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1. Saito H, Yoshida T, Yamazaki H, Suzuki N: Conditional N-rasG12V expression promotes manifestations of neurofibromatosis in a mouse model. Oncogene; 2007 Jul 12;26(32):4714-9
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Conditional N-rasG12V expression promotes manifestations of neurofibromatosis in a mouse model.
  • Human clinical neurofibromatosis type 1 (NF1) and type 2 (NF2) result from mutations and inactivation of neurofibromin and merlin genes, respectively, which negatively regulate Ras pathways.
  • To evaluate the contribution of N-Ras activity to the development of NF, we generated a novel transgenic mouse expressing oncogenic N-ras specifically in central nerve cells, neural crest-derived cells and lens epithelial cells.
  • However, plexiform neurofibroma, schwannoma, astrocytoma and pheochromocytoma were not observed in the mice, suggesting a requirement for signal(s) other than the activated N-Ras pathway to induce these tumors.
  • Thus, the activated N-Ras signal may be a main pathway for the development of the disease phenotypes characteristic of NF.
  • [MeSH-major] Disease Models, Animal. Genes, ras. Mice / genetics. Neurofibromatosis 1 / genetics. Neurofibromatosis 2 / genetics
  • [MeSH-minor] Animals. Calcium-Calmodulin-Dependent Protein Kinase Type 2. Calcium-Calmodulin-Dependent Protein Kinases / genetics. Cataract / genetics. Cataract / pathology. Integrases / metabolism. Mice, Inbred Strains. Mice, Transgenic. Promoter Regions, Genetic

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  • (PMID = 17237809.001).
  • [ISSN] 0950-9232
  • [Journal-full-title] Oncogene
  • [ISO-abbreviation] Oncogene
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] England
  • [Chemical-registry-number] EC 2.7.11.17 / Calcium-Calmodulin-Dependent Protein Kinase Type 2; EC 2.7.11.17 / Calcium-Calmodulin-Dependent Protein Kinases; EC 2.7.7.- / Cre recombinase; EC 2.7.7.- / Integrases
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2. Fahey PF, Stagner BB, Martin GK: Mechanism for bandpass frequency characteristic in distortion product otoacoustic emission generation. J Acoust Soc Am; 2006 Feb;119(2):991-6
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  • It is commonly observed that the levels of the 2f1-f2 and the other mf1-nf2 (m = n + 1 = integer) distortion product otoacoustic emissions (DPOAEs) initially increase in level for fixed f2 as fl -->f2, starting at f1 <f2, and then begin to decrease.

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  • (PMID = 16521760.001).
  • [ISSN] 0001-4966
  • [Journal-full-title] The Journal of the Acoustical Society of America
  • [ISO-abbreviation] J. Acoust. Soc. Am.
  • [Language] ENG
  • [Grant] United States / NIDCD NIH HHS / DC / R01 DC000613; United States / NIDCD NIH HHS / DC / DC000613; United States / NIDCD NIH HHS / DC / DC003114
  • [Publication-type] Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, Non-P.H.S.
  • [Publication-country] United States
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3. Kwaśnicka-Crawford DA, Carson AR, Scherer SW: IQCJ-SCHIP1, a novel fusion transcript encoding a calmodulin-binding IQ motif protein. Biochem Biophys Res Commun; 2006 Dec 1;350(4):890-9
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  • IQCJ-SCHIP1 is the longest isoform of a complex transcriptional unit that bridges two separate genes that encode distinct proteins, IQCJ, a novel IQ motif containing protein and SCHIP1, a schwannomin interacting protein that has been previously shown to interact with the Neurofibromatosis type 2 (NF2) protein.

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  • (PMID = 17045569.001).
  • [ISSN] 0006-291X
  • [Journal-full-title] Biochemical and biophysical research communications
  • [ISO-abbreviation] Biochem. Biophys. Res. Commun.
  • [Language] eng
  • [Publication-type] Journal Article; Research Support, Non-U.S. Gov't
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / Calmodulin-Binding Proteins; 0 / IQCJ-SCHIP1 fusion protein, human; 0 / Recombinant Fusion Proteins; 0 / Transcription Factors
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4. Rajaram V, Gutmann DH, Prasad SK, Mansur DB, Perry A: Alterations of protein 4.1 family members in ependymomas: a study of 84 cases. Mod Pathol; 2005 Jul;18(7):991-7
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  • The most common genetic alteration has been the loss of the Protein 4.1 family member, NF2, predominantly in spinal ependymomas.
  • These findings prompted us to study Protein 4.1 family members (NF2, 4.1B, 4.1R, 4.1G) in a larger cohort of 84 ependymomas (51 intracranial and 33 spinal; 11 WHO grade I, 43 grade II, 30 grade III).
  • Fluorescence in situ hybridization was performed using NF2, 4.1B, 4.1R and 4.1G probes and immunohistochemical staining was performed in a subset using merlin, Protein 4.1B and Protein 4.1R antibodies.
  • The majority of cases harbored one or more detectable genetic alterations, but we found that 4.1B gene deletions and 4.1R loss of expression were statistically more common in the pediatric vs adult, intracranial vs spinal, and grade III vs grade I/II subsets (P-values of 0.038 to <0.001).
  • Also, 4.1G deletions were seen in 11/27 (41%) patients who either died of disease or had residual/recurrent tumor vs 5/41 patients with no evidence of disease at last follow-up (P=0.009).

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  • (PMID = 15731777.001).
  • [ISSN] 0893-3952
  • [Journal-full-title] Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc
  • [ISO-abbreviation] Mod. Pathol.
  • [Language] eng
  • [Publication-type] Comparative Study; Journal Article
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / Blood Proteins; 0 / Cytoskeletal Proteins; 0 / EPB41L3 protein, human; 0 / Membrane Proteins; 0 / Microfilament Proteins; 0 / Microtubule-Associated Proteins; 0 / Neurofibromin 2; 0 / Tumor Suppressor Proteins; 0 / erythrocyte membrane band 4.1 protein
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5. Díaz de Ståhl T, Hansson CM, de Bustos C, Mantripragada KK, Piotrowski A, Benetkiewicz M, Jarbo C, Wiklund L, Mathiesen T, Nyberg G, Collins VP, Evans DG, Ichimura K, Dumanski JP: High-resolution array-CGH profiling of germline and tumor-specific copy number alterations on chromosome 22 in patients affected with schwannomas. Hum Genet; 2005 Oct;118(1):35-44
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  • Schwannomas may develop sporadically or in association with NF2 and schwannomatosis.
  • The fundamental aberration in schwannomas is the bi-allelic inactivation of the NF2 gene.
  • Linkage studies in schwannomatosis, a condition related to NF2, have defined a candidate 22q-locus and excluded the NF2 gene as the causative germline mutation.
  • Thus, analysis of aberrations in schwannomas may lead to the identification of putative gene(s) involved in the development of schwannoma/schwannomatosis.
  • In addition, three tumors displayed terminal deletions and four harbored overlapping interstitial deletions of various sizes encompassing the NF2 gene.
  • [MeSH-minor] Female. Genes, Neurofibromatosis 2. Humans. Male

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  • (PMID = 16078050.001).
  • [ISSN] 0340-6717
  • [Journal-full-title] Human genetics
  • [ISO-abbreviation] Hum. Genet.
  • [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] Germany
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6. Jacob A, Lee TX, Neff BA, Miller S, Welling B, Chang LS: Phosphatidylinositol 3-kinase/AKT pathway activation in human vestibular schwannoma. Otol Neurotol; 2008 Jan;29(1):58-68
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  • [Title] Phosphatidylinositol 3-kinase/AKT pathway activation in human vestibular schwannoma.
  • HYPOTHESIS: The neurofibromatosis 2 gene, which encodes the tumor suppressor protein merlin, is frequently mutated in vestibular schwannomas (VS).
  • BACKGROUND: Despite advances in diagnosis and treatment, VS continue to cause patient morbidity.
  • METHODS: Complementary deoxyribonucleic acid microarrays were performed using cultured Schwann cells, 4 VS specimens, and 2 paired normal vestibular nerves.
  • RESULTS: Microarray analysis demonstrated that total AKT gene expression was upregulated in VS, compared with normal vestibular nerves.
  • Western blots comparing VS specimens with normal vestibular nerves showed that the AKT pathway was activated in VS but not in normal nerve.
  • [MeSH-major] Neuroma, Acoustic / genetics. Oncogene Protein v-akt / genetics. Peripheral Nervous System Neoplasms / genetics. Phosphatidylinositol 3-Kinases / genetics. Signal Transduction / physiology

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  • (PMID = 18199958.001).
  • [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
  • [Chemical-registry-number] 0 / DNA, Neoplasm; 0 / Tubulin; 1F7A44V6OU / Colforsin; EC 2.7.1.- / Phosphatidylinositol 3-Kinases; EC 2.7.11.1 / Oncogene Protein v-akt
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7. Sadler KC, Amsterdam A, Soroka C, Boyer J, Hopkins N: A genetic screen in zebrafish identifies the mutants vps18, nf2 and foie gras as models of liver disease. Development; 2005 Aug;132(15):3561-72
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  • [Title] A genetic screen in zebrafish identifies the mutants vps18, nf2 and foie gras as models of liver disease.
  • A second mutant, resulting from disruption of the tumor suppressor gene nf2, develops extrahepatic choledochal cysts in the common bile duct, suggesting that this gene regulates division of biliary cells during development and that nf2 may play a role in the hyperplastic tendencies observed in biliary cells in individuals with choledochal cysts.
  • The third mutant is in the novel gene foie gras, which develops large, lipid-filled hepatocytes, resembling those in individuals with fatty liver disease.
  • These mutants illustrate the utility of zebrafish as a model for studying liver development and disease, and provide valuable tools for investigating the molecular pathogenesis of congenital biliary disorders and fatty liver disease.

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  • (PMID = 16000385.001).
  • [ISSN] 0950-1991
  • [Journal-full-title] Development (Cambridge, England)
  • [ISO-abbreviation] Development
  • [Language] ENG
  • [Grant] United States / NICHD NIH HHS / HD / F32 HD042920; United States / NICHD NIH HHS / HD / 1R32HD042920-01
  • [Publication-type] Journal Article; Research Support, N.I.H., Extramural; Research Support, U.S. Gov't, P.H.S.
  • [Publication-country] England
  • [Chemical-registry-number] 0 / DNA Primers; 0 / Neurofibromin 2; 0 / Zebrafish Proteins; 0 / foie gras protein, zebrafish; EC 6.3.2.19 / Ubiquitin-Protein Ligases; EC 6.3.2.19 / Vps18 protein, zebrafish
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8. Cordeiro NJ, Gardner KR, Huson SM, Stewart H, Elston JS, Howard EL, Tullus KO, Pike MG: Renal vascular disease in neurofibromatosis type 2: association or coincidence? Dev Med Child Neurol; 2006 Jan;48(1):58-9
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  • [Title] Renal vascular disease in neurofibromatosis type 2: association or coincidence?
  • Neurofibromatosis type 2 (NF2) remains a challenging diagnosis in childhood where there may be no neurological involvement.
  • A 12-month-old male in whom NF2 was suspected because of characteristic ophthalmological and cutaneous lesions is reported.
  • A pathogenic mutation was identified on NF2 gene analysis.
  • The child developed hypertension due to renal vascular disease.
  • Although renal vascular disease is a recognized complication of neurofibromatosis type 1 (NF1), it has not been reported in NF2.
  • [MeSH-major] Hypertension, Renovascular / complications. Neurofibromatosis 2 / complications
  • [MeSH-minor] Blood Pressure. Genes, Neurofibromatosis 2. Humans. Infant. Male. Mutation

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  • (PMID = 16359595.001).
  • [ISSN] 0012-1622
  • [Journal-full-title] Developmental medicine and child neurology
  • [ISO-abbreviation] Dev Med Child Neurol
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] England
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9. Neary WJ, Hillier VF, Flute T, Stephens D, Ramsden RT, Evans DG: Use of a closed set questionnaire to measure primary and secondary effects of neurofibromatosis type 2. J Laryngol Otol; 2010 Jul;124(7):720-8
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Use of a closed set questionnaire to measure primary and secondary effects of neurofibromatosis type 2.
  • OBJECTIVES: To identify the greatest difficulties reported by people affected by neurofibromatosis type 2, and to determine the relationship between the primary and secondary effects of the disease.
  • PARTICIPANTS: Eighty-seven adult patients under the care of the Manchester multidisciplinary neurofibromatosis type 2 team were invited to take part.
  • CONCLUSIONS: The use of a closed set neurofibromatosis type 2 questionnaire identified hearing problems and subsequent communication difficulties as the main problems faced by people with this condition.
  • [MeSH-major] Hearing Disorders / psychology. Muscle Weakness / etiology. Neurofibromatosis 2 / complications. Surveys and Questionnaires


10. Perry A, Kurtkaya-Yapicier O, Scheithauer BW, Robinson S, Prayson RA, Kleinschmidt-DeMasters BK, Stemmer-Rachamimov AO, Gutmann DH: Insights into meningioangiomatosis with and without meningioma: a clinicopathologic and genetic series of 24 cases with review of the literature. Brain Pathol; 2005 Jan;15(1):55-65
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • In the current study, we examined 24 cases (14 pure MA, 10 MA-M) using immunohistochemistry for merlin, protein 4.1 B, progesterone receptor (PR), and MIB-1, as well as FISH for NF2 and 4.1B gene dosages.
  • Nine cases of MA-M (90%) had gene deletions (NF2/4.7B), protein losses (merlin/protein 4.1B), and/or PR positivity, with a similar or identical phenotype in both components.
  • [MeSH-minor] Adolescent. Adult. Aged. Child. Child, Preschool. Diagnosis, Differential. Gene Deletion. Humans. Immunohistochemistry. In Situ Hybridization, Fluorescence. Infant. Male. Membrane Proteins / metabolism. Middle Aged. Neurofibromin 2 / metabolism. Prognosis. Receptors, Progesterone / metabolism

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  • (PMID = 15779237.001).
  • [ISSN] 1015-6305
  • [Journal-full-title] Brain pathology (Zurich, Switzerland)
  • [ISO-abbreviation] Brain Pathol.
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] Switzerland
  • [Chemical-registry-number] 0 / Membrane Proteins; 0 / Neurofibromin 2; 0 / Receptors, Progesterone; 0 / protein 4.1B, human
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11. Neary WJ, Hillier VF, Flute T, Stephens SD, Ramsden RT, Evans DG: The relationship between patients' perception of the effects of neurofibromatosis type 2 and the domains of the Short Form-36. Clin Otolaryngol; 2010 Aug;35(4):291-9
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] The relationship between patients' perception of the effects of neurofibromatosis type 2 and the domains of the Short Form-36.
  • OBJECTIVES: To investigate the relationship between those issues concerning quality of life in patients with neurofibromatosis type 2 (NF2) as identified by the closed set NF2 questionnaire and the eight norm-based measures and the physical component summary (PCS) and mental component summary (MCS) scores of the Short Form-36 (SF-36) Questionnaire.
  • PARTICIPANTS: Eighty-seven adult subjects under the care of the Manchester Multidisciplinary NF2 Clinic were invited to participate.
  • MAIN OUTCOME MEASURES: Sixty-two (71%) completed sets of closed set NF2 questionnaires and SF-36 questionnaires were returned.
  • RESULTS: Subjects with NF2 scored less than the norm of 50 on both the physical component summary and mental component summary scores and the eight individual norm-based measures of the Short Form-36 questionnaire.
  • CONCLUSIONS: The Short Form-36 questionnaire has allowed us to relate patients' perceptions of their difficulties, as identified by the closed set NF2 questionnaire, to the physical and mental domains measured by this validated and widely used scale, and has provided further insight into areas of functioning affected by NF2.
  • [MeSH-major] Mental Health. Neurofibromatosis 2 / psychology. Perception / physiology. Quality of Life / psychology. Surveys and Questionnaires / standards

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  • (PMID = 20738338.001).
  • [ISSN] 1749-4486
  • [Journal-full-title] Clinical otolaryngology : official journal of ENT-UK ; official journal of Netherlands Society for Oto-Rhino-Laryngology & Cervico-Facial Surgery
  • [ISO-abbreviation] Clin Otolaryngol
  • [Language] eng
  • [Publication-type] Comparative Study; Journal Article
  • [Publication-country] England
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12. Plotkin SR, Halpin C, McKenna MJ, Loeffler JS, Batchelor TT, Barker FG 2nd: Erlotinib for progressive vestibular schwannoma in neurofibromatosis 2 patients. Otol Neurotol; 2010 Sep;31(7):1135-43
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Erlotinib for progressive vestibular schwannoma in neurofibromatosis 2 patients.
  • OBJECTIVE: In vitro treatment of Nf2-deficient cells with epidermal growth factor receptor (EGFR) inhibitors can reduce cellular proliferation.
  • We sought to determine the activity of erlotinib for progressive vestibular schwannoma (VS) associated with neurofibromatosis 2 (NF2).
  • PATIENTS: Eleven NF2 patients with progressive VS who were poor candidates for standard therapy.
  • Three patients with stable disease experienced maximum tumor shrinkage of 4%, 13%, and 14%.
  • CONCLUSION: Erlotinib treatment was not associated with radiographic or hearing responses in NF2 patients with progressive vs. Because a subset of patients experienced prolonged stable disease, time-to-progression may be more appropriate than radiographic or hearing response for anti-EGFR agents in NF2-associated vs.
  • [MeSH-major] Antineoplastic Agents / therapeutic use. Neurofibromatosis 2 / drug therapy. Neuroma, Acoustic / drug therapy. Quinazolines / therapeutic use
  • [MeSH-minor] Adolescent. Adult. Audiometry, Pure-Tone. Disease Progression. Erlotinib Hydrochloride. Female. Hearing Loss, Sensorineural / complications. Humans. Magnetic Resonance Imaging. Male. Middle Aged. Speech Perception / physiology. Treatment Outcome. Young Adult

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  • (PMID = 20736812.001).
  • [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 / NINDS NIH HHS / NS / P01 NS024279; United States / NINDS NIH HHS / NS / P01 NS024279-23; United States / NIDCD NIH HHS / DC / R01 DC009837
  • [Publication-type] Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, Non-P.H.S.
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / Antineoplastic Agents; 0 / Quinazolines; DA87705X9K / Erlotinib Hydrochloride
  • [Other-IDs] NLM/ NIHMS570073; NLM/ PMC4030413
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13. 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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14. Safavi-Abbasi S, Bambakidis NC, Zabramski JM, Workman R, Verma K, Senoglu M, Porter RW, Spetzler RF: Nonvestibular schwannomas: an evaluation of functional outcome after radiosurgical and microsurgical management. Acta Neurochir (Wien); 2010 Jan;152(1):35-46
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  • Patients diagnosed with neurofibromatosis type 2 were excluded.
  • In these two groups, the mean tumor volume was significantly higher in those who received combined therapy (8.59 +/- 2.29 cc), compared with radiosurgery (4.94 +/- 3.02 cc; p = 0.05) or microsurgery alone (5.38 +/- 3.23; p = 0.027).

