss the epidemiology, genetic and clinical characteristics, diagnostic criteria, investigations, screening for risk persons and recommendations for care and therapy of patients with NF2.
  • [MeSH-major] Neurofibromatosis 2 / genetics. Neuroma, Acoustic / genetics


16. Abbott J, Sivaraj RR, Ng A, Cole TR, MacPherson LK, Ragge NK: Neurofibromatosis type 2 in twins. J Pediatr Ophthalmol Strabismus; 2008 May-Jun;45(3):190-1
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  • [Title] Neurofibromatosis type 2 in twins.
  • [MeSH-major] Diseases in Twins / diagnosis. Ependymoma / pathology. Neurofibromatosis 2 / diagnosis. Neuroma, Acoustic / pathology. Spinal Neoplasms / pathology. Twins, Monozygotic


17. Gerber PA, Antal AS, Neumann NJ, Homey B, Matuschek C, Peiper M, Budach W, Bölke E: Neurofibromatosis. Eur J Med Res; 2009 Mar 17;14(3):102-5
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  • [Title] Neurofibromatosis.
  • Neurofibromatosis (NF) is one of the most common genetic disorders.
  • Inherited in an autosomal dominant fashion, this phacomatosis is classified into two genetically distinct subtypes characterized by multiple cutaneous lesions and tumors of the peripheral and central nervous system.
  • Neurofibromatosis type 1 (NF1), also referred to as Recklinghausen's disease, affects about 1 in 3500 individuals and presents with a variety of characteristic abnormalities of the skin and the peripheral nervous system.
  • Neurofibromatosis type 2 (NF2), previously termed central neurofibromatosis, is much more rare occurring in less than 1 in 25 000 individuals.
  • Often first clinical signs of NF2 become apparent in the late teens with a sudden loss of hearing due to the development of bi- or unilateral vestibular schwannomas.
  • In addition NF2 patients may suffer from further nervous tissue tumors such as meningiomas or gliomas.
  • This review summarizes the characteristic features of the two forms of NF and outlines commonalities and distinctions between NF1 and NF2.
  • [MeSH-major] Neurofibromatosis 1 / pathology. Neurofibromatosis 2 / pathology

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  • [Cites] Neurologist. 2006 Mar;12(2):86-93 [16534445.001]
  • [Cites] N Engl J Med. 2005 Apr 28;352(17):1799 [15858189.001]
  • [Cites] Lancet Neurol. 2007 Apr;6(4):340-51 [17362838.001]
  • [Cites] J Cell Biol. 2007 Jun 4;177(5):893-903 [17548515.001]
  • [Cites] World J Gastroenterol. 2007 Jun 28;13(24):3384-7 [17659681.001]
  • [Cites] Annu Rev Pathol. 2007;2:191-216 [18039098.001]
  • [Cites] Biochim Biophys Acta. 2008 Jan;1785(1):32-54 [17980164.001]
  • [Cites] Semin Ophthalmol. 2008 Jan-Feb;23(1):45-51 [18214791.001]
  • [Cites] Hum Pathol. 2008 May;39(5):633-40 [18439936.001]
  • [Cites] Nat Clin Pract Oncol. 2008 Aug;5(8):487-91 [18560388.001]
  • [Cites] Lancet. 2008 Aug 23;372(9639):639-45 [18722868.001]
  • [Cites] Cancer. 2009 Jan 15;115(2):390-8 [19109818.001]
  • [Cites] Ment Retard Dev Disabil Res Rev. 2000;6(2):117-24 [10899804.001]
  • [Cites] Am J Med Genet. 2000 Summer;97(2):119-27 [11180219.001]
  • [Cites] CMAJ. 2002 Aug 6;167(3):282-3 [12186179.001]
  • [Cites] Curr Opin Neurol. 2003 Feb;16(1):27-33 [12544854.001]
  • [Cites] Hum Mutat. 2003 Nov;22(5):420 [14517963.001]
  • [Cites] Genes Chromosomes Cancer. 2003 Dec;38(4):389-99 [14566860.001]
  • [Cites] Neurobiol Dis. 2004 Jun;16(1):85-91 [15207265.001]
  • [Cites] N Engl J Med. 1981 Dec 31;305(27):1617-27 [6796886.001]
  • [Cites] Am J Hum Genet. 1989 Jan;44(1):20-4 [2491776.001]
  • [Cites] Science. 1990 Jul 13;249(4965):181-6 [2134734.001]
  • [Cites] Neurosurgery. 1997 Apr;40(4):696-705; discussion 705-6 [9092842.001]
  • [Cites] JAMA. 1997 Jul 2;278(1):51-7 [9207339.001]
  • [Cites] J Neurooncol. 2007 Apr;82(2):187-92 [17111191.001]
  • (PMID = 19380279.001).
  • [ISSN] 0949-2321
  • [Journal-full-title] European journal of medical research
  • [ISO-abbreviation] Eur. J. Med. Res.
  • [Language] eng
  • [Publication-type] Journal Article; Review
  • [Publication-country] Germany
  • [Number-of-references] 25
  • [Other-IDs] NLM/ PMC3352057
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18. Sekido Y: Molecular biology of malignant mesothelioma. Environ Health Prev Med; 2008 Mar;13(2):65-70
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  • Malignant mesothelioma presents with the frequent inactivation of tumor suppressor genes of p16(INK4a)/p14(ARF) on chromosome 9p21 and neurofibromatosis type 2 (NF2) on chromosome 22q12, with the latter being responsible for the NF2 familial cancer syndrome.


19. Farrell CJ, Plotkin SR: Genetic causes of brain tumors: neurofibromatosis, tuberous sclerosis, von Hippel-Lindau, and other syndromes. Neurol Clin; 2007 Nov;25(4):925-46, viii
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  • [Title] Genetic causes of brain tumors: neurofibromatosis, tuberous sclerosis, von Hippel-Lindau, and other syndromes.
  • Several familial syndromes are associated with an increased incidence of nervous system tumors.
  • The hereditary syndromes and diseases included in this review are limited to those associated with brain tumors: neurofibromatosis 1, neurofibromatosis 2, tuberous sclerosis complex, von Hippel-Lindau disease, and the less frequently encountered Cowden disease and Li-Fraumeni, Turcot's, and Gorlin's syndromes.
  • [MeSH-major] Brain Neoplasms / genetics. Colorectal Neoplasms / genetics. Neurofibromatoses / genetics. Tuberous Sclerosis / genetics. von Hippel-Lindau Disease / genetics
  • [MeSH-minor] Brain / pathology. Chromosomes, Human, Pair 17 / genetics. Genes, Neurofibromatosis 1. Genes, Neurofibromatosis 2. Humans. Li-Fraumeni Syndrome / epidemiology. Li-Fraumeni Syndrome / genetics. Magnetic Resonance Imaging. Molecular Biology / methods. Syndrome


20. Neff BA, Voss SG, Allen C, Schroeder MA, Driscoll CL, Link MJ, Galanis E, Sarkaria JN: Bioluminescent imaging of intracranial vestibular schwannoma xenografts in NOD/SCID mice. Otol Neurotol; 2009 Jan;30(1):105-11
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  • [Title] Bioluminescent imaging of intracranial vestibular schwannoma xenografts in NOD/SCID mice.
  • HYPOTHESIS: Intracranial vestibular schwannoma xenografts can be successfully established and followed with bioluminescent imaging (BLI).
  • BACKGROUND: Transgenic and xenograft mouse models of vestibular schwannomas have been previously reported in the literature.
  • However, none of these models replicate the intracranial location of these tumors to reflect the human disease.
  • METHODS: Patient excised vestibular schwannomas were cultured and transduced with firefly luciferase expressing lentivirus.
  • Schwannoma engraftment and growth was prospectively followed for 30 weeks after injection with BLI.
  • RESULTS: Eight (38%) of 21 mice successfully engrafted the schwannoma cells.
  • Fluorescent in situ hybridization analysis confirmed the presence of viable human schwannoma cells in much greater numbers in those mice with stable or growing tumors compared with those whose tumors regressed.
  • CONCLUSION: We have successfully established an intracranial schwannoma xenograft model that can be followed with noninvasive BLI.
  • We hope to use this model for in vivo testing of schwannoma tumor therapies.
  • [MeSH-major] Neuroma, Acoustic / surgery
  • [MeSH-minor] Animals. Brain / pathology. Brain / surgery. Female. Genes, Neurofibromatosis 2. Humans. In Situ Hybridization, Fluorescence. Lentivirus / isolation & purification. Luminescent Measurements / methods. Magnetic Resonance Imaging. Mice. Mice, Inbred NOD. Mice, Knockout. Mice, SCID. Neoplasm Transplantation. Transplantation, Heterologous

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  • [Cites] Cancer Res. 2003 Nov 1;63(21):7042-6 [14612492.001]
  • [Cites] Prostate. 2004 May 15;59(3):292-303 [15042605.001]
  • [Cites] Am J Otolaryngol. 1996 Jul-Aug;17(4):228-32 [8827286.001]
  • [Cites] Am J Otol. 1997 Sep;18(5):622-6 [9303159.001]
  • [Cites] Blood. 1998 Oct 15;92(8):2908-13 [9763577.001]
  • [Cites] Genes Dev. 1999 Apr 15;13(8):978-86 [10215625.001]
  • [Cites] Cancer Lett. 2005 Jan 20;217(2):243-53 [15617843.001]
  • [Cites] Neuro Oncol. 2005 Apr;7(2):164-76 [15831234.001]
  • [Cites] Hum Gene Ther. 2006 Jan;17(1):20-30 [16409122.001]
  • [Cites] Otol Neurotol. 2006 Jun;27(4):547-52 [16791048.001]
  • [Cites] Laryngoscope. 2006 Nov;116(11):2018-26 [17075413.001]
  • [Cites] Leuk Lymphoma. 2007 Apr;48(4):659-68 [17454623.001]
  • [Cites] Clin Exp Metastasis. 2007;24(5):389-401 [17541709.001]
  • [Cites] J Neurosurg. 2007 Sep;107(3):610-6 [17886562.001]
  • [Cites] Biotechnol Lett. 2007 Nov;29(11):1665-70 [17609854.001]
  • [Cites] Cancer Res. 2007 Dec 15;67(24):11859-66 [18089816.001]
  • [Cites] ILAR J. 2008;49(1):103-15 [18172337.001]
  • [Cites] J Neurosurg. 2000 Feb;92(2):306-14 [10659019.001]
  • [Cites] Genes Dev. 2000 Jul 1;14(13):1617-30 [10887156.001]
  • (PMID = 18931645.001).
  • [ISSN] 1537-4505
  • [Journal-full-title] Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology
  • [ISO-abbreviation] Otol. Neurotol.
  • [Language] eng
  • [Grant] United States / NCI NIH HHS / CA / P50 CA108961; United States / NCI NIH HHS / CA / P50 CA108961-07
  • [Publication-type] Journal Article; Research Support, Non-U.S. Gov't
  • [Publication-country] United States
  • [Other-IDs] NLM/ NIHMS322037; NLM/ PMC3918230
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21. Maher ER: Genetics of phaeochromocytoma. Br Med Bull; 2006;79-80:141-51
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  • The identification of individuals with phaeochromocytoma susceptibility disorders (e.g. von Hippel-Lindau disease, succinate dehydrogenase subunit mutations, multiple endocrine neoplasia type 2 and neurofibromatosis type 1) is important because of the opportunity to reduce morbidity and mortality from phaeochromocytoma and other relevant tumours in affected individuals and their at-risk relatives.
  • Recent studies have also provided clues to the molecular pathogenesis of phaeochromocytoma development in familial cases and suggest that this differs from that seen in sporadic non-inherited cases.
  • [MeSH-major] Adrenal Gland Neoplasms / genetics. Genetic Predisposition to Disease / genetics. Germ-Line Mutation / genetics. Pheochromocytoma / genetics

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  • (PMID = 17339275.001).
  • [ISSN] 0007-1420
  • [Journal-full-title] British medical bulletin
  • [ISO-abbreviation] Br. Med. Bull.
  • [Language] eng
  • [Publication-type] Journal Article; Research Support, Non-U.S. Gov't; Review
  • [Publication-country] England
  • [Number-of-references] 68
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22. Wowra B, Muacevic A, Jess-Hempen A, Hempel JM, Müller-Schunk S, Tonn JC: Outpatient gamma knife surgery for vestibular schwannoma: definition of the therapeutic profile based on a 10-year experience. J Neurosurg; 2005 Jan;102(s_supplement):114-118
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  • [Title] Outpatient gamma knife surgery for vestibular schwannoma: definition of the therapeutic profile based on a 10-year experience.
  • OBJECT: The purpose of the study was to define the therapeutic profile of outpatient gamma knife surgery (GKS) for vestibular schwannoma (VS) by using sequential tumor volumetry to quantify changes following treatment.
  • Thirty-seven patients (33%) had undergone surgery before GKS and 10 (9%) had neurofibromatosis Type 2 (NF2).
  • Recurrence was significantly associated with NF2 (p < 0.003) and the reduced dose (p < 0.03) delivered to these tumors.
  • Trigeminal neuropathy occurred in 13 patients, and this was correlated with the VS volume (p < 0.02).
  • The risk of hearing loss was correlated with age and transient tumor swelling (p < 0.05) but not with dose parameters or NF2.

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  • (PMID = 28306422.001).
  • [ISSN] 1933-0693
  • [Journal-full-title] Journal of neurosurgery
  • [ISO-abbreviation] J. Neurosurg.
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] United States
  • [Keywords] NOTNLM ; gamma knife surgery / tumor volumetry / vestibular schwannoma
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23. Yako K, Morita A, Ueki K, Kirino T: Subfrontal schwannoma. Acta Neurochir (Wien); 2005 Jun;147(6):655-7; discussion 657-8
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  • [Title] Subfrontal schwannoma.
  • Subfrontal schwannoma is a rare disease, which can be mis-diagnosed as an olfactory meningioma or a neuroblastoma, because of similar clinical symptoms and signs and neuroradiological features.
  • We report a case of 14-year old boy in which olfactory neuroblastoma was suspected prior to surgery, but turned out to be a schwannoma histologically.
  • Molecular genetic examination revealed neither NF2 gene mutation nor loss of heterozygosity of chromosome 22q, unlike common schwannomas.
  • [MeSH-major] Brain Neoplasms / diagnosis. Frontal Lobe / pathology. Frontal Lobe / radiography. Neurilemmoma / diagnosis
  • [MeSH-minor] Adolescent. Diagnosis, Differential. Humans. Male. Neuroblastoma / diagnosis

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  • (PMID = 15824881.001).
  • [ISSN] 0001-6268
  • [Journal-full-title] Acta neurochirurgica
  • [ISO-abbreviation] Acta Neurochir (Wien)
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] Austria
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24. Holland K, Kaye AH: Spinal tumors in neurofibromatosis-2: management considerations - a review. J Clin Neurosci; 2009 Feb;16(2):169-77
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  • [Title] Spinal tumors in neurofibromatosis-2: management considerations - a review.
  • Neurofibromatosis Type 2 (NF-2) is a distinct clinical entity, characterized by multiple intracranial and spinal tumors.
  • While bilateral vestibular schwannomas are the pathological hallmark of the disease, significant morbidity in NF-2 is attributable to the presence of both intramedullary and extramedullary spinal tumors.
  • With the advent of MRI as a screening modality, multiple, extensive spinal tumors in the NF-2 population are often seen, which may be clinically quiescent at the time of initial diagnosis.
  • All NF-2 patients should have routine screening with full spinal MRI at the time of diagnosis, regardless of symptoms.
  • [MeSH-major] Neurofibromatosis 2 / diagnosis. Neurofibromatosis 2 / therapy. Spinal Neoplasms / diagnosis. Spinal Neoplasms / therapy

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  • (PMID = 19101145.001).
  • [ISSN] 0967-5868
  • [Journal-full-title] Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia
  • [ISO-abbreviation] J Clin Neurosci
  • [Language] eng
  • [Publication-type] Journal Article; Review
  • [Publication-country] Scotland
  • [Number-of-references] 44
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25. Hadrane L, Waterkeyn F, Ghijselings L, Dhaene N, Gille M: [Neurosyphilis revealed by a multiple cranial neuropathy: magnetic resonance imaging findings]. Rev Neurol (Paris); 2008 Mar;164(3):253-7
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  • [Transliterated title] Neurosyphilis révélée par une atteinte multiple des nerfs crâniens: apport de l'imagerie par résonance magnétique nucléaire.
  • They can also mimic neurofibromatosis type II.
  • [MeSH-major] Cranial Nerve Diseases / diagnosis. Neurosyphilis / diagnosis

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  • (PMID = 18405776.001).
  • [ISSN] 0035-3787
  • [Journal-full-title] Revue neurologique
  • [ISO-abbreviation] Rev. Neurol. (Paris)
  • [Language] fre
  • [Publication-type] Case Reports; English Abstract; Journal Article
  • [Publication-country] France
  • [Chemical-registry-number] 0 / Anti-Bacterial Agents; 0 / Cardiolipins; 0 / Immunoglobulin G; 0 / Penicillins; 0 / Phosphatidylcholines; 0 / VDRL antigen; 97C5T2UQ7J / Cholesterol
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26. Chang LS, Welling DB: Molecular biology of vestibular schwannomas. Methods Mol Biol; 2009;493:163-77
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  • [Title] Molecular biology of vestibular schwannomas.
  • Recent advances in molecular biology have led to a better understanding of the etiology of vestibular schwannomas.
  • The underlying purpose of vestibular schwannoma research is the development of new treatment options; however, such options have not yet been established.
  • A fundamental understanding of the underlying molecular events leading to tumor formation began when mutations in the neurofibromatosis type 2 (NF2) tumor suppressor gene were identified in vestibular schwannomas.
  • The clinical characteristics of vestibular schwannomas and neurofibromatosis type 2 (NF2) syndromes have both been related to alterations in the NF2 gene.
  • Genetic screening for NF2 is now available.
  • When utilized with clinical screening, such as magnetic resonance imaging (MRI), conventional audiometry, and auditory brainstem response (ABR), the early detection of NF2 can be made, which consequently makes a significant difference in the ability to successfully treat vestibular schwannomas.
  • Additionally, the signaling pathways affected by merlin, the product of the NF2 gene, are becoming better understood.
  • Nf2-transgenic and knockout mice as well as vestibular schwannoma xenograft models are now ready for novel therapeutic testing.
  • [MeSH-major] Mutation. Neurofibromin 2 / genetics. Neuroma, Acoustic / genetics
  • [MeSH-minor] Animals. DNA Mutational Analysis. Genetic Predisposition to Disease. Humans. Magnetic Resonance Imaging. Mice. Mice, Knockout. Mice, SCID. Mice, Transgenic. Neurofibromatosis 2 / genetics. Neurofibromatosis 2 / pathology

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  • (PMID = 18839347.001).
  • [ISSN] 1064-3745
  • [Journal-full-title] Methods in molecular biology (Clifton, N.J.)
  • [ISO-abbreviation] Methods Mol. Biol.
  • [Language] eng
  • [Publication-type] Journal Article; Research Support, N.I.H., Extramural; Research Support, U.S. Gov't, Non-P.H.S.
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / Neurofibromin 2
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27. McCreery DB: Cochlear nucleus auditory prostheses. Hear Res; 2008 Aug;242(1-2):64-73
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • Worldwide, more than 500 persons have received these "auditory brainstem implants," most commonly after removal of the tumors that occur with Type 2 Neurofibromatosis (NF2).
  • The feasibility of supplementing the array of surface electrodes with penetrating microstimulating electrodes has been investigated in animal studies, and 10 persons with NF2 have received implants that include a surface array and an array of penetrating microelectrodes.
  • Their speech perception is not significantly better than that of the NF2 patients who have only the surface arrays, but the findings do validate the concept of intranuclear stimulation and suggest how such prostheses might be improved by modifying the microstimulating array and also by optimizing the sound processing strategies.
  • Recent publications have described ABI patients with deafness of etiologies other than NF2 who have achieved open-set speech recognition.
  • This suggests that the cochlear nuclei of the NF2 patients are damaged by the disease process or during surgical removal of the tumor.
  • [MeSH-minor] Deafness / etiology. Deafness / physiopathology. Electric Stimulation. Humans. Microelectrodes. Neurofibromatosis 2 / complications. Neurofibromatosis 2 / physiopathology. Speech Perception / physiology

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  • (PMID = 18207678.001).
  • [ISSN] 0378-5955
  • [Journal-full-title] Hearing research
  • [ISO-abbreviation] Hear. Res.
  • [Language] eng
  • [Grant] United States / NIDCD NIH HHS / DC / N01-DC-2400; United States / NIDCD NIH HHS / DC / N01-DC-4-0005
  • [Publication-type] Journal Article; Research Support, N.I.H., Extramural
  • [Publication-country] Netherlands
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28. Rousselot C, Francois P, Jan M, Bergemer AM: [Report of seven cases of clear-cell meningioma and a literature review]. Ann Pathol; 2010 Apr;30(2):73-82
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  • [Transliterated title] Etude de sept cas de méningiomes à cellules claires et revue de la littérature.
  • Three patients belonged to the same family, probably affected by neurofibromatosis type 2.
  • Follow-up ranged from 3 months to 15 years: recurrence occurred in four patients, three of whom eventually died from the disease.
  • [MeSH-minor] Adult. Aged. Astrocytoma / diagnosis. Child, Preschool. Diagnostic Errors. Ependymoma / diagnosis. Female. Humans. Keratins / analysis. Ki-67 Antigen / analysis. Male. Middle Aged. Mucin-1 / analysis. Neurofibromatosis 2 / diagnosis. Neurofibromatosis 2 / genetics. Neurofibromatosis 2 / pathology. Receptors, Progesterone / analysis. Retrospective Studies. S100 Proteins / analysis. Young Adult

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  • [Copyright] Copyright 2010 Elsevier Masson SAS. All rights reserved.
  • (PMID = 20451062.001).
  • [ISSN] 0242-6498
  • [Journal-full-title] Annales de pathologie
  • [ISO-abbreviation] Ann Pathol
  • [Language] fre
  • [Publication-type] English Abstract; Journal Article; Review
  • [Publication-country] France
  • [Chemical-registry-number] 0 / Biomarkers, Tumor; 0 / Ki-67 Antigen; 0 / Mucin-1; 0 / Neoplasm Proteins; 0 / Receptors, Progesterone; 0 / S100 Proteins; 68238-35-7 / Keratins
  • [Number-of-references] 33
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29. El Shehaby A, Ganz JC, Reda WA, Hafez A: Mechanisms of edema after gamma knife surgery for meningiomas. Report of two cases. J Neurosurg; 2005 Jan;102 Suppl:1-3
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  • One had neurofibromatosis Type 2 with multiple tumors, one of which was parasagittal.

