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1. Mautner VF, Nguyen R, Kutta H, Fuensterer C, Bokemeyer C, Hagel C, Friedrich RE, Panse J: Bevacizumab induces regression of vestibular schwannomas in patients with neurofibromatosis type 2. Neuro Oncol; 2010 Jan;12(1):14-8
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  • [Title] Bevacizumab induces regression of vestibular schwannomas in patients with neurofibromatosis type 2.
  • Bilateral vestibular schwannomas are the hallmark of neurofibromatosis type 2 (NF2), and these tumors impair hearing and frequently lead to deafness.
  • Neurosurgical intervention, the only established treatment, often damages the vestibular nerve.
  • We report 2 cases in which treatment with bevacizumab (for 3 months in one case and 6 months in the other) induced regression of progressive vestibular schwannomas by more than 40% and substantially improved hearing in the patient treated for 6 months.
  • Bevacizumab therapy may thus provide an effective treatment for progressive vestibular schwannomas in patients with NF2.
  • [MeSH-major] Antibodies, Monoclonal / therapeutic use. Antineoplastic Agents / therapeutic use. Neurofibromatosis 2 / drug therapy. Neuroma, Acoustic / drug therapy

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  • (PMID = 20150363.001).
  • [ISSN] 1523-5866
  • [Journal-full-title] Neuro-oncology
  • [ISO-abbreviation] Neuro-oncology
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / Antibodies, Monoclonal; 0 / Antibodies, Monoclonal, Humanized; 0 / Antineoplastic Agents; 2S9ZZM9Q9V / Bevacizumab
  • [Other-IDs] NLM/ PMC2940556
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2. Morales FC, Molina JR, Hayashi Y, Georgescu MM: Overexpression of ezrin inactivates NF2 tumor suppressor in glioblastoma. Neuro Oncol; 2010 Jun;12(6):528-39
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Overexpression of ezrin inactivates NF2 tumor suppressor in glioblastoma.
  • We report that the cytoskeletal-related proteins neurofibromatosis type 2 (NF2) and ezrin have opposite yet interdependent activities in glioblastoma growth.
  • We show that NF2 is absent in approximately one-third of glioblastoma cell lines and tumors, and that it suppresses growth when expressed in cells.
  • Although ezrin overexpression was previously observed in glioblastoma, we show here that ezrin enhanced cell proliferation and anchorage-independent growth but only in cells expressing NF2.
  • Ezrin interacted and delocalized NF2 from the cortical compartment releasing its inhibition on Rac1.
  • By using swap NF2-ezrin molecules, we identified that the opposite effects on cell growth of NF2 and ezrin depend on their amino-terminal FERM domain.
  • The subcellular cortical localization appeared important for NF2 suppressive activity.
  • In contrast, the ability of ezrin to enhance growth or complex NF2 did not depend on the molecular conformation or subcellular localization.
  • In conclusion, these studies show 2 mechanisms for NF2 inactivation in glioblastoma: (i) decreased protein expression and (ii) increasing dosages of ezrin that disable NF2 by intermolecular association and aberrant intracellular recruitment.

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  • (PMID = 20156804.001).
  • [ISSN] 1523-5866
  • [Journal-full-title] Neuro-oncology
  • [ISO-abbreviation] Neuro-oncology
  • [Language] ENG
  • [Grant] United States / NCI NIH HHS / CA / NCI-CA107201; United States / NCI NIH HHS / CA / NCI-CA16672
  • [Publication-type] Comparative Study; Journal Article; Research Support, N.I.H., Extramural
  • [Publication-country] England
  • [Chemical-registry-number] 0 / Cytoskeletal Proteins; 0 / Neurofibromin 2; 0 / ezrin
  • [Other-IDs] NLM/ PMC2940645
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3. Diebold R, Bartelt-Kirbach B, Evans DG, Kaufmann D, Hanemann CO: Sensitive detection of deletions of one or more exons in the neurofibromatosis type 2 (NF2) gene by multiplexed gene dosage polymerase chain reaction. J Mol Diagn; 2005 Feb;7(1):97-104
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  • [Title] Sensitive detection of deletions of one or more exons in the neurofibromatosis type 2 (NF2) gene by multiplexed gene dosage polymerase chain reaction.
  • Mutation detection in the neurofibromatosis type 2 (NF2) gene is challenging because when combining mutation detection methods such as single-strand conformational polymorphism and heteroduplex analysis, denaturing gradient gel electrophoresis, and direct sequencing of aberrant polymerase chain reaction (PCR) fragments only 30 to 60% of the constitutional mutations are detected.
  • The one type of mutation often missed corresponds to deletions encompassing one or few exons.
  • To detect this type we have developed a swift and reliable method.
  • We perform a gene dosage analysis with two fluorescent multiplex PCR assays that amplify 15 of the 17 NF2 exons.
  • We tested the reliability of this method with DNA from eight NF2 patients with known heterozygous NF2 deletions, eight controls and four unknown NF2 patients.
  • In one NF2 patient with previously unknown mutation and a severe phenotype we found the gene dosage of two exons reduced by 50% indicating a deletion of these two exons on one allele.
  • This finding was validated by reverse transcriptase-PCR on fibroblast and schwannoma cell cultures of this patient and cDNA sequencing.
  • [MeSH-major] DNA Mutational Analysis / methods. Genes, Neurofibromatosis 2. Neurofibromatosis 2 / diagnosis. Sequence Deletion

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  • (PMID = 15681480.001).
  • [ISSN] 1525-1578
  • [Journal-full-title] The Journal of molecular diagnostics : JMD
  • [ISO-abbreviation] J Mol Diagn
  • [Language] eng
  • [Publication-type] Evaluation Studies; Journal Article; Research Support, Non-U.S. Gov't
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / Neurofibromin 2
  • [Other-IDs] NLM/ PMC1867500
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4. Golovnina K, Blinov A, Akhmametyeva EM, Omelyanchuk LV, Chang LS: Evolution and origin of merlin, the product of the Neurofibromatosis type 2 (NF2) tumor-suppressor gene. BMC Evol Biol; 2005;5:69
NCI CPTC Antibody Characterization Program. NCI CPTC Antibody Characterization Program .

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Evolution and origin of merlin, the product of the Neurofibromatosis type 2 (NF2) tumor-suppressor gene.
  • BACKGROUND: Merlin, the product of the Neurofibromatosis type 2 (NF2) tumor suppressor gene, belongs to the ezrin-radixin-moesin (ERM) subgroup of the protein 4.1 superfamily, which links cell surface glycoproteins to the actin cytoskeleton.
  • Secondary structure prediction reveals the presence of a conserved alpha-helical domain in the central to C-terminal region of the merlin proteins of various species.
  • [MeSH-minor] Actins / chemistry. Actins / metabolism. Amino Acid Sequence. Animals. Binding Sites. Ciona intestinalis. Computational Biology. Drosophila. Exons. Fishes. Genome. Humans. Introns. Molecular Sequence Data. Multigene Family. Neurofibromatosis 2. Phosphorylation. Phylogeny. Protein Conformation. Protein Structure, Secondary. Protein Structure, Tertiary. Sequence Homology, Amino Acid. Serine / chemistry

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  • (PMID = 16324214.001).
  • [ISSN] 1471-2148
  • [Journal-full-title] BMC evolutionary biology
  • [ISO-abbreviation] BMC Evol. Biol.
  • [Language] eng
  • [Publication-type] Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, Non-P.H.S.
  • [Publication-country] England
  • [Chemical-registry-number] 0 / Actins; 0 / Neurofibromin 2; 452VLY9402 / Serine
  • [Other-IDs] NLM/ PMC1315344
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5. Baser ME, Kuramoto L, Woods R, Joe H, Friedman JM, Wallace AJ, Ramsden RT, Olschwang S, Bijlsma E, Kalamarides M, Papi L, Kato R, Carroll J, Lázaro C, Joncourt F, Parry DM, Rouleau GA, Evans DG: The location of constitutional neurofibromatosis 2 (NF2) splice site mutations is associated with the severity of NF2. J Med Genet; 2005 Jul;42(7):540-6
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  • [Title] The location of constitutional neurofibromatosis 2 (NF2) splice site mutations is associated with the severity of NF2.
  • Neurofibromatosis 2 (NF2) patients with constitutional splice site NF2 mutations have greater variability in disease severity than NF2 patients with other types of mutations; the cause of this variability is unknown.
  • We evaluated genotype-phenotype correlations, with particular focus on the location of splice site mutations, using mutation and clinical information on 831 patients from 528 NF2 families with identified constitutional NF2 mutations.
  • The clinical characteristics examined were age at onset of symptoms of NF2 and number of intracranial meningiomas, which are the primary indices of the severity of NF2.
  • People with splice site mutations in exons 1-5 had more severe disease than those with splice site mutations in exons 11-15.
  • This result is compatible with studies showing that exons 2 and 3 are required for self-association of the amino terminal of the NF2 protein in vitro, and that deletions of exons 2 and 3 in transgenic and knockout mouse models of NF2 cause a high prevalence of Schwann cell derived tumours.
  • [MeSH-major] Alternative Splicing / genetics. Mutation / genetics. Neurofibromatosis 2 / genetics. Neurofibromin 2 / genetics. Severity of Illness Index

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  • (PMID = 15994874.001).
  • [ISSN] 1468-6244
  • [Journal-full-title] Journal of medical genetics
  • [ISO-abbreviation] J. Med. Genet.
  • [Language] eng
  • [Publication-type] Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, Non-P.H.S.; Review
  • [Publication-country] England
  • [Chemical-registry-number] 0 / Neurofibromin 2
  • [Number-of-references] 54
  • [Other-IDs] NLM/ PMC1736092
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6. Evans DG: Neurofibromatosis 2 [Bilateral acoustic neurofibromatosis, central neurofibromatosis, NF2, neurofibromatosis type II]. Genet Med; 2009 Sep;11(9):599-610
Genetic Alliance. consumer health - Neurofibromatosis type 2.