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  • (PMID = 19499174.001).
  • [ISSN] 0942-0940
  • [Journal-full-title] Acta neurochirurgica
  • [ISO-abbreviation] Acta Neurochir (Wien)
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] Austria
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15. Clark JJ, Provenzano M, Diggelmann HR, Xu N, Hansen SS, Hansen MR: The ErbB inhibitors trastuzumab and erlotinib inhibit growth of vestibular schwannoma xenografts in nude mice: a preliminary study. Otol Neurotol; 2008 Sep;29(6):846-53
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  • [Title] The ErbB inhibitors trastuzumab and erlotinib inhibit growth of vestibular schwannoma xenografts in nude mice: a preliminary study.
  • OBJECTIVE: To analyze the ability of ErbB inhibitors to reduce the growth of vestibular schwannoma (VS) xenografts.
  • METHODS: Vestibular schwannoma xenografts were established in the interscapular fat pad in nude mice for 4 weeks.
  • CONCLUSION: In this preliminary study, the ErbB inhibitors trastuzumab and erlotinib decreased growth of VS xenografts in nude mice, raising the possibility of using ErbB inhibitors in the management of patients with schwannomas, particularly those with neurofibromatosis Type 2.

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  • (PMID = 18636037.001).
  • [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 / NIDCD NIH HHS / DC / K08 DC006211; United States / NIDCD NIH HHS / DC / K08 DC006211-01A1; United States / NIDCD NIH HHS / DC / KO8 DC006211
  • [Publication-type] Journal Article; Research Support, N.I.H., Extramural
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / Antibodies, Monoclonal; 0 / Antibodies, Monoclonal, Humanized; 0 / Protein Kinase Inhibitors; 0 / Quinazolines; DA87705X9K / Erlotinib Hydrochloride; P188ANX8CK / Trastuzumab
  • [Other-IDs] NLM/ NIHMS85822; NLM/ PMC2652856
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16. Toh EH, Luxford WM: Cochlear and brainstem implantation. 2002. Neurosurg Clin N Am; 2008 Apr;19(2):317-29, vii
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  • Brainstem implant technology is currently approved for use in patients with type 2 Neurofibromatosis, who have lost integrity of auditory nerves following vestibular schwannoma removal.

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  • (PMID = 18534342.001).
  • [ISSN] 1558-1349
  • [Journal-full-title] Neurosurgery clinics of North America
  • [ISO-abbreviation] Neurosurg. Clin. N. Am.
  • [Language] eng
  • [Publication-type] Biography; Classical Article; Historical Article; Journal Article
  • [Publication-country] United States
  • [Personal-name-as-subject] Toh EH; Luxford WM
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17. Ammoun S, Flaiz C, Ristic N, Schuldt J, Hanemann CO: Dissecting and targeting the growth factor-dependent and growth factor-independent extracellular signal-regulated kinase pathway in human schwannoma. Cancer Res; 2008 Jul 1;68(13):5236-45
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  • [Title] Dissecting and targeting the growth factor-dependent and growth factor-independent extracellular signal-regulated kinase pathway in human schwannoma.
  • Schwannomas are tumors of the nervous system that occur sporadically and in patients with the cancer predisposition syndrome neurofibromatosis type 2 (NF2).
  • Schwannomas and all NF2-related tumors are caused by loss of the tumor suppressor merlin.
  • Using our human in vitro model for schwannoma, we analyzed extracellular signal-regulated kinase 1/2 (ERK1/2) and AKT signaling pathways, their upstream growth factor receptors, and their role in schwannoma cell proliferation and adhesion to find new systemic therapies for these tumors that, to date, are very difficult to treat.
  • We show here that human primary schwannoma cells show an enhanced basal Raf/mitogen-activated protein/ERK kinase/ERK1/2 pathway activity compared with healthy Schwann cells.
  • Due to a strong and prolonged activation of platelet-derived growth factor receptor beta (PDGFRbeta), which is highly overexpressed, ERK1/2 and AKT activation was further increased in schwannoma, leading to increased proliferation.
  • Due to the complexity of signals leading to schwannoma cell proliferation, potential new therapeutic agents should target several signaling pathways.
  • The PDGFR and c-Raf inhibitor sorafenib (BAY 43-9006; Bayer Pharmaceuticals), currently approved for treatment of advanced renal cell cancer, inhibits both basal and PDGFRbeta-mediated ERK1/2 and AKT activity and decreases cell proliferation in human schwannoma cells, suggesting that this drug constitutes a promising tool to treat schwannomas.
  • We conclude that our schwannoma in vitro model can be used to screen for new therapeutic targets in general and that sorafenib is possible candidate for future clinical trials.
  • [MeSH-minor] Cells, Cultured. Enzyme Activation / drug effects. Focal Adhesion Kinase 1 / genetics. Focal Adhesion Kinase 1 / metabolism. Gene Expression Regulation, Neoplastic. Humans. Lymphokines / pharmacology. MAP Kinase Kinase 1 / metabolism. MAP Kinase Kinase 2 / metabolism. Mitogen-Activated Protein Kinase 1 / metabolism. Mitogen-Activated Protein Kinase 3 / metabolism. Models, Biological. Neurofibromatosis 2 / complications. Oncogene Protein v-akt / metabolism. Platelet-Derived Growth Factor / pharmacology. Receptor, Platelet-Derived Growth Factor beta / genetics. Receptor, Platelet-Derived Growth Factor beta / metabolism


18. Halefoğlu AM: Neurofibromatosis type 2 associated with multiple cranial nerve schwannomas: a case report. Kulak Burun Bogaz Ihtis Derg; 2007;17(3):171-5
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  • [Title] Neurofibromatosis type 2 associated with multiple cranial nerve schwannomas: a case report.
  • He also had a family history of neurofibromatosis type 2 and a history of a prior operation for left vestibular schwannoma a year ago.
  • Magnetic resonance imaging demonstrated multiple extra-axial enhancing masses in the vicinity of both hypoglossal nerves, the right vestibular nerve, the left vestibular nerve, the right trigeminal, the left occulomotor, and the right abducens nerves.
  • The case was considered a rare manifestation of neurofibromatosis type 2 without any concomitant abnormality in the central nervous system.
  • [MeSH-major] Cochlear Nerve. Cranial Nerve Neoplasms / diagnosis. Neurilemmoma / diagnosis. Neurofibromatosis 2 / diagnosis
  • [MeSH-minor] Adolescent. Deafness / etiology. Diagnosis, Differential. Humans. Magnetic Resonance Imaging. Male. Tinnitus / etiology

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  • (PMID = 17873509.001).
  • [ISSN] 1300-7475
  • [Journal-full-title] Kulak burun boğaz ihtisas dergisi : KBB = Journal of ear, nose, and throat
  • [ISO-abbreviation] Kulak Burun Bogaz Ihtis Derg
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] Turkey
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19. Dohi O, Hatori M, Ichinohasama R, Hosaka M, Hashimoto S, Kokubun S: Diffuse large B-cell lymphoma arising in a patient with neurofibromatosis type I and in a patient with neurofibromatosis type II. Tohoku J Exp Med; 2006 Feb;208(2):169-76
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  • [Title] Diffuse large B-cell lymphoma arising in a patient with neurofibromatosis type I and in a patient with neurofibromatosis type II.
  • We experienced two unusual cases of diffuse large B-cell lymphoma (DLBCL), which occurred in a patient with neurofibromatosis type I and a patient with neurofibromatosis type II.
  • Neurofibromatosis I is characterized by café-au-lait spots and neurofibromas.
  • Neurofibromatosis II typically consists of bilateral schwannomas of the acoustic nerve.
  • Malignant lymphomas rarely coexist with neurofibromatosis I, and no coexistence with neurofibromatosis II has been reported.
  • The patient with neurofibromatosis I was a 50-year-old Japanese woman, clinically manifesting von Recklinghausen's disease since infancy, who noticed an egg-sized tumor in her shoulder.
  • The patient with neurofibromatosis II was a 39-year-old Japanese man who noticed multiple soft tissue tumors in his neck, buttock, and elbow.
  • The patient with neurofibromatosis I was alive without recurrence at 4 years after treatment, while the patient with neurofibromatosis II died of recurrence.
  • To the best of our knowledge, this is the first case of malignant lymphoma arising in a neurofibromatosis II patient.
  • As for neurofibromatosis I, there were some reports about occurrence of malignant lymphoma.
  • It is important to be aware of possibility of association of malignant tumors not only of the nervous system but also of unrelated to the nervous system when tumors appear in neurofibromatosis patients.
  • [MeSH-major] Lymphoma, B-Cell / complications. Lymphoma, Large B-Cell, Diffuse / complications. Neurofibromatosis 1 / complications. Neurofibromatosis 2 / complications. Skin Neoplasms / complications. Soft Tissue Neoplasms / complications

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  • (PMID = 16434841.001).
  • [ISSN] 0040-8727
  • [Journal-full-title] The Tohoku journal of experimental medicine
  • [ISO-abbreviation] Tohoku J. Exp. Med.
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] Japan
  • [Chemical-registry-number] 0 / Biomarkers, Tumor
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20. McCreery D, Han M, Pikov V: Neuronal activity evoked in the inferior colliculus of the cat by surface macroelectrodes and penetrating microelectrodes implanted in the cochlear nucleus. IEEE Trans Biomed Eng; 2010 Jul;57(7):1765-73
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  • The findings are consistent with those from patients with type II neurofibromatosis who received ABIs with both surface and microelectrodes.
  • [MeSH-minor] Animals. Cats. Electrodes, Implanted. Humans. Neurofibromatosis 2. Reproducibility of Results

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  • (PMID = 20483692.001).
  • [ISSN] 1558-2531
  • [Journal-full-title] IEEE transactions on bio-medical engineering
  • [ISO-abbreviation] IEEE Trans Biomed Eng
  • [Language] eng
  • [Grant] United States / NINDS NIH HHS / NS / R01 NS054121; United States / NIDCD NIH HHS / DC / N01-DC-4-0005; United States / NIDCD NIH HHS / DC / 1R01DC009643-01; United States / NIDCD NIH HHS / DC / R01 DC009643; United States / NINDS NIH HHS / NS / R01 NS057287
  • [Publication-type] Journal Article; Research Support, N.I.H., Extramural
  • [Publication-country] United States
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21. Jagannathan J, Oskouian RJ, Yeoh HK, Saulle D, Dumont AS: Molecular biology of unreresectable meningiomas: implications for new treatments and review of the literature. Skull Base; 2008 May;18(3):173-87
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  • Genetic factors such as mutations in the neurofibromatosis-2 gene and in chromosomes 1, 9, and 10 play important roles in meningioma development and may be responsible for atypical tumors in some cases.

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  • (PMID = 18978964.001).
  • [ISSN] 1531-5010
  • [Journal-full-title] Skull base : official journal of North American Skull Base Society ... [et al.]
  • [ISO-abbreviation] Skull Base
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] United States
  • [Other-IDs] NLM/ PMC2459329
  • [Keywords] NOTNLM ; Aggressive / atypical / biology / meningioma / treatment
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22. Sestini R, Putignano AL, Ammannati F, Papi L: Detection of rearrangements in the NF2 gene using semi-quantitative multiplex fluorescent PCR. Genet Test; 2005;9(1):14-9
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Detection of rearrangements in the NF2 gene using semi-quantitative multiplex fluorescent PCR.
  • Neurofibromatosis type 2 (NF2) is an autosomal dominant disorder that predisposes to the development of bilateral vestibular schwannomas (sometimes associated with schwannomas at other locations), meningiomas, and ependymomas.
  • Point mutations that inactivate the NF2 tumor suppressor gene, located in 22q12, have been found in 45-85% of NF2 patients; in addition, large genomic deletions can be found.
  • To evaluate the presence of genomic NF2 rearrangements, we have developed a fluorescent semiquantitative multiplex PCR method.
  • Briefly, short fragments corresponding to the 17 exons, the promoter region, and the 3' end of the NF2 gene were co-amplified by PCR using dye primers.
  • The fluorescent multiplex PCR method was then used to analyze 21 NF2 individuals in which single-strand conformational polymorphism (SSCP) analysis and/or direct sequencing had revealed no NF2 point mutations; we were able to detect two deletions and one duplication in NF2 in 3 patients.
  • In conclusion, the method we developed could easily be applied in detecting NF2 deletions and duplications.
  • Discovering genomic duplications is invaluable because they are probably the most difficult molecular alterations to detect with conventional methods and, as a consequence, might be an underestimated cause of NF2.
  • [MeSH-major] Gene Rearrangement. Genes, Neurofibromatosis 2. Polymerase Chain Reaction / methods

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  • (PMID = 15857181.001).
  • [ISSN] 1090-6576
  • [Journal-full-title] Genetic testing
  • [ISO-abbreviation] Genet. Test.
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / DNA Primers
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23. Landert M, Baumert BG, Bosch MM, Lütolf UM, Landau K: The visual impact of fractionated stereotactic conformal radiotherapy on seven eyes with optic nerve sheath meningiomas. J Neuroophthalmol; 2005 Jun;25(2):86-91
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  • Patients with secondary ONSMs and those with neurofibromatosis type 2 were excluded.

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  • (PMID = 15937428.001).
  • [ISSN] 1070-8022
  • [Journal-full-title] Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology Society
  • [ISO-abbreviation] J Neuroophthalmol
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] United States
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24. Okada M, Wang Y, Jang SW, Tang X, Neri LM, Ye K: Akt phosphorylation of merlin enhances its binding to phosphatidylinositols and inhibits the tumor-suppressive activities of merlin. Cancer Res; 2009 May 1;69(9):4043-51
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  • The NF2 tumor suppressor gene encodes an intracellular membrane-associated protein, called merlin, which belongs to the band 4.1 family of cytoskeleton-associated proteins that link cell surface glycoproteins to the actin cytoskeleton.