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  • (PMID = 15662770.001).
  • [ISSN] 0022-3085
  • [Journal-full-title] Journal of neurosurgery
  • [ISO-abbreviation] J. Neurosurg.
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / Anti-Inflammatory Agents; 0 / Anticonvulsants; 6158TKW0C5 / Phenytoin; 7S5I7G3JQL / Dexamethasone
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30. Hasegawa T, Kida Y, Yoshimoto M, Koike J, Goto K: Evaluation of tumor expansion after stereotactic radiosurgery in patients harboring vestibular schwannomas. Neurosurgery; 2006 Jun;58(6):1119-28; discussion 1119-28
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Evaluation of tumor expansion after stereotactic radiosurgery in patients harboring vestibular schwannomas.
  • OBJECTIVE: Stereotactic radiosurgery has been accepted as a safe and effective treatment in patients harboring a vestibular schwannoma.
  • Our purpose was to clarify what type of tumor expansion requires additional treatment.
  • METHODS: Between May 1991 and December 1998, 346 patients with a vestibular schwannoma, excluding two with neurofibromatosis, were treated using gamma knife radiosurgery.
  • Tumor expansion was classified into three types: central necrosis (Type A), solid expansion (Type B), and cyst enlargement or formation (Type C).
  • Type A, B, and C expansion was found in 14, 16, and 12 patients, respectively.
  • Of these, three Type A patients, seven Type B patients, and seven Type C patients underwent salvage treatments.
  • [MeSH-major] Magnetic Resonance Imaging. Neuroma, Acoustic / diagnosis. Neuroma, Acoustic / surgery. Radiosurgery / adverse effects

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  • (PMID = 16723891.001).
  • [ISSN] 1524-4040
  • [Journal-full-title] Neurosurgery
  • [ISO-abbreviation] Neurosurgery
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] United States
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31. Kluwe L, Nygren AO, Errami A, Heinrich B, Matthies C, Tatagiba M, Mautner V: Screening for large mutations of the NF2 gene. Genes Chromosomes Cancer; 2005 Apr;42(4):384-91
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Screening for large mutations of the NF2 gene.
  • Neurofibromatosis 2 (NF2) is a genetic disorder caused by mutational inactivation of the NF2 gene and is characterized by bilateral vestibular schwannomas, spinal tumors, and other benign tumors of the nervous system.
  • Previously, we found intragenic NF2 mutations in 99 of 188 unrelated NF2 patients by exon-scanning-based methods.
  • Tumor analysis of 22 de novo NF2 patients led to the identification of 12 additional constitutive NF2 mutations.
  • One deletion of a single exon, seven deletions of multiple exons, seven deletions involving the 3' or 5' end of the NF2 gene, four deletions involving the whole NF2 gene, and one duplication of three exons were detected.
  • Thus, deletions, duplications, and insertions affecting the NF2 gene were found in 21 cases, which is 11% of the 188 unrelated NF2 patients studied, 16% of the 132 mutations identified, and 27% of the 77 cases in which no intragenic small mutations were detected by exon scanning.
  • [MeSH-major] Genes, Neurofibromatosis 2. Mutation

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  • [Copyright] (c) 2005 Wiley-Liss, Inc.
  • (PMID = 15645494.001).
  • [ISSN] 1045-2257
  • [Journal-full-title] Genes, chromosomes & cancer
  • [ISO-abbreviation] Genes Chromosomes Cancer
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / RNA, Messenger
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32. McLaughlin ME, Pepin SM, Maccollin M, Choopong P, Lessell S: Ocular pathologic findings of neurofibromatosis type 2. Arch Ophthalmol; 2007 Mar;125(3):389-94
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Ocular pathologic findings of neurofibromatosis type 2.
  • OBJECTIVE: To gain insight into the pathogenesis of neurofibromatosis type 2 (NF2) by investigating the ocular manifestations of this disease.
  • METHODS: Using standard histologic techniques, immunohistochemistry, and electron microscopy, we described the ocular pathologic findings of a 34-year-old woman who died from complications of NF2.
  • RESULTS: We identified 3 types of NF2-associated lesions: juvenile posterior subcapsular cataracts, epiretinal membranes, and an intrascleral schwannoma.
  • CONCLUSIONS: Our analysis indicated that dysplastic lens cells accumulate just anterior to the posterior lens capsule in juvenile posterior subcapsular cataracts and that dysplastic Müller cells may be a major component of NF2-associated epiretinal membranes.
  • Clinical Relevance Our findings suggest that a subset of glial cells with epithelial features (Schwann cells, ependymal cells, and Müller cells) may be particularly sensitive to loss of the NF2 gene.
  • Understanding the molecular basis for this sensitivity may lead to novel strategies for treating NF2.
  • [MeSH-major] Cataract / pathology. Epiretinal Membrane / pathology. Eye Neoplasms / pathology. Neurilemmoma / pathology. Neurofibromatosis 2 / pathology. Scleral Diseases / pathology


33. Miettinen M: From morphological to molecular diagnosis of soft tissue tumors. Adv Exp Med Biol; 2006;587:99-113
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  • [Title] From morphological to molecular diagnosis of soft tissue tumors.
  • Many sarcomas are known to have such fusions, and the demonstration of the fusion transcripts in tumor tissue is of great value in specific diagnosis of synovial sarcoma (SYT-SSX), Ewing sarcoma (EWS-Fli1), clear cell sarcoma (EWS-ATF1), myxoid liposarcoma (FUS-CHOP), and other sarcomas.
  • These translocations are believed to be disease-specific and pathogenetic forces, despite occasional observations to the contrary.
  • Demonstration of SYT-SSX and EWS-ATF1 fusion assists in the diagnosis of synovial and clear cell sarcomas in unusual locations, such as the gastrointestinal tract, where these tumors occur with low frequency.
  • Thus, the target cell of the genetic change is an important factor to define the resulting disease.
  • Activating mutations in two related receptor tyrosine kinases (RTKs), KIT, and platelet-derived growth factor receptor alpha (PDGFRA) is central to the pathogenesis of gastrointestinal stromal tumors (GISTs), and countering the mutational activation by specific tyrosine kinase inhibitors, such as Imatinib mesylate, is now standard treatment for metastatic GISTs.
  • Mutation type influences therapy responsiveness, but fortunately very few GISTs carry primarily Imatinib-resistant mutations.
  • Loss of NF2 tumor suppressor gene in a biallelic fashion is believed to be central in the pathogenesis of neurofibromatosis 2 (NF2) associated and sporadic schwannomas and meningiomas.
  • The mechanism includes nonsense or missense mutation in NF2 gene, and loss of the other NF2 allele as a part of losses in chromosome 22q.
  • Schwannoma types may differ in their pathogenesis: gastrointestinal schwannomas lack NF2 changes suggesting a different pathogenesis.
  • Intraneural and sclerosing perineuriomas display similar NF2 gene alterations as seen in meningioma, indicating a similar pathogenesis and molecular homology.

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  • (PMID = 17163160.001).
  • [ISSN] 0065-2598
  • [Journal-full-title] Advances in experimental medicine and biology
  • [ISO-abbreviation] Adv. Exp. Med. Biol.
  • [Language] eng
  • [Publication-type] Journal Article; Review
  • [Publication-country] United States
  • [Number-of-references] 70
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34. Michalowski MB, de Fraipont F, Plantaz D, Michelland S, Combaret V, Favrot MC: Methylation of tumor-suppressor genes in neuroblastoma: The RASSF1A gene is almost always methylated in primary tumors. Pediatr Blood Cancer; 2008 Jan;50(1):29-32
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  • In the present study, we investigated whether specific epigenetic alterations are associated with stage of disease.
  • PROCEDURE: Sixty-two NBs (45 primary tumors and 17 NBs at relapse) were studied in terms of the methylation status of 19 genes (p15INK4a, p16INK4a, p14ARF, APC, RB1, RASSF1A, BLU, FHIT, RARbeta, INI1, TIMP3, NF2, MGMT, DAPK, FLIP, ECAD, CASP8, and the receptors DcR1 and DcR2).
  • RESULTS: At diagnosis, we found hypermethylation of RASSF1A in 93% of these tumors, hypermethylation of TIMP3 in 51%, of CASP8 in 38%, of BLU in 34%, of DcR2 in 25%, and of DcR1 in 11%.
  • Hypermethylation was related to clinical stage; NBs at stages 1, 2, and 4s were less frequently methylated than stages 3 and 4 disease (P = 0.002).
  • These epigenetic alterations could be used as a marker of the disease and genes regulating methylation should be considered as possible therapeutic targets in NB.

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  • [Copyright] (c) 2007 Wiley-Liss, Inc.
  • (PMID = 17570703.001).
  • [ISSN] 1545-5017
  • [Journal-full-title] Pediatric blood & cancer
  • [ISO-abbreviation] Pediatr Blood Cancer
  • [Language] eng
  • [Publication-type] Journal Article; Research Support, Non-U.S. Gov't
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / GPI-Linked Proteins; 0 / RASSF1 protein, human; 0 / TIMP3 protein, human; 0 / TNFRSF10C protein, human; 0 / TNFRSF10D protein, human; 0 / Tissue Inhibitor of Metalloproteinase-3; 0 / Tumor Necrosis Factor Decoy Receptors; 0 / Tumor Suppressor Proteins; 0 / ZMYND10 protein, human; EC 3.4.22.- / CASP8 protein, human; EC 3.4.22.- / Caspase 8
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35. Gusachenko AM, Akhmamet'eva EM, Omel'ianchuk LV: [Range of potential functions of the Drosophila melanogaster hdc gene]. Genetika; 2006 Jan;42(1):58-64
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  • Amino acid sequence analysis of the Hdc protein revealed a region homologous to the human HRS proteins, which directly interact with the NF2 tumor suppressor on experimental evidence.

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  • (PMID = 16523666.001).
  • [ISSN] 0016-6758
  • [Journal-full-title] Genetika
  • [ISO-abbreviation] Genetika
  • [Language] rus
  • [Publication-type] English Abstract; Journal Article
  • [Publication-country] Russia (Federation)
  • [Chemical-registry-number] 0 / Drosophila Proteins; 0 / headcase protein, Drosophila
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36. Sone M, Katayama N, Otake N, Sato E, Fujimoto Y, Ito M, Nakashima T: Characterizing the auditory changes in tumor metastasis to the bilateral internal auditory canals. J Clin Neurosci; 2007 May;14(5):470-3
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  • [Title] Characterizing the auditory changes in tumor metastasis to the bilateral internal auditory canals.
  • We report the changes in auditory function in a patient with tumor metastasis to the bilateral internal auditory canals (IAC).
  • Metastatic tumors in the bilateral IAC have been reported to mimic neurofibromatosis type 2, and radiological differentiation from acoustic schwannoma is difficult.
  • [MeSH-minor] Acoustic Stimulation / methods. Adenocarcinoma / pathology. Gastrointestinal Neoplasms / pathology. Humans. Male. Middle Aged

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  • (PMID = 17386369.001).
  • [ISSN] 0967-5868
  • [Journal-full-title] Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia
  • [ISO-abbreviation] J Clin Neurosci
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] Scotland
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37. Delsanti C, Roche PH, Thomassin JM, Régis J: Morphological changes of vestibular schwannomas after radiosurgical treatment: pitfalls and diagnosis of failure. Prog Neurol Surg; 2008;21:93-7
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Morphological changes of vestibular schwannomas after radiosurgical treatment: pitfalls and diagnosis of failure.
  • METHODS: 332 non-neurofibromatosis type 2 vestibular schwannomas not previously treated surgically or radiosurgically were subjected to Gamma Knife radiosurgery between 1992 and 2004 at the Gamma Knife Center in Marseille with at least three sequential MRI scans after radiosurgery.
  • A progressive and continuous growth at 3 years is essential to make diagnosis of failure.
  • [MeSH-major] Diagnostic Errors. Magnetic Resonance Imaging. Neuroma, Acoustic / pathology. Neuroma, Acoustic / surgery. Radiosurgery

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  • (PMID = 18810205.001).
  • [ISSN] 0079-6492
  • [Journal-full-title] Progress in neurological surgery
  • [ISO-abbreviation] Prog Neurol Surg
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] Switzerland
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38. Feucht M, Richard G, Mautner VF: Neurofibromatosis 2 leads to choroidal hyperfluorescence in fluorescein angiography. Graefes Arch Clin Exp Ophthalmol; 2007 Jul;245(7):949-53
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  • [Title] Neurofibromatosis 2 leads to choroidal hyperfluorescence in fluorescein angiography.
  • BACKGROUND: For the diagnosis of NF 2, ocular findings like juvenile cataract, retinal and combined hamartomas of the retinal pigment epithelium and the retina as well as tumours of the optic nerve play an important role.
  • An early diagnosis is essential in order to inhibit deafness from bilateral vestibular schwannoma.
  • But sometimes the Manchester diagnostic criteria for NF2 are not completely fulfilled.
  • Frequently, suspicious macular anatomy is found in neurofibromatosis 2 (NF2) patients.
  • We hypothesise that the underlying retinal pigment epithelium or the retina of the macular region alters in NF2 patients.
  • Therefore, we have tested by fluorescence angiography whether NF2 is associated with chorioretinal changes.
  • METHODS AND PATIENTS: In a prospective study, 48 patients matching the criteria for NF2 with known genotype underwent a complete ophthalmic examination including funduscopy and fluorescence angiography.
  • These choroidal findings were present in one patient with frameshift mutation, in two patients with nonsense mutations and in six patients with splice site mutations of the NF2 gene.
  • CONCLUSION: Using fluorescence angiography pathological changes of the macular region can be detected in NF2 patients.
  • The ophthalmic examination, which often is limited to the anterior eye segment, may play a role in finding the diagnosis in incomplete NIH criteria.
  • Choroidal hyperfluorescences add to the spectrum of genotype-phenotype correlations in NF2.
  • [MeSH-major] Choroid Diseases / etiology. Fluorescein Angiography. Fluorescence. Neurofibromatosis 2 / complications. Retinal Diseases / etiology

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  • [Cites] Br J Ophthalmol. 1993 Jun;77(6):354-7 [8318482.001]
  • [Cites] J Pediatr Ophthalmol Strabismus. 1991 Nov-Dec;28(6):320-2 [1757856.001]
  • [Cites] Q J Med. 1992 Aug;84(304):603-18 [1484939.001]
  • [Cites] Ophthalmology. 2003 Jan;110(1):34-40 [12511343.001]
  • [Cites] Neurosurgery. 1996 May;38(5):880-5; discussion 885-6 [8727812.001]
  • [Cites] Trans Am Ophthalmol Soc. 1995;93:245-52; discussion 252-7 [8719681.001]
  • [Cites] AJR Am J Roentgenol. 1995 Oct;165(4):951-5 [7676998.001]
  • [Cites] J Med Genet. 2003 Oct;40(10):758-60 [14569124.001]
  • [Cites] Neurology. 1993 Mar;43(3 Pt 1):622-3 [8451014.001]
  • [Cites] N Engl J Med. 1986 Dec 11;315(24):1553-4 [3097542.001]
  • [Cites] Ophthalmology. 2002 Nov;109(11):2052-7 [12414414.001]
  • [Cites] Br J Ophthalmol. 1991 Mar;75(3):190 [1901496.001]
  • [Cites] Nature. 1993 Jun 10;363(6429):515-21 [8379998.001]
  • [Cites] Am J Ophthalmol. 1995 Nov;120(5):634-41 [7485365.001]
  • [Cites] Arch Ophthalmol. 1990 Mar;108(3):328-9 [2310328.001]
  • [Cites] Neurosurgery. 1993 Jul;33(1):92-6 [8355853.001]
  • [Cites] Arch Ophthalmol. 1989 Apr;107(4):541-4 [2705922.001]
  • [Cites] Br J Ophthalmol. 1993 Oct;77(10):646-9 [8218034.001]
  • [Cites] Am J Med Genet. 1994 Oct 1;52(4):450-61 [7747758.001]
  • [Cites] Am J Hum Genet. 2004 Aug;75(2):231-9 [15190457.001]
  • (PMID = 17186263.001).
  • [ISSN] 0721-832X
  • [Journal-full-title] Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie
  • [ISO-abbreviation] Graefes Arch. Clin. Exp. Ophthalmol.
  • [Language] eng
  • [Publication-type] Journal Article; Research Support, Non-U.S. Gov't
  • [Publication-country] Germany
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39. Prabhakar S, Messerli SM, Stemmer-Rachamimov AO, Liu TC, Rabkin S, Martuza R, Breakefield XO: Treatment of implantable NF2 schwannoma tumor models with oncolytic herpes simplex virus G47Delta. Cancer Gene Ther; 2007 May;14(5):460-7
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Treatment of implantable NF2 schwannoma tumor models with oncolytic herpes simplex virus G47Delta.
  • Two schwannoma cell lines were used to generate subcutaneous tumors in nude mice: HEI193, an immortalized human line previously established from an NF2 patient and NF2S-1, a newly generated spontaneous mouse line.
  • Subcutaneous HEI193 tumors grew about ten times as fast as NF2S-1 tumors, and both regressed substantially following injection of G47Delta.
  • Complete regression of HEI193 tumors was achieved in most animals, whereas all NF2S-1 tumors resumed growth within 2 weeks after vector injection.
  • These studies provide a new schwannoma model for testing therapeutic strategies and demonstrate that oncolytic HSV vectors can be successfully used to shrink growing schwannomas.
  • [MeSH-major] Disease Models, Animal. Mice. Neurilemmoma / therapy. Neuroendocrine Tumors / therapy. Oncolytic Virotherapy / methods. Oncolytic Viruses. Simplexvirus


40. White JB, Scheithauer BW, Amrami KK, Babovic-Vuksanovic D, Spinner RJ: Contiguous conventional and plexiform schwannomas. Report of two cases. J Neurosurg; 2006 Feb;104(2):319-24
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • The authors present clinical, imaging, and histological features of two adult patients found to harbor a conventional schwannoma contiguous with a deep plexiform schwannoma.
  • One patient had neurofibromatosis (NF) Type 2 (NF2), and both intracranial (bilateral oculomotor, trigeminal, acoustic, and hypoglossal schwannomas as well as meningiomas) and intraspinal (schwannomas and meningiomas) lesions.
  • The proximal forearm lesions consisted of a conventional schwannoma and an underlying plexiform component.
  • The second patient, who did not have NF2, presented with a similar enlarging mass in the distal arm; two contiguous lesions were resected.
  • Plexiform schwannomas are rare lesions that occur sporadically or, on occasion, in association with NF2 or meningiomas with or without multiple schwannomas.
  • The authors believe that a more careful examination of patients with NF2 may show that these people have a higher incidence of plexiform schwannoma than previously thought.
  • To the best of the authors' knowledge, this is the first report of a conventional schwannoma contiguous with a deep plexiform schwannoma.
  • [MeSH-major] Meningeal Neoplasms / pathology. Meningioma / pathology. Neurilemmoma / pathology. Neurofibroma, Plexiform / pathology. Neurofibromatosis 2 / complications

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  • (PMID = 16509508.001).
  • [ISSN] 0022-3085
  • [Journal-full-title] Journal of neurosurgery
  • [ISO-abbreviation] J. Neurosurg.
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] United States
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41. Kabil MS, Shahinian HK: A series of 112 fully endoscopic resections of vestibular schwannomas. Minim Invasive Neurosurg; 2006 Dec;49(6):362-8
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  • [Title] A series of 112 fully endoscopic resections of vestibular schwannomas.
  • We report a consecutive series of 112 patients with unilateral vestibular schwannoma (VS) having undergone fully endoscopic resection of their tumors in the period from October, 2001 to January, 2005.
  • The patient population consisted of 112 consecutive cases with unilateral, "de novo" VS(s); patients with neurofibromatosis type 2 (NFT2) or with a recurrent tumor were excluded from this study.
  • From our experience, we conclude that the endoscope is ideally suited for a minimally invasive approach for the resection of vestibular schwannomas.
  • [MeSH-major] Endoscopy. Neuroma, Acoustic / surgery
  • [MeSH-minor] Adult. Aged. Audiometry, Pure-Tone. Dominance, Cerebral / physiology. Female. Humans. Magnetic Resonance Imaging. Male. Microsurgery. Middle Aged. Postoperative Complications / diagnosis. Postoperative Complications / etiology. Tomography, X-Ray Computed

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  • (PMID = 17323265.001).
  • [ISSN] 0946-7211
  • [Journal-full-title] Minimally invasive neurosurgery : MIN
  • [ISO-abbreviation] Minim Invasive Neurosurg
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] Germany
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42. Lee JY, Moon HJ, Lee WK, Chun HJ, Han CW, Jeon YW, Lim Y, Kim YH, Yao TP, Lee KH, Jun TY, Rha HK, Kang JK: Merlin facilitates ubiquitination and degradation of transactivation-responsive RNA-binding protein. Oncogene; 2006 Feb 23;25(8):1143-52
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  • The Nf2 tumor suppressor codes for merlin, a protein whose function is largely unknown.