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Neurofibromatosis 2 [Bilateral acoustic neurofibromatosis, central neurofibromatosis, NF2, neurofibromatosis type II].
  • Neurofibromatosis 2 is a dominantly inherited tumor predisposition syndrome caused by mutations in the NF2 gene on chromosome 22.
  • Affected individuals inevitably develop schwannomas typically affecting both vestibular nerves leading to deafness.
  • In excess of 50% of patients represent new mutations and as many as one third are mosaic for the underlying disease causing mutation.
  • Although truncating mutations (nonsense and frameshifts) are the most frequent germline event and cause the most severe disease, single and multiple exon deletions are common.
  • NF2 represents a difficult management problem with most patients facing substantial morbidity and reduced life expectancy.
  • [MeSH-major] Genes, Neurofibromatosis 2. Neurofibromatosis 2 / diagnosis. Neurofibromatosis 2 / genetics
  • [MeSH-minor] Diagnosis, Differential. Genetic Counseling. Genetic Testing. Humans. Prenatal Diagnosis

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  • (PMID = 19652604.001).
  • [ISSN] 1530-0366
  • [Journal-full-title] Genetics in medicine : official journal of the American College of Medical Genetics
  • [ISO-abbreviation] Genet. Med.
  • [Language] eng
  • [Publication-type] Journal Article; Research Support, Non-U.S. Gov't; Review
  • [Publication-country] United States
  • [Number-of-references] 85
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7. Feucht M, Mautner VF, Richard G: [NF2: ocular, neural and genetic manifestations]. Klin Monbl Augenheilkd; 2005 Apr;222(4):312-6
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] [NF2: ocular, neural and genetic manifestations].
  • [Transliterated title] NF2: Okuläre, neurale und genetische Befunde.
  • Neurofibromatosis 2 is an autosomal-dominant disease, which is characterized by vestibular schwannomas, cataract, retinal hamartomas as well as tumors of the peripheral and central nerve system, demonstrating a variety of expression.
  • The ophthalmologist plays an important role in making the diagnosis, as several ocular manifestations may be shown during childhood, before tumors of the central nerve system become symptomatic.
  • An early diagnosis of NF 2 may prevent deafness by early surgical intervention.
  • Neuropathy may lead to vestibular disturbances and loss of muscle control.
  • The human NF2 gene was cloned from chromosome 22 in 1993.
  • Geno-phenotype correlations allow some predictions of the course of the disease to be made.
  • [MeSH-major] Central Nervous System Neoplasms / diagnosis. Hamartoma / diagnosis. Neurofibromatosis 2 / diagnosis. Retinal Diseases / diagnosis
  • [MeSH-minor] Adolescent. Adult. Age Factors. Child. Cranial Nerve Diseases / diagnosis. Cranial Nerve Diseases / genetics. DNA Mutational Analysis. Diagnosis, Differential. Genotype. Humans. Neuroma, Acoustic / diagnosis. Neuroma, Acoustic / genetics. Patient Care Team. Phenotype. Referral and Consultation

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  • (PMID = 15844040.001).
  • [ISSN] 0023-2165
  • [Journal-full-title] Klinische Monatsblätter für Augenheilkunde
  • [ISO-abbreviation] Klin Monbl Augenheilkd
  • [Language] ger
  • [Publication-type] English Abstract; Journal Article; Review
  • [Publication-country] Germany
  • [Number-of-references] 34
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8. Pascual-Castroviejo I, Pascual-Pascual SI, Viaño J: [Neurofibromatosis type 2 (NF2). Study of 7 patients]. Neurologia; 2009 Sep;24(7):457-61
Genetic Alliance. consumer health - Neurofibromatosis type 2.

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] [Neurofibromatosis type 2 (NF2). Study of 7 patients].
  • [Transliterated title] Neurofibromatosis tipo 2 (NF2). Estudio de 7 pacientes.
  • OBJECTIVE: The aim of this paper is to present the cases of 7 young children and young adult with type 2 neurofibromatosis (NF2).
  • In 5 patients, the symptoms because around the time of the diagnosis while 2 patients, who had no previous symptoms, were diagnosed by MRI after undergoing the test because a parent had been diagnosed of NF2 by MRI.
  • RESULTS: All 7 patients had bilateral vestibular schwannomas (VS) and only two had no associated intracranial and/or spinal tumors.
  • Deafness was the common sequel in all operated cases, associated with permanent bilateral facial paralysis in one and unilateral facial parenthesis in another.
  • CONCLUSION: A comparison of our series of NF1 and NF2 cases shows that the ratio of NF2:NF1 in childhood is approximately 1:100, and that the clinical features of NF2 are considerably more severe than in NF1.
  • [MeSH-major] Neurofibromatosis 2 / pathology
  • [MeSH-minor] Adolescent. Adult. Child. Child, Preschool. Female. Humans. Magnetic Resonance Imaging. Male. Neurofibromatosis 1 / diagnosis. Neurofibromatosis 1 / genetics. Neurofibromatosis 1 / pathology. Young Adult

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  • (PMID = 19921555.001).
  • [ISSN] 0213-4853
  • [Journal-full-title] Neurología (Barcelona, Spain)
  • [ISO-abbreviation] Neurologia
  • [Language] spa
  • [Publication-type] English Abstract; Journal Article
  • [Publication-country] Spain
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9. Demange L, De Moncuit C, Thomas G, Olschwang S: [Phenotype-genotype study in 154 French NF2 mutation carriers]. Rev Neurol (Paris); 2007 Nov;163(11):1031-8

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] [Phenotype-genotype study in 154 French NF2 mutation carriers].
  • [Transliterated title] Analyse phénotypique de 154 patients porteurs d'une mutation constitutionnelle du gène NF2.
  • INTRODUCTION: Germline mutations in the NF2 gene are responsible for 80 p.cent of neurofibromatosis type 2 typical cases.
  • To assess whether the phenotypic variability of neurofibromatosis 2 could be linked to genotype, clinical data of 154 patients whose NF2 germline alteration had been identified in our laboratory have been collected.
  • RESULTS: In French patients, type of mutation was correlated neither with patients' sex, nor with disease occurrence mode (de novo or inherited mutation).
  • Disease associated with missense mutations occurred later, with a less severe symptomatology.
  • Patients with nonsense or frameshift mutations were more frequently affected with meningiomas and spinal tumours, in addition to VIII nerve schwannomas, an observation that underlies the genetic determination of the number and type of NF2-related tumours.
  • CONCLUSION: Results from the literature as well as from our study tend to show that only few correlations exist between genotype and phenotype in the NF2 disease.
  • Therefore, NF2 gene screening keeps its indications in both typical and moderate forms of the disease.
  • Mutations are responsible of 80 p.cent of typical forms; in moderate forms, identification of a missense mutation seems linked to a lower disease evolution.
  • Finally, in a small number of cases, the NF2 gene appears to be implicated in clinical forms different from those defined by NIH and it might be of interest to enlarge the clinical features suggestive of the disease.
  • [MeSH-major] Genes, Neurofibromatosis 2 / physiology. Heterozygote. Neurofibromatosis 2 / genetics. Neurofibromatosis 2 / physiopathology

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  • (PMID = 18033041.001).
  • [ISSN] 0035-3787
  • [Journal-full-title] Revue neurologique
  • [ISO-abbreviation] Rev. Neurol. (Paris)
  • [Language] fre
  • [Publication-type] English Abstract; Journal Article
  • [Publication-country] France
  • [Chemical-registry-number] 0 / Codon, Nonsense
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10. Kullar PJ, Pearson DM, Malley DS, Collins VP, Ichimura K: CpG island hypermethylation of the neurofibromatosis type 2 (NF2) gene is rare in sporadic vestibular schwannomas. Neuropathol Appl Neurobiol; 2010 Oct;36(6):505-14
MedlinePlus Health Information. consumer health - Acoustic Neuroma.

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] CpG island hypermethylation of the neurofibromatosis type 2 (NF2) gene is rare in sporadic vestibular schwannomas.
  • AIMS: Loss of both wild-type copies of the neurofibromatosis type 2 (NF2) gene is found in both sporadic and neurofibromatosis type 2-associated vestibular schwannomas (VS).
  • Previous studies have identified a subset of VS with no loss or mutation of NF2.
  • We hypothesized that methylation of NF2 resulting in gene silencing may play a role in such tumours.
  • The NF2 genes were sequenced and methylation of NF2 examined by pyrosequencing.
  • Twelve tumours had NF2 mutations.
  • Eight tumours had complete loss of wild-type NF2, four had one mutated and one wild-type allele, 11 had only one wild-type allele and 17 showed no abnormalities.
  • CONCLUSIONS: This study shows that a significant proportion of sporadic VS (>40%) have unmethylated wild-type NF2 genes.
  • [MeSH-major] CpG Islands / genetics. DNA Methylation / genetics. Genes, Neurofibromatosis 2. Neuroma, Acoustic / genetics

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  • [Copyright] © 2010 The Authors. Neuropathology and Applied Neurobiology © 2010 British Neuropathological Society.
  • (PMID = 20831745.001).
  • [ISSN] 1365-2990
  • [Journal-full-title] Neuropathology and applied neurobiology
  • [ISO-abbreviation] Neuropathol. Appl. Neurobiol.
  • [Language] eng
  • [Publication-type] Journal Article; Research Support, Non-U.S. Gov't
  • [Publication-country] England
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11. Chihara Y, Ito K, Sugasawa K, Shin M: Neurological complications after acoustic neurinoma radiosurgery: revised risk factors based on long-term follow-up. Acta Otolaryngol Suppl; 2007 Dec;(559):65-70
MedlinePlus Health Information. consumer health - After Surgery.