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  • (PMID = 19351837.001).
  • [ISSN] 1538-7445
  • [Journal-full-title] Cancer research
  • [ISO-abbreviation] Cancer Res.
  • [Language] ENG
  • [Grant] United States / NCI NIH HHS / CA / CA117872-04; United States / NCI NIH HHS / CA / R01 CA117872; United States / NCI NIH HHS / CA / R01 CA117872-04
  • [Publication-type] Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, Non-P.H.S.
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / Antigens, CD44; 0 / CD44 protein, human; 0 / Liposomes; 0 / Neurofibromin 2; 0 / Phosphatidylinositols; EC 2.7.11.1 / Proto-Oncogene Proteins c-akt
  • [Other-IDs] NLM/ NIHMS167932; NLM/ PMC2810124
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25. Dereure O: [Molecular characterisation of SMARCB1 and NF2 in familial and sporadic schwannomatosis: an evolving paradigm]. Ann Dermatol Venereol; 2008 Dec;135(12):888-9
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [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.
  • [MeSH-major] Chromosomal Proteins, Non-Histone. DNA-Binding Proteins. Neurilemmoma / genetics. Neurofibromatosis 2 / genetics. Transcription Factors
  • [MeSH-minor] Animals. Chromosomes, Human, Pair 22 / genetics. Disease Models, Animal. Humans. Mice. Mutation

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  • (PMID = 19084709.001).
  • [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 / SMARCB1 protein, human; 0 / Transcription Factors
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26. Bosch MM, Mironov A, Killer HE: Atypical manifestation of neurofibromatosis type 2 in a boy. Eye (Lond); 2005 Jun;19(6):705-6
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Atypical manifestation of neurofibromatosis type 2 in a boy.
  • [MeSH-major] Cataract / diagnosis. Cranial Nerve Neoplasms / diagnosis. Neurilemmoma / diagnosis. Neurofibromatosis 2 / diagnosis. Trigeminal Nerve Diseases / diagnosis
  • [MeSH-minor] Child. Codon, Nonsense. Genes, Neurofibromatosis 2. Humans. Male


27. Kazakov DV, Pitha J, Sima R, Vanecek T, Shelekhova K, Mukensnabl P, Michal M: Hybrid peripheral nerve sheath tumors: Schwannoma-perineurioma and neurofibroma-perineurioma. A report of three cases in extradigital locations. Ann Diagn Pathol; 2005 Feb;9(1):16-23
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Hybrid peripheral nerve sheath tumors: Schwannoma-perineurioma and neurofibroma-perineurioma. A report of three cases in extradigital locations.
  • We present three cases of subcutaneous tumors with hybrid features of schwannoma-perineurioma (one case) and neurofibroma-perineurioma (two cases), which occurred in two women aged 50 and 52 years and one man aged 52.
  • None of the patients had signs of neurofibromatosis.
  • All tumors were surgically removed, and patients remained disease-free for 1 to 4 years.
  • The classification of the lesion into schwannoma-perineurioma and neurofibroma-perineurioma rested on histopathological and immunohistochemical findings.
  • All cases were studied for mutation of the NF2 gene, and in one case (neurofibroma-perineurioma) a point mutation was detected in exon 15 of the gene.
  • [MeSH-minor] Base Sequence. Biomarkers, Tumor / analysis. DNA Mutational Analysis. DNA, Neoplasm / analysis. Disease-Free Survival. Female. Humans. Immunoenzyme Techniques. Male. Middle Aged. Molecular Sequence Data. Neurilemmoma / chemistry. Neurilemmoma / pathology. Neurilemmoma / surgery. Neurofibroma / chemistry. Neurofibroma / pathology. Neurofibroma / surgery. Point Mutation

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  • (PMID = 15692946.001).
  • [ISSN] 1092-9134
  • [Journal-full-title] Annals of diagnostic pathology
  • [ISO-abbreviation] Ann Diagn Pathol
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / Biomarkers, Tumor; 0 / DNA, Neoplasm
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28. Seki Y: [Restoration of hearing--comparing auditory brainstem implant to cochlear implant]. Brain Nerve; 2007 Apr;59(4):323-9
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • CI restores hearing by stimulating the cochlear nerve in the cochlea for patients whose deafness has been caused by inner ear disease; ABI does it by stimulating the cochlear nucleus of the brainstem for those deaf due to bilateral cochlear nerve dysfunction.
  • In the world, up until now, more than 700 patients, almost all of whom are neurofibromatosis type 2, have undergone ABI and had hearing restored.

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  • (PMID = 17447518.001).
  • [ISSN] 1881-6096
  • [Journal-full-title] Brain and nerve = Shinkei kenkyū no shinpo
  • [ISO-abbreviation] Brain Nerve
  • [Language] jpn
  • [Publication-type] Comparative Study; English Abstract; Journal Article; Review
  • [Publication-country] Japan
  • [Number-of-references] 30
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29. Buccoliero AM, Gheri CF, Castiglione F, Ammannati F, Gallina P, Taddei A, Garbini F, Rossi Degl'Innocenti D, Arganini L, Di Lorenzo N, Mennonna P, Taddei GL: Merlin expression in secretory meningiomas: evidence of an NF2-independent pathogenesis? Immunohistochemical study. Appl Immunohistochem Mol Morphol; 2007 Sep;15(3):353-7
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Merlin expression in secretory meningiomas: evidence of an NF2-independent pathogenesis? Immunohistochemical study.
  • One of the most common chromosomal regions implicated in the meningiomas tumorigenesis is 22q12 where the neurofibromatosis 2 (NF2) gene resides.
  • The NF2 tumor-suppressor gene encodes for the merlin/schwannomin protein, which is responsible for the inherited disease neurofibromatosis 2.
  • NF2 gene mutations predominantly occur in transitional and fibroblastic meningiomas, whereas the meningothelial variant is less affected.
  • Our results may indicate a molecular, besides morphologic, similarity between secretory and meningothelial meningiomas: the almost constant merlin immunohistochemical expression in our series gives evidence for a possible NF2 gene-independent pathogenesis in secretory meningiomas.

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  • (PMID = 17721284.001).
  • [ISSN] 1541-2016
  • [Journal-full-title] Applied immunohistochemistry & molecular morphology : AIMM
  • [ISO-abbreviation] Appl. Immunohistochem. Mol. Morphol.
  • [Language] ENG
  • [Publication-type] Case Reports; Journal Article; Review
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / Neurofibromin 2
  • [Number-of-references] 39
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30. Coez A, Zilbovicius M, Ferrary E, Bouccara D, Mosnier I, Ambert-Dahan E, Kalamarides M, Bizaguet E, Syrota A, Samson Y, Sterkers O: Processing of voices in deafness rehabilitation by auditory brainstem implant. Neuroimage; 2009 Oct 1;47(4):1792-6
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  • Profound acquired deafness by post-meningitis ossified cochlea and by bilateral vestibular schwannoma in neurofibromatosis type 2 patients are two indications for auditory brainstem implantation (ABI).


31. Kim NR, Cho SJ, Suh YL: Allelic loss on chromosomes 1p32, 9p21, 13q14, 16q22, 17p, and 22q12 in meningiomas associated with meningioangiomatosis and pure meningioangiomatosis. J Neurooncol; 2009 Sep;94(3):425-30
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  • Meningioangiomatosis (MA) is a rare lesion appearing sporadically or as a part of neurofibromatosis 2.

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  • [Cites] Brain Pathol. 2002 Apr;12(2):183-90 [11958372.001]
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  • (PMID = 19347254.001).
  • [ISSN] 1573-7373
  • [Journal-full-title] Journal of neuro-oncology
  • [ISO-abbreviation] J. Neurooncol.
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article; Research Support, Non-U.S. Gov't
  • [Publication-country] United States
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32. Aghi M, Kluwe L, Webster MT, Jacoby LB, Barker FG 2nd, Ojemann RG, Mautner VF, MacCollin M: Unilateral vestibular schwannoma with other neurofibromatosis type 2-related tumors: clinical and molecular study of a unique phenotype. J Neurosurg; 2006 Feb;104(2):201-7
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  • [Title] Unilateral vestibular schwannoma with other neurofibromatosis type 2-related tumors: clinical and molecular study of a unique phenotype.
  • OBJECT: Although the manifestations of neurofibromatosis Type 2 (NF2) vary, the hallmark is bilateral vestibular schwannomas (VSs).
  • The authors studied the clinical course and genetic basis of unilateral VSs associated with other NF2-related tumors.
  • METHODS: Forty-four adults presenting with unilateral VSs and other NF2-related tumors were identified.
  • Molecular analysis of the NF2 locus was performed in available tumors and paired blood specimens.
  • Thirty-eight harbored other intracranial tumors and 27 had spinal tumors, with most lesions situated ipsilateral to the vs. No patient had a relative with NF2, although two of 63 offspring had isolated NF2-related findings.
  • Mosaicism for the NF2 gene mutation was proven in eight patients.
  • CONCLUSIONS: The authors describe the clinical features of this unique phenotype--unilateral VS with other NF2-related tumors.
  • Persons with this phenotype should undergo evaluation and monitoring similar to that conducted in patients with NF2, and the possibility of aggressive contralateral VS formation should be considered in their treatment.
  • [MeSH-major] Neurofibromatosis 2 / complications. Neuroma, Acoustic / genetics. Neuroma, Acoustic / pathology
  • [MeSH-minor] Adolescent. Adult. Age of Onset. Child. DNA Mutational Analysis. Disease Progression. Female. Functional Laterality. Genes, Neurofibromatosis 2. Humans. Male. Middle Aged. Phenotype. Prognosis. Retrospective Studies


33. Bai Y, Liu YJ, Wang H, Xu Y, Stamenkovic I, Yu Q: Inhibition of the hyaluronan-CD44 interaction by merlin contributes to the tumor-suppressor activity of merlin. Oncogene; 2007 Feb 8;26(6):836-50
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  • Mutation or loss of expression of merlin is responsible for neurofibromatosis type 2 (NF2), which is characterized by the development of schwannomas and other tumors of the nervous system.
  • In the present study, we show that increased expression of wild-type merlin in Tr6BC1 schwannoma cells inhibits HA binding to CD44.

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  • (PMID = 16953231.001).
  • [ISSN] 0950-9232
  • [Journal-full-title] Oncogene
  • [ISO-abbreviation] Oncogene
  • [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 / Actins; 0 / Amino Acids; 0 / Antigens, CD44; 0 / Cytoskeletal Proteins; 0 / Neurofibromin 2; 0 / Tumor Suppressor Proteins; 0 / ezrin; 9004-61-9 / Hyaluronic Acid; TPY09G7XIR / Fluorescein
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34. Feucht M, Griffiths B, Niemüller I, Haase W, Richard G, Mautner VF: Neurofibromatosis 2 leads to higher incidence of strabismological and neuro-ophthalmological disorders. Acta Ophthalmol; 2008 Dec;86(8):882-6
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  • [Title] Neurofibromatosis 2 leads to higher incidence of strabismological and neuro-ophthalmological disorders.
  • PURPOSE: Ophthalmic features of neurofibromatosis 2 (NF2) include juvenile cataract, retinal hamartomas and tumours of the cranial nerves.
  • Eleven of 73 patients had a nystagmus, mostly caused by peripheral-vestibular disturbance.
  • In the subgroup analysis of NF2 mutation types, the relative risk for cranial nerve palsies and negative stereopsis was statistically significantly increased for the nonsense mutation group.
  • CONCLUSIONS: The present study is, to our knowledge, the first to examine a larger collection of NF2 patients for strabismological and neuro-ophthalmological lesions.
  • Compared with the normal population, our sample showed a higher amount of strabismus, refractive errors and an increased incidence of vestibular nystagmus.
  • [MeSH-major] Eye Diseases / epidemiology. Eye Diseases / etiology. Nervous System Diseases / epidemiology. Nervous System Diseases / etiology. Neurofibromatosis 2 / complications. Strabismus / epidemiology. Strabismus / etiology
  • [MeSH-minor] Codon, Nonsense. Cranial Nerve Diseases / epidemiology. Cranial Nerve Diseases / etiology. Depth Perception. Genes, Neurofibromatosis 2. Humans. Incidence. Nystagmus, Pathologic / epidemiology. Nystagmus, Pathologic / etiology. Paralysis / epidemiology. Paralysis / etiology. Refractive Errors / epidemiology. Refractive Errors / etiology. Retrospective Studies. Vestibular Diseases / complications. Vestibular Diseases / etiology. Vision, Binocular. Visual Acuity

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  • (PMID = 18976311.001).
  • [ISSN] 1755-3768
  • [Journal-full-title] Acta ophthalmologica
  • [ISO-abbreviation] Acta Ophthalmol
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] England
  • [Chemical-registry-number] 0 / Codon, Nonsense
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35. Lecomte C, Andujar P, Renier A, Kheuang L, Abramowski V, Mellottee L, Fleury-Feith J, Zucman-Rossi J, Giovannini M, Jaurand MC: Similar tumor suppressor gene alteration profiles in asbestos-induced murine and human mesothelioma. Cell Cycle; 2005 Dec;4(12):1862-9
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • Mutations in Nf2, p16/Cdkn2a, p19/Arf and Trp53 genes and protein expression of p15/Cdkn2b and Cdk4 were analyzed in 12 cultures from mice hemizygous for Nf2 (asb-Nf2(KO3/+)) and 4 wild type counterparts (asb-Nf2(+/+)).
  • We have found frequent inactivations of p16/Cdkn2a, p19/Arf (or P14/ARF) and p15/Cdkn2b, coinactivation of p16/Cdkn2a and p15/Cdkn2b and low rate of Trp53 mutations in both asb-Nf2(KO3/+) and asb-Nf2(+/+) mesothelioma cells.
  • Loss of heterozygosity at the Nf2 locus was detected in 10 of 11 asb-Nf2(KO3/+) cultures and Nf2 gene rearrangement in one asb-Nf2(+/+) culture.


36. 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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  • 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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37. Evans DG, Howard E, Giblin C, Clancy T, Spencer H, Huson SM, Lalloo F: Birth incidence and prevalence of tumor-prone syndromes: estimates from a UK family genetic register service. Am J Med Genet A; 2010 Feb;152A(2):327-32
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  • Mapping birth dates of affected individuals from families onto regional birth rates has allowed an estimate of birth incidence, disease prevalence, and de novo mutation rates.
  • Disease prevalence in order of frequency were for neurofibromatosis type 1 (NF1): 1 in 4,560; familial adenomatous polyposis (FAP): 1 in 18,976; nevoid basal cell carcinoma [Gorlin syndrome (GS)]: 1 in 30,827; neurofibromatosis type 2 (NF2) 1 in 56,161; and von Hippel Lindau (VHL) 1 in 91,111.
  • The proportions due to de novo mutation were: 42% (NF1); 16% (FAP); 26% (GS); 56% (NF2); and 21% (VHL).
  • Estimates for NF1, NF2, FAP, and VHL are in line with previous estimates, and we provide the first estimates of birth incidence and de novo mutation rate for GS.
  • [MeSH-minor] Adenomatous Polyposis Coli / genetics. Basal Cell Nevus Syndrome / genetics. DNA Mutational Analysis. Great Britain. Humans. Incidence. Mutation. Neurofibromatosis 2 / genetics. Prevalence. Syndrome. Von Hippel-Lindau Tumor Suppressor Protein / genetics. von Hippel-Lindau Disease / genetics

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  • [Copyright] Copyright 2010 Wiley-Liss, Inc.
  • (PMID = 20082463.001).
  • [ISSN] 1552-4833
  • [Journal-full-title] American journal of medical genetics. Part A
  • [ISO-abbreviation] Am. J. Med. Genet. A
  • [Language] eng
  • [Publication-type] Journal Article; Research Support, Non-U.S. Gov't
  • [Publication-country] United States
  • [Chemical-registry-number] EC 6.3.2.19 / Von Hippel-Lindau Tumor Suppressor Protein
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38. Meng F, Henson R, Wehbe-Janek H, Smith H, Ueno Y, Patel T: The MicroRNA let-7a modulates interleukin-6-dependent STAT-3 survival signaling in malignant human cholangiocytes. J Biol Chem; 2007 Mar 16;282(11):8256-64
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  • (ii) selective miRNAs including let-7a are up-regulated and contribute to the survival effects of enforced IL-6 activity; and (iii) let-7a contributes to the constitutively increased phosphorylation of Stat-3 by a mechanism involving the neurofibromatosis 2 (NF2) gene.