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  • [Copyright] Oncogene (2006) 25, 1143-1152. doi:10.1038/sj.onc.1209150; published online 10 October 2005.
  • (PMID = 16247459.001).
  • [ISSN] 0950-9232
  • [Journal-full-title] Oncogene
  • [ISO-abbreviation] Oncogene
  • [Language] eng
  • [Publication-type] Journal Article; Research Support, Non-U.S. Gov't
  • [Publication-country] England
  • [Chemical-registry-number] 0 / Leupeptins; 0 / Neurofibromin 2; 0 / RNA, Small Interfering; 0 / RNA-Binding Proteins; 0 / Ubiquitin; 133407-82-6 / benzyloxycarbonylleucyl-leucyl-leucine aldehyde; 136628-24-5 / trans-activation responsive RNA-binding protein
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43. Lu-Emerson C, Plotkin SR: The Neurofibromatoses. Part 1: NF1. Rev Neurol Dis; 2009;6(2):E47-53
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  • [Title] The Neurofibromatoses. Part 1: NF1.
  • The neurofibromatoses, including neurofibromatosis 1 (NF1), neurofibromatosis 2 (NF2), and schwannomatosis, comprise a group of genetically distinct disorders of the nervous system unified by the predisposition to nerve sheath tumors.
  • NF1 is the most common neurogenetic disorder, with a birth incidence of 1 in 3000.
  • [MeSH-major] Bone and Bones / pathology. Nervous System / pathology. Neurofibromatosis 1 / diagnosis. Neurofibromatosis 1 / genetics. Skin / pathology
  • [MeSH-minor] Brain / pathology. Brain / physiopathology. Cafe-au-Lait Spots / genetics. Cafe-au-Lait Spots / pathology. Cafe-au-Lait Spots / physiopathology. Eye / pathology. Eye / physiopathology. Genes, Tumor Suppressor / physiology. Humans. Neurofibromatoses / genetics. Neurofibromatoses / pathology. Neurofibromatoses / physiopathology. Peripheral Nervous System / pathology. Peripheral Nervous System / physiopathology

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  • (PMID = 19587630.001).
  • [ISSN] 1949-4378
  • [Journal-full-title] Reviews in neurological diseases
  • [ISO-abbreviation] Rev Neurol Dis
  • [Language] eng
  • [Publication-type] Journal Article; Review
  • [Publication-country] United States
  • [Number-of-references] 33
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44. Cotticelli L, Romano M, Russo S, Borrelli M: Neurofibromatosis type 2: a case of ptosis. Graefes Arch Clin Exp Ophthalmol; 2007 Sep;245(9):1393-6
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  • [Title] Neurofibromatosis type 2: a case of ptosis.
  • BACKGROUND: Neurofibromatosis type 2 (NF2) is a disorder usually diagnosed later in life since the features are subtle in children.
  • The hallmark is bilateral vestibular schwannomas, which may not appear until after the second decade.
  • Here is described a rare case of NF2 associated with a superior rectus muscle paralysis and severe ptosis.
  • CASE REPORT: A 17-year-old patient with NF2 was referred to us with diagnosis of left-eye superior rectus muscle paralysis, with a later onset of unilateral severe ptosis.
  • The patient showed positive familiar history for NF (the father was affected), bilateral involvement of the acoustic nerves (schwannoma), multiple neurofibromas, and bilateral posterior subcapsular lens opacity.
  • Magnetic resonance imaging (MRI) showed bilateral acoustic neuromas in the left temporal region close to the cavernous sinus; since neurological examination and ocular motility problems had remained stationary over time, surgical correction of ptosis and strabismus was suggested.
  • CONCLUSION: Palpebral ptosis has rarely been reported in NF2.
  • [MeSH-major] Blepharoptosis / complications. Neurofibromatosis 2 / complications. Oculomotor Muscles / pathology. Ophthalmoplegia / complications

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  • [Cites] Br J Ophthalmol. 1993 Oct;77(10):662-72 [8218038.001]
  • [Cites] Curr Opin Neurol. 2003 Feb;16(1):27-33 [12544854.001]
  • [Cites] Br J Ophthalmol. 1986 Oct;70(10):732-6 [3096370.001]
  • [Cites] J Pediatr Ophthalmol Strabismus. 1996 Jul-Aug;33(4):255-9 [8827563.001]
  • [Cites] Nature. 1993 Jun 10;363(6429):515-21 [8379998.001]
  • [Cites] Neurology. 2001 May 8;56(9):1222-4 [11342693.001]
  • [Cites] J AAPOS. 2001 Feb;5(1):9-12 [11182665.001]
  • [Cites] J Neurol Neurosurg Psychiatry. 2006 Feb;77(2):269-71 [16421138.001]
  • [Cites] J Invest Dermatol. 2000 May;114(5):1017-21 [10771486.001]
  • [Cites] Eye (Lond). 1997;11 ( Pt 1):12-8 [9246269.001]
  • [Cites] Am J Med Genet. 1994 Oct 1;52(4):450-61 [7747758.001]
  • (PMID = 17347811.001).
  • [ISSN] 0721-832X
  • [Journal-full-title] Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie
  • [ISO-abbreviation] Graefes Arch. Clin. Exp. Ophthalmol.
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] Germany
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45. Samii M, Gerganov V, Samii A: Microsurgery management of vestibular schwannomas in neurofibromatosis type 2: indications and results. Prog Neurol Surg; 2008;21:169-75
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  • [Title] Microsurgery management of vestibular schwannomas in neurofibromatosis type 2: indications and results.
  • AIM: To analyze the senior author's experience and strategy of treatment of patients with neurofibromatosis type 2 (NF2), with particular emphasis on vestibular schwannoma (VS) surgery.
  • MATERIALS AND METHODS: Over a period of more than 35 years, the senior author (M.S.) has operated on more than 165 patients with NF2.
  • Bilateral hearing after surgery was preserved in 23% of the patients.
  • CONCLUSIONS: The goal of VS surgery in patients with NF2 should be complete removal but not at the expense of functional impairment.
  • [MeSH-major] Microsurgery. Neurofibromatosis 2 / pathology. Neurofibromatosis 2 / surgery

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  • (PMID = 18810216.001).
  • [ISSN] 0079-6492
  • [Journal-full-title] Progress in neurological surgery
  • [ISO-abbreviation] Prog Neurol Surg
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] Switzerland
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46. Morrison H, Sperka T, Manent J, Giovannini M, Ponta H, Herrlich P: Merlin/neurofibromatosis type 2 suppresses growth by inhibiting the activation of Ras and Rac. Cancer Res; 2007 Jan 15;67(2):520-7
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  • [Title] Merlin/neurofibromatosis type 2 suppresses growth by inhibiting the activation of Ras and Rac.
  • Prolonged or persistent arrest in the activated GTP-loaded state by mutation of Ras as in lung cancer or in a Ras-GTPase-activating protein as in neurofibromatosis type 1 promotes tumorigenesis.
  • We now show that the tumor-suppressor protein merlin (mutated in neurofibromatosis type 2) also controls Ras activity.


47. Nyberg G, Kinnefors A, Gudjonson O, Svedberg A, Edfeldt L, Rask-Andersen H: [Brain stem implant can restore hearing. Treatment of deafness in bilateral acoustic neuroma]. Lakartidningen; 2007 Nov 21-27;104(47):3553-6
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  • [Title] [Brain stem implant can restore hearing. Treatment of deafness in bilateral acoustic neuroma].
  • [MeSH-major] Auditory Brain Stem Implantation. Deafness / surgery. Neurofibromatosis 2 / surgery. Neuroma, Acoustic / surgery


48. Strauss C, Bischoff B, Romstöck J, Rachinger J, Rampp S, Prell J: Hearing preservation in medial vestibular schwannomas. J Neurosurg; 2008 Jul;109(1):70-6
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Hearing preservation in medial vestibular schwannomas.
  • OBJECT: Vestibular schwannomas (VSs) with no or little extension into the internal auditory canal have been addressed as a clinical subentity carrying a poor prognosis regarding hearing preservation, which is attributed to the initially asymptomatic intracisternal growth pattern.
  • Tumor removal was complete in all patients with hearing preservation, except for 2 patients with neurofibromatosis.
  • In 4 patients a planned subtotal excision was performed due to the individual's age or underlying disease.
  • [MeSH-major] Hearing / physiology. Neuroma, Acoustic / physiopathology. Neuroma, Acoustic / surgery

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  • (PMID = 18590434.001).
  • [ISSN] 0022-3085
  • [Journal-full-title] Journal of neurosurgery
  • [ISO-abbreviation] J. Neurosurg.
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] United States
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49. Crea KN, Shivdasani MN, Argent RE, Mauger SJ, Rathbone GD, O'Leary SJ, Paolini AG: Acute cochlear nucleus compression alters tuning properties of inferior colliculus neurons. Audiol Neurootol; 2010;15(1):18-26
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  • Auditory brainstem implants (ABI) have been used in neurofibromatosis type 2 (NF2) patients in an attempt to restore hearing sensation, with limited clinical success.
  • Factors associated with poor clinical outcomes for NF2 ABI patients include larger tumour size, longer duration of hearing loss, and brainstem distortion and/or deformation caused by tumours that compress the brainstem.
  • NF2 patients may have poorer ABI performance due to damage to the physical structure of the CN, resulting in alterations to the tonotopic organisation of the auditory pathway which may complicate ABI implantation and activation.
  • [MeSH-minor] Acoustic Stimulation. Analysis of Variance. Animals. Auditory Brain Stem Implants. Auditory Perception / physiology. Electrodes, Implanted. Electrophysiology. Male. Rats. Rats, Wistar. Staining and Labeling. Time Factors

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  • (PMID = 19451706.001).
  • [ISSN] 1421-9700
  • [Journal-full-title] Audiology & neuro-otology
  • [ISO-abbreviation] Audiol. Neurootol.
  • [Language] eng
  • [Publication-type] Journal Article; Research Support, Non-U.S. Gov't
  • [Publication-country] Switzerland
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50. Feiden S, Sartorius E, Feiden W: [The role of diagnostic neuropathology in familial tumour syndromes]. Pathologe; 2010 Oct;31(6):464-70
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  • [Title] [The role of diagnostic neuropathology in familial tumour syndromes].
  • Inherited cancer syndromes often involve the central and peripheral nervous system.
  • For the surgical neuropathologist the possibility in individual patients of a familial tumour syndrome needs to be considered in the case of special tumours such as malignant peripheral nerve sheath tumour (MPNST), medulloblastoma with extensive nodularity (MBEN) or even atypical teratoid/rhabdoid tumour (AT/RT) of the brain.
  • Furthermore, tumour location and patient age may point to a familial tumour syndrome as in the case of neurofibromatosis type 2 (NF2) with typical bilateral vestibular schwannoma in young age.
  • This short review discusses some of the diagnostic aspects in this field relating to neurofibromatosis type 1 and 2 (NF1, NF2), as well as the two rare tumors MBEN in Gorlin-Goltz syndrome and AT/RT in particular.
  • [MeSH-minor] Central Nervous System Neoplasms / genetics. Central Nervous System Neoplasms / pathology. Chromosome Mapping. Chromosomes, Human, Pair 16. Chromosomes, Human, Pair 17. Chromosomes, Human, Pair 22. Chromosomes, Human, Pair 9. Genes, Neurofibromatosis 1. Genes, Neurofibromatosis 2. Humans. Li-Fraumeni Syndrome / genetics. Li-Fraumeni Syndrome / pathology. Neurofibromatosis 1 / genetics. Neurofibromatosis 1 / pathology. Neurofibromatosis 2 / genetics. Neurofibromatosis 2 / pathology. Neuroma, Acoustic / genetics. Neuroma, Acoustic / pathology. Peripheral Nervous System Neoplasms / genetics. Peripheral Nervous System Neoplasms / pathology. Rhabdoid Tumor / genetics. Rhabdoid Tumor / pathology. Teratoma / genetics. Teratoma / pathology. Tuberous Sclerosis / genetics. Tuberous Sclerosis / pathology

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  • [Cites] Genet Med. 2010 Jan;12(1):1-11 [20027112.001]
  • [Cites] Genet Med. 2009 Sep;11(9):599-610 [19652604.001]
  • [Cites] Clin Cancer Res. 2009 Apr 1;15(7):2463-71 [19276247.001]
  • [Cites] Acta Neuropathol. 2007 Aug;114(2):97-109 [17618441.001]
  • [Cites] J Neurosurg. 1999 Dec;91(6):971-7 [10584843.001]
  • (PMID = 20848106.001).
  • [ISSN] 1432-1963
  • [Journal-full-title] Der Pathologe
  • [ISO-abbreviation] Pathologe
  • [Language] ger
  • [Publication-type] English Abstract; Journal Article; Review
  • [Publication-country] Germany
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51. Dorogova NV, Akhmametyeva EM, Kopyl SA, Gubanova NV, Yudina OS, Omelyanchuk LV, Chang LS: The role of Drosophila Merlin in spermatogenesis. BMC Cell Biol; 2008;9:1
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • BACKGROUND: Drosophila Merlin, the homolog of the human Neurofibromatosis 2 (NF2) gene, is important for the regulation of cell proliferation and receptor endocytosis.
  • We also demonstrate that the lethality and sterility phenotype of the Mer4 mutant is rescued by the introduction of a wild-type Merlin gene.
  • Immunostaining demonstrates that the Merlin protein is redistributed to the area associated with the microtubules of the central spindle in telophase and its staining is less in the region of the contractile ring during meiotic cytokinesis.

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  • [Cites] J Cell Biol. 1998 Jun 29;141(7):1589-99 [9647651.001]
  • [Cites] J Neurosci Res. 1998 Feb 1;51(3):403-15 [9486775.001]
  • [Cites] Genetics. 2001 Jun;158(2):667-79 [11404331.001]
  • [Cites] Mol Cell Biol. 2001 Sep;21(18):6280-91 [11509670.001]
  • [Cites] Science. 2001 Nov 16;294(5546):1531-3 [11711676.001]
  • [Cites] Nat Rev Mol Cell Biol. 2002 Aug;3(8):586-99 [12154370.001]
  • [Cites] Proc Natl Acad Sci U S A. 2002 Aug 20;99(17):11211-6 [12149515.001]
  • [Cites] Development. 2003 May;130(9):1805-16 [12642486.001]
  • [Cites] Genes Dev. 2003 May 1;17(9):1090-100 [12695331.001]
  • [Cites] Mol Biol Cell. 2003 Nov;14(11):4628-40 [14551252.001]
  • [Cites] Cytogenet Genome Res. 2003;103(3-4):337-44 [15051957.001]
  • [Cites] Biol Reprod. 2004 May;70(5):1400-10 [14724135.001]
  • [Cites] Mol Biol Cell. 2004 May;15(5):2509-22 [15004238.001]
  • [Cites] J Embryol Exp Morphol. 1979 Oct;53:345-51 [119823.001]
  • [Cites] Cell. 1993 Mar 12;72(5):791-800 [8453669.001]
  • [Cites] Nature. 1993 Jun 10;363(6429):515-21 [8379998.001]
  • [Cites] Int J Dev Biol. 1994 Dec;38(4):565-90 [7779680.001]
  • [Cites] Development. 1998 May;125(10):1833-43 [9550716.001]
  • [Cites] Trends Biochem Sci. 1998 Aug;23(8):281-2 [9757824.001]
  • [Cites] Semin Cell Dev Biol. 1998 Aug;9(4):433-44 [9813190.001]
  • [Cites] Genes Dev. 2005 Oct 1;19(19):2265-77 [16204178.001]
  • [Cites] BMC Evol Biol. 2005;5:69 [16324214.001]
  • [Cites] Nat Cell Biol. 2006 Jan;8(1):27-36 [16341207.001]
  • [Cites] Curr Biol. 2006 Apr 4;16(7):702-9 [16581517.001]
  • [Cites] Mol Cell Biol. 2006 May;26(9):3610-24 [16612000.001]
  • [Cites] Nature. 2006 Aug 3;442(7102):576-9 [16885985.001]
  • [Cites] Nat Genet. 2006 Oct;38(10):1142-50 [16980976.001]
  • [Cites] Curr Biol. 2006 Nov 7;16(21):2081-9 [16996266.001]
  • [Cites] Dev Biol. 2007 Apr 1;304(1):102-15 [17258190.001]
  • [Cites] Trends Cell Biol. 2007 May;17(5):222-9 [17442573.001]
  • [Cites] J Cell Biol. 2007 Jun 4;177(5):893-903 [17548515.001]
  • [Cites] Hum Mol Genet. 2007 Jul 15;16(14):1742-51 [17566081.001]
  • [Cites] J Cell Biol. 1996 May;133(4):843-52 [8666669.001]
  • [Cites] Genetics. 1997 May;146(1):245-52 [9136014.001]
  • [Cites] Cell. 1997 Jul 11;90(1):121-9 [9230308.001]
  • [Cites] Development. 2001 Mar;128(5):665-73 [11171392.001]
  • (PMID = 18186933.001).
  • [ISSN] 1471-2121
  • [Journal-full-title] BMC cell biology
  • [ISO-abbreviation] BMC Cell Biol.
  • [Language] eng
  • [Publication-type] Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, Non-P.H.S.
  • [Publication-country] England
  • [Chemical-registry-number] 0 / Membrane Proteins; 0 / Neurofibromin 2; 0 / merlin, Drosophila
  • [Other-IDs] NLM/ PMC2253521
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52. Battista RA: Gamma knife radiosurgery for vestibular schwannoma. Otolaryngol Clin North Am; 2009 Aug;42(4):635-54
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Gamma knife radiosurgery for vestibular schwannoma.
  • Since Leksell first treated a patient who had a vestibular schwannoma in 1967, there has been a year-to-year increase in the number of patients treated with the gamma knife for vestibular schwannoma.
  • This article outlines the technique of GKRS and discusses the current results of its use to treat vestibular schwannomas.
  • Other topics discussed include tumor control, treatment of recurrent/residual and cystic vestibular schwannomas, and the results of treatment of neurofibromatosis type 2.
  • [MeSH-major] Neuroma, Acoustic / pathology. Neuroma, Acoustic / surgery. Radiation Injuries / prevention & control. Radiosurgery / methods

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  • (PMID = 19751869.001).
  • [ISSN] 1557-8259
  • [Journal-full-title] Otolaryngologic clinics of North America
  • [ISO-abbreviation] Otolaryngol. Clin. North Am.
  • [Language] eng
  • [Publication-type] Journal Article; Review
  • [Publication-country] United States
  • [Number-of-references] 62
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53. Girard N: [Imaging features of neurofibromatosis type 2]. J Neuroradiol; 2005 Jun;32(3):198-203
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] [Imaging features of neurofibromatosis type 2].
  • [Transliterated title] Imagerie de la neurofibromatose de type 2.
  • Neurofibromatosis type 2 (NF2) is a separate entity from von Recklinghausen's disease (NF1) and is much less frequent than NF1.
  • The major feature of NF2 is the presence in nearly all affected individuals of bilateral vestibular schwannomas.
  • Imaging of the entire central nervous system is necessary, including evaluation of the cerebral parenchyma, the pontocerebellar angles, the spinal cord as well as the lumbar nerve roots, because the affected individuals can develop tumours from schwann cells, meningeal cells and from ependymocytes.
  • [MeSH-major] Central Nervous System Neoplasms / pathology. Neurofibromatosis 2 / pathology

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  • (PMID = 16134301.001).
  • [ISSN] 0150-9861
  • [Journal-full-title] Journal of neuroradiology. Journal de neuroradiologie
  • [ISO-abbreviation] J Neuroradiol
  • [Language] fre
  • [Publication-type] English Abstract; Journal Article; Review
  • [Publication-country] France
  • [Number-of-references] 14
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54. Zhao B, Wei X, Li W, Udan RS, Yang Q, Kim J, Xie J, Ikenoue T, Yu J, Li L, Zheng P, Ye K, Chinnaiyan A, Halder G, Lai ZC, Guan KL: Inactivation of YAP oncoprotein by the Hippo pathway is involved in cell contact inhibition and tissue growth control. Genes Dev; 2007 Nov 1;21(21):2747-61
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  • Although recent genetic studies have shown that the Hippo pathway is regulated by the NF2 and Fat tumor suppressors, the physiological regulations of this pathway are unknown.