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Neurological complications after acoustic neurinoma radiosurgery: revised risk factors based on long-term follow-up.
  • CONCLUSIONS: The precise risk factors for neurological complications after acoustic neurinoma radiosurgery were identified on long-term follow-up.
  • Type 2 neurofibromatosis was found to be a risk factor for hearing loss and peripheral tumor dose was a risk factor for seventh and fifth cranial nerve injuries.
  • PATIENTS AND METHODS: Between June 1990 and September 1998, 138 patients with acoustic neurinomas had SRS at Tokyo University Hospital.
  • The variables analyzed were age, gender, prior operation, neurofibromatosis type 2 (NF2), tumor diameter, maximum tumor dose, peripheral tumor irradiation dose, and the number of isocenters.
  • RESULTS: NF2 was significantly correlated with both total hearing loss and pure tone threshold (PTA) elevation; a history of prior surgical resection, tumor size, and the peripheral tumor dose were significantly correlated with facial palsy; and the peripheral tumor dose was significantly correlated with trigeminal neuropathy.
  • [MeSH-major] Neuroma, Acoustic / surgery. Postoperative Complications
  • [MeSH-minor] Adolescent. Adult. Aged. Facial Nerve Injuries / epidemiology. Facial Nerve Injuries / etiology. Female. Follow-Up Studies. Hearing Disorders / epidemiology. Hearing Disorders / etiology. Humans. Male. Middle Aged. Neurofibromatosis 2 / epidemiology. Neurofibromatosis 2 / etiology. Prevalence. Radiosurgery / instrumentation. Risk Factors. Trigeminal Nerve Diseases / epidemiology. Trigeminal Nerve Diseases / etiology

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  • (PMID = 18340560.001).
  • [ISSN] 0365-5237
  • [Journal-full-title] Acta oto-laryngologica. Supplementum
  • [ISO-abbreviation] Acta Otolaryngol Suppl
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] Norway
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12. Baser ME, Rai H, Wallace AJ, Evans DG: Neurofibromatosis 2 (NF2) and malignant mesothelioma in a man with a constitutional NF2 missense mutation. Fam Cancer; 2005;4(4):321-2
SciCrunch. Clinical Genomic Database: Data: Gene Annotation .

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Neurofibromatosis 2 (NF2) and malignant mesothelioma in a man with a constitutional NF2 missense mutation.
  • Neurofibromatosis 2 (NF2) is caused by inactivating mutations of the NF2 tumor suppressor gene.
  • Somatic NF2 mutations also occur in a high proportion of human primary malignant mesotheliomas.
  • We report an elderly man with NF2, malignant mesothelioma, and a constitutional NF2 missense mutation.
  • The long latent period for mesothelioma in this patient (61 years) raises the possibility that the type of mutant NF2 allele could affect mesothelioma tumorigenesis or progression.
  • [MeSH-major] Genes, Neurofibromatosis 2. Mesothelioma / complications. Mesothelioma / genetics. Neurofibromatosis 2 / genetics. Occupational Exposure / adverse effects. Pleural Neoplasms / genetics
  • [MeSH-minor] Aged. Asbestos / adverse effects. Humans. Male. Mutation, Missense. Neuroma, Acoustic / etiology. Polymerase Chain Reaction


13. Hanemann CO, Diebold R, Kaufmann D: Role of NF2 haploinsufficiency in NF2-associated polyneuropathy. Brain Pathol; 2007 Oct;17(4):371-6

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Role of NF2 haploinsufficiency in NF2-associated polyneuropathy.
  • Neurofibromatosis 2 (NF2) is a hereditary tumor disease characterized by bilateral vestibular schwannomas.
  • Polyneuropathy seems to occur quite frequently in NF2 and in most cases, the etiology of this neuropathy is unclear, especially when the neuropathy is symmetric.
  • NF2 is believed to follow the two-hit hypothesis.
  • The second hit most frequently is a loss of the NF2 locus, often the entire chromosome 22.
  • We set out to investigate the underlying genetics in peripheral nerve of NF2 patients with polyneuropathy.
  • We identified NF2 patients with polyneuropathy in which we could detect the germline mutation and analyzed NF2 gene dosage in archived nerve biopsies from these patients using a newly developed method.
  • We observed merlin haploinsufficiency in peripheral nerves of two different patients with NF2-related polyneuropathy.
  • This finding was further supported by showing that approximately 50% merlin expression in a cell line using shRNA results in altered gene expression as previously shown in schwannomas.
  • Thus, we suggest that reduced merlin gene dosage is relevant in NF2-associated polyneuropathy.
  • [MeSH-major] Gene Dosage / genetics. Genetic Predisposition to Disease / genetics. Neurofibromatosis 2 / complications. Neurofibromatosis 2 / genetics. Neurofibromin 2 / genetics. Polyneuropathies / genetics

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  • (PMID = 17655741.001).
  • [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 / Genetic Markers; 0 / Neurofibromin 2
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14. Shehaby AE, Ganz JC, Reda WA, Hafez A: Mechanisms of edema after gamma knife surgery for meningiomas. J Neurosurg; 2005 Jan;102(s_supplement):1-3

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • One had neurofibromatosis Type 2 with multiple tumors, one of which was parasagittal.

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  • (PMID = 28306444.001).
  • [ISSN] 1933-0693
  • [Journal-full-title] Journal of neurosurgery
  • [ISO-abbreviation] J. Neurosurg.
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] United States
  • [Keywords] NOTNLM ; complications / dexamethasone / gamma knife surgery / meningioma
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15. Plotkin SR, Singh M, Cai W, O'Donnell C, Esparza S, Smith MJ, Harris GJ, Muzikansky A, Bredella MA, Kassarjian A: Whole-body MRI evaluation of tumor burden in the neurofibromatosis tumor suppressor syndromes. J Clin Oncol; 2009 May 20;27(15_suppl):2074

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Whole-body MRI evaluation of tumor burden in the neurofibromatosis tumor suppressor syndromes.
  • : 2074 Background: Neurofibromatosis 1 (NF1), NF2, and schwannomatosis are a group of related genetic disorders in which affected individuals share the predisposition to develop multiple neurofibromas and schwannomas.
  • METHODS: We performed WBMRI in subjects with NF1, NF2, or schwannomatosis as part of an IRB-approved research study.
  • The number and type of tumors (discrete vs. plexiform) were identified by a board-certified radiologist and tumor volume was calculated using semi-automated analysis.
  • RESULTS: A total of 100 subjects were imaged (NF1-50; NF2-25, schwannomatosis-25).
  • CONCLUSIONS: WBMRI scan is a powerful tool to evaluate the number, size, and distribution of internal tumors in patients with neurofibromatosis.
  • This technique provides unique phenotypic information for genetic studies on NF1, NF2, and schwannomatosis.

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  • (PMID = 27964382.001).
  • [ISSN] 1527-7755
  • [Journal-full-title] Journal of clinical oncology : official journal of the American Society of Clinical Oncology
  • [ISO-abbreviation] J. Clin. Oncol.
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] United States
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16. Wowra B, Muacevic A, Jess-Hempen A, Hempel JM, Müller-Schunk S, Tonn JC: Outpatient gamma knife surgery for vestibular schwannoma: definition of the therapeutic profile based on a 10-year experience. J Neurosurg; 2005 Jan;102(s_supplement):114-118

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Outpatient gamma knife surgery for vestibular schwannoma: definition of the therapeutic profile based on a 10-year experience.
  • OBJECT: The purpose of the study was to define the therapeutic profile of outpatient gamma knife surgery (GKS) for vestibular schwannoma (VS) by using sequential tumor volumetry to quantify changes following treatment.
  • Thirty-seven patients (33%) had undergone surgery before GKS and 10 (9%) had neurofibromatosis Type 2 (NF2).
  • Recurrence was significantly associated with NF2 (p < 0.003) and the reduced dose (p < 0.03) delivered to these tumors.
  • Trigeminal neuropathy occurred in 13 patients, and this was correlated with the VS volume (p < 0.02).
  • The risk of hearing loss was correlated with age and transient tumor swelling (p < 0.05) but not with dose parameters or NF2.

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  • (PMID = 28306422.001).
  • [ISSN] 1933-0693
  • [Journal-full-title] Journal of neurosurgery
  • [ISO-abbreviation] J. Neurosurg.
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] United States
  • [Keywords] NOTNLM ; gamma knife surgery / tumor volumetry / vestibular schwannoma
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17. Inoue HK: Low-dose radiosurgery for large vestibular schwannomas: long-term results of functional preservation. J Neurosurg; 2005 Jan;102(s_supplement):111-113

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Low-dose radiosurgery for large vestibular schwannomas: long-term results of functional preservation.
  • OBJECT: The author conducted a study to assess the long-term results obtained in patients who underwent GKS for large vestibular schwannomas (> cochlear nerve functions were evaluated.
  • METHODS: Twenty consecutive large tumors in 18 patients (including two cases of neurofibromatosus Type 2 [NF2]) were followed for more than 6 years.
  • Four patients (including one with NF2) died during the follow-up period of other diseases or by accident.
  • CONCLUSIONS: Gamma knife surgery seems to have a place in the low-dose treatment of selected large vestibular schwannoma in patients with a reasonable chance of retaining facial function and pretreatment hearing level.

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  • (PMID = 28306427.001).
  • [ISSN] 1933-0693
  • [Journal-full-title] Journal of neurosurgery
  • [ISO-abbreviation] J. Neurosurg.
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] United States
  • [Keywords] NOTNLM ; facial function / gamma knife surgery / outcome / vestibular schwannoma
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18. Gong S, Chen G, Zhong G, Yan K, Zhang E, Chen P, Lin N, Nie X: [Neurofibromatosis type 2]. Lin Chuang Er Bi Yan Hou Ke Za Zhi; 2006 Aug;20(16):721-3
Genetic Alliance. consumer health - Neurofibromatosis type 2.