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  • (PMID = 17220301.001).
  • [ISSN] 0021-9258
  • [Journal-full-title] The Journal of biological chemistry
  • [ISO-abbreviation] J. Biol. Chem.
  • [Language] ENG
  • [Grant] United States / NIDDK NIH HHS / DK / DK069370-02; United States / NIDDK NIH HHS / DK / R01 DK069370; United States / NIDDK NIH HHS / DK / DK069370; United States / NIDDK NIH HHS / DK / R01 DK069370-02
  • [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 / Interleukin-6; 0 / MicroRNAs; 0 / Neurofibromin 2; 0 / STAT3 Transcription Factor; 0 / STAT3 protein, human; 0 / mirnlet7 microRNA, human
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39. Guntinas-Lichius O: Hearing improvement after bevacizumab for neurofibromatosis type 2. N Engl J Med; 2009 Oct 29;361(18):1809-10; author reply 1810-1
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  • [Title] Hearing improvement after bevacizumab for neurofibromatosis type 2.
  • [MeSH-major] Angiogenesis Inhibitors / therapeutic use. Antibodies, Monoclonal / therapeutic use. Hearing Loss / drug therapy. Neurofibromatosis 2 / complications. Neuroma, Acoustic / drug therapy

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  • [CommentOn] N Engl J Med. 2009 Jul 23;361(4):358-67 [19587327.001]
  • (PMID = 19864683.001).
  • [ISSN] 1533-4406
  • [Journal-full-title] The New England journal of medicine
  • [ISO-abbreviation] N. Engl. J. Med.
  • [Language] eng
  • [Publication-type] Comment; Letter
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / Angiogenesis Inhibitors; 0 / Antibodies, Monoclonal; 0 / Antibodies, Monoclonal, Humanized; 2S9ZZM9Q9V / Bevacizumab
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40. Girard N: [Imaging features of neurofibromatosis type 2]. J Neuroradiol; 2005 Jun;32(3):198-203
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  • [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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41. de Raedt T, Cools J, Debiec-Rychter M, Brems H, Mentens N, Sciot R, Himpens J, de Wever I, Schöffski P, Marynen P, Legius E: Intestinal neurofibromatosis is a subtype of familial GIST and results from a dominant activating mutation in PDGFRA. Gastroenterology; 2006 Dec;131(6):1907-12
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  • [Title] Intestinal neurofibromatosis is a subtype of familial GIST and results from a dominant activating mutation in PDGFRA.
  • BACKGROUND & AIMS: Intestinal neurofibromatosis (Online Mendelian inheritance in Man database number 162220) is an alternate form of neurofibromatosis.
  • Patients present with neurofibromas limited to the intestine in the absence of any other typical features of NF1 and NF2.
  • At present, the molecular basis of intestinal neurofibromatosis remains elusive.
  • The aim of the present study was to find the gene responsible for intestinal neurofibromatosis and to characterize functionally the mutation.
  • METHODS: Three candidate genes (NF1, KIT, and PDGFRA) were screened for mutations in 3 sisters diagnosed with intestinal neurofibromatosis.
  • The clinical phenotype in the reported family resembles the syndrome of familial gastrointestinal stromal tumors (familial GIST).
  • Somatic activating mutations in KIT and PDGFRA are frequent in sporadic GISTs, and mutations in both genes have also been described in familial GISTs.
  • CONCLUSIONS: The inherited PDGFRA mutation in the reported family shows that intestinal neurofibromatosis is allelic to familial GIST caused by PDGRA mutations.
  • We therefore propose that these tumors be classified as familial KIT-negative gastrointestinal stromal tumors.
  • [MeSH-major] Gastrointestinal Stromal Tumors / classification. Gastrointestinal Stromal Tumors / genetics. Intestinal Diseases / genetics. Mutation / genetics. Neurofibromatoses / genetics. Receptor, Platelet-Derived Growth Factor alpha / genetics
  • [MeSH-minor] Adult. Aged. Cells, Cultured. DNA / genetics. Female. Gene Expression Regulation. Humans. Male. Middle Aged. Neurofibromatosis 1 / genetics. Neurofibromatosis 1 / metabolism. Pedigree. Proto-Oncogene Proteins c-kit / genetics. Proto-Oncogene Proteins c-kit / metabolism


42. Lim JY, Kim H, Jeun SS, Kang SG, Lee KJ: Merlin inhibits growth hormone-regulated Raf-ERKs pathways by binding to Grb2 protein. Biochem Biophys Res Commun; 2006 Feb 24;340(4):1151-7
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  • Numerous studies have suggested that the NF2 protein merlin is involved in the regulation of abnormal cell growth and proliferation.


43. Ferrer M, Schulze A, Gonzalez S, Ferreiro V, Ciavarelli P, Otero J, Giliberto F, Basso A, Szijan I: Neurofibromatosis type 2: molecular and clinical analyses in Argentine sporadic and familial cases. Neurosci Lett; 2010 Aug 9;480(1):49-54
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Neurofibromatosis type 2: molecular and clinical analyses in Argentine sporadic and familial cases.
  • Neurofibromatosis 2 is a familial syndrome characterized by the development of schwannomas, meningiomas and ependymomas.
  • These tumors are developed as the outcome of NF2 gene (22q12) inactivation.
  • The NF2 protein, merlin or schwannomin belongs to the Ezrin, Radixin, Moesin (ERM) family involved in the cytoskeletal network and has a tumor suppressor function.
  • Inactivating mutations occur as "de novo" (more frequently) or as inherited, and most of them are frameshift or nonsense.
  • Our aim is to study NF2 gene alterations in Argentine patients and relate them to clinical features.
  • 1) at-risk haplotype by STR-segregation analysis and 2) NF2 gene mutations by SSCP/heteroduplex/sequencing.
  • [MeSH-major] Neurofibromatosis 2 / genetics. Neurofibromin 2 / genetics


44. Otto SR, Shannon RV, Wilkinson EP, Hitselberger WE, McCreery DB, Moore JK, Brackmann DE: Audiologic outcomes with the penetrating electrode auditory brainstem implant. Otol Neurotol; 2008 Dec;29(8):1147-54
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  • OBJECTIVE: The penetrating electrode auditory brainstem implant (PABI) is an extension of auditory brainstem implant (ABI) technology originally developed for individuals deafened by neurofibromatosis type 2.
  • PATIENTS AND PROTOCOL: In a prospective clinical trial, 10 individuals, all with neurofibromatosis type 2, received a PABI after vestibular schwannoma removal via a translabyrinthine approach.
  • [MeSH-major] Auditory Brain Stem Implants. Deafness / surgery. Hearing Aids. Hearing Tests. Neurofibromatosis 2 / complications. Prostheses and Implants

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  • (PMID = 18931643.001).
  • [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 / NIDCD NIH HHS / DC / N01-DC-1-2105; United States / NIDCD NIH HHS / DC / N01-DC-4-0005
  • [Publication-type] Journal Article; Research Support, N.I.H., Extramural
  • [Publication-country] United States
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45. Kazakov DV, Vanecek T, Sima R, Kutzner H, Michal M: Dendritic cell neurofibroma with pseudorosettes lacks mutations in exons 1-15 of the neurofibromatosis type 2 gene. Am J Dermatopathol; 2005 Aug;27(4):286-9
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  • [Title] Dendritic cell neurofibroma with pseudorosettes lacks mutations in exons 1-15 of the neurofibromatosis type 2 gene.
  • Dendritic cell neurofibroma with pseudorosettes (DCNWPR) is a recently proposed variant of neurofibroma with a distinctive microscopic appearance that is produced by a pseudorosette pattern formed by small, dark, lymphocyte-like cells (Type I cells) arranged concentrically around larger cells, with pale-staining vesicular nuclei and copious faintly eosinophilic cytoplasm (Type II cells).
  • Although DCNWPR appears not to be associated with neurofibromatosis (NF), 1 patient with DCNWPR has been described and suggested to have a form of NF because of multiple skin lesions, with 2 of them being DCNWPR as confirmed histologically.
  • The aim of this study was to find out whether the neurofibromatosis type 2 (NF2) gene is mutated in DCNWPR.
  • All patients clinically presented with a small solitary lesion that was clinically diagnosed as fibroma or neurofibroma, and none of the patients had signs of NF.
  • Exons 1 to 15 of the NF2 gene were amplified by PCR using primers previously published.
  • DCNWPR appears to have no mutation in exons 1-15 of the NF2 gene.
  • Given the relatively small number of cases studied, it seems premature to declare that a mutation of the NF2 gene is not involved in DCNWPR, as the possibility cannot be excluded that mutations were present but remained undetected because they occurred in exons that were not examined.
  • [MeSH-major] Dendritic Cells / pathology. Genes, Neurofibromatosis 2. Neurofibroma / genetics. Neurofibroma / pathology


46. Thurneysen C, Opitz I, Kurtz S, Weder W, Stahel RA, Felley-Bosco E: Functional inactivation of NF2/merlin in human mesothelioma. Lung Cancer; 2009 May;64(2):140-7
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  • [Title] Functional inactivation of NF2/merlin in human mesothelioma.
  • The tumor suppressor merlin is encoded by the neurofibromatosis type 2 gene (NF2) which is located on chromosome 22q12 and mutations in this gene have been found in 40% of mesothelioma.
  • Experimental animal models indicate that disruption of the NF2 signalling pathway, together with a deficiency in ink4a, is essential for mesothelioma development.
  • Our hypothesis was that in human mesothelioma without detectable NF2 mutations, regulators of NF2/merlin activity such as CPI-17 would be altered.
  • CPI-17 is an oncogene inhibiting the NF2/merlin phosphatase which is necessary to maintain NF2/merlin activity.
  • Samples obtained from 44 mesothelioma, 3 asbestosis patients and 6 normal pleura from non-asbestos related disease patients were analyzed.
  • Truncated NF2 transcripts or presence of isoform II only were observed in 11 mesothelioma samples.
  • In all other mesothelioma samples only NF2 isoform I or isoforms I and II were detected.
  • Unexpected variants in addition to wild-type were identified in 24 mesothelioma samples.
  • NF2 protein was either truncated or phosphorylated on Ser 518 in primary cultures derived from 25 tumors.
  • CPI-17 expression was significantly increased in tumor samples without deleted NF2 compared to normal pleura and tumor expressing truncated NF2.
  • Our results support the hypothesis that the disruption of NF2 signalling is essential for the development of human mesothelioma.
  • In tumors where no NF2 truncation can be detected, NF2 is rendered inactive by phosphorylation of Ser 518 and this can be explained at least in part by an increased expression of CPI-17.
  • [MeSH-major] Gene Expression Regulation, Neoplastic. Genes, Neurofibromatosis 2. Mesothelioma / metabolism. Neurofibromin 2 / metabolism. Phosphoprotein Phosphatases / metabolism


47. Sayagués JM, Tabernero MD, Maíllo A: [Cytogenetic alterations in meningioma tumors and their impact on disease outcome]. Med Clin (Barc); 2007 Feb 17;128(6):226-32
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  • [Title] [Cytogenetic alterations in meningioma tumors and their impact on disease outcome].
  • [Transliterated title] Alteraciones citogenéticas en meningiomas y su impacto en la evolución de la enfermedad.
  • Accordingly, while the presence of monosomy 22/22q-, associated with mutation of the NF2, BAM22, RRP22, GAR22, MN1, SMARCB1, CLH22 and/or LARGE genes, is associated with neoplasic transformation, other alterations such us monosomy 14, del(1p), different chromosomal abnormalities localized at 9p, 10q and 17q and complex karyotypes are frequently related to tumor progression.
  • From the clinical point of view, currently available information about the impact of the different cytogenetic abnormalities on disease behavior and patient outcome is still scanty; nevertheless, the presence of gains of chromosome 22 in the context of a hyperdiploid karyotype, as well as del(1p) and monosomy 14 have been associated with a statistically significantly shorter recurrence-free survival, this later abnormality showing an independent prognostic value.
  • [MeSH-minor] Cell Transformation, Neoplastic. Disease Progression. Humans. Prognosis

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  • (PMID = 17335728.001).
  • [ISSN] 0025-7753
  • [Journal-full-title] Medicina clínica
  • [ISO-abbreviation] Med Clin (Barc)
  • [Language] spa
  • [Publication-type] English Abstract; Journal Article; Review
  • [Publication-country] Spain
  • [Number-of-references] 110
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48. Gabeau-Lacet D, Engler D, Gupta S, Scangas GA, Betensky RA, Barker FG 2nd, Loeffler JS, Louis DN, Mohapatra G: Genomic profiling of atypical meningiomas associates gain of 1q with poor clinical outcome. J Neuropathol Exp Neurol; 2009 Oct;68(10):1155-65
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  • Eighty-five percent of samples exhibited loss of 22q, including the neurofibromatosis type 2 gene.

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  • (PMID = 19918127.001).
  • [ISSN] 1554-6578
  • [Journal-full-title] Journal of neuropathology and experimental neurology
  • [ISO-abbreviation] J. Neuropathol. Exp. Neurol.
  • [Language] ENG
  • [Grant] United States / NCI NIH HHS / CA / T32CA09216; United States / NCI NIH HHS / CA / R21 CA106695; United States / NCI NIH HHS / CA / R33 CA106695-03; United States / NCI NIH HHS / CA / T32 CA009216-28; United States / NCI NIH HHS / CA / CA009216-28; United States / NCI NIH HHS / CA / T32 CA009216; United States / NCI NIH HHS / CA / CA106695-03; United States / NCI NIH HHS / CA / R21 CA106695-02; United States / NCI NIH HHS / CA / R33 CA106695; United States / NCI NIH HHS / CA / CA106695-02
  • [Publication-type] Journal Article; Research Support, N.I.H., Extramural
  • [Publication-country] England
  • [Other-IDs] NLM/ NIHMS187123; NLM/ PMC2847373
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49. Dickinson PJ, Surace EI, Cambell M, Higgins RJ, Leutenegger CM, Bollen AW, LeCouteur RA, Gutmann DH: Expression of the tumor suppressor genes NF2, 4.1B, and TSLC1 in canine meningiomas. Vet Pathol; 2009 Sep;46(5):884-92
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  • [Title] Expression of the tumor suppressor genes NF2, 4.1B, and TSLC1 in canine meningiomas.
  • Several tumor suppressor genes have been implicated in meningioma pathogenesis in humans, including the neurofibromatosis 2 (NF2), protein 4.1B (4.1 B), and tumor suppressor in lung cancer-1 (TSLC1) genes.
  • We investigated the expression of these tumor suppressor genes in a series of spontaneous canine meningiomas using quantitative real-time reverse transcription polymerase chain reaction (RT-PCR) (NF2; n = 25) and western blotting (NF2/merlin, 4.1B, TSLC1; n = 30).
  • NF2 gene expression assessed by western blotting and RT-PCR varied considerably between individual tumors.
  • Complete loss of NF2 protein on western blotting was not seen, unlike 4.1B and TSLC1.
  • Incidence of TSLC1 abnormalities was similar to that seen in human meningiomas, while perturbation of NF2 and 4.1B appeared to be less common than reported for human tumors.
  • [MeSH-major] Dog Diseases / pathology. Gene Expression Regulation, Neoplastic / physiology. Meningeal Neoplasms / veterinary. Meningioma / veterinary. Neurofibromatosis 2 / metabolism. Neurofibromin 2 / metabolism. Tumor Suppressor Proteins / metabolism

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  • (PMID = 19429976.001).
  • [ISSN] 1544-2217
  • [Journal-full-title] Veterinary pathology
  • [ISO-abbreviation] Vet. Pathol.
  • [Language] eng
  • [Publication-type] Journal Article; Research Support, Non-U.S. Gov't
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / Neurofibromin 2; 0 / RNA, Neoplasm; 0 / Tumor Suppressor Proteins
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50. Chadee DN, Xu D, Hung G, Andalibi A, Lim DJ, Luo Z, Gutmann DH, Kyriakis JM: Mixed-lineage kinase 3 regulates B-Raf through maintenance of the B-Raf/Raf-1 complex and inhibition by the NF2 tumor suppressor protein. Proc Natl Acad Sci U S A; 2006 Mar 21;103(12):4463-8
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  • [Title] Mixed-lineage kinase 3 regulates B-Raf through maintenance of the B-Raf/Raf-1 complex and inhibition by the NF2 tumor suppressor protein.
  • We show that the activation of ERK and the proliferation of human schwannoma cells bearing a loss-of-function mutation in the neurofibromatosis 2 (NF2) gene require MLK3.
  • We find that merlin, the product of NF2, blunts the activation of both ERK and c-Jun N-terminal kinase (JNK).


51. Jin Y, Row KH: [Optimum separation conditions of catechin compounds by HCI program in reversed-phase high performance liquid chromatography]. Se Pu; 2006 Sep;24(5):466-70
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  • The elution profiles were calculated by the plate theory based on the linear and quadratic equations of retention factor, In k = ln kw + SF, k = A + B/F, ln k = L + MF + NF2, where F is the volume fraction of methanol in the mobile phase.