55. Sun JQ, Han DM, Li YX, Gong SS, Zan HR, Wang T: Combined endoscope-assisted translabyrinthine subtemporal keyhole approach for vestibular Schwannoma and auditory midbrain implantation: Cadaveric study. Acta Otolaryngol; 2010 Oct;130(10):1125-9
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  • [Title] Combined endoscope-assisted translabyrinthine subtemporal keyhole approach for vestibular Schwannoma and auditory midbrain implantation: Cadaveric study.
  • As a minimally invasive approach, this can be considered an effective method for removal of vestibular schwannoma and auditory midbrain implantation in the same surgical setting, while avoiding retraction of the cerebellum and serious adverse events and complications.
  • OBJECTIVES: Patients with neurofibromatosis type II are the initial candidates for auditory midbrain implantation; the appropriate surgical approach should allow for tumor removal and electrode implantation in the same surgical setting.
  • [MeSH-major] Ear, Inner / surgery. Electrodes, Implanted. Endoscopy / methods. Mesencephalon / surgery. Neuroma, Acoustic / surgery

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  • (PMID = 20367538.001).
  • [ISSN] 1651-2251
  • [Journal-full-title] Acta oto-laryngologica
  • [ISO-abbreviation] Acta Otolaryngol.
  • [Language] eng
  • [Publication-type] Comparative Study; Journal Article
  • [Publication-country] England
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56. Gerganov VM, Hore N, Herold C, Wrede K, Stan AC, Samii A, Samii M: Bilateral malignant melanoma metastases to the internal auditory canal/cerebellopontine angle: surgical management and preservation of function. J Neurosurg; 2008 Apr;108(4):803-7
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  • [Title] Bilateral malignant melanoma metastases to the internal auditory canal/cerebellopontine angle: surgical management and preservation of function.
  • Although intracranial metastases of malignant melanomas are common, localization at the cerebellopontine angle (CPA) or in the internal auditory canal (IAC) is rare, and bilateral presentation especially so.
  • We present the case of a 46-year-old Caucasian woman with bilateral IAC/CPA lesions and a prior history of malignant melanoma on the right leg.
  • During preoperative investigations, the presence of the bilateral IAC/CPA lesions along with several radiologically identified lesions along the neural axis led to the suspicion that she had neurofibromatosis Type 2 despite her history of malignant melanoma and the lack of characteristic skin lesions and family history.
  • Histopathological analysis of the resected lesion confirmed the intraoperative diagnosis of bilateral CPA malignant melanoma metastases.
  • Surgical removal of the tumors via the retrosigmoid approach with preservation of normal bilateral facial nerve function and unilateral serviceable hearing, combined with control of the systemic disease, provided this patient with a near-normal quality of life for at least 42 months after the initial diagnosis of melanoma.

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  • (PMID = 18377262.001).
  • [ISSN] 0022-3085
  • [Journal-full-title] Journal of neurosurgery
  • [ISO-abbreviation] J. Neurosurg.
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article; Review
  • [Publication-country] United States
  • [Number-of-references] 17
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57. Hanemann CO, Evans DG: News on the genetics, epidemiology, medical care and translational research of Schwannomas. J Neurol; 2006 Dec;253(12):1533-41
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  • 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.
  • 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.
  • [MeSH-major] Disease Models, Animal. Genes, Neurofibromatosis 2. Neurilemmoma. Research
  • [MeSH-minor] Animals. Disease Progression. Humans. Mice. Mice, Knockout

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  • [Cites] Hum Mol Genet. 2002 Dec 1;11(25):3179-89 [12444102.001]
  • [Cites] Q J Med. 1992 Aug;84(304):603-18 [1484939.001]
  • [Cites] Genet Epidemiol. 2003 May;24(4):265-72 [12687643.001]
  • [Cites] Laryngoscope. 1999 May;109(5):736-40 [10334223.001]
  • [Cites] Br J Cancer. 2000 Feb;82(4):998 [10732777.001]
  • [Cites] Mol Cell. 2003 Oct;12 (4):841-9 [14580336.001]
  • [Cites] Hum Gene Ther. 2006 Jan;17(1):20-30 [16409122.001]
  • [Cites] Genes Dev. 2000 Jul 1;14(13):1617-30 [10887156.001]
  • [Cites] J Med Genet. 2003 Nov;40(11):802-6 [14627667.001]
  • [Cites] AJR Am J Roentgenol. 1995 Oct;165(4):951-5 [7676998.001]
  • [Cites] Nat Genet. 2000 Sep;26(1):89-92 [10973256.001]
  • [Cites] Arch Neurol. 2005 Apr;62(4):674-5 [15824272.001]
  • [Cites] J Med Genet. 2003 Feb;40(2):109-14 [12566519.001]
  • [Cites] Int J Radiat Oncol Biol Phys. 2005 Sep 1;63(1):75-81 [16111574.001]
  • [Cites] J Neurosurg. 2002 Feb;96(2):223-8 [11838794.001]
  • [Cites] Neurosurgery. 1998 Feb;42(2):279-89; discussion 289-90 [9482178.001]
  • [Cites] Zentralbl Allg Pathol. 1983;127(5-6):305-14 [6410615.001]
  • [Cites] Biochem Biophys Res Commun. 2003 Mar 7;302(2):238-45 [12604337.001]
  • [Cites] Neurobiol Dis. 2005 Jun-Jul;19(1-2):1-9 [15837555.001]
  • [Cites] Neoplasia. 2002 Nov-Dec;4(6):501-9 [12407444.001]
  • [Cites] Cancer Biol Ther. 2005 Apr;4(4):379-81 [15846074.001]
  • [Cites] J Neuropathol Exp Neurol. 1993 Mar;52(2):106-13 [8440992.001]
  • [Cites] J Med Genet. 1992 Dec;29(12 ):841-6 [1479598.001]
  • [Cites] Otol Neurotol. 2005 Jan;26(1):93-7 [15699726.001]
  • [Cites] Otol Neurotol. 2004 Sep;25(5):811-7 [15354016.001]
  • [Cites] Dev Cell. 2001 Jul;1(1):63-72 [11703924.001]
  • [Cites] Otol Neurotol. 2004 Mar;25(2):150-4 [15021775.001]
  • [Cites] Am J Hum Genet. 2002 Oct;71(4):715-23 [12235555.001]
  • [Cites] Neurosurgery. 1997 Feb;40(2):248-60; discussion 260-2 [9007856.001]
  • [Cites] Eur J Nucl Med. 2001 Oct;28(10 ):1541-51 [11685498.001]
  • [Cites] Am J Hum Genet. 1996 Aug;59(2):331-42 [8755919.001]
  • [Cites] Neurosurgery. 1997 Apr;40(4):684-94; discussion 694-5 [9092841.001]
  • [Cites] Acta Otolaryngol. 1997 Jul;117(4):482-9 [9288200.001]
  • [Cites] Am J Hum Genet. 1996 Sep;59(3):529-39 [8751853.001]
  • [Cites] Hum Mol Genet. 2003 Jun 1;12(11):1211-21 [12761036.001]
  • [Cites] J Med Genet. 2000 Dec;37(12):897-904 [11106352.001]
  • [Cites] Cancer J. 2004 Jan-Feb;10(1):20-6 [15000491.001]
  • [Cites] J Neurosurg. 1991 Feb;74(2):248-53 [1846409.001]
  • [Cites] J Neurosurg. 1989 Dec;71(6):810-4 [2585070.001]
  • [Cites] Neurobiol Dis. 1998 Jul;5(1):55-64 [9702788.001]
  • [Cites] Neurobiol Dis. 2000 Aug;7(4):483-91 [10964617.001]
  • [Cites] J Neurol Neurosurg Psychiatry. 2006 Feb;77(2):269-71 [16421138.001]
  • [Cites] Otol Neurotol. 2005 Jan;26(1):86-92 [15699725.001]
  • [Cites] Brain. 2002 May;125(Pt 5):996-1004 [11960890.001]
  • [Cites] Neurology. 2005 Jun 14;64(11):1838-45 [15955931.001]
  • [Cites] J Neurol Neurosurg Psychiatry. 1997 Apr;62(4):361-6 [9120449.001]
  • [Cites] J Neurol Neurosurg Psychiatry. 2003 Sep;74(9):1288-93 [12933938.001]
  • [Cites] Neurology. 2006 Mar 14;66(5):730-2 [16534111.001]
  • [Cites] J Neurosurg Spine. 2005 May;2(5):574-9 [15945431.001]
  • [Cites] Otol Neurotol. 2005 Jan;26(1):98-101 [15699727.001]
  • [Cites] Radiology. 2001 Feb;218(2):434-42 [11161159.001]
  • [Cites] Neurology. 2000 Jan 11;54(1):71-6 [10636128.001]
  • [Cites] Biochem Biophys Res Commun. 2005 Sep 23;335(2):385-92 [16083858.001]
  • [Cites] Acta Otolaryngol Suppl. 2000;542:18-21 [10897394.001]
  • [Cites] Genes Dev. 1998 Apr 15;12(8):1121-33 [9553042.001]
  • [Cites] Brain Pathol. 2003 Jul;13(3):352-63 [12946024.001]
  • [Cites] Nat Rev Drug Discov. 2003 Apr;2(4):296-313 [12669029.001]
  • [Cites] Br J Neurosurg. 2005 Feb;19(1):5-12 [16147576.001]
  • [Cites] Otolaryngol Clin North Am. 2002 Apr;35(2):393-404, viii [12391625.001]
  • [Cites] J Med Genet. 2003 Jun;40(6):459-63 [12807969.001]
  • [Cites] Hum Mol Genet. 2002 Jan 1;11(1):69-76 [11773000.001]
  • [Cites] Am J Hum Genet. 2004 Aug;75(2):231-9 [15190457.001]
  • [Cites] Curr Opin Pharmacol. 2005 Aug;5(4):350-6 [15955734.001]
  • (PMID = 17219030.001).
  • [ISSN] 0340-5354
  • [Journal-full-title] Journal of neurology
  • [ISO-abbreviation] J. Neurol.
  • [Language] eng
  • [Publication-type] Journal Article; Review
  • [Publication-country] Germany
  • [Number-of-references] 63
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58. Evans DG, Wallace A: An update on age related mosaic and offspring risk in neurofibromatosis 2 (NF2). J Med Genet; 2009 Nov;46(11):792
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  • [Title] An update on age related mosaic and offspring risk in neurofibromatosis 2 (NF2).
  • [MeSH-major] Mosaicism. Neurofibromatosis 2 / genetics
  • [MeSH-minor] Adult. DNA Mutational Analysis. Genetic Predisposition to Disease. Great Britain / epidemiology. Humans. Neuroma, Acoustic / epidemiology. Neuroma, Acoustic / genetics. Risk Assessment


59. Evans DG, Watson C, King A, Wallace AJ, Baser ME: Multiple meningiomas: differential involvement of the NF2 gene in children and adults. J Med Genet; 2005 Jan;42(1):45-8
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  • [Title] Multiple meningiomas: differential involvement of the NF2 gene in children and adults.
  • OBJECTIVE: To screen for NF2 mutations in people with meningiomas.
  • METHODS: Lymphocyte or tumour DNA was analysed from 46 individuals from 36 families who presented with a meningioma at age < or =15 years without vestibular schwannoma (VS), or who had multiple meningiomas in adulthood before the diagnosis of vs.
  • RESULTS: Eight of 13 people with meningioma and other features of neurofibromatosis 2 (NF2) had an identified constitutional NF2 mutation in blood DNA, but none of the other subjects had identified constitutional NF2 mutations.
  • CONCLUSIONS: Constitutional NF2 mutations are the most likely cause of meningioma in children and in people with a meningioma plus other non-VS features of NF2.
  • Mosaic NF2 may be the cause of about 8% of multiple meningiomas in sporadic adult cases, but there are other causes in the majority of other such patients and in multiple meningioma in families.
  • [MeSH-major] Genes, Neurofibromatosis 2. Meningioma / genetics. Mutation. Neuroma, Acoustic / genetics. Point Mutation
  • [MeSH-minor] Adolescent. Adult. Child. Humans. Loss of Heterozygosity. Mosaicism. Neurofibromatosis 2 / genetics. Polymerase Chain Reaction

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  • [Cites] J Pathol. 2001 Jul;194(3):367-72 [11439370.001]
  • [Cites] J Neurosurg. 2001 Jan;94(1):111-7 [11147878.001]
  • [Cites] J Neuropathol Exp Neurol. 2000 Oct;59(10):872-9 [11079777.001]
  • [Cites] Hum Mol Genet. 2000 Jun 12;9(10):1495-500 [10888600.001]
  • [Cites] J Neuropathol Exp Neurol. 2000 Jun;59(6):504-12 [10850863.001]
  • [Cites] J Neurosurg. 2000 May;92(5):766-70 [10794289.001]
  • [Cites] Neurology. 2000 Jan 11;54(1):71-6 [10636128.001]
  • [Cites] Arch Dis Child. 1999 Dec;81(6):496-9 [10569966.001]
  • [Cites] J Neuropathol Exp Neurol. 2001 Oct;60(10):994-1003 [11589430.001]
  • [Cites] Genet Test. 1999;3(2):173-83 [10464665.001]
  • [Cites] Neurosurgery. 1999 Aug;45(2):409-16 [10449091.001]
  • [Cites] Oncogene. 1999 Apr 1;18(13):2231-9 [10327069.001]
  • [Cites] Am J Hum Genet. 1998 Sep;63(3):727-36 [9718334.001]
  • [Cites] Cancer Res. 1998 Aug 1;58(15):3226-30 [9699646.001]
  • [Cites] J Neurosurg. 1998 Mar;88(3):562-9 [9488313.001]
  • [Cites] J Neurooncol. 1996 Sep;29(3):197-205 [8858525.001]
  • [Cites] J Neurosurg. 1996 May;84(5):847-51 [8622160.001]
  • [Cites] Neurology. 1993 Oct;43(10):2096-8 [8413972.001]
  • [Cites] Q J Med. 1992 Aug;84(304):603-18 [1484939.001]
  • [Cites] Hum Pathol. 2002 Mar;33(3):375-8 [11979381.001]
  • [Cites] J Neurosurg. 2002 Nov;97(5):1078-82 [12450029.001]
  • [Cites] Int J Cancer. 2003 Feb 10;103(4):483-8 [12478663.001]
  • [Cites] J Med Genet. 2003 Jun;40(6):459-63 [12807969.001]
  • [Cites] J Med Genet. 1992 Dec;29(12):841-6 [1479598.001]
  • (PMID = 15635074.001).
  • [ISSN] 1468-6244
  • [Journal-full-title] Journal of medical genetics
  • [ISO-abbreviation] J. Med. Genet.
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] England
  • [Other-IDs] NLM/ PMC1735900
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60. Colletti V, Carner M, Miorelli V, Guida M, Colletti L, Fiorino F: Auditory brainstem implant (ABI): new frontiers in adults and children. Otolaryngol Head Neck Surg; 2005 Jul;133(1):126-38
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  • Previous studies have considered only patients with neurofibromatosis type 2 (NF2) older than 12 years as candidates for an auditory brainstem implant (ABI).
  • Thirteen subjects had tumors, 10 NF2 and 3 solitary vestibular schwannoma, and 16 patients had a variety of nontumor (NT) cochlear or cochlear nerve diseases.
  • The electrode array was inserted into the lateral recess of the fourth ventricle and correct electrode positioning was monitored with the aid of electrically evoked auditory brainstem responses (EABRs).
  • The auditory performance of the patients showed significantly better outcomes than controls (Multicentric European clinical investigations on ABI with NF2).
  • [MeSH-minor] Adolescent. Adult. Aged. Auditory Brain Stem Implants. Child. Child, Preschool. Cochlear Diseases / complications. Cochlear Diseases / surgery. Evoked Potentials, Auditory, Brain Stem / physiology. Female. Hearing Tests. Humans. Infant. Male. Middle Aged. Neuroma, Acoustic / complications. Neuroma, Acoustic / surgery. Retrospective Studies. Treatment Outcome. Vestibulocochlear Nerve Diseases / complications. Vestibulocochlear Nerve Diseases / surgery

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  • (PMID = 16025066.001).
  • [ISSN] 0194-5998
  • [Journal-full-title] Otolaryngology--head and neck surgery : official journal of American Academy of Otolaryngology-Head and Neck Surgery
  • [ISO-abbreviation] Otolaryngol Head Neck Surg
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] United States
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61. Neff BA, Welling DB: Current concepts in the evaluation and treatment of neurofibromatosis type II. Otolaryngol Clin North Am; 2005 Aug;38(4):671-84, ix
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  • [Title] Current concepts in the evaluation and treatment of neurofibromatosis type II.
  • This article presents the current diagnostic and treatment options for the hereditary disease neurofibromatosis type II, reviews clinical presentation and diagnosis, highlights indications for and methods of clinical and genetic screening, discusses treatment approaches for surgery and stereotactic radiation, and summarizes potential future therapeutic avenues.
  • [MeSH-major] Neurofibromatosis 2 / diagnosis. Neurofibromatosis 2 / therapy

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  • (PMID = 16005725.001).
  • [ISSN] 0030-6665
  • [Journal-full-title] Otolaryngologic clinics of North America
  • [ISO-abbreviation] Otolaryngol. Clin. North Am.
  • [Language] eng
  • [Publication-type] Journal Article; Review
  • [Publication-country] United States
  • [Number-of-references] 61
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62. Kim Y, Tanaka K, Lee YW, Chung J: Development and application of kinetic model on biological anoxic/aerobic filter. Chemosphere; 2008 Jan;70(6):990-1001
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  • An up-flow biological anoxic filter (BANF) has been developed to achieve high removal performance of suspended solids and BOD removal as well as nitrogen.
  • The model obtained in this study was verified and simulated using experimental results taken from a pilot-scale plant and predicted the experimental data well, applying to design and operate BANF.

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  • (PMID = 17910975.001).
  • [ISSN] 0045-6535
  • [Journal-full-title] Chemosphere
  • [ISO-abbreviation] Chemosphere
  • [Language] eng
  • [Publication-type] Journal Article; Research Support, Non-U.S. Gov't
  • [Publication-country] England
  • [Chemical-registry-number] 0 / Sewage
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63. Wentworth S, Pinn M, Bourland JD, Deguzman AF, Ekstrand K, Ellis TL, Glazier SS, McMullen KP, Munley M, Stieber VW, Tatter SB, Shaw EG: Clinical experience with radiation therapy in the management of neurofibromatosis-associated central nervous system tumors. Int J Radiat Oncol Biol Phys; 2009 Jan 1;73(1):208-13
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Clinical experience with radiation therapy in the management of neurofibromatosis-associated central nervous system tumors.
  • PURPOSE: Patients with neurofibromatosis (NF) develop tumors of the central nervous system (CNS).
  • METHODS AND MATERIALS: Eighteen patients with NF with CNS tumors were treated from 1986 to 2007.
  • Tumor types included acoustic neuroma (16%), ependymoma (6%), low-grade glioma (11%), meningioma (60%), and schwanomma/neurofibroma (7%).
  • Five-year PFS rates were 75% (acoustic neuroma), 100% (ependymoma), 75% (low-grade glioma), 86% (meningioma), and 100% (schwanomma/neurofibroma).
  • Thirteen acoustic neuromas had a local control rate of 94% with a 50% hearing preservation rate.
  • CONCLUSIONS: RT provided local control, OS, and PFS rates similar to or better than published data for tumors in non-NF patients.
  • Radiation therapy should be considered in NF patients with imaging progression of CNS tumors.
  • [MeSH-major] Brain Neoplasms / mortality. Brain Neoplasms / radiotherapy. Neurofibromatoses / mortality. Neurofibromatoses / radiotherapy


64. Ryan AM, Hurley M, Brennan P, Moroney JT: Vascular dysplasia in neurofibromatosis type 2. Neurology; 2005 Jul 12;65(1):163-4
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  • [Title] Vascular dysplasia in neurofibromatosis type 2.
  • [MeSH-major] Cerebral Cortex / pathology. Cerebral Infarction / etiology. Infarction, Middle Cerebral Artery / etiology. Middle Cerebral Artery / pathology. Middle Cerebral Artery / physiopathology. Neurofibromatosis 2 / complications

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  • (PMID = 16009910.001).
  • [ISSN] 1526-632X
  • [Journal-full-title] Neurology
  • [ISO-abbreviation] Neurology
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / Anticoagulants; 0 / Hydroxymethylglutaryl-CoA Reductase Inhibitors; 0 / Neurofibromin 2
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65. Vincenti V, Pasanisi E, Guida M, Di Trapani G, Sanna M: Hearing rehabilitation in neurofibromatosis type 2 patients: cochlear versus auditory brainstem implantation. Audiol Neurootol; 2008;13(4):273-80
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Hearing rehabilitation in neurofibromatosis type 2 patients: cochlear versus auditory brainstem implantation.
  • OBJECTIVE: We aimed to evaluate and compare the auditory performance of neurofibromatosis type 2 (NF2) patients with bilateral total deafness fitted with cochlear or auditory brainstem implants.
  • Nine patients suffering from NF2 who underwent hearing rehabilitation by means of cochlear (4 patients) or auditory brainstem (5 patients) implantation participated in the study.
  • CONCLUSIONS: Our study confirmed literature data reporting that cochlear implantation may offer open-set speech communication in NF2 patients.
  • [MeSH-major] Auditory Brain Stem Implants. Cochlear Implantation / methods. Deafness / rehabilitation. Neurofibromatosis 2 / rehabilitation. Neuroma, Acoustic / rehabilitation. Speech Reception Threshold Test