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] [Neurofibromatosis type 2].
  • OBJECTIVE: To recognise the predisposing factors, clinical manifestations, diagnosis and treatment of neurofibromatosis type 2 (NF2).
  • METHOD: The clinical data of one NF2 case was reported and the literatures were also reviewed.
  • MRI scan indicated space-occupying lesions in the bilateral cerebellopontine angles, bilateral cavernous sinuses and bilateral cervical parts of the patient.
  • The patient was diagnosed as NF2 according to the National Institutes of Health (NIH) criteria, and received operation on the left acoustic tumor.
  • The hearing loss and the facial nerve paralysis (House-Brackmann II) had appeared after operation.
  • CONCLUSION: NF2 is an autosomal dominant, highly penetrant disease which is characterized by bilateral vestibular schwannomas.
  • Early diagnosis and management for tumor is very important for survival and hearing preservation.
  • [MeSH-major] Neurofibromatosis 2

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  • (PMID = 17058913.001).
  • [Journal-full-title] Lin chuang er bi yan hou ke za zhi = Journal of clinical otorhinolaryngology
  • [ISO-abbreviation] Lin Chuang Er Bi Yan Hou Ke Za Zhi
  • [Language] chi
  • [Publication-type] Case Reports; English Abstract; Journal Article
  • [Publication-country] China
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19. 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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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [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

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  • (PMID = 18835652.001).
  • [ISSN] 1872-8332
  • [Journal-full-title] Lung cancer (Amsterdam, Netherlands)
  • [ISO-abbreviation] Lung Cancer
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] Ireland
  • [Chemical-registry-number] 0 / Neurofibromin 2; 0 / PPP1R14A protein, human; 0 / Protein Isoforms; EC 3.1.3.16 / Phosphoprotein Phosphatases
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20. Buckley PG, Mantripragada KK, Díaz de Ståhl T, Piotrowski A, Hansson CM, Kiss H, Vetrie D, Ernberg IT, Nordenskjöld M, Bolund L, Sainio M, Rouleau GA, Niimura M, Wallace AJ, Evans DG, Grigelionis G, Menzel U, Dumanski JP: Identification of genetic aberrations on chromosome 22 outside the NF2 locus in schwannomatosis and neurofibromatosis type 2. Hum Mutat; 2005 Dec;26(6):540-9
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Identification of genetic aberrations on chromosome 22 outside the NF2 locus in schwannomatosis and neurofibromatosis type 2.
  • Schwannomatosis is characterized by multiple peripheral and cranial nerve schwannomas that occur in the absence of bilateral 8th cranial nerve schwannomas.
  • The latter is the main diagnostic criterion of neurofibromatosis type 2 (NF2), which is a related but distinct disorder.
  • The genetic factors underlying the differences between schwannomatosis and NF2 are poorly understood, although available evidence implicates chromosome 22 as the primary location of the gene(s) of interest.
  • To investigate this, we comprehensively profiled the DNA copy number in samples from sporadic and familial schwannomatosis, NF2, and a large cohort of normal controls.
  • In DNA derived from peripheral blood from a schwannomatosis patient and a sporadic schwannoma sample, we detected rearrangements of the immunoglobulin lambda (IGL) locus, which is unlikely to be due to a B-cell specific somatic recombination of IGL.
  • Analysis of normal controls indicated that these IGL rearrangements were restricted to schwannomatosis/schwannoma samples.
  • We further describe missense mutations in the CABIN1 gene that are specific to samples from schwannomatosis and NF2 and make this gene a plausible candidate for contributing to the pathogenesis of these disorders.
  • [MeSH-major] Chromosome Aberrations. Chromosomes, Human, Pair 22 / genetics. Genes, Neurofibromatosis 2. Neurilemmoma / genetics. Neurofibromatosis 2 / genetics
  • [MeSH-minor] Adaptor Proteins, Signal Transducing. Calcineurin / genetics. Chromosome Mapping. Computational Biology. Diagnosis, Differential. Gene Dosage. Gene Rearrangement. Glutathione Transferase / genetics. Humans. Immunoglobulin lambda-Chains / genetics. Microarray Analysis. Mutation. Phosphoproteins / genetics. Polymorphism, Genetic

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  • [Copyright] Copyright 2005 Wiley-Liss, Inc.
  • (PMID = 16287142.001).
  • [ISSN] 1098-1004
  • [Journal-full-title] Human mutation
  • [ISO-abbreviation] Hum. Mutat.
  • [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] United States
  • [Chemical-registry-number] 0 / Adaptor Proteins, Signal Transducing; 0 / CABIN1 protein, human; 0 / Immunoglobulin lambda-Chains; 0 / Phosphoproteins; EC 2.5.1.- / glutathione S-transferase T1; EC 2.5.1.18 / Glutathione Transferase; EC 3.1.3.16 / Calcineurin
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21. Scoles DR: The merlin interacting proteins reveal multiple targets for NF2 therapy. Biochim Biophys Acta; 2008 Jan;1785(1):32-54
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] The merlin interacting proteins reveal multiple targets for NF2 therapy.
  • The neurofibromatosis 2 (NF2) tumor suppressor protein merlin is commonly mutated in human benign brain tumors.
  • The gene altered in NF2 was located on human chromosome 22q12 in 1993 and the encoded protein named merlin and schwannomin.
  • This review describes these proteins, their possible roles in NF2, and the resultant hypothesized merlin functions.
  • Review of all of the merlin interacting proteins and functional consequences of losses of these interactions reveals multiple merlin actions in PI3-kinase, MAP kinase and small GTPase signaling pathways that might be targeted to inhibit the proliferation of NF2 tumors.
  • [MeSH-major] Neurofibromatosis 2 / drug therapy. Neurofibromin 2 / metabolism

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  • (PMID = 17980164.001).
  • [ISSN] 0006-3002
  • [Journal-full-title] Biochimica et biophysica acta
  • [ISO-abbreviation] Biochim. Biophys. Acta
  • [Language] eng
  • [Publication-type] Journal Article; Review
  • [Publication-country] Netherlands
  • [Chemical-registry-number] 0 / Cytoskeletal Proteins; 0 / Neurofibromin 2; 0 / Tumor Suppressor Proteins; 0 / ezrin
  • [Number-of-references] 210
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22. 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


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

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  • (PMID = 17222329.001).
  • [ISSN] 1471-2164
  • [Journal-full-title] BMC genomics
  • [ISO-abbreviation] BMC Genomics
  • [Language] eng
  • [Publication-type] Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, Non-P.H.S.
  • [Publication-country] England
  • [Other-IDs] NLM/ PMC1781436
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24. Iseki C, Takahashi Y, Wada M, Kawanami T, Kurita K, Kato T: [A case of neurofibromatosis type 2 (NF2) presenting with late-onset axonal polyneuropathy]. Rinsho Shinkeigaku; 2009 Jul;49(7):419-23
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  • [Title] [A case of neurofibromatosis type 2 (NF2) presenting with late-onset axonal polyneuropathy].
  • The patient was a 69-year-old man who had a two-year history of slowly-progressive gait disturbance, paresthesia of the distal legs and bilateral hearing impairment.
  • Gadolinium-enhanced brain and spinal cord MRI revealed bilateral vestibular schwannomas, and multiple small schwannomas in the cauda equina, the surface of spinal cord and lumbar muscles.
  • Genetic examination disclosed a point mutation in the exon 2 (T161C: L54P) of the neurofibromatosis 2 (NF2) gene, and the diagnosis of NF2 was made.
  • It has been reported that axonal polyneuropathy is frequently observed in patients with NF2.
  • Therefore, it is possible that axonal polyneuropathy of the present patient may be due to the abnormality of the NF2 gene, but not to the direct compression of the tumors, because the localization of his schwannomas in the cauda equina and the spinal cord could not explain his symmetric polyneuropathy.
  • NF2 should be considered as a differential diagnosis in patients with axonal polyneuropathy, even if it is late-onset.
  • [MeSH-major] Neurofibromatosis 2 / complications. Polyneuropathies / complications

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  • (PMID = 19715170.001).
  • [ISSN] 0009-918X
  • [Journal-full-title] Rinshō shinkeigaku = Clinical neurology
  • [ISO-abbreviation] Rinsho Shinkeigaku
  • [Language] jpn
  • [Publication-type] Case Reports; English Abstract; Journal Article
  • [Publication-country] Japan
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25. Curto M, Cole BK, Lallemand D, Liu CH, McClatchey AI: Contact-dependent inhibition of EGFR signaling by Nf2/Merlin. J Cell Biol; 2007 Jun 4;177(5):893-903
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Contact-dependent inhibition of EGFR signaling by Nf2/Merlin.
  • The neurofibromatosis type 2 (NF2) tumor suppressor, Merlin, is a membrane/cytoskeleton-associated protein that mediates contact-dependent inhibition of proliferation.
  • In confluent Nf2(-/-) cells, EGFR activation persists, driving continued proliferation that is halted by specific EGFR inhibitors.
  • These studies define a new mechanism of tumor suppression, provide mechanistic insight into the poorly understood phenomenon of contact-dependent inhibition of proliferation, and suggest a therapeutic strategy for NF2-mutant tumors.


26. Ju DT, Lin JW, Lin MS, Lee LM, Tseng HM, Wei CP, Yen CH, Hung CC, Hung KS, Lin CM, Lin TJ, Chiu WT, Tsai JT: Hypofractionated CyberKnife stereotactic radiosurgery for acoustic neuromas with and without association to neurofibromatosis Type 2. Acta Neurochir Suppl; 2008;101:169-73
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  • [Title] Hypofractionated CyberKnife stereotactic radiosurgery for acoustic neuromas with and without association to neurofibromatosis Type 2.
  • To treat acoustic neuroma (AN) patients with or without neurofibromatosis Type 2 (NF2) associations, the functional preservation of hearing, trigeminal nerve, and facial nerve are important.
  • Fourteen non-NF2 and seven NF2 patients were enrolled.
  • Two patients experienced hearing deterioration (16.7%) in the non-NF2 group, and 3 patients (50%) in the NF2 group.
  • Hypofractionated CKSRS was not only effective in tumor control but also excellent in hearing preservation for non-NF2 AN.
  • But for NF2 patients, although the tumor control was remarkable, hearing preservation was modest as in non-NF2 patients.
  • [MeSH-major] Neurofibromatosis 2 / surgery. Neuroma, Acoustic / surgery. Radiosurgery / methods