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  • (PMID = 17165539.001).
  • [ISSN] 1000-8713
  • [Journal-full-title] Se pu = Chinese journal of chromatography
  • [ISO-abbreviation] Se Pu
  • [Language] CHI
  • [Publication-type] English Abstract; Journal Article
  • [Publication-country] China
  • [Chemical-registry-number] 8R1V1STN48 / Catechin
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52. Arístegui M, Denia A: Simultaneous cochlear implantation and translabyrinthine removal of vestibular schwannoma in an only hearing ear: report of two cases (neurofibromatosis type 2 and unilateral vestibular schwannoma). Otol Neurotol; 2005 Mar;26(2):205-10
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  • [Title] Simultaneous cochlear implantation and translabyrinthine removal of vestibular schwannoma in an only hearing ear: report of two cases (neurofibromatosis type 2 and unilateral vestibular schwannoma).
  • STUDY DESIGN: This is a retrospective case review of two cases of vestibular schwannoma (VS) in the only hearing ear in which a cochlear implant (CI) was placed simultaneous to removal of VS through a modified enlarged translabyrinthine approach.
  • PATIENTS: The study includes a report of two cases: a case of a Neurofibromatosis Type 2 (NF2) patient who received a MEDEL COMBI 40+ CI after a translabyrinthine surgery for removal of a large (4.0 cm) cystic VS; and a patient with a 1.2 cm VS in the only hearing ear who was submitted to the same strategy and operation, using a Nucleus 24 Contour CI.
  • CONCLUSION: The present cases demonstrate that cochlear implantation can be successful after a translabyrinthine approach for VS, regardless of the tumor size, the kind of patient (NF2, unilateral VS), and the type of implant.
  • [MeSH-major] Cochlear Implantation / methods. Hearing Loss, Bilateral / surgery. Neurofibromatosis 2 / surgery. Neuroma, Acoustic / surgery
  • [MeSH-minor] Audiometry, Pure-Tone. Cochlear Nerve / pathology. Cochlear Nerve / surgery. Combined Modality Therapy. Ear, Inner / surgery. Ear, Middle / pathology. Ear, Middle / surgery. Electrodes, Implanted. Facial Nerve / pathology. Facial Nerve / surgery. Female. Follow-Up Studies. Humans. Male. Middle Aged. Postoperative Complications / diagnosis. Postoperative Complications / surgery. Prosthesis Design. Reoperation / methods. Speech Discrimination Tests. Tomography, X-Ray Computed


53. Hakan T, Celikoğlu E, Aker F, Barişik N: Spinal schwannomatosis: case report of a rare condition. Turk Neurosurg; 2008 Jul;18(3):320-3
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  • Schwannomatosis is a rare tumour syndrome characterized by more than one schwannoma without any sign of neurofibromatosis (NF).
  • The histological diagnosis was schwannoma.
  • The neurological examination was normal except bilateral positive straight leg raising test and dysesthesia at the L3,4 and 5 dermatomes.
  • The histological diagnosis was schwannoma.
  • A detailed clinical examination and MR scanning of the central nervous syndrome excluded NF2.
  • [MeSH-minor] Cervical Vertebrae. Diagnosis, Differential. Humans. Laminectomy. Male. Neurofibromatosis 2 / pathology. Young Adult

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  • (PMID = 18814127.001).
  • [ISSN] 1019-5149
  • [Journal-full-title] Turkish neurosurgery
  • [ISO-abbreviation] Turk Neurosurg
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] Turkey
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54. Jindal HK, Yoshinaga K, Seo PS, Lutchman M, Dion PA, Rouleau GA, Hanada T, Chishti AH: Purification of the NF2 tumor suppressor protein from human erythrocytes. Can J Neurol Sci; 2006 Nov;33(4):394-402
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  • [Title] Purification of the NF2 tumor suppressor protein from human erythrocytes.
  • BACKGROUND: Neurofibromatosis type 2 (NF2) is an autosomal dominant disease predisposing individuals to the risk of developing tumors of cranial and spinal nerves.
  • The NF2 tumor suppressor protein, known as Merlin/Schwanomin, is a member of the protein 4.1 superfamily that function as links between the cytoskeleton and the plasma membrane.
  • METHODS: Upon selective extraction of membrane-associated proteins from erythrocyte plasma membrane (ghosts) using low ionic strength solution, the bulk of NF2 protein remains associated with the spectrin-actin depleted inside-out-vesicles.
  • Furthermore, quantitative removal of NF2 protein from the inside-out-vesicles was achieved using 1.0 M potassium iodide, a treatment known to remove tightly-bound peripheral membrane proteins.
  • RESULTS: These results suggest a novel mode of NF2 protein association with the erythrocyte membrane that is distinct from the known membrane interactions of protein 4.1.
  • Based on these biochemical properties, several purification strategies were devised to isolate native NF2 protein from human erythrocyte ghosts.
  • Using purified and recombinant NF2 protein as internal standards, we quantified approximately 41-65,000 molecules of NF2 protein per erythrocyte.
  • CONCLUSION: We provide evidence for the presence of NF2 protein in the human erythrocyte membrane.
  • The identification of NF2 protein in the human erythrocyte membrane will make it feasible to discover novel interactions of NF2 protein utilizing powerful techniques of erythrocyte biochemistry and genetics in mammalian cells.

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  • (PMID = 17168165.001).
  • [ISSN] 0317-1671
  • [Journal-full-title] The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques
  • [ISO-abbreviation] Can J Neurol Sci
  • [Language] eng
  • [Grant] United States / NHLBI NIH HHS / HL / HL 60755
  • [Publication-type] Journal Article; Research Support, N.I.H., Extramural; Research Support, U.S. Gov't, Non-P.H.S.
  • [Publication-country] Canada
  • [Chemical-registry-number] 0 / Neurofibromin 2
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55. Xiao HJ, Au DK, Yau H, Chow CK, Fan YW, Wei WI: Neurofibromatosis type 2 and auditory brainstem implantation. Chin Med J (Engl); 2007 Aug 20;120(16):1456-9
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  • [Title] Neurofibromatosis type 2 and auditory brainstem implantation.
  • [MeSH-major] Auditory Brain Stem Implantation / methods. Neurofibromatosis 2 / surgery


56. 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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  • (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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57. Kokkinakis DM, Liu X, Neuner RD: Modulation of cell cycle and gene expression in pancreatic tumor cell lines by methionine deprivation (methionine stress): implications to the therapy of pancreatic adenocarcinoma. Mol Cancer Ther; 2005 Sep;4(9):1338-48
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  • Although methionine stress-induced toxicity is not solely dependent on p53, the gain in p21 and loss in CDK1 transcription are more enhanced in wild-type p53 tumors.
  • Cell cycle and mitotic arrest is in agreement with up-regulation of NF2, ETS2, CLU, GADD45alpha, GADD45beta, and GADD45gamma and down-regulation of AURKB, TOP2A, CCNA, CCNB, PRC1, BUB1, NuSAP, IFI16, and BRCA1.


58. Combs SE, Thilmann C, Debus J, Schulz-Ertner D: Long-term outcome of stereotactic radiosurgery (SRS) in patients with acoustic neuromas. Int J Radiat Oncol Biol Phys; 2006 Apr 1;64(5):1341-7
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  • [Title] Long-term outcome of stereotactic radiosurgery (SRS) in patients with acoustic neuromas.
  • PURPOSE: To evaluate the effectiveness and long-term outcome of stereotactic radiosurgery (SRS) for acoustic neuromas (AN).
  • Two patients suffered from neurofibromatosis type 2.
  • [MeSH-major] Hearing / radiation effects. Neuroma, Acoustic / surgery. Radiosurgery
  • [MeSH-minor] Adult. Aged. Aged, 80 and over. Facial Nerve / radiation effects. Facial Paralysis / etiology. Female. Hearing Loss / etiology. Humans. Male. Middle Aged. Neurofibromatosis 2 / complications. Radiation Injuries / etiology. Trigeminal Neuralgia / etiology

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  • (PMID = 16464537.001).
  • [ISSN] 0360-3016
  • [Journal-full-title] International journal of radiation oncology, biology, physics
  • [ISO-abbreviation] Int. J. Radiat. Oncol. Biol. Phys.
  • [Language] eng
  • [Publication-type] Evaluation Studies; Journal Article
  • [Publication-country] United States
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59. Roche PH, Bouvier C, Chinot O, Figarella-Branger D: Genesis and biology of vestibular schwannomas. Prog Neurol Surg; 2008;21:24-31
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  • [Title] Genesis and biology of vestibular schwannomas.
  • This review chapter is a synthesis of the recent literature about pathogenesis of schwannomas with emphasis on vestibular schwannomas (VSs).
  • The understanding of this mechanism has been gained from molecular genetic studies of neurofibromatosis type 2 (NF2) patients, in whom mutations of a tumor suppressor gene (NF2 gene) was clearly identified.
  • S/M is the normal NF2 gene product.
  • Lack of normal S/M protein in the schwannoma cell is due to gene mutation in 50% of sporadic VSs.
  • Apart from the involvement of the S/M pathway, the authors review the potential role of other genetic abnormalities and growing factors that are supposed to be involved in the pathogenesis of vs. Understanding the pathways of action and regulation of S/M may provide the basics for identifying potential therapeutic targets, which is of paramount importance for a better management of NF2 patients.
  • [MeSH-major] Genes, Neurofibromatosis 2 / physiology. Neurofibromin 2 / physiology. Neuroma, Acoustic / genetics. Neuroma, Acoustic / pathology
  • [MeSH-minor] Epigenesis, Genetic / physiology. Humans. Neurofibromatosis 2 / complications. Neurofibromatosis 2 / genetics

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  • (PMID = 18810196.001).
  • [ISSN] 0079-6492
  • [Journal-full-title] Progress in neurological surgery
  • [ISO-abbreviation] Prog Neurol Surg
  • [Language] eng
  • [Publication-type] Journal Article; Review
  • [Publication-country] Switzerland
  • [Chemical-registry-number] 0 / Neurofibromin 2
  • [Number-of-references] 43
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60. Cunningham CD 3rd, Friedman RA, Brackmann DE, Hitselberger WE, Lin HW: Neurotologic skull base surgery in pediatric patients. Otol Neurotol; 2005 Mar;26(2):231-6
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  • OBJECTIVE: Innovations in diagnosis, surgical techniques, and perioperative care have dramatically improved outcomes in lateral skull base procedures in recent years.
  • PATIENTS: Eighty-nine pediatric patients undergoing 115 neurotologic procedures for lateral skull base tumors from July 1992 to September 2003.
  • MAIN OUTCOME MEASURES: Initial clinical presentation, tumor type, pre- and postoperative hearing and facial nerve status, treatment course, complications, and functional outcomes.
  • RESULTS: The majority of tumors in this series were vestibular schwannomas, and 65 patients were diagnosed with neurofibromatosis Type 2.
  • Complete tumor removal was accomplished in the majority of cases (97%), with good preservation of facial nerve function (House-Brackmann Grade I or II) in 80% of patients.
  • CONCLUSION: With advances in diagnostic procedures and use of current neurotologic techniques, pediatric patients may undergo successful treatment of lateral skull base tumors, with good functional outcomes and minimal morbidity.
  • [MeSH-major] Neurofibromatosis 2 / surgery. Neuroma, Acoustic / surgery. Postoperative Complications / etiology. Skull Base / surgery. Skull Base Neoplasms / surgery

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  • (PMID = 15793410.001).
  • [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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61. 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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62. Sharma MS, Singh R, Kale SS, Agrawal D, Sharma BS, Mahapatra AK: Tumor control and hearing preservation after Gamma Knife radiosurgery for vestibular schwannomas in neurofibromatosis type 2. J Neurooncol; 2010 Jun;98(2):265-70
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  • [Title] Tumor control and hearing preservation after Gamma Knife radiosurgery for vestibular schwannomas in neurofibromatosis type 2.
  • To analyze the effect of Gamma Knife radiosurgery (GKS) on tumor control and hearing preservation rates in patients with vestibular schwannomas (VS) in a setting of neurofibromatosis type 2 (NF 2), a retrospective study was carried out at a tertiary-level referral Gamma Knife unit.
  • Dose plans, pre- and postoperative radiology, and follow-up clinical records of patients with NF 2 who had undergone GKS for VS using a Leksell Gamma Knife (Elekta Instruments AB, Stockholm, Sweden) model B unit from 1997 to 2008 were reviewed.
  • Twenty-four patients had bilateral vs. The commonest clinical presentation was hearing loss and tinnitus.
  • GKS for VS provides satisfactory tumor control and hearing preservation in patients with NF 2.
  • [MeSH-major] Hearing / physiology. Neurofibromatosis 2 / surgery. Radiosurgery / methods

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63. Niv MY, Iida K, Zheng R, Horiguchi A, Shen R, Nanus DM: Rational redesign of neutral endopeptidase binding to merlin and moesin proteins. Protein Sci; 2009 May;18(5):1042-50
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  • Here we show that the ERM-related protein merlin (NF2) does not bind NEP or its cytosolic region.

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  • (PMID = 19388049.001).
  • [ISSN] 1469-896X
  • [Journal-full-title] Protein science : a publication of the Protein Society
  • [ISO-abbreviation] Protein Sci.
  • [Language] ENG
  • [Grant] United States / NCI NIH HHS / CA / CA80240; United States / NCI NIH HHS / PC / PC040758
  • [Publication-type] Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, Non-P.H.S.
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / Microfilament Proteins; 0 / Neurofibromin 2; 0 / Peptides; 144131-77-1 / moesin; EC 3.4.24.11 / Neprilysin
  • [Other-IDs] NLM/ PMC2771306
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64. Thomas R, Duke SE, Wang HJ, Breen TE, Higgins RJ, Linder KE, Ellis P, Langford CF, Dickinson PJ, Olby NJ, Breen M: 'Putting our heads together': insights into genomic conservation between human and canine intracranial tumors. J Neurooncol; 2009 Sep;94(3):333-49
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  • Interestingly, however, genomic imbalances orthologous to some of the hallmark aberrations of human intracranial tumors, including chromosome 22/NF2 deletions in meningiomas and chromosome 1p/19q deletions in oligodendrogliomas, were not major events in the dog.

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  • (PMID = 19333554.001).
  • [ISSN] 1573-7373
  • [Journal-full-title] Journal of neuro-oncology
  • [ISO-abbreviation] J. Neurooncol.
  • [Language] ENG
  • [Grant] United States / NINDS NIH HHS / NS / NS051190-01; United States / NINDS NIH HHS / NS / R21 NS051190; United States / NINDS NIH HHS / NS / R21 NS051190-01; United States / NINDS NIH HHS / NS / NS051190; United Kingdom / Wellcome Trust / /
  • [Publication-type] Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
  • [Publication-country] United States
  • [Other-IDs] NLM/ NIHMS183408; NLM/ PMC3225023
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65. McLaughlin ME, Kruger GM, Slocum KL, Crowley D, Michaud NA, Huang J, Magendantz M, Jacks T: The Nf2 tumor suppressor regulates cell-cell adhesion during tissue fusion. Proc Natl Acad Sci U S A; 2007 Feb 27;104(9):3261-6
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  • [Title] The Nf2 tumor suppressor regulates cell-cell adhesion during tissue fusion.
  • We found that in the mouse embryo, expression of the Nf2 tumor suppressor, merlin, is dynamically regulated during tissue fusion: Nf2 expression is low at the leading front before fusion and high across the fused tissue bridge.
  • Mosaic Nf2 mutants exhibit a global defect in tissue fusion characterized by ectopic detachment and increased detachment-induced apoptosis (anoikis).
  • Our work reveals that regulation of Nf2 expression is a previously unrecognized means of controlling adhesion at the leading front, thereby ensuring successful tissue fusion.

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  • (PMID = 17360635.001).
  • [ISSN] 0027-8424
  • [Journal-full-title] Proceedings of the National Academy of Sciences of the United States of America
  • [ISO-abbreviation] Proc. Natl. Acad. Sci. U.S.A.
  • [Language] eng
  • [Publication-type] Comparative Study; Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, Non-P.H.S.
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / DNA Primers; 0 / Neurofibromin 2
  • [Other-IDs] NLM/ PMC1801999
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66. Barski D, Wolter M, Reifenberger G, Riemenschneider MJ: Hypermethylation and transcriptional downregulation of the TIMP3 gene is associated with allelic loss on 22q12.3 and malignancy in meningiomas. Brain Pathol; 2010 May;20(3):623-31
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  • We performed direct sodium bisulfite sequencing in a series of 50 meningiomas, including 27 benign meningiomas [World Health Organization (WHO) grade I], 11 atypical meningiomas (WHO grade II) and 12 anaplastic meningiomas (WHO grade III), and found hypermethylation of TIMP3 in 67% of anaplastic meningiomas, but only 22% of atypical and 17% of benign meningiomas.
  • TIMP3 is located in the chromosomal band 22q12, the allelic loss of which occurs early in meningioma tumorigenesis and preferentially targets the NF2 tumor suppressor gene.
  • Thus, TIMP3 inactivation by methylation seems fairly exclusive to meningiomas with allelic losses on 22q12 but--in contrast to NF2 mutation--appears to be involved in meningioma progression as it is associated with a more aggressive, high-grade meningioma phenotype.
  • [MeSH-minor] Aged. Aged, 80 and over. Cell Line, Tumor. Disease Progression. Down-Regulation / genetics. Humans. Male. Middle Aged

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  • (PMID = 19922547.001).
  • [ISSN] 1750-3639
  • [Journal-full-title] Brain pathology (Zurich, Switzerland)
  • [ISO-abbreviation] Brain Pathol.
  • [Language] eng
  • [Publication-type] Journal Article; Research Support, Non-U.S. Gov't
  • [Publication-country] Switzerland
  • [Chemical-registry-number] 0 / TIMP3 protein, human; 0 / Tissue Inhibitor of Metalloproteinase-3
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67. Shen Y, Nunes F, Stemmer-Rachamimov A, James M, Mohapatra G, Plotkin S, Betensky RA, Engler DA, Roy J, Ramesh V, Gusella JF: Genomic profiling distinguishes familial multiple and sporadic multiple meningiomas. BMC Med Genomics; 2009 Jul 09;2:42
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  • [Title] Genomic profiling distinguishes familial multiple and sporadic multiple meningiomas.
  • BACKGROUND: Meningiomas may occur either as familial tumors in two distinct disorders, familial multiple meningioma and neurofibromatosis 2 (NF2), or sporadically, as either single or multiple tumors in individuals with no family history.
  • Meningiomas in NF2 and approximately 60% of sporadic meningiomas involve inactivation of the NF2 locus, encoding the tumor suppressor merlin on chromosome 22q.
  • This study was undertaken to establish whether genomic profiling could distinguish familial multiple meningiomas from sporadic solitary and sporadic multiple meningiomas.
  • METHODS: We compared 73 meningiomas presenting as sporadic solitary (64), sporadic multiple (5) and familial multiple (4) tumors using genomic profiling by array comparative genomic hybridization (array CGH).
  • RESULTS: Sporadic solitary meningiomas revealed genomic rearrangements consistent with at least two mechanisms of tumor initiation, as unsupervised cluster analysis readily distinguished tumors with chromosome 22 deletion (associated with loss of the NF2 tumor suppressor) from those without chromosome 22 deletion.
  • Whereas sporadic meningiomas without chromosome 22 loss exhibited fewer chromosomal imbalance events overall, tumors with chromosome 22 deletion further clustered into two major groups that largely, though not perfectly, matched with their benign (WHO Grade I) or advanced (WHO Grades II and III) histological grade, with the latter exhibiting a significantly greater degree of genomic imbalance (P < 0.001).
  • By contrast, familial multiple meningiomas displayed no imbalances, supporting a distinct mechanism for the origin for these tumors.
  • Most importantly, the striking difference observed between sporadic and familial multiple meningiomas indicates that genomic profiling can provide valuable information for differential diagnosis of subjects with multiple meningiomas and for considering the risk for tumor occurrence in their family members.