66. Kalamarides M, Hunter-Schaedle K, Blakeley J, Allen J, Babovic-Vuskanovic D, Belzberg A, Bollag G, Chen R, DiTomaso E, Golfinos J, Harris G, Jacob A, Kalpana G, Karajannis M, Korf B, Kurzrock R, Law M, McClatchey A, Packer R, Roehm P, Rubenstein A, Slattery W 3rd, Tonsgard JH, Welling DB, Widemann B, Yohay K: Consensus recommendations to accelerate clinical trials for neurofibromatosis type 2. Clin Cancer Res; 2009 Aug 15;15(16):5032-5039
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Consensus recommendations to accelerate clinical trials for neurofibromatosis type 2.
  • PURPOSE: Neurofibromatosis type 2 (NF2) is a rare autosomal dominant disorder associated primarily with bilateral schwannomas seen on the superior vestibular branches of the eighth cranial nerves.
  • Meningiomas, ependymomas, and other benign central nervous system tumors are also common in NF2.
  • The lack of effective treatments for NF2 marks an unmet medical need.
  • Gareth Evans and Marco Giovannini, of 36 international researchers, physicians, representatives of the biotechnology industry, and patient advocates on how to accelerate progress toward NF2 clinical trials.
  • RESULTS: Workshop participants reached a consensus that, based on current knowledge, the time is right to plan and implement NF2 clinical trials.
  • Obstacles impeding NF2 clinical trials and how to address them were discussed, as well as the candidate therapeutic pipeline for NF2.
  • CONCLUSIONS: Both phase 0 and phase II NF2 trials are near-term options for NF2 clinical trials.
  • The number of NF2 patients in the population remains limited, and successful recruitment will require ongoing collaboration efforts between NF2 clinics.
  • [MeSH-major] Clinical Trials as Topic / methods. Consensus. Health Planning Guidelines. Neurofibromatosis 2 / therapy

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  • [Cites] Int J Oncol. 2002 Mar;20(3):475-82 [11836557.001]
  • [Cites] Curr Biol. 2006 Apr 4;16(7):702-9 [16581517.001]
  • [Cites] J Med Genet. 2007 Jul;44(7):424-8 [17307835.001]
  • [Cites] Hum Gene Ther. 2006 Jan;17(1):20-30 [16409122.001]
  • [Cites] Genes Dev. 2000 Jul 1;14(13):1617-30 [10887156.001]
  • [Cites] J Med Genet. 2008 Jun;45(6):332-9 [18285426.001]
  • [Cites] J Neurosurg. 2000 May;92(5):766-70 [10794289.001]
  • [Cites] Brain Pathol. 2008 Jan;18(1):62-70 [17924978.001]
  • [Cites] Laryngoscope. 2007 Jun;117(6):1069-72 [17545869.001]
  • [Cites] Nat Cell Biol. 2006 Jan;8(1):27-36 [16341207.001]
  • [Cites] Genes Dev. 2005 Oct 1;19(19):2265-77 [16204178.001]
  • [Cites] Neoplasia. 2002 Nov-Dec;4(6):501-9 [12407444.001]
  • [Cites] Oncogene. 2009 Feb 12;28(6):854-65 [19029950.001]
  • [Cites] J Med Genet. 1992 Dec;29(12 ):841-6 [1479598.001]
  • [Cites] Genes Dev. 1999 Apr 15;13(8):978-86 [10215625.001]
  • [Cites] Genes Dev. 2002 May 1;16(9):1060-5 [12000789.001]
  • [Cites] Otol Neurotol. 2005 Jul;26(4):733-40 [16015177.001]
  • [Cites] Otol Neurotol. 2008 Jan;29(1):58-68 [18199958.001]
  • [Cites] J Neuropathol Exp Neurol. 2001 Oct;60(10):994-1003 [11589430.001]
  • [Cites] Otol Neurotol. 2005 Jan;26(1):93-7 [15699726.001]
  • [Cites] J Neurosurg. 2002 Jun;96(6):1063-71 [12066908.001]
  • [Cites] Am J Hum Genet. 2002 Oct;71(4):715-23 [12235555.001]
  • [Cites] Neurology. 2002 Dec 10;59(11):1759-65 [12473765.001]
  • [Cites] Am J Otol. 1998 Sep;19(5):638-43 [9752973.001]
  • [Cites] J Neurooncol. 1996 Sep;29(3):197-205 [8858525.001]
  • [Cites] Neurosurgery. 2008 Jun;62(6):1314-9; discussion 1319-20 [18824998.001]
  • [Cites] Neurology. 2007 Feb 27;68(9):643-7 [17215493.001]
  • [Cites] Br J Cancer. 2007 Sep 3;97(5):577-81 [17726450.001]
  • [Cites] Stat Med. 1999 Aug 15;18(15):1905-42 [10532877.001]
  • [Cites] Am J Hum Genet. 2007 Apr;80(4):805-10 [17357086.001]
  • [Cites] Neurology. 2000 Jan 11;54(1):71-6 [10636128.001]
  • [Cites] Br J Neurosurg. 2005 Feb;19(1):5-12 [16147576.001]
  • [Cites] J Cell Biol. 2007 Jun 4;177(5):893-903 [17548515.001]
  • [Cites] Lancet Neurol. 2006 Dec;5(12):1045-54 [17110285.001]
  • (PMID = 19671848.001).
  • [ISSN] 1078-0432
  • [Journal-full-title] Clinical cancer research : an official journal of the American Association for Cancer Research
  • [ISO-abbreviation] Clin. Cancer Res.
  • [Language] eng
  • [Grant] United States / NIDCD NIH HHS / DC / K08 DC009288
  • [Publication-type] Consensus Development Conference; Journal Article; Research Support, Non-U.S. Gov't
  • [Publication-country] United States
  • [Number-of-references] 36
  • [Other-IDs] NLM/ NIHMS707923; NLM/ PMC4513640
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67. Balasubramaniam A, Shannon P, Hodaie M, Laperriere N, Michaels H, Guha A: Glioblastoma multiforme after stereotactic radiotherapy for acoustic neuroma: case report and review of the literature. Neuro Oncol; 2007 Oct;9(4):447-53
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  • [Title] Glioblastoma multiforme after stereotactic radiotherapy for acoustic neuroma: case report and review of the literature.
  • Although the short-term risks are minimal, the long-term risks of radiation-induced de novo secondary neoplasms or malignant progression of the primary benign tumor need to be considered.
  • There are currently 19 reported cases of tumors linked with stereotactic radiotherapy/radiosurgery, to which we add our second institutional experience of a patient who succumbed to a glioblastoma multiforme (GBM) after stereotactic radiotherapy for an acoustic neuroma (AN).
  • Review of these 20 cases revealed 10 de novo secondary tumors, of which eight were malignant, with six being malignant gliomas.
  • The majority of the cases (14 of 20) involved AN, with most being in patients with neurofibromatosis-2 (NF2; 8 of 14), reflecting the large numbers and long-term use of radiotherapy for AN.
  • Accelerated growth of the primary benign AN, some 2 to 6 years after focused radiotherapy, was found in six of eight NF2 patients, with pathological verification of a malignant nerve sheath tumor documented in most.
  • [MeSH-major] Brain Neoplasms / etiology. Glioblastoma / etiology. Neoplasms, Radiation-Induced / etiology. Neoplasms, Second Primary / etiology. Neuroma, Acoustic / surgery. Radiosurgery / adverse effects


68. Baser ME, Contributors to the International NF2 Mutation Database: The distribution of constitutional and somatic mutations in the neurofibromatosis 2 gene. Hum Mutat; 2006 Apr;27(4):297-306
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  • [Title] The distribution of constitutional and somatic mutations in the neurofibromatosis 2 gene.
  • Constitutional heterozygous inactivating mutations in the neurofibromatosis 2 (NF2) tumor suppressor gene cause the autosomal dominant disease NF2, and biallelic inactivating somatic NF2 mutations are found in a high proportion of unilateral sporadic vestibular schwannoma (USVS) and sporadic meningioma.
  • We surveyed the distributions of constitutional NF2 mutations in 823 NF2 families, 278 somatic NF2 mutations in USVS, and 208 somatic NF2 mutations in sporadic meningioma.
  • Based on the available NF2 mutation data, the most dominant influence on the spectra of mutations in exons 1-15 are C>T transitions that change arginine codons (CGA) to stop codons (TGA) due to spontaneous deamination of methylcytosine to thymine in CpG dinucleotides.
  • The paucity of reported mutations in exon 9 and the absence of reported mutations in exons 16 and 17 may be related to structure-function relationships in the NF2 protein.
  • [MeSH-major] Codon, Nonsense / genetics. DNA Mutational Analysis. Neurofibromatosis 2 / genetics


69. Pérez-Grau M, Miró N, Prades J, Vergés J, Lareo S, Roca-Ribas F: [Neurofibromatosis type 2]. Acta Otorrinolaringol Esp; 2010 Jul-Aug;61(4):306-11
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  • [Title] [Neurofibromatosis type 2].
  • [Transliterated title] Neurofibromatosis tipo 2.
  • Type 2 neurofibromatosis (NF2) is an invalidating, inherited, dominant, autosomal disease.
  • It is commonly confused with type 1 neurofibromatosis, although the two disorders are different.
  • All subjects who inherit a mutated NF2 gene will develop the disease, which is characterised by the growth of schwannomas, generally affecting the vestibular nerve bilaterally, as well as meningiomas and other benign central nervous system tumours, before their third decade of life.
  • It is currently possible to identify the NF2 mutation in most affected families.
  • Up to about 20% of NF2 patients with no family history, apparently sporadic cases, are actually individuals with mosaicism for this mutation.
  • Small vestibular schwannomas can often be completely resected with preservation of both hearing and facial function.
  • In case of large tumours it is possible to place a cochlear or brain stem implant during the schwannoma surgery.
  • Age at diagnosis, the presence of intracranial meningiomas, and whether the patient was treated at a specialty centre or not, have been cited as the strongest prognostic factors.
  • [MeSH-major] Neurofibromatosis 2

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  • [Copyright] Copyright 2009 Elsevier España, S.L. All rights reserved.
  • (PMID = 20138250.001).
  • [ISSN] 1988-3013
  • [Journal-full-title] Acta otorrinolaringológica española
  • [ISO-abbreviation] Acta Otorrinolaringol Esp
  • [Language] spa
  • [Publication-type] English Abstract; Journal Article; Review
  • [Publication-country] Spain
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70. Tatagiba M, Gharabaghi A: Electrically evoked hearing perception by functional neurostimulation of the central auditory system. Acta Neurochir Suppl; 2005;93:93-5
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  • [Title] Electrically evoked hearing perception by functional neurostimulation of the central auditory system.
  • Perceptional benefits and potential risks of electrical stimulation of the central auditory system are constantly changing due to ongoing developments and technical modifications.
  • Patients with bilateral tumours as a result of neurofibromatosis type 2 with complete dysfunction of the eighth cranial nerves are the most frequent candidates for auditory brainstem implants.
  • Patient selection is based on disease course, clinical signs, audiological, radiological and psycho-social criteria.
  • Functional neurostimulation of the central auditory system by a brainstem implant is a safe and beneficial procedure, which may considerably improve the quality of life in patients suffering from deafness due to bilateral retrocochlear lesions.

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  • (PMID = 15986735.001).
  • [ISSN] 0065-1419
  • [Journal-full-title] Acta neurochirurgica. Supplement
  • [ISO-abbreviation] Acta Neurochir. Suppl.
  • [Language] eng
  • [Publication-type] Journal Article; Review
  • [Publication-country] Austria
  • [Number-of-references] 17
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71. Sriganesh K, Ramesh VJ, Veena S, Chandramouli BA: Dexmedetomidine for awake fibreoptic intubation and awake self-positioning in a patient with a critically located cervical lesion for surgical removal of infra-tentorial tumour. Anaesthesia; 2010 Sep;65(9):949-51
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  • We describe how the use of dexmedetomidine for sedation during awake fibreoptic intubation also facilitated self-positioning before surgery in a patient with a cervical cord compressive lesion and raised intracranial pressure undergoing excision of a cerebellopontine angle lesion in the lateral position, without any adverse neurological outcome.
  • [MeSH-major] Dexmedetomidine. Hypnotics and Sedatives. Intubation, Intratracheal / methods. Neurofibromatosis 2 / surgery. Neuroma, Acoustic / surgery

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  • [Copyright] © 2010 The Authors. Journal compilation © 2010 The Association of Anaesthetists of Great Britain and Ireland.
  • (PMID = 20569247.001).
  • [ISSN] 1365-2044
  • [Journal-full-title] Anaesthesia
  • [ISO-abbreviation] Anaesthesia
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] England
  • [Chemical-registry-number] 0 / Hypnotics and Sedatives; 67VB76HONO / Dexmedetomidine
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72. Mirone G, Natale M, Scuotto A, Rotondo M: Solitary olfactory groove schwannoma. J Clin Neurosci; 2009 Mar;16(3):454-6
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  • [Title] Solitary olfactory groove schwannoma.
  • Intracranial schwannomas that do not involve major cranial nerves in the posterior fossa are uncommon, especially if they are not associated with neurofibromatosis type II (NF-2).
  • We report a cystic schwannoma arising from the olfactory groove in a 38-year-old Caucasian male who presented with headache, vomiting and visual impairment.

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  • (PMID = 19147362.001).
  • [ISSN] 0967-5868
  • [Journal-full-title] Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia
  • [ISO-abbreviation] J Clin Neurosci
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] Scotland
  • [Chemical-registry-number] 0 / Antigens, CD57; 0 / S100 Proteins
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73. Seong MW, Yeo IK, Cho SI, Park CK, Kim SK, Paek SH, Kim DG, Jung HW, Park H, Kim SY, Kim JY, Park SS: Molecular characterization of the NF2 gene in Korean patients with neurofibromatosis type 2: a report of four novel mutations. Korean J Lab Med; 2010 Apr;30(2):190-4
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  • [Title] Molecular characterization of the NF2 gene in Korean patients with neurofibromatosis type 2: a report of four novel mutations.
  • BACKGROUND: Neurofibromatosis type 2 (NF2) is an autosomal dominant syndrome caused by the NF2 tumor suppressor gene.
  • However, the NF2 mutation characteristics in Korean patients are not sufficiently understood.
  • In this study, we conducted a comprehensive mutational analysis in 7 Korean NF2 patients by performing direct sequencing and gene-dosage assessment.
  • METHODS: We analyzed all exons and flanking regions of NF2 by direct sequencing and screened the deletions or duplications involving NF2 by multiplex ligation-dependent probe amplification.
  • RESULTS: Four novel NF2 mutations, including 2 splice-site mutations (c.364-1G>A and c.886-3C>G), 1 frameshift mutation (c.524delA), and 1 missense mutation (c.397T>C; p.Cys133Arg), were identified in our patients.
  • CONCLUSIONS: The detection rate of NF2 mutations in Korean patients (57%) is similar to those in other populations.
  • Our results provided a greater insight into the mutational spectrum of the NF2 gene in Korean subjects.
  • [MeSH-major] Asian Continental Ancestry Group / genetics. Genes, Neurofibromatosis 2. Mutation. Neurofibromatosis 2 / genetics

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  • (PMID = 20445339.001).
  • [ISSN] 1598-6535
  • [Journal-full-title] The Korean journal of laboratory medicine
  • [ISO-abbreviation] Korean J Lab Med
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] Korea (South)
  • [Chemical-registry-number] 0 / RNA Splice Sites
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74. Ahmad Z, Brown CM, Patel AK, Ryan AF, Ongkeko R, Doherty JK: Merlin knockdown in human Schwann cells: clues to vestibular schwannoma tumorigenesis. Otol Neurotol; 2010 Apr;31(3):460-6
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  • [Title] Merlin knockdown in human Schwann cells: clues to vestibular schwannoma tumorigenesis.
  • HYPOTHESIS: To investigate the early events in molecular progression toward schwannoma tumorigenesis, we developed an in vitro model of human Schwann cell tumorigenesis by merlin knockdown.
  • BACKGROUND: Neurofibromatosis 2 (NF2)-related and sporadic vestibular schwannoma (VS) exhibit loss of functional merlin (schwannomin).
  • CONCLUSION: Merlin depletion results in deregulation of ErbB receptor signaling, promotes a dedifferentiated state, and increases Schwann cell proliferation, suggesting critical steps toward schwannoma tumorigenesis.

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  • [Cites] Otol Neurotol. 2008 Jan;29(1):58-68 [18199958.001]
  • [Cites] Otol Neurotol. 2008 Jan;29(1):50-7 [18199957.001]
  • [Cites] Laryngoscope. 2008 Jun;118(6):1023-30 [18520822.001]
  • [Cites] Otol Neurotol. 2008 Sep;29(6):846-53 [18636037.001]
  • [Cites] Oncogene. 2009 Feb 12;28(6):854-65 [19029950.001]
  • [Cites] BMC Cancer. 2009;9:54 [19216795.001]
  • [Cites] Genes Dev. 2001 Apr 15;15(8):968-80 [11316791.001]
  • [Cites] Nat Genet. 2002 Aug;31(4):354-62 [12118253.001]
  • [Cites] Otol Neurotol. 2004 Mar;25(2):155-9 [15021776.001]
  • [Cites] Oncogene. 2004 Sep 20;23(43):7267-73 [15378086.001]
  • [Cites] Nature. 1986 Aug 14-20;322(6080):644-7 [3092103.001]
  • [Cites] Nature. 1993 Jun 10;363(6429):515-21 [8379998.001]
  • [Cites] Hum Mol Genet. 1994 Jan;3(1):147-51 [8162016.001]
  • [Cites] Genes Dev. 2005 Oct 1;19(19):2265-77 [16204178.001]
  • [Cites] Glia. 2006 Apr 15;53(6):593-600 [16432850.001]
  • [Cites] Curr Opin Otolaryngol Head Neck Surg. 2006 Oct;14(5):305-13 [16974142.001]
  • [Cites] Oncogene. 2007 Feb 8;26(6):836-50 [16953231.001]
  • [Cites] J Cell Biol. 2007 Jun 4;177(5):893-903 [17548515.001]
  • [Cites] Mol Cell Biol. 2008 Feb;28(4):1274-84 [18086884.001]
  • (PMID = 20195187.001).
  • [ISSN] 1537-4505
  • [Journal-full-title] Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology
  • [ISO-abbreviation] Otol. Neurotol.
  • [Language] ENG
  • [Grant] United States / BLRD VA / BX / I01 BX001205; United States / NIDCD NIH HHS / DC / 5 K08 DC008523-01A1; United States / NIDCD NIH HHS / DC / K08 DC008523; United States / NIDCD NIH HHS / DC / K08 DC008523-03; United States / NIDCD NIH HHS / DC / T32 DC000028; United States / NIDCD NIH HHS / DC / DC008523-03
  • [Publication-type] Journal Article; Research Support, N.I.H., Extramural
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / Antigens, CD44; 0 / Intermediate Filament Proteins; 0 / NES protein, human; 0 / Nerve Tissue Proteins; 0 / Nestin; 0 / Neurofibromin 2; 0 / RNA, Small Interfering; EC 2.7.10.1 / EGFR protein, human; EC 2.7.10.1 / Receptor, Epidermal Growth Factor
  • [Other-IDs] NLM/ NIHMS198738; NLM/ PMC2873969
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75. Hasegawa T, Fujitani S, Katsumata S, Kida Y, Yoshimoto M, Koike J: Stereotactic radiosurgery for vestibular schwannomas: analysis of 317 patients followed more than 5 years. Neurosurgery; 2005 Aug;57(2):257-65; discussion 257-65
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  • [Title] Stereotactic radiosurgery for vestibular schwannomas: analysis of 317 patients followed more than 5 years.
  • OBJECTIVE: Many investigators have reported successful treatment of vestibular schwannomas with gamma knife radiosurgery (GKRS).
  • However, long-term outcomes should be evaluated before concluding that GKRS is truly safe and effective for the treatment of vestibular schwannomas.
  • METHODS: Between May 1991 and December 1998, 346 consecutive patients (excluding those presenting with neurofibromatosis Type 2) were treated with GKRS.
  • [MeSH-major] Cranial Nerve Neoplasms / surgery. Neuroma, Acoustic / surgery. Radiosurgery / methods. Treatment Outcome

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  • (PMID = 16094154.001).
  • [ISSN] 1524-4040
  • [Journal-full-title] Neurosurgery
  • [ISO-abbreviation] Neurosurgery
  • [Language] eng
  • [Publication-type] Clinical Trial; Comparative Study; Journal Article
  • [Publication-country] United States
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76. Dereure O: [Molecular characterisation of SMARCB1 and NF2 in familial and sporadic schwannomatosis: an evolving paradigm]. Ann Dermatol Venereol; 2009 Mar;136(3):296-7
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  • [Title] [Molecular characterisation of SMARCB1 and NF2 in familial and sporadic schwannomatosis: an evolving paradigm].
  • [Transliterated title] Caractérisation moléculaire de SMARCB1 et NF2 dans la schwannomatose familiale et sporadique: un paradigme qui évolue.