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  • (PMID = 18642654.001).
  • [ISSN] 0065-1419
  • [Journal-full-title] Acta neurochirurgica. Supplement
  • [ISO-abbreviation] Acta Neurochir. Suppl.
  • [Language] eng
  • [Publication-type] Controlled Clinical Trial; Journal Article; Research Support, Non-U.S. Gov't
  • [Publication-country] Austria
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27. Lu-Emerson C, Plotkin SR: The neurofibromatoses. Part 2: NF2 and schwannomatosis. Rev Neurol Dis; 2009;6(3):E81-6
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] The neurofibromatoses. Part 2: NF2 and schwannomatosis.
  • The neurofibromatoses, including neurofibromatosis 1 (NF1), neurofibromatosis 2 (NF2), and schwannomatosis, comprise a group of genetically distinct disorders of the nervous system that are unified by the predisposition to nerve sheath tumors.
  • All 3 types of NF have tumor manifestations (consistent with tumor-suppressor status) and nontumor manifestations.
  • In the second part of this 2-part series, the manifestations of NF2 and schwannomatosis are reviewed.
  • NF2 is characterized by bilateral vestibular schwannomas, meningiomas, ependymomas, cataracts, and epiretinal membranes.
  • The combination of complete hearing loss from vestibular schwannomas and blindness from bifacial weakness is a devastating potential outcome of NF2.
  • Recently, germline alterations in the SMARCB1/INI1 gene have been implicated in both familial and sporadic forms of this disorder.
  • Neurologists play an important role in the diagnosis and management of the neurofibromatoses.
  • [MeSH-major] Cranial Nerves / pathology. Neurilemmoma / pathology. Neurilemmoma / physiopathology. Neurofibromatosis 2 / pathology. Neurofibromatosis 2 / physiopathology. Spinal Nerves / pathology
  • [MeSH-minor] Blindness / etiology. Blindness / physiopathology. Genetic Predisposition to Disease / genetics. Humans. Meningeal Neoplasms / genetics. Meningeal Neoplasms / pathology. Meningeal Neoplasms / physiopathology. Neuroma, Acoustic / genetics. Neuroma, Acoustic / pathology. Neuroma, Acoustic / physiopathology. Spinal Cord Neoplasms / genetics. Spinal Cord Neoplasms / pathology. Spinal Cord Neoplasms / physiopathology

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  • (PMID = 19898272.001).
  • [ISSN] 1949-4378
  • [Journal-full-title] Reviews in neurological diseases
  • [ISO-abbreviation] Rev Neurol Dis
  • [Language] eng
  • [Publication-type] Journal Article; Review
  • [Publication-country] United States
  • [Number-of-references] 34
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28. Pitchford CW, Schwartz HS, Atkinson JB, Cates JM: Soft tissue perineurioma in a patient with neurofibromatosis type 2: a tumor not previously associated with the NF2 syndrome. Am J Surg Pathol; 2006 Dec;30(12):1624-9
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Soft tissue perineurioma in a patient with neurofibromatosis type 2: a tumor not previously associated with the NF2 syndrome.
  • Neoplasms that commonly affect patients with neurofibromatosis type 2 (NF2) include schwannomas, meningiomas, astrocytomas, ependymomas, and neurofibromas.
  • As in both NF2-associated and sporadic cases of schwannoma and meningioma, perineuriomas often harbor mutations or deletions of the NF2 gene.
  • However, perineuriomas have not previously been reported in the clinical setting of NF2.
  • A 30-year-old man with a history of bilateral vestibular schwannomas, a parasagittal meningioma, an intraspinal ependymoma, and multiple other neoplasms involving both cranial and peripheral nerves (thereby fulfilling the diagnostic criteria for NF2) presented with an enlarging thigh mass.
  • The diagnosis of cellular soft tissue perineurioma was confirmed by both immunohistochemical and ultrastructural analysis.
  • This case represents the first report of a soft tissue perineurioma arising in the setting of NF2.
  • [MeSH-major] Nerve Sheath Neoplasms / complications. Neurofibromatosis 2 / complications. Soft Tissue Neoplasms / complications
  • [MeSH-minor] Adult. Biomarkers, Tumor / analysis. Cytoplasm / ultrastructure. Diagnosis, Differential. Humans. Male. Neoplasms, Multiple Primary. Peripheral Nervous System Neoplasms / diagnosis

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  • (PMID = 17122521.001).
  • [ISSN] 0147-5185
  • [Journal-full-title] The American journal of surgical pathology
  • [ISO-abbreviation] Am. J. Surg. Pathol.
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / Biomarkers, Tumor
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29. 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

  • [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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30. Sestini R, Bacci C, Provenzano A, Genuardi M, Papi L: Evidence of a four-hit mechanism involving SMARCB1 and NF2 in schwannomatosis-associated schwannomas. Hum Mutat; 2008 Feb;29(2):227-31
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Evidence of a four-hit mechanism involving SMARCB1 and NF2 in schwannomatosis-associated schwannomas.
  • Schwannomatosis is characterized by the onset of multiple intracranial, spinal, or peripheral schwannomas, without involvement of the vestibular nerve, which is instead pathognomonic of neurofibromatosis type 2 (NF2).
  • We report on the molecular analysis of the SMARCB1 and NF2 genes in a series of 21 patients with schwannomatosis and in eight schwannomatosis-associated tumors from four different patients.
  • A novel germline SMARCB1 mutation was found in one patient; inactivating somatic mutations of NF2, associated with loss of heterozygosity (LOH) of 22q, were found in two schwannomas of this patient.
  • This is the second report of a germline SMARCB1 mutation in patients affected by schwannomatosis and the first report of SMARCB1 mutations associated with somatic NF2 mutations in schwannomatosis-associated tumors.
  • The latter observation suggests that a four-hit mechanism involving the SMARCB1 and NF2 genes may be implicated in schwannomatosis-related tumorigenesis.

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  • [Copyright] (c) 2007 Wiley-Liss, Inc.
  • (PMID = 18072270.001).
  • [ISSN] 1098-1004
  • [Journal-full-title] Human mutation
  • [ISO-abbreviation] Hum. Mutat.
  • [Language] eng
  • [Publication-type] Journal Article; Research Support, Non-U.S. Gov't
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / Chromosomal Proteins, Non-Histone; 0 / DNA-Binding Proteins; 0 / Neurofibromin 2; 0 / SMARCB1 protein, human; 0 / Transcription Factors
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31. Kluwe L, Nygren AO, Errami A, Heinrich B, Matthies C, Tatagiba M, Mautner V: Screening for large mutations of the NF2 gene. Genes Chromosomes Cancer; 2005 Apr;42(4):384-91

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Screening for large mutations of the NF2 gene.
  • Neurofibromatosis 2 (NF2) is a genetic disorder caused by mutational inactivation of the NF2 gene and is characterized by bilateral vestibular schwannomas, spinal tumors, and other benign tumors of the nervous system.
  • Previously, we found intragenic NF2 mutations in 99 of 188 unrelated NF2 patients by exon-scanning-based methods.
  • Tumor analysis of 22 de novo NF2 patients led to the identification of 12 additional constitutive NF2 mutations.
  • One deletion of a single exon, seven deletions of multiple exons, seven deletions involving the 3' or 5' end of the NF2 gene, four deletions involving the whole NF2 gene, and one duplication of three exons were detected.
  • Thus, deletions, duplications, and insertions affecting the NF2 gene were found in 21 cases, which is 11% of the 188 unrelated NF2 patients studied, 16% of the 132 mutations identified, and 27% of the 77 cases in which no intragenic small mutations were detected by exon scanning.
  • [MeSH-major] Genes, Neurofibromatosis 2. Mutation

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  • [Copyright] (c) 2005 Wiley-Liss, Inc.
  • (PMID = 15645494.001).
  • [ISSN] 1045-2257
  • [Journal-full-title] Genes, chromosomes & cancer
  • [ISO-abbreviation] Genes Chromosomes Cancer
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / RNA, Messenger
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32. 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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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [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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33. 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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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [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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34. Evans DG: Neurofibromatosis type 2 (NF2): a clinical and molecular review. Orphanet J Rare Dis; 2009;4:16
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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 (NF2): a clinical and molecular review.
  • Neurofibromatosis type 2 (NF2) is a tumour-prone disorder characterised by the development of multiple schwannomas and meningiomas.
  • Affected individuals inevitably develop schwannomas, typically affecting both vestibular nerves and leading to hearing loss and deafness.
  • Vestibular schwannomas may also cause dizziness or imbalance as a first symptom.
  • Nausea, vomiting or true vertigo are rare symptoms, except in late-stage disease.
  • The other main tumours are schwannomas of the other cranial, spinal and peripheral nerves; meningiomas both intracranial (including optic nerve meningiomas) and intraspinal, and some low-grade central nervous system malignancies (ependymomas).
  • About 70% of NF2 patients have skin tumours (intracutaneous plaque-like lesions or more deep-seated subcutaneous nodular tumours).
  • Neurofibromatosis type 2 is a dominantly inherited tumour predisposition syndrome caused by mutations in the NF2 gene on chromosome 22.
  • More than 50% of patients represent new mutations and as many as one-third are mosaic for the underlying disease-causing mutation.
  • Although truncating mutations (nonsense and frameshifts) are the most frequent germline event and cause the most severe disease, single and multiple exon deletions are common.
  • Diagnosis is based on clinical and neuroimaging studies.
  • Presymptomatic genetic testing is an integral part of the management of NF2 families.
  • Prenatal diagnosis and pre-implantation genetic diagnosis is possible.
  • The main differential diagnosis of NF2 is schwannomatosis.
  • NF2 represents a difficult management problem with most patients facing substantial morbidity and reduced life expectancy.
  • [MeSH-major] Neurofibromatosis 2
  • [MeSH-minor] Adolescent. Adult. Genes, Neurofibromatosis 2. Humans. Mutation. Prognosis. Young Adult


35. Evans DG, Ramsden RT, Gokhale C, Bowers N, Huson SM, Wallace A: Should NF2 mutation screening be undertaken in patients with an apparently isolated vestibular schwannoma? Clin Genet; 2007 Apr;71(4):354-8
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Should NF2 mutation screening be undertaken in patients with an apparently isolated vestibular schwannoma?
  • Early onset of vestibular schwannoma (VS) is associated with the inherited condition neurofibromatosis type 2 (NF2).
  • However, the majority of NF2 presents bilaterally and the proportion of early-onset apparent sporadic unilateral VS because of NF2 remains to be determined.
  • We have determined the risk by studying NF2 risk in a population-based set of VS, looking at the mode of presentation in a large NF2 data set and the outcome of NF2 mutation analysis in 148 sporadic unilateral vs. The risk of NF2 in an apparently sporadic case of unilateral VS is small apart from in the very youngest age group (<20 years).
  • NF2 germ line mutation testing is unlikely to reveal a mutation except <20 years as a result of the low risk and high rates of mosaicism.
  • Germ line mutation testing is probably only justified in sporadic unilateral VS <20 years unless other features of NF2 are present.
  • [MeSH-major] Genes, Neurofibromatosis 2. Mutation. Neuroma, Acoustic / genetics
  • [MeSH-minor] Adolescent. Adult. Age of Onset. Child. DNA Mutational Analysis. England. Genetic Testing. Germ-Line Mutation. Humans. Middle Aged. Mosaicism. Neurofibromatosis 2 / complications. Neurofibromatosis 2 / genetics. Risk Factors