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  • (PMID = 19589153.001).
  • [ISSN] 1755-8794
  • [Journal-full-title] BMC medical genomics
  • [ISO-abbreviation] BMC Med Genomics
  • [Language] ENG
  • [Grant] United States / NINDS NIH HHS / NS / P01 NS024279
  • [Publication-type] Journal Article
  • [Publication-country] England
  • [Other-IDs] NLM/ PMC2716362
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68. Nascimento AF, Fletcher CD: The controversial nosology of benign nerve sheath tumors: neurofilament protein staining demonstrates intratumoral axons in many sporadic schwannomas. Am J Surg Pathol; 2007 Sep;31(9):1363-70
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  • This concept has recently been disputed in cases associated with neurofibromatosis type 2.
  • The amount (rare, focal, multifocal, and diffuse) and distribution (central and/or peripheral) of axons within the tumors were analyzed.
  • NFP-positive axons were identified in 11 of 20 (55%) conventional schwannomas (2 rare, 4 focal, 3 multifocal, and 2 diffuse; 5 central, 4 peripheral, and 2 central and peripheral) and in 15 of 20 (75%) cellular schwannomas (3 rare, 6 focal, and 6 multifocal; 12 central, 1 peripheral, and 2 central and peripheral).
  • Of the 20 ancient schwannomas, 7 cases (35%) showed intratumoral axons, highlighted by NFP immunostaining (1 rare, 4 focal, 1 multifocal, and 1 diffuse; 4 peripheral, 2 central, and 1 central and peripheral).
  • Most cases of gastric schwannoma showed no evidence of intratumoral axons; 9 cases (90%) were negative for NFP and only 1 case (10%) was positive (focal and central).
  • Seven of 10 cases (70%) of plexiform schwannomas were negative for NFP, whereas only 3 cases (30%) showed positive axons (2 multifocal and 1 focal; 3 central).
  • Although NFP-positive axons were most often present in the conventional and cellular variants of schwannoma, their presence was also observed in a minority of ancient, gastric and plexiform schwannomas.
  • Differentiation between neurofibroma and schwannoma in cases with overlapping cytoarchitectural features should not be based solely on the presence or absence of NFP-positive axons within a given tumor.
  • [MeSH-major] Axons / chemistry. Neurilemmoma / diagnosis. Neurofibroma / diagnosis. Neurofilament Proteins / analysis. S100 Proteins / analysis. Schwann Cells / chemistry. Stomach Neoplasms / diagnosis
  • [MeSH-minor] Cell Differentiation. Cell Proliferation. Diagnosis, Differential. Humans. Immunohistochemistry. Neoplasm Invasiveness. Predictive Value of Tests. Reproducibility of Results

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  • (PMID = 17721192.001).
  • [ISSN] 0147-5185
  • [Journal-full-title] The American journal of surgical pathology
  • [ISO-abbreviation] Am. J. Surg. Pathol.
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / Neurofilament Proteins; 0 / S100 Proteins
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69. Lenarz T, Lim HH, Reuter G, Patrick JF, Lenarz M: The auditory midbrain implant: a new auditory prosthesis for neural deafness-concept and device description. Otol Neurotol; 2006 Sep;27(6):838-43
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  • The auditory midbrain implant (AMI) is a new central auditory prosthesis designed for penetrating stimulation of the human inferior colliculus.
  • The major group of candidates for the AMI consists of neurofibromatosis type 2 (NF2) patients who develop neural deafness because of growth and/or surgical removal of bilateral acoustic neuromas.
  • However, speech perception performance in NF2 ABI patients has been limited.
  • The fact that the ABI is able to produce high levels of speech perception in nontumor patients (with inaccessible cochleae or posttraumatic damage to the cochlear nerve) suggests that limitations in ABI performance in NF2 patients may be associated with cochlear nucleus damage caused by the tumors or the tumor removal process.
  • Thus, stimulation of the auditory midbrain proximal to the damaged cochlear nucleus may be a better alternative for hearing restoration in NF2 patients.
  • We propose the central nucleus of the inferior colliculus (ICC) as the potential site.
  • The goal of this article is to present the ICC as an alternative site for an auditory implant for NF2 patients and to describe the design of the first human prototype AMI.
  • [MeSH-minor] Algorithms. Auditory Brain Stem Implants. Humans. Neurofibromatosis 2 / complications. Neuroma, Acoustic / complications. Neuroma, Acoustic / etiology. Neuroma, Acoustic / surgery. Treatment Outcome

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  • (PMID = 16936570.001).
  • [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; Review
  • [Publication-country] United States
  • [Number-of-references] 51
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70. Miyakawa T, Kamada N, Kobayashi T, Hirano K, Fujii K, Sasahara Y, Nagai Y, Shinkai H: Neurofibromatosis type 2 in an infant with multiple plexiform schwannomas as first symptom. J Dermatol; 2007 Jan;34(1):60-4
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  • [Title] Neurofibromatosis type 2 in an infant with multiple plexiform schwannomas as first symptom.
  • Neurofibromatosis type 2 (NF2) is an autosomal dominant disorder that is caused by inactivating mutations or a loss of both alleles in the NF2 tumor-suppressor gene.
  • Bilateral vestibular schwannomas are considered to be the hallmark of this disease, with hearing loss and tinnitus which are caused by these tumors, usually presenting as the initial symptoms.
  • In addition to other tumors and ocular findings, skin abnormalities also occur in NF2, however, they are not so characteristic as neurofibromatosis type 1 (NF1).
  • We herein report a case of NF2 which occurred in a 5-year-old boy.
  • He had multiple cutaneous tumors but did not have any symptoms related to vestibular schwannomas.
  • A histopathological examination revealed these tumors to be plexiform schwannomas; we therefore suspected NF2.
  • As a result of magnetic resonance imaging with gadolinium enhancement, bilateral vestibular schwannomas were detected and a final diagnosis of NF2 was thus made.
  • The association between NF2 and multiple depigmented spots is unknown, we therefore consider that multiple cutaneous plexiform schwannomas may strongly suggest an association with NF2.
  • [MeSH-major] Neurilemmoma / pathology. Neurofibromatosis 2 / pathology. Skin Neoplasms / pathology
  • [MeSH-minor] Child, Preschool. Humans. Male. Neuroma, Acoustic / pathology


71. Kuo YH, Roos D, Brophy BP: Linear accelerator radiosurgery for treatment of vestibular schwannomas in neurofibromatosis 2. J Clin Neurosci; 2008 Jul;15(7):744-8
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  • [Title] Linear accelerator radiosurgery for treatment of vestibular schwannomas in neurofibromatosis 2.
  • Management of vestibular schwannomas in patients with neurofibromatosis 2 (NF2) balances growth control against preservation of hearing with the primary aim of maintaining patient quality of life.
  • Previous studies on the efficacy of stereotactic radiosurgery for vestibular schwannomas in NF2 have reported results from delivery by Gamma Knife systems.
  • Modelling studies suggest that lesional conformality is superior with Gamma Knife, but clinical studies on sporadic vestibular schwannomas show equivalent results between the two systems.
  • Our experience with LINAC radiosurgery in NF2 reported here shows good long-term growth control in four patients with vestibular schwannomas.
  • [MeSH-major] Neurofibromatosis 2 / surgery. Neuroma, Acoustic / surgery. Radiosurgery / statistics & numerical data
  • [MeSH-minor] Adult. Brain Stem / pathology. Brain Stem / physiopathology. Brain Stem / surgery. Deafness / etiology. Deafness / physiopathology. Female. Humans. Magnetic Resonance Imaging. Male. Postoperative Complications / etiology. Postoperative Complications / physiopathology. Retrospective Studies. Treatment Outcome. Vestibular Nerve / pathology. Vestibular Nerve / physiopathology. Vestibular Nerve / radiation effects

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  • (PMID = 18403208.001).
  • [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; Comparative Study; Journal Article
  • [Publication-country] Scotland
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72. Buccoliero AM, Castiglione F, R Degl'Innocenti D, Gheri CF, Garbini F, Taddei A, Ammannati F, Mennonna P, Taddei GL: NF2 gene expression in sporadic meningiomas: relation to grades or histotypes real time-pCR study. Neuropathology; 2007 Feb;27(1):36-42
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  • [Title] NF2 gene expression in sporadic meningiomas: relation to grades or histotypes real time-pCR study.
  • One of the most common regions involved in the meningiomas tumorigenesis is chromosome 22q where the NF2 gene resides.
  • The deficiency or loss of the NF2 gene product, merlin/schwannomin, plays a role in tumor development and metastatization.
  • Several studies have indicated NF2 gene inactivation as an early tumorigenic event unrelated to the histological grade or clinical behavior.
  • On the contrary, the NF2 gene alteration rate differs between the different histotypes.
  • A pathogenesis independent from the NF2 gene has been suggested in meningothelial meningiomas.
  • In the present work, we studied the NF2 gene expression through real time-PCR (RT-PCR) in 30 meningiomas.
  • The average of the NF2 gene expression of all meningiomas was considered as reference value.
  • The average of expression of WHO grade I and II meningiomas was higher than the average of all meningiomas, whereas that of WHO grade III meningiomas was lower.
  • When we compared the NF2 gene expression in the different meningioma grades we did not note a significant difference (P = 0.698) despite the tendency to decrease from grade I to grade III.
  • The difference in NF2 gene expression between meningothelial and non-meningothelial meningiomas was statistically significant (P = 0.013).
  • Our data supports the finding that alterations in NF2 gene alteration are histotype related but not grade related.
  • [MeSH-major] Genes, Neurofibromatosis 2. Meningeal Neoplasms / genetics. Meningeal Neoplasms / pathology. Meningioma / genetics

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  • (PMID = 17319281.001).
  • [ISSN] 0919-6544
  • [Journal-full-title] Neuropathology : official journal of the Japanese Society of Neuropathology
  • [ISO-abbreviation] Neuropathology
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] Australia
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73. Lomas J, Bello MJ, Arjona D, Alonso ME, Martinez-Glez V, Lopez-Marin I, Amiñoso C, de Campos JM, Isla A, Vaquero J, Rey JA: Genetic and epigenetic alteration of the NF2 gene in sporadic meningiomas. Genes Chromosomes Cancer; 2005 Mar;42(3):314-9
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  • [Title] Genetic and epigenetic alteration of the NF2 gene in sporadic meningiomas.
  • The role of the NF2 gene in the development of meningiomas has recently been documented; inactivating mutations plus allelic loss at 22q, the site of this gene (at 22q12), have been identified in both sporadic and neurofibromatosis type 2-associated tumors.
  • Although epigenetic inactivation through aberrant CpG island methylation of the NF2 5' flanking region has been documented in schwannoma (another NF2-associated neoplasm), data on participation of this epigenetic modification in meningiomas are not yet widely available.
  • Using methylation-specific PCR (MSP) plus sequencing, we assessed the presence of aberrant promoter NF2 methylation in a series of 88 meningiomas (61 grade I, 24 grade II, and 3 grade III), in which the allelic constitution at 22q and the NF2 mutational status also were determined by RFLP/microsatellite and PCR-SSCP analyses.
  • Chromosome 22 allelic loss, NF2 gene mutation, and aberrant NF2 promoter methylation were detected in 49%, 24%, and 26% of cases, respectively.
  • Aberrant NF2 methylation with loss of heterozygosity (LOH) at 22q was found in five cases, and aberrant methylation with NF2 mutation in another; LOH 22q and the mutation were found in 16 samples.
  • The aberrant methylation of the NF2 gene also was the sole alteration in 15 samples, most of which were from grade I tumors.
  • These results indicate that aberrant NF2 hypermethylation may participate in the development of a significant proportion of sporadic meningiomas, primarily those of grade I.
  • [MeSH-major] Chromosome Aberrations. Chromosomes, Human, Pair 22. Genes, Neurofibromatosis 2 / physiology. Meningeal Neoplasms / genetics. Meningioma / genetics

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  • (PMID = 15609345.001).
  • [ISSN] 1045-2257
  • [Journal-full-title] Genes, chromosomes & cancer
  • [ISO-abbreviation] Genes Chromosomes Cancer
  • [Language] eng
  • [Publication-type] Journal Article; Research Support, Non-U.S. Gov't
  • [Publication-country] United States
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74. Dalgliesh GL, Furge K, Greenman C, Chen L, Bignell G, Butler A, Davies H, Edkins S, Hardy C, Latimer C, Teague J, Andrews J, Barthorpe S, Beare D, Buck G, Campbell PJ, Forbes S, Jia M, Jones D, Knott H, Kok CY, Lau KW, Leroy C, Lin ML, McBride DJ, Maddison M, Maguire S, McLay K, Menzies A, Mironenko T, Mulderrig L, Mudie L, O'Meara S, Pleasance E, Rajasingham A, Shepherd R, Smith R, Stebbings L, Stephens P, Tang G, Tarpey PS, Turrell K, Dykema KJ, Khoo SK, Petillo D, Wondergem B, Anema J, Kahnoski RJ, Teh BT, Stratton MR, Futreal PA: Systematic sequencing of renal carcinoma reveals inactivation of histone modifying genes. Nature; 2010 Jan 21;463(7279):360-3
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  • Furthermore, NF2 mutations were found in non-VHL mutated ccRCC, and several other probable cancer genes were identified.
  • These results indicate that substantial genetic heterogeneity exists in a cancer type dominated by mutations in a single gene, and that systematic screens will be key to fully determining the somatic genetic architecture of cancer.
  • [MeSH-major] Carcinoma, Renal Cell / genetics. Genes, Neurofibromatosis 2. Histone-Lysine N-Methyltransferase / genetics. Histones / metabolism. Kidney Neoplasms / genetics. Nuclear Proteins / genetics. Oxidoreductases, N-Demethylating / genetics

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  • (PMID = 20054297.001).
  • [ISSN] 1476-4687
  • [Journal-full-title] Nature
  • [ISO-abbreviation] Nature
  • [Language] eng
  • [Databank-accession-numbers] GEO/ GSE17895
  • [Grant] United Kingdom / Wellcome Trust / / 077012/Z/05/Z; United Kingdom / Wellcome Trust / / 082359; United Kingdom / Wellcome Trust / / 088340; United Kingdom / Wellcome Trust / / 093867; United Kingdom / Wellcome Trust / / 077012
  • [Publication-type] Journal Article; Research Support, Non-U.S. Gov't
  • [Publication-country] England
  • [Chemical-registry-number] 0 / Chromatin; 0 / Histones; 0 / Nuclear Proteins; EC 1.14.11.- / Histone Demethylases; EC 1.14.11.- / KDM5C protein, human; EC 1.14.11.- / UTX protein, human; EC 1.5.- / Oxidoreductases, N-Demethylating; EC 2.1.1.43 / Histone-Lysine N-Methyltransferase; EC 2.1.1.43 / Set2 protein, human
  • [Other-IDs] NLM/ PMC2820242; NLM/ UKMS28099
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75. Hennigan RF, Foster LA, Chaiken MF, Mani T, Gomes MM, Herr AB, Ip W: Fluorescence resonance energy transfer analysis of merlin conformational changes. Mol Cell Biol; 2010 Jan;30(1):54-67
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  • Neurofibromatosis type 2 is an inherited autosomal disorder caused by biallelic inactivation of the NF2 tumor suppressor gene.
  • The NF2 gene encodes a 70-kDa protein, merlin, which is a member of the ezrin-radixin-moesin (ERM) family.
  • Using these tools, we find that merlin exists predominately as a monomer in a stable, closed conformation that is mediated by the central alpha-helical domain.