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  • (PMID = 19328320.001).
  • [ISSN] 0151-9638
  • [Journal-full-title] Annales de dermatologie et de vénéréologie
  • [ISO-abbreviation] Ann Dermatol Venereol
  • [Language] fre
  • [Publication-type] Journal Article
  • [Publication-country] France
  • [Chemical-registry-number] 0 / Chromosomal Proteins, Non-Histone; 0 / DNA-Binding Proteins; 0 / Neurofibromin 2; 0 / SMARCB1 protein, human; 0 / Transcription Factors
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77. Patel AK, Alexander TH, Andalibi A, Ryan AF, Doherty JK: Vestibular schwannoma quantitative polymerase chain reaction expression of estrogen and progesterone receptors. Laryngoscope; 2008 Aug;118(8):1458-63
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  • [Title] Vestibular schwannoma quantitative polymerase chain reaction expression of estrogen and progesterone receptors.
  • OBJECTIVES/HYPOTHESIS: Determine the role of estrogen receptor (ER) and progesterone receptor (PR) expression in sporadic and neurofibromatosis 2 (NF2)-related vestibular schwannomas (VS).
  • VS carry mutations of the NF2 gene encoding the tumor suppressor, merlin, which interacts with ErbB2 in Schwann cells, implicating ErbB receptors in VS tumorigenesis.
  • STUDY DESIGN: Quantitative real-time polymerase chain reaction (qRT-PCR) for ER and PR messenger RNA was performed using greater auricular and vestibular nerve controls (n = 8), sporadic VS (n = 23), and NF2-related VS (n = 16) tissues.
  • RESULTS: Reverse transcription of messenger RNA from control and tumor specimens followed by RT Q-PCR demonstrated differences in ER and PR gene expression between sporadic and NF2-related vs.
  • [MeSH-major] Ear Neoplasms / metabolism. Neuroma, Acoustic / metabolism. Receptors, Estrogen / metabolism. Receptors, Progesterone / metabolism. Vestibule, Labyrinth / metabolism
  • [MeSH-minor] Adult. Female. Humans. Male. Middle Aged. Neurofibromatosis 2 / complications. Polymerase Chain Reaction. Up-Regulation. Vestibular Nerve / metabolism

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  • [Cites] Laryngoscope. 2000 Apr;110(4):497-508 [10763994.001]
  • [Cites] J Laryngol Otol. 2008 Feb;122(2):125-7 [17666143.001]
  • [Cites] Acta Neurochir (Wien). 2001;143(6):587-91 [11534675.001]
  • [Cites] Brain Res Brain Res Rev. 2001 Nov;37(1-3):343-59 [11744099.001]
  • [Cites] Otol Neurotol. 2004 Mar;25(2):155-9 [15021776.001]
  • [Cites] Am J Obstet Gynecol. 1974 Jun 15;119(4):516-20 [4842596.001]
  • [Cites] Obstet Gynecol. 1976 Jan;47(1):25S-29S [813163.001]
  • [Cites] J Neurosurg. 1980 Jan;52(1):28-35 [7350277.001]
  • [Cites] Surg Neurol. 1981 Feb;15(2):105-9 [7245001.001]
  • [Cites] Neurosurgery. 1981 Dec;9(6):665-71 [7198726.001]
  • [Cites] Surg Neurol. 1983 Jan;19(1):11-3 [6828987.001]
  • [Cites] Clin Neuropharmacol. 1984;7(4):338-42 [6509443.001]
  • [Cites] Clin Neuropharmacol. 1984;7(4):357-62 [6509447.001]
  • [Cites] Surg Neurol. 1986 Aug;26(2):142-8 [3726740.001]
  • [Cites] Eur J Surg Oncol. 1987 Aug;13(4):303-7 [3622783.001]
  • [Cites] Neurosurgery. 1988 Aug;23(2):185-8 [3185877.001]
  • [Cites] Arch Otolaryngol Head Neck Surg. 1990 Feb;116(2):202-4 [2297415.001]
  • [Cites] Surg Neurol. 1989 Dec;32(6):427-33 [2700052.001]
  • [Cites] J Laryngol Otol. 1990 Nov;104(11):865-7 [1702456.001]
  • [Cites] Otolaryngol Clin North Am. 1992 Jun;25(3):499-520 [1625863.001]
  • [Cites] Eur Arch Otorhinolaryngol. 1995;252(2):123-4 [7598873.001]
  • [Cites] Laryngoscope. 1995 Jul;105(7 Pt 1):693-700 [7603272.001]
  • [Cites] Clin Otolaryngol Allied Sci. 1995 Oct;20(5):413-7 [8582072.001]
  • [Cites] Laryngoscope. 1996 Jun;106(6):694-9 [8656953.001]
  • [Cites] Acta Neurochir (Wien). 1996;138(11):1275-81 [8980729.001]
  • [Cites] J Steroid Biochem Mol Biol. 1998 Apr;65(1-6):243-51 [9699879.001]
  • [Cites] Otol Neurotol. 2005 Jan;26(1):93-7 [15699726.001]
  • [Cites] Curr Opin Otolaryngol Head Neck Surg. 2007 Oct;15(5):341-6 [17823551.001]
  • [Cites] Otol Neurotol. 2008 Jan;29(1):50-7 [18199957.001]
  • [Cites] Acta Obstet Gynecol Scand. 2001 Feb;80(2):179-84 [11167216.001]
  • (PMID = 18670322.001).
  • [ISSN] 1531-4995
  • [Journal-full-title] The Laryngoscope
  • [ISO-abbreviation] Laryngoscope
  • [Language] eng
  • [Grant] United States / BLRD VA / BX / I01 BX001205; United States / NIDCD NIH HHS / DC / T32 DC000028
  • [Publication-type] Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / Receptors, Estrogen; 0 / Receptors, Progesterone
  • [Other-IDs] NLM/ NIHMS438693; NLM/ PMC3570025
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78. Samii A, Lenarz M, Majdani O, Lim HH, Samii M, Lenarz T: Auditory midbrain implant: a combined approach for vestibular schwannoma surgery and device implantation. Otol Neurotol; 2007 Jan;28(1):31-8
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Auditory midbrain implant: a combined approach for vestibular schwannoma surgery and device implantation.
  • HYPOTHESIS: The lateral suboccipital approach is a well-established route for safe removal of vestibular schwannomas in neurofibromatosis Type 2 (NF2) patients.
  • The goal of this study was to assess if this approach can be extended to a lateral supracerebellar infratentorial approach to enable insertion of an auditory midbrain implant (AMI) penetrating array along the tonotopic gradient of the inferior colliculus central nucleus (ICC).
  • The initial candidates are NF2 patients who, because of the growth and/or surgical removal of bilateral acoustic neuromas, develop neural deafness and are unable to benefit from cochlear implants.
  • The ideal surgical approach in NF2 patients must first enable safe removal of vestibular schwannomas and then provide sufficient exposure of the midbrain for AMI implantation.
  • RESULTS: The lateral suboccipital craniotomy enabled sufficient exposure of the cerebellopontine angle and internal auditory canal for tumor removal.
  • It could then be extended to a lateral supracerebellar infratentorial approach that provided good exposure of the dorsolateral aspect of the tentorial hiatus and mesencephalon for implantation of the AMI along the tonotopic gradient of the ICC.
  • CONCLUSION: This modified lateral suboccipital approach ensures safe removal of large vestibular schwannomas and provides sufficient exposure of the inferior colliculus for ideal AMI implantation.
  • [MeSH-major] Auditory Brain Stem Implants. Deafness / etiology. Deafness / surgery. Neuroma, Acoustic / complications. Neuroma, Acoustic / surgery. Otologic Surgical Procedures / methods
  • [MeSH-minor] Craniotomy / methods. Humans. Neurofibromatosis 2 / complications. Neurosurgical Procedures / methods. Prosthesis Design. Prosthesis Implantation / instrumentation

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  • (PMID = 17195743.001).
  • [ISSN] 1531-7129
  • [Journal-full-title] Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology
  • [ISO-abbreviation] Otol. Neurotol.
  • [Language] eng
  • [Publication-type] Journal Article; Research Support, Non-U.S. Gov't
  • [Publication-country] United States
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79. Javadpour M: Management of vestibular schwannomas in children: a role for adult surgeons in the paediatric world? and the merits of centralisation? Br J Neurosurg; 2009 Jun;23(3):232-3
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  • [Title] Management of vestibular schwannomas in children: a role for adult surgeons in the paediatric world? and the merits of centralisation?
  • [MeSH-major] Facial Nerve / surgery. Neurofibromatosis 2 / surgery. Neuroma, Acoustic / surgery

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  • [CommentOn] Br J Neurosurg. 2009 Jun;23(3):226-31 [19533454.001]
  • (PMID = 19533455.001).
  • [ISSN] 1360-046X
  • [Journal-full-title] British journal of neurosurgery
  • [ISO-abbreviation] Br J Neurosurg
  • [Language] eng
  • [Publication-type] Comment; Editorial
  • [Publication-country] England
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80. Evans DG, Moran A, King A, Saeed S, Gurusinghe N, Ramsden R: 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; 2005 Jan;26(1):93-7
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Incidence of vestibular schwannoma and neurofibromatosis 2 in the North West of England over a 10-year period: higher incidence than previously thought.
  • OBJECTIVE: To determine the incidence of vestibular schwannoma (VS) in sporadic, neurofibromatosis type 2 (NF2) germ-line and mosaic form in a 10-year period.
  • RESULTS: A total of 419 sporadic and 64 NF2-related VS were identified over the study period.
  • This represented an incidence of 10.4 per million per year for sporadic VS and 11.8 per million per year including NF2-related tumors.
  • The NF2 patient diagnoses represent an estimated birth incidence of 1 in 25,000, and 7% of the patients with VS had NF2, which is higher than previous estimates.
  • CONCLUSIONS: The incidence of VS is rising almost certainly due to increasing diagnosis in the magnetic resonance imaging era.
  • More VS than previously thought are due to NF2, which may be because of recognition of mosaic forms of the disease.
  • [MeSH-major] Neurofibromatosis 2 / epidemiology. Neuroma, Acoustic / epidemiology

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  • (PMID = 15699726.001).
  • [ISSN] 1531-7129
  • [Journal-full-title] Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology
  • [ISO-abbreviation] Otol. Neurotol.
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] United States
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81. Kawagoshi T, Uno Y, Matsubara K, Matsuda Y, Nishida C: The ZW micro-sex chromosomes of the Chinese soft-shelled turtle (Pelodiscus sinensis, Trionychidae, Testudines) have the same origin as chicken chromosome 15. Cytogenet Genome Res; 2009;125(2):125-31
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  • The Chinese soft-shelled turtle (Pelodiscus sinensis, Trionychidae, Testudines) has ZZ/ZW-type micro-sex chromosomes where the 18S-28S ribosomal RNA genes (18S-28S rDNA) are located.
  • Then we cloned turtle homologues of 4 other GGA15-linked genes (GIT2, NF2, SBNO1, SF3A1) and localized them to P. sinensis chromosomes.

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  • [Copyright] (c) 2009 S. Karger AG, Basel.
  • (PMID = 19729916.001).
  • [ISSN] 1424-859X
  • [Journal-full-title] Cytogenetic and genome research
  • [ISO-abbreviation] Cytogenet. Genome Res.
  • [Language] eng
  • [Publication-type] Journal Article; Research Support, Non-U.S. Gov't
  • [Publication-country] Switzerland
  • [Chemical-registry-number] 0 / DNA, Complementary
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82. Rohana AG, Norazmi MK, Norlaila M: A rare case of Von Hippel Lindau disease. Med J Malaysia; 2006 Jun;61(2):254-7
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  • [Title] A rare case of Von Hippel Lindau disease.
  • It may occur sporadically or be associated as part of a tumour syndrome including Von Hippel Lindau (VHL), Multiple Endocrine Neoplasia (MEN) 2 and Neurofibromatosis Type 1.
  • It is a rare disorder with prevalence estimated at 2-3 per 100,000.
  • This case report describes a 37 years old Chinese gentleman who presented to our institution for further management of bilateral pheochromocytoma and retinal angioblastoma with problems of duodenal ulcer and anaemia.
  • With these features the criteria for the diagnosis of von Hippel Lindau disease was established.
  • [MeSH-major] von Hippel-Lindau Disease / diagnosis
  • [MeSH-minor] Adrenal Gland Neoplasms / diagnosis. Adrenalectomy. Adult. Diagnosis, Differential. Humans. Male. Pheochromocytoma / diagnosis. Tomography, X-Ray Computed

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  • (PMID = 16898326.001).
  • [ISSN] 0300-5283
  • [Journal-full-title] The Medical journal of Malaysia
  • [ISO-abbreviation] Med. J. Malaysia
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] Malaysia
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83. Korf BR: The phakomatoses. Clin Dermatol; 2005 Jan-Feb;23(1):78-84
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  • He included 3 disorders in the group-neurofibromatosis, tuberous sclerosis complex, and von Hippel-Lindau syndrome--on the basis of the occurrence of patchy ophthalmologic manifestations in each disorder.
  • It is clear that 2 of them--neurofibromatosis and tuberous sclerosis--are collective terms for multiple disorders.
  • [MeSH-major] Genes, Tumor Suppressor. Genetic Predisposition to Disease / epidemiology. Neurocutaneous Syndromes / genetics
  • [MeSH-minor] Female. Humans. Incidence. Male. Neurofibromatosis 1 / epidemiology. Neurofibromatosis 1 / genetics. Neurofibromatosis 1 / therapy. Neurofibromatosis 2 / epidemiology. Neurofibromatosis 2 / genetics. Neurofibromatosis 2 / therapy. Prognosis. Risk Assessment. Severity of Illness Index. Tuberous Sclerosis / epidemiology. Tuberous Sclerosis / genetics. Tuberous Sclerosis / therapy. von Hippel-Lindau Disease / epidemiology. von Hippel-Lindau Disease / genetics. von Hippel-Lindau Disease / therapy

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  • (PMID = 15708292.001).
  • [ISSN] 0738-081X
  • [Journal-full-title] Clinics in dermatology
  • [ISO-abbreviation] Clin. Dermatol.
  • [Language] eng
  • [Publication-type] Comparative Study; Journal Article; Review
  • [Publication-country] United States
  • [Number-of-references] 85
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84. Denayer E, Brems H, de Cock P, Evans GD, Van Calenbergh F, Bowers N, Sciot R, Debiec-Rychter M, Vermeesch JV, Fryns JP, Legius E: Pathogenesis of vestibular schwannoma in ring chromosome 22. BMC Med Genet; 2009;10:97
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  • [Title] Pathogenesis of vestibular schwannoma in ring chromosome 22.
  • Clinical features of neurofibromatosis type 1 and 2 as well as different tumour types have been reported in patients with ring chromosome 22.
  • At the age of 20 years she was diagnosed with a unilateral vestibular schwannoma.
  • Tumour cells were analyzed by karyotyping, array CGH and NF2 mutation analysis.
  • Genetic analysis of vestibular schwannoma tissue revealed loss of the ring chromosome 22 and a somatic second hit in the NF2 gene on the remaining chromosome 22.
  • CONCLUSION: We conclude that tumours can arise by the combination of loss of the ring chromosome and a pathogenic NF2 mutation on the remaining chromosome 22 in patients with ring chromosome 22.
  • Our findings indicate that patients with a ring 22 should be monitored for NF2-related tumours starting in adolescence.
  • [MeSH-major] Chromosomes, Human, Pair 22. Neuroma, Acoustic / genetics. Ring Chromosomes
  • [MeSH-minor] Adult. Female. Genes, Neurofibromatosis 1. Genes, Neurofibromatosis 2. Humans. In Situ Hybridization, Fluorescence. Karyotyping. Magnetic Resonance Imaging. Mutation. Oligonucleotide Array Sequence Analysis. Phenotype. Sequence Analysis, DNA


85. Marco J, Fernández A, Iglesias F: [Neuropathy of the second trigeminal nerve branch as debut form of a type 2 neurofibromatosis with cystic lesion]. Neurologia; 2005 Jun;20(5):271
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  • [Title] [Neuropathy of the second trigeminal nerve branch as debut form of a type 2 neurofibromatosis with cystic lesion].
  • [Transliterated title] Neuropatía de la segunda rama del nervio trigémino como forma de inicio de una neurofibromatosis tipo 2 con lesión quística.
  • [MeSH-major] Brain / pathology. Neurofibromatosis 2 / pathology. Trigeminal Nerve / pathology

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  • (PMID = 15954038.001).
  • [ISSN] 0213-4853
  • [Journal-full-title] Neurología (Barcelona, Spain)
  • [ISO-abbreviation] Neurologia
  • [Language] spa
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] Spain
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86. Sachdeva R, Rothner DA, Traboulsi EI, Hayden BC, Rychwalski PJ: Astrocytic hamartoma of the optic disc and multiple café-au-lait macules in a child with neurofibromatosis type 2. Ophthalmic Genet; 2010 Dec;31(4):209-14
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  • [Title] Astrocytic hamartoma of the optic disc and multiple café-au-lait macules in a child with neurofibromatosis type 2.
  • Neurofibromatosis type 2 (NF2) is a heritable syndrome characterized by multifocal proliferation of neural crest-derived cells.
  • The characteristic and diagnostic finding of NF2 is bilateral vestibular nerve schwannomas (acoustic neuromas).
  • In addition to other tumors involving the central and peripheral nervous systems, ophthalmic manifestations, including posterior subcapsular and peripheral cortical cataracts, optic nerve meningiomas, epiretinal membrane, and combined pigment epithelial and retinal hamartomas, are common to NF2.
  • Herein we present an 8-year-old girl with NF2 and astrocytic hamartoma of the optic disc.
  • However, neuroimaging revealed bilateral acoustic neuromas, leading to a clinical diagnosis of NF2.
  • Subsequent molecular genetic analysis confirmed the NF2 diagnosis.
  • Multiple CAL macules and astrocytic hamartomas, while associated with NF1, are rarely associated with NF2.
  • Specifically, we are not aware of any reported cases of optic disc astrocytic hamartoma in the setting of NF2.
  • [MeSH-major] Astrocytes / pathology. Hamartoma / complications. Neurofibromatosis 2 / complications. Optic Disk / pathology. Optic Nerve Diseases / complications


87. Claus EB, Park PJ, Carroll R, Chan J, Black PM: Specific genes expressed in association with progesterone receptors in meningioma. Cancer Res; 2008 Jan 1;68(1):314-22
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  • Genes on the long arm of chromosome 22 and near the neurofibromatosis type 2 (NF2) gene (22q12) were most frequently noted to have expression variation, with significant up-regulation in PR+ versus PR- lesions, suggesting a higher rate of 22q loss in PR- lesions.
  • PR status is related to the expression of genes near the NF2 gene, mutations in which have been identified as the initial event in many meningiomas.

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  • [Cites] Int J Biol Markers. 2002 Jan-Mar;17(1):42-8 [11936585.001]
  • [Cites] Proc Natl Acad Sci U S A. 2003 Aug 5;100(16):9440-5 [12883005.001]
  • [Cites] Am J Pathol. 2002 Aug;161(2):665-72 [12163391.001]
  • [Cites] J Neurosurg. 2003 Nov;99(5):848-53 [14609164.001]
  • [Cites] J Clin Pathol. 2004 Oct;57(10):1033-7 [15452155.001]
  • [Cites] J Neurol Neurosurg Psychiatry. 1969 Aug;32(4):305-7 [4980021.001]
  • [Cites] J Neurosurg. 1979 Apr;50(4):499-502 [423006.001]
  • [Cites] J Neurosurg. 1987 Apr;66(4):584-7 [3559725.001]
  • [Cites] J Neurosurg. 1991 Jun;74(6):861-6 [2033444.001]
  • [Cites] Cancer. 1992 May 15;69(10):2541-7 [1568177.001]
  • [Cites] J Neurosurg. 1993 Mar;78(3):456-62 [8433149.001]
  • [Cites] J Neurooncol. 1993 Jan;15(1):75-7 [8455065.001]
  • [Cites] Cancer. 1993 Aug 1;72(3):639-48 [8334619.001]
  • [Cites] Acta Neurochir Suppl. 1996;65:50-3 [8738495.001]
  • [Cites] J Neurosurg. 1997 Jan;86(1):113-20 [8988089.001]
  • [Cites] Int J Cancer. 1997 Jul 29;72(3):389-93 [9247278.001]
  • [Cites] Proc Natl Acad Sci U S A. 1997 Dec 23;94(26):14719-24 [9405679.001]
  • [Cites] J Neurooncol. 1999 Apr;42(2):109-16 [10421067.001]
  • [Cites] Int J Cancer. 2005 Mar 20;114(2):249-56 [15540215.001]
  • [Cites] Int J Cancer. 2005 May 1;114(5):797-805 [15609304.001]
  • [Cites] Neurosurgery. 2005 Dec;57(6):1088-95; discussion 1088-95 [16331155.001]
  • [Cites] Int J Cancer. 2006 Sep 1;119(5):1152-7 [16570277.001]
  • [Cites] J Neuropathol Exp Neurol. 2006 May;65(5):445-54 [16772868.001]
  • [Cites] BMC Cancer. 2006;6:152 [16759391.001]
  • [Cites] Am J Epidemiol. 2006 Oct 1;164(7):629-36 [16835295.001]
  • [Cites] Cancer Invest. 2006 Dec;24(8):727-33 [17162554.001]
  • [Cites] J Neurosurg. 2006 Aug;105(2):163-73 [17219818.001]
  • [Cites] Diagn Mol Pathol. 2000 Mar;9(1):14-9 [10718208.001]
  • [Cites] Cancer. 2002 Mar 15;94(6):1626-35 [11920521.001]
  • [Cites] Neurosurgery. 2003 Apr;52(4):892-8; discussion 898-9 [12657186.001]
  • [Cites] Acta Neurol Belg. 2002 Jun;102(2):53-62 [12161900.001]
  • (PMID = 18172325.001).
  • [ISSN] 1538-7445
  • [Journal-full-title] Cancer research
  • [ISO-abbreviation] Cancer Res.
  • [Language] eng
  • [Grant] United States / NCI NIH HHS / CA / R01 CA109461; United States / NCI NIH HHS / CA / R01 CA109461; United States / NCI NIH HHS / CA / R01 CA109461-02; United States / NCI NIH HHS / CA / R01 CA109468; United States / NCI NIH HHS / CA / R01 CA109468; United States / NCI NIH HHS / CA / R01 CA109468-02; United States / NCI NIH HHS / CA / R01 CA109745; United States / NCI NIH HHS / CA / R01 CA151933
  • [Publication-type] Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / Receptors, Estrogen; 0 / Receptors, Progesterone
  • [Other-IDs] NLM/ NIHMS341364; NLM/ PMC3256746
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88. Wozniak K, Piaskowski S, Gresner SM, Golanska E, Bieniek E, Bigoszewska K, Sikorska B, Szybka M, Kulczycka-Wojdala D, Zakrzewska M, Zawlik I, Papierz W, Stawski R, Jaskolski DJ, Och W, Sieruta M, Liberski PP, Rieske P: BCR expression is decreased in meningiomas showing loss of heterozygosity of 22q within a new minimal deletion region. Cancer Genet Cytogenet; 2008 May;183(1):14-20
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  • Neurofibromin 2 (NF2), located on chromosome arm 22q, has been established as a tumor suppressor gene involved in meningioma pathogenesis.
  • In our study, we investigated 149 meningiomas to determine whether there are additional tumor suppressor genes localized on chromosome 22q, apart from NF2, that might be involved in meningioma pathogenesis.
  • The LOH analysis on chromosome 22q identified two regions of deletion: the first one, which is limited to the NF2 gene locus, and the second one, which is outside this location.
  • The expression levels of all these genes, including NF2, were subsequently analyzed by quantitative real-time polymerase chain reaction.
  • We observed a significantly lowered expression level of NF2 in meningiomas with 22q loss of heterozygosity (LOH) within NF2 region compared to the one in meningiomas with 22q retention of heterozygosity (ROH, P<0.05).