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  • (PMID = 17470137.001).
  • [ISSN] 0009-9163
  • [Journal-full-title] Clinical genetics
  • [ISO-abbreviation] Clin. Genet.
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] Denmark
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36. Cui YX, Xia XY, Huang TT, Wei L, Fan XB, Yao B, Ge YF, Li XJ, Huang YF: [Mutation analysis of NF2 gene and clinical investigation in a Chinese family with neurofibromatosis type II]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2010 Dec;27(6):688-91
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] [Mutation analysis of NF2 gene and clinical investigation in a Chinese family with neurofibromatosis type II].
  • OBJECTIVE: To report a heterozygous RNA-splicing mutation (IVS3+ 3A to C) of NF2 gene in a Chinese family with autosomal dominant neurofibromatosis type II and investigate the relationship between the genotype and phenotype.
  • METHODS: The proband with bilateral vestibular schwannomas underwent gamma knife radiosurgery two years earlier.
  • DNA of blood samples from all affected individuals, suspected individuals and unaffected relatives of the family was extracted and amplified to detect the polymorphisms at loci D22S1150 and D22S268 that are linked with the NF2 gene.
  • The promoter region, 17 exons and exon/intron boundaries of NF2 gene were amplified and sequenced for the proband.
  • The exon 3/intron 3 boundaries of NF2 gene was amplified and sequenced for the other 3 patients, 1 suspected individual, 9 unaffected members of the family and 150 unrelated controls.
  • RESULTS: The result of two-point linkage analysis suggested that NF2 gene was a candidate gene (Zmax= 2.109, θ = 0.00, locus D22S1150).
  • No mutation was found in the 9 normal family members and 150 unrelated controls, which was consistent with the clinical diagnosis.
  • CONCLUSION: This is the first report of familial neurofibromatosis type II with a splicing mutation of IVS3+ 3A to C of the NF2 gene.
  • The mutation might be responsible for the neurofibromatosis type II in the family.
  • [MeSH-major] Asian Continental Ancestry Group / genetics. DNA Mutational Analysis / methods. Mutation / genetics. Neurofibromatosis 2 / genetics. Neurofibromin 2 / genetics. Pedigree

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  • (PMID = 21154335.001).
  • [ISSN] 1003-9406
  • [Journal-full-title] Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
  • [ISO-abbreviation] Zhonghua Yi Xue Yi Chuan Xue Za Zhi
  • [Language] chi
  • [Publication-type] English Abstract; Journal Article; Research Support, Non-U.S. Gov't
  • [Publication-country] China
  • [Chemical-registry-number] 0 / Neurofibromin 2
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37. James MF, Lelke JM, Maccollin M, Plotkin SR, Stemmer-Rachamimov AO, Ramesh V, Gusella JF: Modeling NF2 with human arachnoidal and meningioma cell culture systems: NF2 silencing reflects the benign character of tumor growth. Neurobiol Dis; 2008 Feb;29(2):278-92
Hazardous Substances Data Bank. BROMODEOXYURIDINE .

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Modeling NF2 with human arachnoidal and meningioma cell culture systems: NF2 silencing reflects the benign character of tumor growth.
  • Meningiomas, common tumors arising from arachnoidal cells of the meninges, may occur sporadically, or in association with the inherited disorder, neurofibromatosis 2 (NF2).
  • Most sporadic meningiomas result from NF2 inactivation, resulting in loss of tumor suppressor merlin, implicated in regulating membrane-cytoskeletal organization.
  • To investigate merlin function in an authentic target cell type for NF2 tumor formation, we established primary cultures from genetically-matched meningioma and normal arachnoidal tissues.
  • Our studies revealed novel and distinct cell biological and biochemical properties unique to merlin-deficient meningioma cells compared to merlin-expressing arachnoidal and meningioma cells, and other NF2-deficient cell types.
  • Merlin suppression by RNAi in arachnoidal cells replicated merlin-deficient meningioma features, thus establishing these cell systems as disease-relevant models for studying NF2 tumorigenesis.

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  • [ISSN] 0969-9961
  • [Journal-full-title] Neurobiology of disease
  • [ISO-abbreviation] Neurobiol. Dis.
  • [Language] ENG
  • [Grant] United States / NINDS NIH HHS / NS / P30 NS045776-04; United States / NINDS NIH HHS / NS / NS024279-15A10010; United States / NINDS NIH HHS / NS / P01 NS024279-130001; United States / NINDS NIH HHS / NS / NS024279-160010; United States / NINDS NIH HHS / NS / P30 NS045776-03; United States / NINDS NIH HHS / NS / NS045776; United States / NINDS NIH HHS / NS / NS045776-05; United States / NINDS NIH HHS / NS / NS045776-019003; United States / NINDS NIH HHS / NS / NS045776-01; United States / NINDS NIH HHS / NS / NS024279-140001; United States / NINDS NIH HHS / NS / NS041917-04; United States / NINDS NIH HHS / NS / P30 NS045776; United States / NINDS NIH HHS / NS / P30 NS045776-019001; United States / NINDS NIH HHS / NS / NS024279; United States / NINDS NIH HHS / NS / NS024279-130001; United States / NINDS NIH HHS / NS / NS041917-02; United States / NINDS NIH HHS / NS / R01 NS041917; United States / NINDS NIH HHS / NS / R01 NS041917-05; United States / NINDS NIH HHS / NS / R01 NS041917-02; United States / NINDS NIH HHS / NS / NS045776-04; United States / NINDS NIH HHS / NS / P01 NS024279-15A10010; United States / NINDS NIH HHS / NS / NS024279-120001; United States / NINDS NIH HHS / NS / NS041917-05; United States / NINDS NIH HHS / NS / P30 NS045776-01; United States / NINDS NIH HHS / NS / NS041917-03; United States / NINDS NIH HHS / NS / P01 NS024279-120001; United States / NINDS NIH HHS / NS / P30 NS045776-019003; United States / NINDS NIH HHS / NS / NS045776-03; United States / NINDS NIH HHS / NS / P30 NS045776-02; United States / NINDS NIH HHS / NS / P30 NS045776-05; United States / NINDS NIH HHS / NS / P01 NS024279; United States / NINDS NIH HHS / NS / R01 NS041917-01; United States / NINDS NIH HHS / NS / NS041917-01; United States / NINDS NIH HHS / NS / R01 NS041917-04; United States / NINDS NIH HHS / NS / NS045776-019001; United States / NINDS NIH HHS / NS / P01 NS024279-140001; United States / NINDS NIH HHS / NS / NS041917; United States / NINDS NIH HHS / NS / R01 NS041917-03; United States / NINDS NIH HHS / NS / P01 NS024279-160010
  • [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 / Actins; 0 / Catenins; 0 / Membrane Proteins; 0 / Neoplasm Proteins; 0 / Neurofibromin 2; 0 / RNA, Small Interfering; G34N38R2N1 / Bromodeoxyuridine
  • [Other-IDs] NLM/ NIHMS39296; NLM/ PMC2266821
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38. Maini S, Cohen MA, Hollow R, Briggs R: Update on long-term results with auditory brainstem implants in NF2 patients. Cochlear Implants Int; 2009;10 Suppl 1:33-7

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Update on long-term results with auditory brainstem implants in NF2 patients.
  • This study reviews the long-term results of auditory brainstem implant (ABI) in neurofibromatosis type 2 (NF2) patients.
  • In conclusion, ABI provides a safe and useful tool for aural rehabilitation in NF2 patients.
  • [MeSH-major] Auditory Brain Stem Implantation. Neurofibromatosis 2 / rehabilitation
  • [MeSH-minor] Adult. Follow-Up Studies. Humans. Middle Aged. Neuroma, Acoustic / surgery. Speech Perception. Young Adult

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  • [Copyright] Copyright 2009 John Wiley & Sons, Ltd.
  • (PMID = 19230037.001).
  • [ISSN] 1754-7628
  • [Journal-full-title] Cochlear implants international
  • [ISO-abbreviation] Cochlear Implants Int
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] England
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39. Benhamouche S, Curto M, Saotome I, Gladden AB, Liu CH, Giovannini M, McClatchey AI: Nf2/Merlin controls progenitor homeostasis and tumorigenesis in the liver. Genes Dev; 2010 Aug 15;24(16):1718-30
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  • [Title] Nf2/Merlin controls progenitor homeostasis and tumorigenesis in the liver.
  • We report here that liver-specific deletion of the neurofibromatosis type 2 (Nf2) tumor suppressor gene in the developing or adult mouse specifically yields a dramatic, progressive expansion of progenitor cells throughout the liver without affecting differentiated hepatocytes.
  • All surviving mice eventually developed both cholangiocellular and hepatocellular carcinoma, suggesting that Nf2(-/-) progenitors can be a cell of origin for these tumors.
  • Despite the suggested link between Nf2 and the Hpo/Wts/Yki signaling pathway in Drosophila, and recent studies linking the corresponding Mst/Lats/Yap pathway to mammalian liver tumorigenesis, our molecular studies suggest that Merlin is not a major regulator of YAP in liver progenitors, and that the overproliferation of Nf2(-/-) liver progenitors is instead driven by aberrant epidermal growth factor receptor (EGFR) activity.
  • Indeed, pharmacologic inhibition of EGFR blocks the proliferation of Nf2(-/-) liver progenitors in vitro and in vivo, consistent with recent studies indicating that the Nf2-encoded protein Merlin can control the abundance and signaling of membrane receptors such as EGFR.
  • Together, our findings uncover a critical role for Nf2/Merlin in controlling homeostasis of the liver stem cell niche.