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  • (PMID = 19884346.001).
  • [ISSN] 1098-5549
  • [Journal-full-title] Molecular and cellular biology
  • [ISO-abbreviation] Mol. Cell. Biol.
  • [Language] ENG
  • [Grant] United States / NCI NIH HHS / CA / R01 CA078524; United States / NCI NIH HHS / CA / R01-CA78524
  • [Publication-type] Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, Non-P.H.S.
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / Neurofibromin 2; 0 / Phosphoproteins; 0 / Sodium-Hydrogen Antiporter; 0 / sodium-hydrogen exchanger regulatory factor
  • [Other-IDs] NLM/ PMC2798298
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76. Sakai T, Vallejo MC, Shannon KT: A parturient with neurofibromatosis type 2: anesthetic and obstetric considerations for delivery. Int J Obstet Anesth; 2005 Oct;14(4):332-5
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  • [Title] A parturient with neurofibromatosis type 2: anesthetic and obstetric considerations for delivery.
  • Neurofibromatosis type 2 is an extremely rare form of neurofibromatosis characterized by central nervous system involvement with bilateral vestibular schwannomas and spinal tumors.
  • Anesthetic management of a parturient with neurofibromatosis type 2 has not been fully reported, and the condition is challenging to obstetric anesthesiologists due to the presence of intracranial and intraspinal canal neurofibromas.
  • We present a case of neurofibromatosis type 2 referred for delivery.
  • Because of central neuraxial involvement, regional anesthesia was avoided, and the patient delivered by cesarean section under general anesthesia.
  • The importance of pre-operative diagnosis and multidisciplinary management for neurofibromatosis type 2 is emphasized and anesthetic and obstetric considerations for delivery are presented.
  • [MeSH-major] Anesthesia, General. Anesthesia, Obstetrical. Central Nervous System Neoplasms. Cesarean Section. Neurofibromatosis 2. Pregnancy Complications, Neoplastic


77. Plouin PF, Gimenez-Roqueplo AP: Initial work-up and long-term follow-up in patients with phaeochromocytomas and paragangliomas. Best Pract Res Clin Endocrinol Metab; 2006 Sep;20(3):421-34
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  • Phaeochromocytomas and paragangliomas may be sporadic or the result of several genetic diseases: multiple endocrine neoplasia type 2, neurofibromatosis 1, von Hippel-Lindau disease, succinate dehydrogenase-phaeochromocytoma-paraganglioma syndrome.
  • Familial cases are diagnosed earlier and are more frequently bilateral and recurrent than sporadic cases.
  • Patients should be followed up indefinitely, particularly if they have familial or extra-adrenal tumours.
  • [MeSH-major] Paraganglioma / complications. Paraganglioma / diagnosis. Pheochromocytoma / complications. Pheochromocytoma / diagnosis
  • [MeSH-minor] Adrenal Gland Neoplasms / complications. Adrenal Gland Neoplasms / diagnosis. Adrenal Gland Neoplasms / radiography. Adrenal Gland Neoplasms / radionuclide imaging. Aftercare. Algorithms. Diagnostic Imaging. Follow-Up Studies. Humans. Perioperative Care. Prognosis

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  • (PMID = 16980203.001).
  • [ISSN] 1521-690X
  • [Journal-full-title] Best practice & research. Clinical endocrinology & metabolism
  • [ISO-abbreviation] Best Pract. Res. Clin. Endocrinol. Metab.
  • [Language] eng
  • [Publication-type] Journal Article; Review
  • [Publication-country] England
  • [Number-of-references] 70
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78. Ogasawara N, Sasaki M, Ishiguro H, Itoh Y, Nojiri S, Kubota E, Wada T, Kataoka H, Kuwabara Y, Joh T: Gastric schwannoma with adjacent external progression harbored aberrant NF2 gene. Dig Endosc; 2009 Jul;21(3):192-5
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  • [Title] Gastric schwannoma with adjacent external progression harbored aberrant NF2 gene.
  • We describe a schwannoma of gastric origin with adjacent external progression.
  • Histology and immunohistochemistry revealed the typical appearance of a gastric schwannoma.
  • Genetic evaluation revealed that the tumor harbored a point mutation in exon 6 of the tumor suppressor neurofibromatosis 2 (NF2) gene, which resulted in an amino acid substitution of NF2 protein, and no mutation in exon 4b of the NF1 gene.
  • In conclusion, we identified a rare mutation of the NF2 gene in gastric schwannoma.
  • A diagnosis can only be definitive when based on histological and immunohistochemical findings.
  • [MeSH-major] Neurilemmoma / genetics. Neurofibromatosis 2 / genetics. Stomach Neoplasms / genetics
  • [MeSH-minor] Disease Progression. Female. Humans. Middle Aged

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  • (PMID = 19691769.001).
  • [ISSN] 1443-1661
  • [Journal-full-title] Digestive endoscopy : official journal of the Japan Gastroenterological Endoscopy Society
  • [ISO-abbreviation] Dig Endosc
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] Australia
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79. Mathieu D, Kondziolka D, Flickinger JC, Niranjan A, Williamson R, Martin JJ, Lunsford LD: Stereotactic radiosurgery for vestibular schwannomas in patients with neurofibromatosis type 2: an analysis of tumor control, complications, and hearing preservation rates. Neurosurgery; 2007 Mar;60(3):460-8; discussion 468-70
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  • [Title] Stereotactic radiosurgery for vestibular schwannomas in patients with neurofibromatosis type 2: an analysis of tumor control, complications, and hearing preservation rates.
  • OBJECTIVE: Vestibular schwannomas present significant management challenges in patients with neurofibromatosis Type 2 (NF2).
  • Facial neuropathy occurred in 8% of tumors, trigeminal neuropathy occurred in 4%, and vestibular dysfunction occurred in 4%.
  • CONCLUSION: Stereotactic radiosurgery is a safe and effective management modality for neurofibromatosis Type 2 vestibular schwannomas.
  • [MeSH-major] Hearing Loss, Sensorineural / epidemiology. Hearing Loss, Sensorineural / prevention & control. Neurilemmoma / epidemiology. Neurilemmoma / surgery. Neurofibromatosis 2 / epidemiology. Neurofibromatosis 2 / surgery. Radiosurgery / statistics & numerical data


80. Suárez C, Rodrigo JP, Ferlito A, Cabanillas R, Shaha AR, Rinaldo A: Tumours of familial origin in the head and neck. Oral Oncol; 2006 Nov;42(10):965-78
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  • [Title] Tumours of familial origin in the head and neck.
  • Tumours of familial origin are a rare event in the head and neck but despite this, they deserve a growing interest.
  • Familial paragangliomas are most of the time limited to the paraganglionar system, but also may be part of different syndromic associations.
  • Multiple endocrine neoplasias type 1 are characterized by the simultaneous occurrence of at least two of the three main related endocrine tumours: parathyroid, enteropancreatic and anterior pituitary.
  • Multiple endocrine neoplasia type 2 is due to a germline mutation in the RET proto-oncogene.
  • The most central clinical difference with MEN-1 is that the associated cancer can be prevented or cured by early thyroidectomy in mutation carriers.
  • Individuals with neurofibomatosis type 1 present early in life with pigmentary abnormalities, skinfold freckling and iris hamartomas, as result of NF1 gene mutation.
  • Neurofibromatosis 2 is caused by inactivating mutations of the NF2 gene, and is characterized by the development of nervous system tumours (mainly bilateral vestibular schwannomas), ocular abnormalities, and skin tumours.
  • Finally, the high rate of p16 mutations in squamous cell carcinomas and the association of p16 with familial melanoma propose p16 as an ideal candidate gene predisposing to familial squamous cell carcinomas.
  • The elucidation of the cellular processes affected by dysfunction in familial tumours of the head and neck may serve to identify potential targets for future therapeutic interventions.
  • [MeSH-minor] Carcinoma, Squamous Cell / genetics. Humans. Multiple Endocrine Neoplasia / genetics. Nasopharyngeal Neoplasms / genetics. Neurofibromatoses / genetics. Paraganglioma / genetics

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  • (PMID = 16857415.001).
  • [ISSN] 1368-8375
  • [Journal-full-title] Oral oncology
  • [ISO-abbreviation] Oral Oncol.
  • [Language] eng
  • [Publication-type] Journal Article; Review
  • [Publication-country] England
  • [Number-of-references] 121
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81. Siddiqui MA, Leslie T, Scott C, Mackenzie J: Eyelid schwannoma in a male adult. Clin Exp Ophthalmol; 2005 Aug;33(4):412-3
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  • [Title] Eyelid schwannoma in a male adult.
  • Solitary lesions can occur sporadically in the general population but multiple neurofibromas are distinctive feature of neurofibromatosis type 1 and bilateral acoustic schwannomas are a feature of neurofibromatosis type 2.
  • Herein, a case of eyelid schwannoma in a 53-year-old man is described.

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  • (PMID = 16033357.001).
  • [ISSN] 1442-6404
  • [Journal-full-title] Clinical & experimental ophthalmology
  • [ISO-abbreviation] Clin. Experiment. Ophthalmol.
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] Australia
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82. Walter J, Kuhn SA, Brodhun M, Reichart R, Kalff R: Pulmonary meningioma and neurinoma associated with multiple CNS tumours in a patient with neurofibromatosis type 2. Clin Neurol Neurosurg; 2009 Jun;111(5):454-9
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  • [Title] Pulmonary meningioma and neurinoma associated with multiple CNS tumours in a patient with neurofibromatosis type 2.
  • OBJECTIVE: Neurofibromatosis type 2 (NF2) is a common neurocutaneous disorder that exhibits an autosomal dominant inheritance, with a mutation at chromosome 22q12.2.
  • In general, patients present bilateral vestibular schwannomas, meningiomas and neurinomas of the central and peripheral nervous system as well as neurofibromas and gliomas.
  • There is no reported case of pulmonary meningiomas and neurinomas associated with NF2 until now.
  • PATIENT AND METHODS: Here, we present a 16-year-old girl with NF-2 associated to CNS and pulmonary tumours and we discuss the case in the backlight of the literature.
  • RESULTS: The reported patient presented a de novo NF2 germline mutation (R341X) and displayed the Wishart-type of NF-2 since she is 11 years old, with a huge anaplastic biparietal falx meningioma and a tentorium meningioma and a tumour-associated parietal mass as well as hypacusis starting at the infant age of 3 years.
  • CONCLUSION: This rare case extends our knowledge of NF2 and also raises interesting questions about the pathogenesis of meningiomas outside the CNS.
  • [MeSH-major] Central Nervous System Neoplasms / pathology. Lung Neoplasms / secondary. Meningioma / secondary. Neurofibromatosis 2 / complications
  • [MeSH-minor] Brain / radiography. Brain Edema. Child. Female. Genes, Neurofibromatosis 2 / physiology. Germ-Line Mutation. Humans. Lung / pathology. Magnetic Resonance Imaging. Tomography, X-Ray Computed


83. Lau YK, Murray LB, Houshmandi SS, Xu Y, Gutmann DH, Yu Q: Merlin is a potent inhibitor of glioma growth. Cancer Res; 2008 Jul 15;68(14):5733-42
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • Neurofibromatosis 2 (NF2) is an inherited cancer syndrome in which affected individuals develop nervous system tumors, including schwannomas, meningiomas, and ependymomas.
  • The NF2 protein merlin (or schwannomin) is a member of the Band 4.1 superfamily of proteins, which serve as linkers between transmembrane proteins and the actin cytoskeleton.
  • In addition to mutational inactivation of the NF2 gene in NF2-associated tumors, mutations and loss of merlin expression have also been reported in other types of cancers.

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  • (PMID = 18632626.001).
  • [ISSN] 1538-7445
  • [Journal-full-title] Cancer research
  • [ISO-abbreviation] Cancer Res.
  • [Language] ENG
  • [Grant] United States / NCI NIH HHS / CA / 1F32CA128335-01A1; United States / NCI NIH HHS / CA / CA135158-02; United States / NCI NIH HHS / CA / R01 CA135158-02; United States / NCI NIH HHS / CA / CA135158-01A1; United States / NCI NIH HHS / CA / F32 CA128335; United States / NCI NIH HHS / CA / R01 CA135158-01A1; United States / NCI NIH HHS / CA / R01 CA135158; United States / NCI NIH HHS / CA / R01 CA150355
  • [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; 0 / Wnt Proteins
  • [Other-IDs] NLM/ NIHMS147652; NLM/ PMC2778036
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84. Skarzynski H, Lorens A, Kochanek K, Mrowka M, Behr R: Bilateral auditory brainstem implantation in a patient with neurofibromatosis type II. Cochlear Implants Int; 2010 Jun;11 Suppl 1:88-93
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Bilateral auditory brainstem implantation in a patient with neurofibromatosis type II.
  • [MeSH-major] Auditory Brain Stem Implantation / methods. Neurofibromatosis 2 / surgery. Neuroma, Acoustic / surgery. Neurosurgical Procedures / methods

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  • (PMID = 21756589.001).
  • [ISSN] 1754-7628
  • [Journal-full-title] Cochlear implants international
  • [ISO-abbreviation] Cochlear Implants Int
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] England
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85. James MF, Han S, Polizzano C, Plotkin SR, Manning BD, Stemmer-Rachamimov AO, Gusella JF, Ramesh V: NF2/merlin is a novel negative regulator of mTOR complex 1, and activation of mTORC1 is associated with meningioma and schwannoma growth. Mol Cell Biol; 2009 Aug;29(15):4250-61
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  • [Title] NF2/merlin is a novel negative regulator of mTOR complex 1, and activation of mTORC1 is associated with meningioma and schwannoma growth.
  • Inactivating mutations of the neurofibromatosis 2 (NF2) gene, NF2, result predominantly in benign neurological tumors, schwannomas and meningiomas, in humans; however, mutations in murine Nf2 lead to a broad spectrum of cancerous tumors.
  • The tumor-suppressive function of the NF2 protein, merlin, a membrane-cytoskeleton linker, remains unclear.
  • NF2 patient tumors and Nf2-deficient mouse embryonic fibroblasts demonstrate elevated mTORC1 signaling.
  • Conversely, the exogenous expression of wild-type merlin isoforms, but not a patient-derived L64P mutant, suppresses mTORC1 signaling.
  • In conclusion, the deregulation of mTORC1 activation underlies the aberrant growth and proliferation of NF2-associated tumors and may restrain the growth of these lesions through negative feedback mechanisms, suggesting that rapamycin in combination with phosphoinositide 3-kinase inhibitors may be therapeutic for NF2.