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  • (PMID = 18474292.001).
  • [ISSN] 1873-4456
  • [Journal-full-title] Cancer genetics and cytogenetics
  • [ISO-abbreviation] Cancer Genet. Cytogenet.
  • [Language] eng
  • [Publication-type] Journal Article; Research Support, Non-U.S. Gov't
  • [Publication-country] United States
  • [Chemical-registry-number] EC 2.7.11.1 / BCR protein, human; EC 2.7.11.1 / Proto-Oncogene Proteins c-bcr
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89. van Tilborg AA, Al Allak B, Velthuizen SC, de Vries A, Kros JM, Avezaat CJ, de Klein A, Beverloo HB, Zwarthoff EC: Chromosomal instability in meningiomas. J Neuropathol Exp Neurol; 2005 Apr;64(4):312-22
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  • Approximately 60% of sporadic meningiomas are caused by inactivation of the NF2 tumor suppressor gene on chromosome 22.
  • Cytogenetic analysis shows that meningiomas caused by inactivation of the NF2 gene can be divided into tumors that show monosomy 22 as the sole abnormality and tumors with a more complex karyotype.
  • Meningiomas not caused by the NF2 gene usually have a diploid karyotype.
  • However, this numerical instability resulted in a clonal karyotype with chromosomal gains and losses in addition to loss of chromosome 22 only in meningiomas caused by inactivation of the NF2 gene.
  • In cultured cells of all tumor groups, bi- and multinucleated cells were seen, as well as anaphase bridges, residual chromatid strings, multiple spindle poles, and unseparated chromatids, suggesting defects in the mitotic apparatus or kinetochore.
  • [MeSH-minor] Adolescent. Adult. Aged. Aged, 80 and over. Cell Division / genetics. Child. Child, Preschool. Chromosome Aberrations. Chromosomes, Human, Pair 22. Genes, Neurofibromatosis 2. Humans. Karyotyping. Loss of Heterozygosity. Middle Aged

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  • (PMID = 15835267.001).
  • [ISSN] 0022-3069
  • [Journal-full-title] Journal of neuropathology and experimental neurology
  • [ISO-abbreviation] J. Neuropathol. Exp. Neurol.
  • [Language] eng
  • [Publication-type] Journal Article; Research Support, Non-U.S. Gov't
  • [Publication-country] United States
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90. Łaniewski-Wołłk M, Gos M, Koziarski A, Szpecht-Potocka A: Identification of mutations in the NF2 gene in Polish patients with neurofibromatosis type 2. J Appl Genet; 2008;49(3):297-300
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  • [Title] Identification of mutations in the NF2 gene in Polish patients with neurofibromatosis type 2.
  • Point mutation and loss of heterozygosity (LOH) analyses were performed in 12 Polish patients with a classic symptom of NF2 - bilateral vestibular schwannomas (BVS).
  • In 5 patients (41.7%), germline mutations were found in the NF2 gene: 2 previously reported substitutions (c.592C>T and c.52C>T) and 3 novel mutations (c.1001_1002insG, c.1029_1030insCC, c.774_778dupGAATG).
  • In addition, LOH analysis of 30 tumour samples from 10 patients revealed a molecular basis of NF2 in 3 patients (25%) that did not have any germline mutation.
  • The molecular defects in sporadic cases of NF2 are still being discussed.
  • [MeSH-major] Germ-Line Mutation / genetics. Loss of Heterozygosity. Neurofibromatosis 2 / genetics

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  • [Cites] Neurosurgery. 1996 May;38(5):880-5; discussion 885-6 [8727812.001]
  • [Cites] J Med Genet. 2003 Feb;40(2):109-14 [12566519.001]
  • [Cites] Hum Mol Genet. 1994 Mar;3(3):413-9 [8012353.001]
  • [Cites] J Cell Sci. 2001 May;114(Pt 10):1901-12 [11329377.001]
  • [Cites] Nat Genet. 1994 Feb;6(2):180-4 [8162072.001]
  • [Cites] J Biol Chem. 2001 Aug 31;276(35):33093-100 [11432873.001]
  • [Cites] Oncogene. 1997 Nov 13;15(20):2505-9 [9395247.001]
  • [Cites] Neurology. 2002 Dec 10;59(11):1759-65 [12473765.001]
  • [Cites] Trends Cell Biol. 2001 Nov;11(11):442-4 [11684412.001]
  • [Cites] Am J Hum Genet. 1996 Aug;59(2):331-42 [8755919.001]
  • [Cites] Nature. 1993 Jun 10;363(6429):515-21 [8379998.001]
  • [Cites] Am J Hum Genet. 1996 Sep;59(3):529-39 [8751853.001]
  • [Cites] Genes Chromosomes Cancer. 2005 Apr;42(4):384-91 [15645494.001]
  • [Cites] J Biol Chem. 2002 Mar 22;277(12):10332-6 [11756419.001]
  • [Cites] J Pathol. 2006 Mar;208(4):564-73 [16353169.001]
  • [Cites] J Cell Sci. 1999 Mar;112 ( Pt 6):895-904 [10036239.001]
  • [Cites] Hum Genet. 1996 Nov;98(5):534-8 [8882871.001]
  • [Cites] Genes Chromosomes Cancer. 1995 Feb;12(2):117-27 [7535084.001]
  • [Cites] J Med Genet. 1998 Jun;35(6):450-5 [9643284.001]
  • [Cites] Am J Med Genet. 1994 Oct 1;52(4):450-61 [7747758.001]
  • [Cites] Genes Dev. 2001 Apr 15;15(8):968-80 [11316791.001]
  • (PMID = 18670066.001).
  • [ISSN] 1234-1983
  • [Journal-full-title] Journal of applied genetics
  • [ISO-abbreviation] J. Appl. Genet.
  • [Language] eng
  • [Publication-type] Journal Article; Research Support, Non-U.S. Gov't
  • [Publication-country] England
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91. Bosch MM, Boltshauser E, Harpes P, Landau K: Ophthalmologic findings and long-term course in patients with neurofibromatosis type 2. Am J Ophthalmol; 2006 Jun;141(6):1068-1077
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  • [Title] Ophthalmologic findings and long-term course in patients with neurofibromatosis type 2.
  • PURPOSE: To evaluate ophthalmologic findings and long-term course in patients with neurofibromatosis type 2 (NF2).
  • STUDY POPULATION: Thirty referred patients with NF2 were enrolled from 1991 to 2003 and underwent at least one thorough neuroophthalmologic examination.
  • MAIN OUTCOME MEASURES: Visual function, structural ocular abnormalities, onset and type of presenting NF2-related symptoms, and number of central nervous system tumors.
  • RESULTS: Initial symptoms for patients with early-onset NF2 mostly comprised ophthalmologic symptoms (n = 7) and lower motor neuron extremity weakness (n = 6), as opposed to eighth nerve impairment (n = 11) in late disease onset.
  • NF2-specific ocular findings were noted in 83% of all patients (94% childhood onset; 67% adult onset): 67% had cataracts, 40% epiretinal membranes, 3% hamartoma, 13% disk gliomas, and 27% optic nerve sheath meningiomas.
  • Significantly more patients with early onset of symptoms developed multiple central nervous system tumors (P = .004) and showed a higher amount of NF2-specific findings (P = .015).
  • CONCLUSIONS: Initial manifestations of NF2 differ between children and adults.
  • NF2-specific ophthalmologic findings can help establish the diagnosis.
  • Symptom onset at a young age is clearly a risk factor for marked disease progression.
  • These patients should be carefully followed because survival rates have increased, and vision becomes increasingly important as the disease progresses.
  • [MeSH-major] Eye Diseases / diagnosis. Neurofibromatosis 2 / diagnosis
  • [MeSH-minor] Adolescent. Adult. Aged. Child. Disease Progression. Female. Follow-Up Studies. Humans. Magnetic Resonance Imaging. Male. Middle Aged. Phenotype. Retrospective Studies. Visual Acuity


92. Zhang X, Milton CC, Humbert PO, Harvey KF: Transcriptional output of the Salvador/warts/hippo pathway is controlled in distinct fashions in Drosophila melanogaster and mammalian cell lines. Cancer Res; 2009 Aug 1;69(15):6033-41
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  • Several SWH pathway components are mutated or expressed at altered levels in different human tumors including NF2, LATS1, LATS2, SAV1, and YAP.

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  • (PMID = 19584286.001).
  • [ISSN] 1538-7445
  • [Journal-full-title] Cancer research
  • [ISO-abbreviation] Cancer Res.
  • [Language] eng
  • [Publication-type] Journal Article; Research Support, Non-U.S. Gov't
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / Cell Cycle Proteins; 0 / Drosophila Proteins; 0 / Intracellular Signaling Peptides and Proteins; 0 / Nuclear Proteins; 0 / Trans-Activators; 0 / Transcription Factors; 0 / YY1AP1 protein, human; 0 / Yorkie protein, Drosophila; 0 / salvador protein, Drosophila; EC 2.7.- / Protein Kinases; EC 2.7.1.- / warts protein, Drosophila; EC 2.7.11.1 / Protein-Serine-Threonine Kinases; EC 2.7.11.1 / hpo protein, Drosophila
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93. Ruggieri M, Iannetti P, Polizzi A, La Mantia I, Spalice A, Giliberto O, Platania N, Gabriele AL, Albanese V, Pavone L: Earliest clinical manifestations and natural history of neurofibromatosis type 2 (NF2) in childhood: a study of 24 patients. Neuropediatrics; 2005 Feb;36(1):21-34
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  • [Title] Earliest clinical manifestations and natural history of neurofibromatosis type 2 (NF2) in childhood: a study of 24 patients.
  • BACKGROUND: Neurofibromatosis type 2 (NF2) is an autosomal dominant disease characterised by the development of multiple nervous system tumours, ocular abnormalities, and skin tumours.
  • Although classically considered a disease of adults, initial signs and/or symptoms may be evident in childhood and are often unrecognised.
  • OBJECTIVES: The aim of this study was to identify the earliest clinical presentations of NF2 and to characterise the clinical course and outcome in children with NF2.
  • METHODS: We have performed a retrospective (years 1990-1998) and prospective (years 1998-2004) study of 24 patients (10 males, 14 females; currently aged 4 to 22 years) fulfilling the revised (Manchester) NF2 criteria seen at the Universities of Catania and Rome, Italy.
  • RESULTS: Causes of referral prior to a definitive diagnosis of NF2 were:.
  • 3) Neurological dysfunction: seizures secondary to intracranial meningioma (n = 1) or vestibular schwannomas (VS) (n = 1), neurological dysfunction related to brainstem and/or spinal cord tumours (n = 7), isolated and multiple cranial nerve deficits (n = 10), and peripheral neuropathy secondary to schwannomas (n = 4);.
  • Molecular genetic analysis of the NF2 gene revealed typical truncating mutations in all the 5 familial cases and in 2/10 sporadic cases analysed.
  • CONCLUSIONS: Children with NF2 often first come to medical attention because of ocular, subtle skin, or neurological problems the significance of which is realised when they later present with more classical symptoms due to bilateral VS or other intracranial tumours.
  • [MeSH-major] Neurofibromatosis 2 / physiopathology. Otorhinolaryngologic Diseases / etiology


94. Chang Z, Guo CL, Ahronowitz I, Stemmer-Rachamimov AO, MacCollin M, Nunes FP: A role for the p53 pathway in the pathology of meningiomas with NF2 loss. J Neurooncol; 2009 Feb;91(3):265-70
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  • [Title] A role for the p53 pathway in the pathology of meningiomas with NF2 loss.
  • The neurofibromatosis 2 locus (NF2) is inactivated through mutation and loss of heterozygosity (LOH) in 40-65% of all sporadic meningiomas, while the role of the p53 tumor suppression pathway in meningioma initiation and progression is still unclear.
  • We investigated Pro72 incidence in a cohort of 92 sporadic meningiomas and analyzed its association with histological grade (WHO classification) and with NF2 LOH (determined using polymorphic microsatellite markers on 22q).
  • However, in the subgroup of meningiomas with NF2 LOH and carrying Pro72, 50.0% had high grade tumors (WHO grades II and III) compared to only 14.3% of those without NF2 LOH (OR = 6.0, CI = 1.56-23.11, P = 0.012).
  • The significant association occurred only when considering subgroups of meningiomas with or without NF2 LOH, suggesting that not including NF2 status when analyzing study cohorts may explain the variability seen in the literature where all meningiomas were grouped together.
  • Our data suggests a role for the p53 pathway in the progression of meningiomas in which NF2 is inactivated, and highlights the importance of accounting for NF2 LOH in future studies of meningiomas and the p53 pathway.

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  • [Cites] J Neuropathol Exp Neurol. 1995 Mar;54(2):224-35 [7876890.001]
  • [Cites] Nucleic Acids Res. 1994 Sep;22(17):3551-5 [7937055.001]
  • [Cites] Cell. 1997 Feb 7;88(3):323-31 [9039259.001]
  • [Cites] J Neurooncol. 1997 Mar;32(1):39-44 [9049861.001]
  • [Cites] Nature. 1997 May 15;387(6630):296-9 [9153395.001]
  • [Cites] Nature. 1997 May 15;387(6630):299-303 [9153396.001]
  • [Cites] Cell Growth Differ. 1997 Aug;8(8):829-38 [9269892.001]
  • [Cites] Genes Dev. 1997 Aug 1;11(15):1974-86 [9271120.001]
  • [Cites] FEBS Lett. 1997 Dec 22;420(1):25-7 [9450543.001]
  • [Cites] Cell. 1998 Mar 20;92(6):713-23 [9529248.001]
  • [Cites] J Neurooncol. 1998 May;38(1):41-9 [9540056.001]
  • [Cites] J Biol Chem. 1999 Mar 26;274(13):8371-4 [10085066.001]
  • [Cites] Cell. 2004 Nov 24;119(5):591-602 [15550242.001]
  • [Cites] Asian J Surg. 2005 Jan;28(1):7-10 [15691789.001]
  • [Cites] Clin Cancer Res. 2005 Jul 15;11(14):5098-103 [16033823.001]
  • [Cites] BMC Cancer. 2005;5:105 [16109171.001]
  • [Cites] Clin Neuropathol. 2005 Sep-Oct;24(5):219-24 [16167545.001]
  • [Cites] Cancer Epidemiol Biomarkers Prev. 2005 Sep;14(9):2220-3 [16172235.001]
  • [Cites] Cancer Genet Cytogenet. 2005 Oct 15;162(2):135-9 [16213361.001]
  • [Cites] J Neurooncol. 2006 Oct;80(1):1-7 [16703453.001]
  • [Cites] Nature. 2006 Nov 2;444(7115):61-6 [17080083.001]
  • [Cites] EMBO J. 2007 Feb 21;26(4):923-34 [17268548.001]
  • [Cites] Zhonghua Yan Ke Za Zhi. 2006 Nov;42(11):998-1001 [17386138.001]
  • [Cites] Mol Cancer Res. 2007 Apr;5(4):351-62 [17426250.001]
  • [Cites] J Neurooncol. 2007 May;82(3):229-37 [17151932.001]
  • [Cites] J Neurooncol. 2007 May;83(1):9-15 [17245624.001]
  • [Cites] Cancer Res. 1999 Dec 1;59(23):5995-8 [10606247.001]
  • [Cites] Nat Genet. 2000 May;25(1):47-54 [10802655.001]
  • [Cites] Cancer Epidemiol Biomarkers Prev. 2000 Oct;9(10):1037-42 [11045785.001]
  • [Cites] N Engl J Med. 2001 Jan 11;344(2):114-23 [11150363.001]
  • [Cites] FEBS Lett. 2001 Jan 19;488(3):110-5 [11163756.001]
  • [Cites] J Biol Chem. 2002 Feb 15;277(7):5484-9 [11729185.001]
  • [Cites] Genes Dev. 2002 May 1;16(9):1060-5 [12000789.001]
  • [Cites] Physiol Res. 2002;51(1):59-64 [12071291.001]
  • [Cites] Int J Cancer. 2003 Feb 10;103(4):483-8 [12478663.001]
  • [Cites] Nat Genet. 2003 Mar;33(3):357-65 [12567188.001]
  • [Cites] J Biol Chem. 2004 Feb 27;279(9):7812-8 [14679203.001]
  • [Cites] J Neuropathol Exp Neurol. 2004 Apr;63(4):275-86 [15099018.001]
  • [Cites] Mod Pathol. 2004 Jun;17(6):705-10 [15073599.001]
  • [Cites] Mol Cell Biol. 2004 Aug;24(15):6728-41 [15254240.001]
  • [Cites] J Neurosurg. 2004 Aug;101(2):210-8 [15309910.001]
  • [Cites] J Neurosurg. 1984 May;60(5):985-93 [6716168.001]
  • [Cites] Science. 1989 Apr 14;244(4901):217-21 [2649981.001]
  • [Cites] Cell. 1992 Jun 26;69(7):1237-45 [1535557.001]
  • [Cites] Mol Carcinog. 1993;8(2):74-80 [8397797.001]
  • [Cites] Nat Genet. 1994 Feb;6(2):180-4 [8162072.001]
  • [Cites] Genes Chromosomes Cancer. 1994 Jun;10(2):122-30 [7520265.001]
  • [Cites] Neuropathol Appl Neurobiol. 1995 Apr;21(2):136-42 [7609844.001]
  • (PMID = 18974932.001).
  • [ISSN] 1573-7373
  • [Journal-full-title] Journal of neuro-oncology
  • [ISO-abbreviation] J. Neurooncol.
  • [Language] ENG
  • [Grant] United States / NINDS NIH HHS / NS / NS024279-20A29010; United States / NINDS NIH HHS / NS / R01 NS040527; United States / NINDS NIH HHS / NS / 1 R01 NS 40527; United States / NINDS NIH HHS / NS / P01 NS024279-20A29010
  • [Publication-type] Journal Article; Research Support, N.I.H., Extramural
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / Tumor Suppressor Protein p53; 94ZLA3W45F / Arginine; 9DLQ4CIU6V / Proline
  • [Other-IDs] NLM/ NIHMS112326; NLM/ PMC2692701
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95. Fayad JN, Otto SR, Brackmann DE: Auditory brainstem implants: surgical aspects. Adv Otorhinolaryngol; 2006;64:144-53
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  • Patients with neurofibromatosis type 2 often develop bilateral life-threatening vestibular schwannoma necessitating tumor removal, which results in deafness.
  • We developed the auditory brainstem implant (ABI) in order to be able to electrically stimulate the cochlear nucleus complex in patients with bilateral cochlear nerve injury from bilateral schwannoma.
  • After tumor removal, the electrode array of the ABI is inserted into the lateral recess of the fourth ventricle and placed over the surface of the ventral and dorsal cochlear nuclei.
  • The surgical anatomy of the nucleus and surgical placement of the ABI in patients with neurofibromatosis type 2 are described, and surgical considerations in this group of challenging patients are detailed.
  • [MeSH-minor] Ear, Inner / surgery. Humans. Neurofibromatosis 2 / complications. Neurofibromatosis 2 / physiopathology. Neuroma, Acoustic / complications. Neuroma, Acoustic / etiology. Patient Selection. Prostheses and Implants. Tomography, X-Ray Computed. Treatment Outcome

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  • (PMID = 16891840.001).
  • [ISSN] 0065-3071
  • [Journal-full-title] Advances in oto-rhino-laryngology
  • [ISO-abbreviation] Adv. Otorhinolaryngol.
  • [Language] eng
  • [Publication-type] Journal Article; Review
  • [Publication-country] Switzerland
  • [Number-of-references] 16
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96. Asthagiri AR, Parry DM, Butman JA, Kim HJ, Tsilou ET, Zhuang Z, Lonser RR: Neurofibromatosis type 2. Lancet; 2009 Jun 6;373(9679):1974-86
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  • [Title] Neurofibromatosis type 2.
  • Neurofibromatosis type 2 is an autosomal-dominant multiple neoplasia syndrome that results from mutations in the NF2 tumour suppressor gene located on chromosome 22q.
  • Half of patients inherit a germline mutation from an affected parent and the remainder acquire a de novo mutation for neurofibromatosis type 2.
  • Optimum treatment is multidisciplinary because of the complexities associated with management of the multiple, progressive, and protean lesions associated with the disorder.
  • We review the molecular pathogenesis, genetics, clinical findings, and management strategies for neurofibromatosis type 2.
  • [MeSH-major] Neurofibromatosis 2
  • [MeSH-minor] Cataract / etiology. Chromosomes, Human, Pair 22 / genetics. Disease Progression. Gene Frequency / genetics. Genes, Neurofibromatosis 2. Genetic Testing. Humans. Molecular Biology. Mutation / genetics. Nervous System Neoplasms / etiology. Neurofibromin 2 / genetics. Patient Care Team / organization & administration. Pedigree. Penetrance. Peripheral Nervous System Diseases / etiology. Skin Neoplasms / etiology. Survival Rate


97. Pytel P, Karrison T, Can Gong, Tonsgard JH, Krausz T, Montag AG: Neoplasms with schwannian differentiation express transcription factors known to regulate normal schwann cell development. Int J Surg Pathol; 2010 Dec;18(6):449-57
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  • No differences were found in the analyzed tumor subgroups, including schwannomas of different sites, schwannomas with or without NF2 association, neurofibromas of different types, or sporadic versus NF1-associated MPNSTs.
  • Screening the expression of FoxD3, Sox9, and Sox10 on 23 cases of other spindle-cell proliferations that may be considered in the differential diagnosis of MPNST, including synovial sarcoma and spindle cell melanoma, suggests that these 3 are helpful markers of Schwannian differentiation in the context of diagnosing MPNSTs.