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  • (PMID = 20675406.001).
  • [ISSN] 1549-5477
  • [Journal-full-title] Genes & development
  • [ISO-abbreviation] Genes Dev.
  • [Language] ENG
  • [Grant] United States / NCI NIH HHS / CA / CA124030-03; United States / NCI NIH HHS / CA / F32 CA124030-03; United States / NCI NIH HHS / CA / F32 CA124030; United States / NCI NIH HHS / CA / R01 CA113733; United States / NIGMS NIH HHS / GM / R01 GM087558; United States / NIAID NIH HHS / AI / P30 AI060354
  • [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 / Adaptor Proteins, Signal Transducing; 0 / Neurofibromin 2; 0 / Phosphoproteins; 0 / Yap protein, mouse; EC 2.7.10.1 / Receptor, Epidermal Growth Factor
  • [Other-IDs] NLM/ PMC2922501
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40. 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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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [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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41. Poulikakos PI, Xiao GH, Gallagher R, Jablonski S, Jhanwar SC, Testa JR: Re-expression of the tumor suppressor NF2/merlin inhibits invasiveness in mesothelioma cells and negatively regulates FAK. Oncogene; 2006 Sep 28;25(44):5960-8
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Re-expression of the tumor suppressor NF2/merlin inhibits invasiveness in mesothelioma cells and negatively regulates FAK.
  • The neurofibromatosis type 2 NF2 gene product, merlin, is a tumor suppressor frequently inactivated in malignant mesothelioma (MM).
  • To investigate a possible correlation between merlin inactivation and MM invasiveness, we restored merlin expression in NF2-deficient MM cells.
  • To test directly whether merlin inactivation promotes invasion in a nonmalignant system, we used small interfering RNA to silence Nf2 in mouse embryonic fibroblasts (MEFs) and found that downregulation of merlin resulted in enhanced cell spreading and invasion.
  • In addition, NF2-null MM cells stably overexpressing FAK showed increased invasiveness, which decreased significantly when merlin expression was restored.

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  • (PMID = 16652148.001).
  • [ISSN] 0950-9232
  • [Journal-full-title] Oncogene
  • [ISO-abbreviation] Oncogene
  • [Language] eng
  • [Grant] United States / NCI NIH HHS / CA / CA-06927; United States / NCI NIH HHS / CA / CA-114047; United States / NCI NIH HHS / CA / CA-45745
  • [Publication-type] Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
  • [Publication-country] England
  • [Chemical-registry-number] 0 / Neurofibromin 2; EC 2.7.10.2 / Focal Adhesion Protein-Tyrosine Kinases
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42. Sabol Z, Kipke-Sabol L, Miklić P, Hajnsek-Propadalo S, Sabol F: [Neurofibromatosis type 2 (central neurofibromatosis or bilateral acoustic neuromas, vestibular schwannomas): from phenotype to gene]. Lijec Vjesn; 2006 Sep-Oct;128(9-10):309-16
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  • [Title] [Neurofibromatosis type 2 (central neurofibromatosis or bilateral acoustic neuromas, vestibular schwannomas): from phenotype to gene].
  • [Transliterated title] Neurofibromatoza tip 2 (centralna neurofibromatoza ili bilateralni akusticki neuromi, vestibularni svanomi): od fenotipa do gena.
  • Neurofibromatosis type 2 (NF2) is an autosomal dominant disease that predisposes to bilateral vestibular schwannomas (neurinomas), other central and peripheral nervous system tumours (multiple meningeomas and neurofibromas) and ocular abnormalities (cataract).
  • The NF2 tumour suppresor gene is localised on chromosome 22q12 and encodes protein called schwannomin or merlin which is related to a family of cytoskeleton-to-membrane proteins linkers ERM (ezrin-radixin-moesin proteins).
  • The majority of observed germline NF2 mutations are point mutations which result in schwannomin with an altered or absent C-terminal domain.
  • NF2 has a variable clinical presentation, with two basic types: severe type having early onset and progressive growth of tumors and the milder type having later onset and less aggressive course.
  • The genotype-phenotype correlations indicate a greater variability of clinical disease expression.
  • In this paper we discuss the epidemiology, genetic and clinical characteristics, diagnostic criteria, investigations, screening for risk persons and recommendations for care and therapy of patients with NF2.
  • [MeSH-major] Neurofibromatosis 2 / genetics. Neuroma, Acoustic / genetics


43. Grayeli AB, Kalamarides M, Bouccara D, Ambert-Dahan E, Sterkers O: Auditory brainstem implant in neurofibromatosis type 2 and non-neurofibromatosis type 2 patients. Otol Neurotol; 2008 Dec;29(8):1140-6
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  • [Title] Auditory brainstem implant in neurofibromatosis type 2 and non-neurofibromatosis type 2 patients.
  • OBJECTIVE: To evaluate the auditory brainstem implant (ABI) performances in neurofibromatosis type 2 (NF2) and non-NF2 patients.
  • The population comprised 23 NF2, 3 postmeningitis bilateral ossified cochleas, 3 solitary vestibular schwannomas on the only hearing ear, 1 inner ear malformation, and 1 bilateral cochlear destruction by otosclerosis.
  • RESULTS: In NF2 patients, 16 (70%) were daily users of their implants.
  • Six non-NF2 patients (75%) were daily ABI users.
  • The performances of patients with ossified cochleas were similar to best NF2 cases.
  • CONCLUSION: A clear benefit of ABI could be evidenced in NF2 patients, especially in case of small tumor and short duration of hearing loss.
  • Auditory brainstem implant may also be indicated in patients with bilateral profound hearing loss and a predictable failure of cochlear implantation.
  • [MeSH-major] Auditory Brain Stem Implantation / methods. Hearing Aids. Neurofibromatosis 2 / surgery. Prosthesis Implantation / methods
  • [MeSH-minor] Adolescent. Adult. Aged. Cochlea / pathology. Cohort Studies. Ear, Inner / abnormalities. Electric Stimulation. Evoked Potentials, Auditory / physiology. Humans. Meningitis / complications. Middle Aged. Neuroma, Acoustic / surgery. Ossification, Heterotopic / etiology. Otosclerosis / complications. Retrospective Studies. Young Adult

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  • (PMID = 18849886.001).
  • [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] Journal Article
  • [Publication-country] United States
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44. Begnami MD, Palau M, Rushing EJ, Santi M, Quezado M: Evaluation of NF2 gene deletion in sporadic schwannomas, meningiomas, and ependymomas by chromogenic in situ hybridization. Hum Pathol; 2007 Sep;38(9):1345-50
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Evaluation of NF2 gene deletion in sporadic schwannomas, meningiomas, and ependymomas by chromogenic in situ hybridization.
  • Fluorescence in situ hybridization, loss of heterozygosity testing, and comparative genomic hybridization have been used to detect NF2 gene alterations in both sporadic and neurofibromatosis type 2 (NF2)-associated central nervous system tumors.
  • In this study, we performed chromogenic in situ hybridization (CISH) and immunohistochemistry to evaluate for NF2 gene deletion in a group of sporadic meningiomas, schwannomas, and ependymomas.
  • CISH and immunohistochemistry were performed using the NF2 gene deletion probe and NF2 polyclonal antibody.
  • Deletion of the NF2 gene was identified in 11 (50%) tumors, including 60% (6/10) of meningiomas, 33% (3/9) of ependymomas, and 67% (2/3) of schwannomas.
  • Overall, immunoexpression of NF2 protein was observed in 50% (11/22) tumors, and concordance between CISH and immunohistochemistry was observed in 73% of cases.
  • Our results support previous observations that schwannomas and meningiomas, and to a lesser degree, ependymomas, express a high incidence of NF2 gene deletion, which supports the hypothesis that NF2 gene plays an important role in their tumorigenesis.
  • In addition, we have validated CISH as an efficient, economic, and reliable method for routinely assessing NF2 gene deletion in these tumors.
  • [MeSH-major] Ependymoma / pathology. Gene Deletion. Genes, Neurofibromatosis 2. Meningioma / pathology. Neurilemmoma / pathology

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  • (PMID = 17509660.001).
  • [ISSN] 0046-8177
  • [Journal-full-title] Human pathology
  • [ISO-abbreviation] Hum. Pathol.
  • [Language] eng
  • [Grant] United States / Intramural NIH HHS / / Z99 CA999999
  • [Publication-type] Journal Article; Validation Studies
  • [Publication-country] United States
  • [Other-IDs] NLM/ NIHMS29654; NLM/ PMC2094208
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45. Bosco EE, Nakai Y, Hennigan RF, Ratner N, Zheng Y: NF2-deficient cells depend on the Rac1-canonical Wnt signaling pathway to promote the loss of contact inhibition of proliferation. Oncogene; 2010 Apr 29;29(17):2540-9
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] NF2-deficient cells depend on the Rac1-canonical Wnt signaling pathway to promote the loss of contact inhibition of proliferation.
  • The neurofibromatosis type 2 (NF2) tumor suppressor gene encodes merlin, a membrane/cytoskeleton protein necessary for the maintenance of contact inhibition of growth in cells.
  • Bi-allelic inactivation of NF2 is known to cause multiple cancers in both humans and mice.
  • In this report, we show that NF2 knockout mouse embryonic fibroblasts lost contact inhibition of cell proliferation and contained significantly increased canonical Wnt signaling.
  • Inhibition of Rac1, the activity of which is inversely regulated by NF2, through the use of a dominant-negative mutant, small hairpin RNA or a small molecule inhibitor in NF2-deficient cells, was able to suppress elevated Wnt signals as shown by reduced activity of the T-cell factor 4 (TCF4) transcription factor.
  • Dominant-negative TCF4 or Rac1 mutant, as well as a small molecule inhibition of Wnt, were able to curb NF2 deficiency-elicited cell proliferation at the confluent state.
  • Thus, Rac1-mediated canonical Wnt signaling is essential for the loss of contact inhibition in NF2-deficient cells.