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  • (PMID = 19451225.001).
  • [ISSN] 1098-5549
  • [Journal-full-title] Molecular and cellular biology
  • [ISO-abbreviation] Mol. Cell. Biol.
  • [Language] ENG
  • [Grant] United States / NINDS NIH HHS / NS / P30 NS045776; United States / NINDS NIH HHS / NS / NS 045776; United States / NIMH NIH HHS / MH / R21 MH079213; United States / NIMH NIH HHS / MH / MH 079213; United States / NINDS NIH HHS / NS / P01 NS024279; United States / NCI NIH HHS / CA / R01 CA122617-04; United States / NINDS NIH HHS / NS / NS 024279; United States / NCI NIH HHS / CA / CA122617-04; United States / NCI NIH HHS / CA / R01 CA122617
  • [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 / Antibiotics, Antineoplastic; 0 / Multiprotein Complexes; 0 / Neurofibromin 2; 0 / Proteins; 0 / RNA, Small Interfering; 0 / Transcription Factors; 0 / mechanistic target of rapamycin complex 1; EC 2.7.1.- / Phosphatidylinositol 3-Kinases; EC 2.7.1.1 / TOR Serine-Threonine Kinases; EC 2.7.11.1 / Proto-Oncogene Proteins c-akt; W36ZG6FT64 / Sirolimus
  • [Other-IDs] NLM/ PMC2715803
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86. Hanemann CO, Bartelt-Kirbach B, Diebold R, Kämpchen K, Langmesser S, Utermark T: Differential gene expression between human schwannoma and control Schwann cells. Neuropathol Appl Neurobiol; 2006 Dec;32(6):605-14
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Differential gene expression between human schwannoma and control Schwann cells.
  • The NF2 gene encodes the tumour suppressor protein merlin.
  • The mutation of a single allele of this gene causes the autosomal dominantly inherited disease neurofibromatosis type 2 (NF2), which is characterized mainly by vestibular schwannoma carrying a second hit mutation.
  • As the events leading to schwannoma development are largely unknown we investigated the differences in gene expression between schwannoma cells from NF2 patients and normal human primary Schwann cells by cDNA array analysis.
  • By this method a total of seven genes with increased and seven genes with decreased mRNA levels in schwannoma compared with normal Schwann cells could be identified.
  • [MeSH-major] Gene Expression. Neurilemmoma / genetics. Neurofibromatosis 2 / genetics. Schwann Cells / physiology

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  • (PMID = 17083475.001).
  • [ISSN] 0305-1846
  • [Journal-full-title] Neuropathology and applied neurobiology
  • [ISO-abbreviation] Neuropathol. Appl. Neurobiol.
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] England
  • [Chemical-registry-number] 0 / RNA, Messenger
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87. 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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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [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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  • (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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88. Rowe J, Grainger A, Walton L, Radatz M, Kemeny A: Safety of radiosurgery applied to conditions with abnormal tumor suppressor genes. Neurosurgery; 2007 May;60(5):860-4; discussion 860-4
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • OBJECTIVE: To assess the risk of radiosurgery inducing malignancy in neurofibromatosis-2 (NF2) and von Hippel-Lindau disease.
  • METHODS: A retrospective cohort study of 118 NF2 and 19 von Hippel-Lindau disease patients, totalling 906 and 62 patient-years of follow-up data, respectively.
  • RESULTS: Two cases of intracranial malignancy were identified, both of which occurred in NF2 patients.
  • CONCLUSION: Because gliomas may occur in as many as 4% of NF2 patients, this may not represent an increased risk.
  • We continue to offer radiosurgery treatment to selected NF2 and von Hippel-Lindau disease patients and consider that the late risk of malignancy arising after irradiation must be put in the context of the condition being treated, the treatment options available to these individuals, and their life expectancy.
  • [MeSH-minor] Adult. Cohort Studies. Female. Follow-Up Studies. Humans. Male. Middle Aged. Neurofibromatosis 2 / epidemiology. Neurofibromatosis 2 / genetics. Neurofibromatosis 2 / surgery. Retrospective Studies. von Hippel-Lindau Disease / epidemiology. von Hippel-Lindau Disease / genetics. von Hippel-Lindau Disease / surgery

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  • (PMID = 17460521.001).
  • [ISSN] 1524-4040
  • [Journal-full-title] Neurosurgery
  • [ISO-abbreviation] Neurosurgery
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] United States
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89. Bouccara D, Kalamarides M, Bozorg Grayeli A, Ambert-Dahan E, Rey A, Sterkers O: [Auditory brainstem implant: indications and results]. Ann Otolaryngol Chir Cervicofac; 2007 Jul;124(3):148-54
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • OBJECTIVES: To summarize the indications and evaluate the Auditory Brainstem Implant (ABI) performances in neurofibromatosis type 2 (NF2) and other otologics indications, as postmeningitis ossified cochlea.
  • MATERIAL AND METHODS: Main and first indication of ABI is NF2.
  • Emergent indications are bilateral total ossified cochlea, vestibular schwannoma with controlateral lesions, cochlear nerve aplasia or inner ear's malformations.
  • RESULTS: In NF2 patients, best results are obtained in cases of smaller vestibular schwannoma and none, or short term, auditory deprivation.
  • CONCLUSION: These results show a clear benefit of ABI in NF2 patients, with or without previous tumor removal, in case of small tumor with a short duration of hearing loss.
  • [MeSH-minor] Brain / pathology. Calcinosis / etiology. Calcinosis / pathology. Cochlear Diseases / etiology. Cochlear Diseases / pathology. Cochlear Nerve / pathology. Cochlear Nerve / surgery. Electrodes, Implanted. Female. Humans. Magnetic Resonance Imaging. Middle Aged. Neurofibromatosis 2 / complications. Neuroma, Acoustic / complications. Neuroma, Acoustic / pathology. Neuroma, Acoustic / surgery

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  • (PMID = 17320034.001).
  • [ISSN] 0003-438X
  • [Journal-full-title] Annales d'oto-laryngologie et de chirurgie cervico faciale : bulletin de la Société d'oto-laryngologie des hôpitaux de Paris
  • [ISO-abbreviation] Ann Otolaryngol Chir Cervicofac
  • [Language] fre
  • [Publication-type] Case Reports; English Abstract; Journal Article
  • [Publication-country] France
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90. Rennie AT, Side L, Kerr RS, Anslow P, Pretorius P: Intramedullary tumours in patients with neurofibromatosis type 2: MRI features associated with a favourable prognosis. Clin Radiol; 2008 Feb;63(2):193-200
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Intramedullary tumours in patients with neurofibromatosis type 2: MRI features associated with a favourable prognosis.
  • AIM: To assess the magnetic resonance imaging (MRI) features and natural history of intramedullary tumours in patients with neurofibromatosis type 2 (NF2).
  • MATERIALS AND METHODS: Eleven NF2 patients with intramedullary spinal cord tumours were identified from the database of the multidisciplinary NF2 clinic.
  • CONCLUSION: The majority of intramedullary tumours in NF2 patients are very slow growing and share certain MRI features that differ from those of progressive or symptomatic lesions.
  • [MeSH-major] Neurofibromatosis 2 / diagnosis. Neuroma, Acoustic / diagnosis. Spinal Cord Neoplasms / diagnosis


91. 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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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [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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92. Simon M, Boström JP, Hartmann C: Molecular genetics of meningiomas: from basic research to potential clinical applications. Neurosurgery; 2007 May;60(5):787-98; discussion 787-98
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • Mutations in the NF2 gene probably account for the formation of more than half of all meningiomas.
  • On the other hand, the molecular events underlying the initiation of meningiomas without NF2 mutations have yet to be identified.

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  • (PMID = 17460514.001).
  • [ISSN] 1524-4040
  • [Journal-full-title] Neurosurgery
  • [ISO-abbreviation] Neurosurgery
  • [Language] eng
  • [Publication-type] Journal Article; Review
  • [Publication-country] United States
  • [Number-of-references] 119
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93. Trotter MI, Briggs RJ: Cochlear implantation in neurofibromatosis type 2 after radiation therapy. Otol Neurotol; 2010 Feb;31(2):216-9
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  • [Title] Cochlear implantation in neurofibromatosis type 2 after radiation therapy.
  • OBJECTIVE: To investigate the results of cochlear implantation in patients with neurofibromatosis Type 2 (NF2) who have previously been treated with radiation therapy to the vestibular schwannoma (VS) in their only hearing ear.
  • STUDY DESIGN: A retrospective review of the Melbourne Cochlear implant database was undertaken to identify patients with NF2 undergoing cochlear implantation in whom previous radiation therapy had been performed to control their VS (ipsilateral tumor).
  • CONCLUSION: Cochlear implantation results in improved hearing in a select group of NF2 patients who have undergone radiation treatment to control their vs.
  • [MeSH-major] Cochlear Implantation. Neurofibromatosis 2 / complications. Neurofibromatosis 2 / radiotherapy
  • [MeSH-minor] Adult. Aged, 80 and over. Communication. Ear Neoplasms / complications. Ear Neoplasms / radiotherapy. Female. Hearing Loss / etiology. Hearing Loss / therapy. Humans. Lipreading. Magnetic Resonance Imaging. Male. Middle Aged. Neuroma, Acoustic / complications. Neuroma, Acoustic / radiotherapy. Postoperative Complications / therapy. Radiosurgery. Recovery of Function. Retrospective Studies. Speech Perception. Treatment Outcome

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  • (PMID = 19887974.001).
  • [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] Case Reports; Journal Article
  • [Publication-country] United States
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94. Nakai Y, Zheng Y, MacCollin M, Ratner N: Temporal control of Rac in Schwann cell-axon interaction is disrupted in NF2-mutant schwannoma cells. J Neurosci; 2006 Mar 29;26(13):3390-5
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  • [Title] Temporal control of Rac in Schwann cell-axon interaction is disrupted in NF2-mutant schwannoma cells.
  • The neurofibromatosis type 2 (NF2) gene is commonly mutated in schwannomas, Schwann cell tumors that contain cells lacking axon interaction.
  • NF2 is involved in suppression of Rac signaling, and cultured schwannoma cells contain elevated, GTP-bound, active Rac.
  • Despite these previous studies, a causal relationship between Rac activation and the abnormal cellular morphology of schwannoma is unknown.
  • We used fluorescence resonance energy transfer to follow Rac activity in normal human Schwann cells and schwannoma cells during interaction with neurons.
  • Schwannoma cells showed high Rac activity at distal regions of the cells and failed to align processes with neurites.
  • Application of a Rac-specific inhibitor, the chemical compound NSC23766, to schwannoma cells restored neuronal interaction.

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  • (PMID = 16571745.001).
  • [ISSN] 1529-2401
  • [Journal-full-title] The Journal of neuroscience : the official journal of the Society for Neuroscience
  • [ISO-abbreviation] J. Neurosci.
  • [Language] ENG
  • [Grant] United States / NCI NIH HHS / CA / R01 CA118032; United States / NCI NIH HHS / CA / CA75824
  • [Publication-type] Journal Article; Research Support, N.I.H., Extramural
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / Neurofibromin 2; EC 3.6.5.2 / rac GTP-Binding Proteins
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95. McClatchey AI: Neurofibromatosis. Annu Rev Pathol; 2007;2:191-216
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Neurofibromatosis.
  • As familial cancer syndromes, the neurofibromatoses exhibit complex phenotypes, comprising a range of tumor and nontumor manifestations.
  • Although the three recognized forms of neurofibromatosis (NF1, NF2, and schwannomatosis) all feature the development of nervous system tumors, their underlying genetic bases are clearly distinct.
  • Recent progress in delineating the molecular function of the NF1- and NF2-encoded proteins, together with the development and use of manipulable mouse models, has led to important advances in understanding the pathogenesis of many features of neurofibromatosis.
  • An important outcome of the study of neurofibromatosis-associated tumorigenesis has been insight into the more general molecular and cellular bases of nervous system tumors.
  • [MeSH-major] Nervous System Neoplasms / pathology. Neurilemmoma / pathology. Neurofibromatosis 1 / pathology. Neurofibromatosis 2 / pathology
  • [MeSH-minor] Animals. Disease Models, Animal. Humans. Mice. Neurofibromin 1 / genetics. Neurofibromin 1 / metabolism. Neurofibromin 2 / genetics. Neurofibromin 2 / metabolism. Peripheral Nervous System / metabolism. Peripheral Nervous System / pathology. Schwann Cells / metabolism. Schwann Cells / pathology

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  • (PMID = 18039098.001).
  • [ISSN] 1553-4006
  • [Journal-full-title] Annual review of pathology
  • [ISO-abbreviation] Annu Rev Pathol
  • [Language] eng
  • [Grant] United States / NCI NIH HHS / CA / R01CA113733-01
  • [Publication-type] Journal Article; Research Support, N.I.H., Extramural; Research Support, U.S. Gov't, Non-P.H.S.; Review
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / Neurofibromin 1; 0 / Neurofibromin 2
  • [Number-of-references] 148
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96. Horan G, Whitfield GA, Burton KE, Burnet NG, Jefferies SJ: Fractionated conformal radiotherapy in vestibular schwannoma: early results from a single centre. Clin Oncol (R Coll Radiol); 2007 Sep;19(7):517-22
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  • [Title] Fractionated conformal radiotherapy in vestibular schwannoma: early results from a single centre.
  • AIMS: To assess the local control and cranial nerve toxicity in vestibular schwannoma patients treated with fractionated conformal radiotherapy delivered using a linear accelerator.
  • There were five neurofibromatosis type 2 patients treated, two of whom had useful hearing before radiotherapy.
  • CONCLUSION: Although follow-up was relatively short in this single institution series, fractionated linear accelerator radiotherapy gave excellent local control, useful hearing preservation and retained cranial nerve function in vestibular schwannoma.
  • [MeSH-minor] Adult. Aged. Aged, 80 and over. Cranial Nerves / radiation effects. Dose Fractionation. Female. Hearing / radiation effects. Humans. Male. Middle Aged. Neuroma, Acoustic. Stereotaxic Techniques

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  • (PMID = 17400433.001).
  • [ISSN] 0936-6555
  • [Journal-full-title] Clinical oncology (Royal College of Radiologists (Great Britain))
  • [ISO-abbreviation] Clin Oncol (R Coll Radiol)
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] England
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97. Laskin WB, Fetsch JF, Lasota J, Miettinen M: Benign epithelioid peripheral nerve sheath tumors of the soft tissues: clinicopathologic spectrum of 33 cases. Am J Surg Pathol; 2005 Jan;29(1):39-51
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  • Benign epithelioid peripheral nerve sheath tumors (BEPNSTs) have not been fully characterized, and their relationship to conventional schwannoma and neurofibroma has not been satisfactorily established.
  • Only one patient probably has neurofibromatosis type 1.
  • Immunohistochemical reactivity for Schwann cell-related markers in tumor cells included S-100 protein (20 of 20 cases), collagen type IV (10 of 10), laminin (8 of 8), nerve growth factor receptor, p75(7 of 8), CD57 (6 of 9), and glial fibrillary acidic protein (8 of 15).
  • The remaining 15 cases showed some histologic features suggestive of schwannoma, but their uniform cellularity, absence of nuclear palisading, and presence of a significant CD34-positive spindled cell population in 5 cases led to their classification as "BEPNST of indeterminate histogenesis."
  • Evaluation for loss of heterozygosity in 2 cases demonstrated deletion of genetic material on chromosome 22q and 17q involving NF2 and NF1 loci.
  • However, sequencing of NF2 coding sequences revealed no mutations.
  • Follow-up for 18 patients (median interval, 13.5 years), including 4 patients with tumors exhibiting cytologic atypia, revealed a nondestructive recurrence or persistent disease in 3 patients whose tumors lacked atypia, but no evidence of metastatic spread or tumor-related death.

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  • (PMID = 15613855.001).
  • [ISSN] 0147-5185
  • [Journal-full-title] The American journal of surgical pathology
  • [ISO-abbreviation] Am. J. Surg. Pathol.
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / Biomarkers, Tumor; 0 / DNA, Neoplasm; 0 / Neurofibromin 1; 0 / Neurofibromin 2
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98. Yang SM, Yu LM, Yu LM, Han DY: [Technique of hearing preservation during acoustic neuroma surgery]. Zhonghua Er Bi Yan Hou Tou Jing Wai Ke Za Zhi; 2008 Aug;43(8):564-9
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  • [Title] [Technique of hearing preservation during acoustic neuroma surgery].
  • OBJECTIVE: To explore the possibility of hearing protection in acoustic neurinoma (AN) resection and to evaluate the effect of dynamic auditory monitoring and the effect of oto-endoscope for hearing protection.
  • Fifteen cases were solitary AN, 3 cases were diagnosed as neurofibromatosis II.
  • RESULTS: In all 18 cases, tumors were resected completely in 16 cases, but sub-totally removed in 2 cases which were II neurofibromatosis.
  • According to House-Brackmann grade system, for 18 AN patients 7 days after operation only 50.0% (9/18) were kept at grade I to II , but 88.9% (16/18) were kept at grade I to II 6 months after operation.
  • [MeSH-major] Hearing Loss / prevention & control. Neuroma, Acoustic / surgery. Otologic Surgical Procedures

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  • (PMID = 18959258.001).
  • [ISSN] 1673-0860
  • [Journal-full-title] Zhonghua er bi yan hou tou jing wai ke za zhi = Chinese journal of otorhinolaryngology head and neck surgery
  • [ISO-abbreviation] Zhonghua Er Bi Yan Hou Tou Jing Wai Ke Za Zhi
  • [Language] chi
  • [Publication-type] English Abstract; Journal Article
  • [Publication-country] China
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99. Al-Anazi AH, Al-Luwimi IM, Shawarby MA, Mertol T: Mixed vestibular schwannoma and meningioma without neurofibromatosis. Neurosciences (Riyadh); 2009 Oct;14(4):371-3
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  • [Title] Mixed vestibular schwannoma and meningioma without neurofibromatosis.
  • The co-existence of meningioma and schwannoma as 2 distinct histologic components within the same tumor has been described in neurofibromatosis 2 (NF2), but the co-existence of both tumors without evidence of NF2 is much rarer.
  • Here, we are reporting a case of mixed schwannoma with meningioma without clinical evidence of NF2.
  • In an adult Saudi lady with progressive left-sided hearing loss, left cerebellopontine tumor was diagnosed by MRI, and the histopathological diagnosis revealed that this tumor was composed of vestibular schwannoma and meningioma.

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  • (PMID = 21048654.001).
  • [ISSN] 1319-6138
  • [Journal-full-title] Neurosciences (Riyadh, Saudi Arabia)
  • [ISO-abbreviation] Neurosciences (Riyadh)
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] Saudi Arabia
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100. Ng YS, Lyons CJ: Oculomotor nerve palsy in childhood. Can J Ophthalmol; 2005 Oct;40(5):645-53
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  • BACKGROUND: The management of children with oculomotor nerve palsy is complicated by their variable presentation, amblyopia, potential loss of binocularity, and associated neurological disease.
  • Primary aberrant regeneration was the presenting sign in a child with neurofibromatosis type 2.

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  • (PMID = 16391633.001).
  • [ISSN] 0008-4182
  • [Journal-full-title] Canadian journal of ophthalmology. Journal canadien d'ophtalmologie
  • [ISO-abbreviation] Can. J. Ophthalmol.
  • [Language] ENG
  • [Publication-type] Journal Article
  • [Publication-country] England
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