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  • (PMID = 20034979.001).
  • [ISSN] 1940-2465
  • [Journal-full-title] International journal of surgical pathology
  • [ISO-abbreviation] Int. J. Surg. Pathol.
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / Transcription Factors
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98. De la Cruz A, Teufert KB: Transcochlear approach to cerebellopontine angle and clivus lesions: indications, results, and complications. Otol Neurotol; 2009 Apr;30(3):373-80
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  • The remainder included tumors associated with NF2, acoustic tumors, malignancies, and other lesions.

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  • (PMID = 19318889.001).
  • [ISSN] 1537-4505
  • [Journal-full-title] Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology
  • [ISO-abbreviation] Otol. Neurotol.
  • [Language] eng
  • [Publication-type] Comparative Study; Journal Article
  • [Publication-country] United States
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99. Vogel TW, Brouwers FM, Lubensky IA, Vortmeyer AO, Weil RJ, Walther MM, Oldfield EH, Linehan WM, Pacak K, Zhuang Z: Differential expression of erythropoietin and its receptor in von hippel-lindau-associated and multiple endocrine neoplasia type 2-associated pheochromocytomas. J Clin Endocrinol Metab; 2005 Jun;90(6):3747-51
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  • [Title] Differential expression of erythropoietin and its receptor in von hippel-lindau-associated and multiple endocrine neoplasia type 2-associated pheochromocytomas.
  • Pheochromocytoma is a neuroendocrine tumor associated with a variety of genetic disorders, which include von Hippel-Lindau disease (VHL), multiple endocrine neoplasia type 2 (MEN 2), neurofibromatosis type 1, hereditary paraganglioma, and succinate dehydrogenase gene-related tumors.
  • [MeSH-major] Adrenal Gland Neoplasms / genetics. Erythropoietin / genetics. Multiple Endocrine Neoplasia Type 2a / genetics. Multiple Endocrine Neoplasia Type 2b / genetics. Pheochromocytoma / genetics. Receptors, Erythropoietin / genetics. von Hippel-Lindau Disease / genetics


100. Pasini B, Stratakis CA: SDH mutations in tumorigenesis and inherited endocrine tumours: lesson from the phaeochromocytoma-paraganglioma syndromes. J Intern Med; 2009 Jul;266(1):19-42
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  • Beside the well-known syndromes associated with an increased risk of adrenal phaeochromocytoma, Von Hippel Lindau disease, multiple endocrine neoplasia type 2 and neurofibromatosis type 1, the study of inherited predisposition to head and neck paragangliomas led to the discovery of the novel 'paraganglioma-phaeochromocytoma syndrome' caused by germline mutations in three genes encoding subunits of the succinate dehydrogenase (SDH) enzyme (SDHB, SDHC and SDHD) thus opening an unexpected connection between mitochondrial tumour suppressor genes and neural crest-derived cancers.
  • Germline mutations in SDH genes are responsible for 6% and 9% of sporadic paragangliomas and phaeochromocytomas, respectively, 29% of paediatric cases, 38% of malignant tumours and more than 80% of familial aggregations of paraganglioma and phaeochromocytoma.
  • The disease is characterized by autosomal dominant inheritance with a peculiar parent-of-origin effect for SDHD mutations.

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  • [Cites] J Clin Endocrinol Metab. 2005 Apr;90(4):2127-30 [15623805.001]
  • [Cites] JAMA. 2005 Oct 26;294(16):2057-63 [16249420.001]
  • [Cites] Cancer Res. 2005 Nov 1;65(21):9651-8 [16266984.001]
  • [Cites] J Clin Oncol. 2005 Dec 1;23(34):8812-8 [16314641.001]
  • [Cites] Endocr Relat Cancer. 2005 Dec;12(4):1011-6 [16322339.001]
  • [Cites] Genes Chromosomes Cancer. 2006 Mar;45(3):213-9 [16258955.001]
  • [Cites] BMC Med Genet. 2005;6:39 [16288654.001]
  • [Cites] BMC Med Genet. 2006;7:1 [16405730.001]
  • [Cites] Intern Med J. 2006 Feb;36(2):129-31 [16472267.001]
  • [Cites] J Clin Endocrinol Metab. 2006 Mar;91(3):827-36 [16317055.001]
  • [Cites] Ann Clin Biochem. 2006 Mar;43(Pt 2):156-60 [16536919.001]
  • [Cites] J Endocrinol Invest. 2006 Apr;29(4):350-2 [16699302.001]
  • [Cites] J Clin Endocrinol Metab. 2006 Aug;91(8):3071-5 [16757530.001]
  • [Cites] ANZ J Surg. 2006 Aug;76(8):763-4 [16916404.001]
  • [Cites] Pediatr Blood Cancer. 2006 Nov;47(6):785-9 [16304664.001]
  • [Cites] Am J Med Genet A. 2006 Nov 15;140(22):2441-6 [17041923.001]
  • [Cites] J Clin Endocrinol Metab. 2006 Nov;91(11):4505-9 [16912137.001]
  • [Cites] Ann N Y Acad Sci. 2006 Aug;1073:138-48 [17102080.001]
  • [Cites] Eur Arch Otorhinolaryngol. 2008 May;265(5):557-63 [17987308.001]
  • [Cites] An Pediatr (Barc). 2008 May;68(5):527-9 [18448004.001]
  • [Cites] Endocr Pract. 2008 Apr;14(3):340-6 [18463041.001]
  • [Cites] J Clin Endocrinol Metab. 2008 May;93(5):1609-15 [18211978.001]
  • [Cites] Endocr J. 2008 May;55(2):299-303 [18362451.001]
  • [Cites] Diagn Mol Pathol. 2008 Jun;17(2):94-100 [18382370.001]
  • [Cites] J Hypertens. 2008 Jul;26(7):1395-401 [18551016.001]
  • [Cites] Head Neck. 2008 Jul;30(7):964-9 [18213727.001]
  • [Cites] Anal Quant Cytol Histol. 2008 Apr;30(2):119-23 [18561749.001]
  • [Cites] Am J Hum Genet. 2008 Aug;83(2):261-8 [18678321.001]
  • [Cites] J Clin Endocrinol Metab. 2007 Dec;92(12):4853-64 [17848412.001]
  • [Cites] Eur J Hum Genet. 2008 Jan;16(1):79-88 [17667967.001]
  • [Cites] Nat Clin Pract Endocrinol Metab. 2008 Feb;4(2):111-5 [18212813.001]
  • [Cites] Clin Endocrinol (Oxf). 2008 Apr;68(4):561-6 [17973943.001]
  • [Cites] Genes Dev. 2008 Apr 1;22(7):884-93 [18334619.001]
  • [Cites] J Med Genet. 2008 Apr;45(4):233-8 [18057081.001]
  • [Cites] Cancer Res. 2000 Dec 15;60(24):6822-5 [11156372.001]
  • [Cites] Lancet. 2001 Apr 14;357(9263):1181-2 [11323050.001]
  • [Cites] Am J Med Genet. 2001 May 15;100(4):311-4 [11343322.001]
  • [Cites] Genes Chromosomes Cancer. 2001 Jul;31(3):255-63 [11391796.001]
  • [Cites] Genes Chromosomes Cancer. 2001 Jul;31(3):274-81 [11391798.001]
  • [Cites] Am J Pathol. 2001 Jun;158(6):1937-42 [11395368.001]
  • [Cites] J Clin Endocrinol Metab. 2001 Jun;86(6):2890-4 [11397905.001]
  • [Cites] Am J Hum Genet. 2001 Jul;69(1):49-54 [11404820.001]
  • [Cites] Am J Med Genet. 2001 Jan 1;98(1):32-6 [11426453.001]
  • [Cites] Oncogene. 2001 Aug 16;20(36):5084-6 [11526495.001]
  • [Cites] Am J Hum Genet. 2001 Dec;69(6):1186-97 [11605159.001]
  • [Cites] Laryngoscope. 2001 Oct;111(10):1822-7 [11801952.001]
  • [Cites] Biochim Biophys Acta. 2002 Jan 17;1553(1-2):140-57 [11803023.001]
  • [Cites] Oncogene. 2002 Feb 7;21(7):1117-22 [11850829.001]
  • [Cites] Int J Cancer. 2002 Feb 20;97(6):875-7 [11857371.001]
  • [Cites] J Med Genet. 2002 Mar;39(3):178-83 [11897817.001]
  • [Cites] N Engl J Med. 2002 May 9;346(19):1459-66 [12000816.001]
  • [Cites] Genes Chromosomes Cancer. 2002 Jul;34(3):325-32 [12007193.001]
  • [Cites] Eur J Hum Genet. 2002 Aug;10(8):457-61 [12111639.001]
  • [Cites] Clin Cancer Res. 2002 Jul;8(7):2061-6 [12114404.001]
  • [Cites] J Clin Endocrinol Metab. 2002 Sep;87(9):4101-5 [12213855.001]
  • [Cites] Otol Neurotol. 2002 Sep;23(5):755-9 [12218630.001]
  • [Cites] Mol Aspects Med. 2002 Oct;23(5):369-84 [12231007.001]
  • [Cites] Hum Mol Genet. 2002 Oct 1;11(20):2347-54 [12351569.001]
  • [Cites] J Med Genet. 2002 Oct;39(10):E64 [12362046.001]
  • [Cites] J Clin Endocrinol Metab. 2002 Oct;87(10):4771-4 [12364472.001]
  • [Cites] J Natl Cancer Inst. 2008 Sep 3;100(17):1260-2 [18728283.001]
  • [Cites] Clin Endocrinol (Oxf). 2008 Oct;69(4):587-96 [18419787.001]
  • [Cites] Hum Genet. 2008 Oct;124(3):279-85 [18726616.001]
  • [Cites] Eur J Vasc Endovasc Surg. 2008 Nov;36(5):517-9 [18692411.001]
  • [Cites] Clin Endocrinol (Oxf). 2008 Dec;69(6):906-10 [18681855.001]
  • [Cites] Oncogene. 2002 Oct 24;21(49):7605-8 [12386824.001]
  • [Cites] Head Neck. 2003 Feb;25(2):146-51 [12509798.001]
  • [Cites] Science. 2003 Jan 31;299(5607):700-4 [12560550.001]
  • [Cites] Oncogene. 2003 Mar 6;22(9):1358-64 [12618761.001]
  • [Cites] Hum Genet. 2003 Jul;113(1):92-4 [12658451.001]
  • [Cites] Laryngoscope. 2003 Jun;113(6):1055-8 [12782822.001]
  • [Cites] J Med Genet. 2003 Jun;40(6):e75 [12807974.001]
  • [Cites] Lancet. 1989 Dec 2;2(8675):1291-4 [2574254.001]
  • [Cites] Otolaryngol Head Neck Surg. 1990 Apr;102(4):382-90 [2113266.001]
  • [Cites] Hum Mol Genet. 1992 Apr;1(1):7-10 [1301144.001]
  • [Cites] Hum Genet. 1993 May;91(4):357-61 [8388849.001]
  • [Cites] Hum Genet. 1995 Jan;95(1):56-62 [7814027.001]
  • [Cites] Eur J Hum Genet. 1994;2(3):148-58 [7834274.001]
  • [Cites] Nat Genet. 1995 Oct;11(2):144-9 [7550341.001]
  • [Cites] Am J Hum Genet. 1997 Jan;60(1):121-32 [8981955.001]
  • [Cites] J Clin Endocrinol Metab. 1997 Jun;82(6):1766-71 [9177379.001]
  • [Cites] J Clin Endocrinol Metab. 1997 Aug;82(8):2559-65 [9253334.001]
  • [Cites] Am J Med Genet. 1997 Oct 3;72(1):66-70 [9295078.001]
  • [Cites] Ann Surg. 1999 Jun;229(6):755-64; discussion 764-6 [10363888.001]
  • [Cites] J Clin Endocrinol Metab. 2004 Nov;89(11):5694-9 [15531530.001]
  • [Cites] Br J Cancer. 2004 Nov 15;91(10):1835-41 [15505628.001]
  • [Cites] Cancer Cell. 2005 Jan;7(1):77-85 [15652751.001]
  • [Cites] Genes Chromosomes Cancer. 2005 Mar;42(3):260-8 [15609347.001]
  • [Cites] Eur J Pediatr. 2004 Dec;163(12):701-3 [15365827.001]
  • [Cites] Eur J Endocrinol. 2005 Jan;152(1):87-94 [15762191.001]
  • [Cites] J Clin Oncol. 2005 Mar 20;23(9):1894-901 [15774781.001]
  • [Cites] Endocr Relat Cancer. 2005 Mar;12(1):161-72 [15788647.001]
  • [Cites] Hum Genet. 2003 Aug;113(3):228-37 [12811540.001]
  • [Cites] Oncol Rep. 2003 Sep-Oct;10(5):1375-80 [12883710.001]
  • [Cites] Nat Rev Cancer. 2003 Oct;3(10):721-32 [13130303.001]
  • [Cites] Cancer Res. 2003 Sep 1;63(17):5615-21 [14500403.001]
  • [Cites] J Clin Endocrinol Metab. 2003 Oct;88(10):4932-7 [14557476.001]
  • [Cites] J Pathol. 2003 Nov;201(3):480-6 [14595761.001]
  • [Cites] Am J Hum Genet. 2004 Jan;74(1):153-9 [14685938.001]
  • [Cites] J Clin Endocrinol Metab. 2004 Jan;89(1):362-7 [14715873.001]
  • [Cites] Clin Endocrinol (Oxf). 2003 Dec;59(6):707-15 [14974911.001]
  • [Cites] Clin Endocrinol (Oxf). 2003 Dec;59(6):728-33 [14974914.001]
  • [Cites] J Med Genet. 2004 Mar;41(3):e30 [14985401.001]
  • [Cites] Clin Genet. 2004 Jan;65(1):61-3 [15032977.001]
  • [Cites] Cancer Genet Cytogenet. 2004 Apr 15;150(2):128-35 [15066320.001]
  • [Cites] Oncogene. 2004 May 20;23(23):4076-83 [15064708.001]
  • [Cites] J Clin Pathol. 2004 Jul;57(7):706-11 [15220362.001]
  • [Cites] J Med Genet. 2004 Jul;41(7):e99 [15235042.001]
  • [Cites] JAMA. 2004 Aug 25;292(8):943-51 [15328326.001]
  • [Cites] J Med Genet. 2004 Sep;41(9):703-9 [15342702.001]
  • [Cites] BMC Cancer. 2004 Aug 24;4:55 [15331017.001]
  • [Cites] J Urol. 2004 Oct;172(4 Pt 1):1409-10 [15371856.001]
  • [Cites] Clin Endocrinol (Oxf). 2004 Oct;61(4):510-4 [15473885.001]
  • [Cites] Eur J Endocrinol. 2004 Oct;151(4):433-8 [15476441.001]
  • [Cites] Clin Genet. 2004 Nov;66(5):461-6 [15479192.001]
  • [Cites] Cancer. 1974 Nov;34(5):1787-95 [4371947.001]
  • [Cites] Cancer. 1980 Nov 1;46(9):2116-22 [7000334.001]
  • [Cites] J Natl Cancer Inst. 1982 Apr;68(4):573-8 [6951072.001]
  • [Cites] J Clin Endocrinol Metab. 2005 Apr;90(4):2110-6 [15644401.001]
  • [Cites] Fam Cancer. 2005;4(1):49-54 [15883710.001]
  • [Cites] Diagn Mol Pathol. 2005 Jun;14(2):109-14 [15905695.001]
  • [Cites] J Clin Endocrinol Metab. 2005 Jun;90(6):3773-9 [15741255.001]
  • [Cites] J Intern Med. 2005 Jul;258(1):55-66 [15953133.001]
  • [Cites] Hum Mol Genet. 2005 Aug 1;14(15):2231-9 [15987702.001]
  • [Cites] J Med Genet. 2005 Aug;42(8):e48 [16061554.001]
  • [Cites] J Med Genet. 2005 Aug;42(8):e52 [16061558.001]
  • [Cites] Anticancer Res. 2005 May-Jun;25(3c):2449-52 [16080474.001]
  • [Cites] Anticancer Res. 2005 Jul-Aug;25(4):2809-14 [16080530.001]
  • [Cites] Cancer Cell. 2005 Aug;8(2):155-67 [16098468.001]
  • [Cites] Neurogenetics. 1999 Sep;2(3):167-70 [10541590.001]
  • [Cites] FEBS Lett. 2000 Jan 21;466(1):1-5 [10648801.001]
  • [Cites] Science. 2000 Feb 4;287(5454):848-51 [10657297.001]
  • [Cites] Am J Pathol. 2000 Feb;156(2):651-9 [10666394.001]
  • [Cites] J Clin Invest. 2000 Feb;105(4):401-7 [10683367.001]
  • [Cites] Am J Pathol. 2000 Aug;157(2):353-9 [10934139.001]
  • [Cites] Nat Genet. 2000 Nov;26(3):268-70 [11062460.001]
  • [Cites] Ann N Y Acad Sci. 2006 Aug;1073:156-65 [17102082.001]
  • [Cites] Ann N Y Acad Sci. 2006 Aug;1073:166-76 [17102083.001]
  • [Cites] Ann N Y Acad Sci. 2006 Aug;1073:183-9 [17102085.001]
  • [Cites] Ann N Y Acad Sci. 2006 Aug;1073:190-7 [17102086.001]
  • [Cites] Nat Clin Pract Endocrinol Metab. 2006 Dec;2(12):702-6; quiz following 706 [17143317.001]
  • [Cites] J Clin Endocrinol Metab. 2007 Mar;92(3):779-86 [17200167.001]
  • [Cites] Hong Kong Med J. 2007 Apr;13(2):151-4 [17406045.001]
  • [Cites] J Clin Endocrinol Metab. 2007 Apr;92(4):1245-8 [17227803.001]
  • [Cites] Endocrine. 2006 Dec;30(3):307-12 [17526943.001]
  • [Cites] Eur J Clin Invest. 2007 Jul;37(7):544-51 [17576205.001]
  • [Cites] J Clin Endocrinol Metab. 2007 Jul;92(7):2784-92 [17426081.001]
  • [Cites] Horm Res. 2007;68(2):68-71 [17308434.001]
  • [Cites] Endocr Relat Cancer. 2007 Jun;14(2):453-62 [17639058.001]
  • [Cites] N Engl J Med. 2007 Jul 19;357(3):306-8 [17634472.001]
  • [Cites] J Med Genet. 2007 Sep;44(9):586-7 [17557926.001]
  • [Cites] N Engl J Med. 2007 Sep 6;357(10):1054-6 [17804857.001]
  • [Cites] Head Neck. 2007 Sep;29(9):864-73 [17563904.001]
  • [Cites] Am J Surg Pathol. 2007 Oct;31(10):1578-85 [17895761.001]
  • [Cites] Nat Clin Pract Oncol. 2007 Oct;4(10):608-12 [17898811.001]
  • [Cites] J Clin Endocrinol Metab. 2007 Oct;92(10):3822-8 [17652212.001]
  • (PMID = 19522823.001).
  • [ISSN] 1365-2796
  • [Journal-full-title] Journal of internal medicine
  • [ISO-abbreviation] J. Intern. Med.
  • [Language] ENG
  • [Grant] United States / NICHD NIH HHS / HD / Z01 HD000642; United States / Intramural NIH HHS / / ZIA HD000642-13; United States / NICHD NIH HHS / HD / Z01-HD-000642-04
  • [Publication-type] Journal Article; Research Support, N.I.H., Extramural; Research Support, N.I.H., Intramural; Research Support, Non-U.S. Gov't; Review
  • [Publication-country] England
  • [Chemical-registry-number] EC 1.3.99.1 / Succinate Dehydrogenase
  • [Number-of-references] 157
  • [Other-IDs] NLM/ NIHMS305487; NLM/ PMC3163304
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