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  • (PMID = 20154721.001).
  • [ISSN] 1476-5594
  • [Journal-full-title] Oncogene
  • [ISO-abbreviation] Oncogene
  • [Language] ENG
  • [Grant] United States / NCI NIH HHS / CA / R01 CA118032-01A2; United States / NCI NIH HHS / CA / CA141341-10; United States / NCI NIH HHS / CA / CA125658-03S1; United States / NCI NIH HHS / CA / R01 CA125658; United States / NCI NIH HHS / CA / R01 CA141341; United States / NCI NIH HHS / CA / T32 CA117846; United States / NCI NIH HHS / CA / R01 CA141341-10; United States / NCI NIH HHS / CA / CA118032-01A2; United States / NCI NIH HHS / CA / R01 CA118032; United States / NCI NIH HHS / CA / R01 CA125658-03S1
  • [Publication-type] Journal Article; Research Support, N.I.H., Extramural
  • [Publication-country] England
  • [Chemical-registry-number] 0 / Neurofibromin 2; 0 / Neuropeptides; 0 / Rac1 protein, mouse; 0 / Wnt Proteins; EC 3.6.5.2 / rac GTP-Binding Proteins; EC 3.6.5.2 / rac1 GTP-Binding Protein
  • [Other-IDs] NLM/ NIHMS171212; NLM/ PMC2861729
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46. Łaniewski-Wołłk M, Gos M, Koziarski A, Szpecht-Potocka A: Identification of mutations in the NF2 gene in Polish patients with neurofibromatosis type 2. J Appl Genet; 2008;49(3):297-300
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  • [Title] Identification of mutations in the NF2 gene in Polish patients with neurofibromatosis type 2.
  • Point mutation and loss of heterozygosity (LOH) analyses were performed in 12 Polish patients with a classic symptom of NF2 - bilateral vestibular schwannomas (BVS).
  • In 5 patients (41.7%), germline mutations were found in the NF2 gene: 2 previously reported substitutions (c.592C>T and c.52C>T) and 3 novel mutations (c.1001_1002insG, c.1029_1030insCC, c.774_778dupGAATG).
  • In addition, LOH analysis of 30 tumour samples from 10 patients revealed a molecular basis of NF2 in 3 patients (25%) that did not have any germline mutation.
  • The molecular defects in sporadic cases of NF2 are still being discussed.
  • [MeSH-major] Germ-Line Mutation / genetics. Loss of Heterozygosity. Neurofibromatosis 2 / genetics

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  • (PMID = 18670066.001).
  • [ISSN] 1234-1983
  • [Journal-full-title] Journal of applied genetics
  • [ISO-abbreviation] J. Appl. Genet.
  • [Language] eng
  • [Publication-type] Journal Article; Research Support, Non-U.S. Gov't
  • [Publication-country] Poland
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47. 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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48. Ruggieri M, Iannetti P, Polizzi A, La Mantia I, Spalice A, Giliberto O, Platania N, Gabriele AL, Albanese V, Pavone L: Earliest clinical manifestations and natural history of neurofibromatosis type 2 (NF2) in childhood: a study of 24 patients. Neuropediatrics; 2005 Feb;36(1):21-34
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  • [Title] Earliest clinical manifestations and natural history of neurofibromatosis type 2 (NF2) in childhood: a study of 24 patients.
  • BACKGROUND: Neurofibromatosis type 2 (NF2) is an autosomal dominant disease characterised by the development of multiple nervous system tumours, ocular abnormalities, and skin tumours.
  • Although classically considered a disease of adults, initial signs and/or symptoms may be evident in childhood and are often unrecognised.
  • OBJECTIVES: The aim of this study was to identify the earliest clinical presentations of NF2 and to characterise the clinical course and outcome in children with NF2.
  • METHODS: We have performed a retrospective (years 1990-1998) and prospective (years 1998-2004) study of 24 patients (10 males, 14 females; currently aged 4 to 22 years) fulfilling the revised (Manchester) NF2 criteria seen at the Universities of Catania and Rome, Italy.
  • RESULTS: Causes of referral prior to a definitive diagnosis of NF2 were:.
  • 3) Neurological dysfunction: seizures secondary to intracranial meningioma (n = 1) or vestibular schwannomas (VS) (n = 1), neurological dysfunction related to brainstem and/or spinal cord tumours (n = 7), isolated and multiple cranial nerve deficits (n = 10), and peripheral neuropathy secondary to schwannomas (n = 4);.
  • Molecular genetic analysis of the NF2 gene revealed typical truncating mutations in all the 5 familial cases and in 2/10 sporadic cases analysed.
  • CONCLUSIONS: Children with NF2 often first come to medical attention because of ocular, subtle skin, or neurological problems the significance of which is realised when they later present with more classical symptoms due to bilateral VS or other intracranial tumours.
  • [MeSH-major] Neurofibromatosis 2 / physiopathology. Otorhinolaryngologic Diseases / etiology

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  • (PMID = 15776319.001).
  • [ISSN] 0174-304X
  • [Journal-full-title] Neuropediatrics
  • [ISO-abbreviation] Neuropediatrics
  • [Language] eng
  • [Publication-type] Comparative Study; Journal Article
  • [Publication-country] Germany
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49. Zhang N, Bai H, David KK, Dong J, Zheng Y, Cai J, Giovannini M, Liu P, Anders RA, Pan D: The Merlin/NF2 tumor suppressor functions through the YAP oncoprotein to regulate tissue homeostasis in mammals. Dev Cell; 2010 Jul 20;19(1):27-38
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  • [Title] The Merlin/NF2 tumor suppressor functions through the YAP oncoprotein to regulate tissue homeostasis in mammals.
  • Using conditional knockout mice, we demonstrate that the Merlin/NF2 tumor suppressor and the YAP oncoprotein function antagonistically to regulate liver development.
  • While inactivation of Yap led to loss of hepatocytes and biliary epithelial cells, inactivation of Nf2 led to hepatocellular carcinoma and bile duct hamartoma.
  • Strikingly, the Nf2-deficient phenotypes in multiple tissues were largely suppressed by heterozygous deletion of Yap, suggesting that YAP is a major effector of Merlin/NF2 in growth regulation.
  • Our studies link Merlin/NF2 to mammalian Hippo signaling and implicate YAP activation as a mediator of pathologies relevant to Neurofibromatosis 2.

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  • [Copyright] (c) 2010 Elsevier Inc. All rights reserved.
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  • (PMID = 20643348.001).
  • [ISSN] 1878-1551
  • [Journal-full-title] Developmental cell
  • [ISO-abbreviation] Dev. Cell
  • [Language] eng
  • [Grant] United States / NIDDK NIH HHS / DK / R01 DK081417; United States / NIDDK NIH HHS / DK / R01 DK081417; United States / Howard Hughes Medical Institute / / ; United States / Howard Hughes Medical Institute / /
  • [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 / Adaptor Proteins, Signal Transducing; 0 / DNA Primers; 0 / Neurofibromin 2; 0 / Phosphoproteins; 0 / Yap protein, mouse
  • [Other-IDs] NLM/ HHMIMS225649; NLM/ PMC2925178
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50. Sestini R, Provenzano A, Bacci C, Orlando C, Genuardi M, Papi L: NF2 mutation screening by denaturing high-performance liquid chromatography and high-resolution melting analysis. Genet Test; 2008 Jun;12(2):311-8
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] NF2 mutation screening by denaturing high-performance liquid chromatography and high-resolution melting analysis.
  • Neurofibromatosis type 2 (NF2) is an autosomal-dominant disorder caused by mutations in the NF2 gene and predisposing to the development of nervous system.
  • Identification of germline mutations is essential to provide appropriate genetic counseling in NF2 patients, but it represents an extremely challenging task because the vast majority of mutations are unique and spread over the entire coding sequence.
  • Moreover, about 30% of de novo patients are indeed mosaic, and direct sequencing can undetect mutated alleles present in a minority of cells.
  • As most screening techniques do not meet the requirements for efficient NF2 testing, we have developed a semi-automated denaturing high-performance liquid chromatography (DHPLC) method for point mutation detection combined with a multiplex ligation-dependent probe amplification approach to screen for gene rearrangements.
  • In addition, we have evaluated high-resolution melting analysis (HRMA) as an exon scanning procedure to identify point mutations in the NF2 gene.
  • The results obtained in 92 NF2 patients expand the NF2 mutational spectrum and indicate DHPLC and HRMA as good systems to screen for point mutations in diseases with a heterogeneous spectrum of alterations.
  • [MeSH-major] Chromatography, High Pressure Liquid / methods. DNA Mutational Analysis / methods. Genes, Neurofibromatosis 2. Neurofibromatosis 2 / genetics. Neuroma, Acoustic / genetics. Point Mutation

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  • (PMID = 18554169.001).
  • [ISSN] 1090-6576
  • [Journal-full-title] Genetic testing
  • [ISO-abbreviation] Genet. Test.
  • [Language] eng
  • [Publication-type] Evaluation Studies; Journal Article
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / DNA Primers
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51. 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

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

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  • (PMID = 20445339.001).
  • [ISSN] 1598-6535
  • [Journal-full-title] The Korean journal of laboratory medicine
  • [ISO-abbreviation] Korean J Lab Med
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] Korea (South)
  • [Chemical-registry-number] 0 / RNA Splice Sites
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53. Akhmametyeva EM, Mihaylova MM, Luo H, Kharzai S, Welling DB, Chang LS: Regulation of the neurofibromatosis 2 gene promoter expression during embryonic development. Dev Dyn; 2006 Oct;235(10):2771-85
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  • [Title] Regulation of the neurofibromatosis 2 gene promoter expression during embryonic development.
  • Mutations in the Neurofibromatosis 2 (NF2) gene are associated with predisposition to vestibular schwannomas, spinal schwannomas, meningiomas, and ependymomas.
  • Presently, how NF2 is expressed during embryonic development and in the tissues affected by neurofibromatosis type 2 (NF2) has not been well defined.
  • To examine NF2 expression in vivo, we generated transgenic mice carrying a 2.4-kb NF2 promoter driving beta-galactosidase (beta-gal) with a nuclear localization signal.
  • Whole-mount embryo staining revealed that the NF2 promoter directed beta-gal expression as early as embryonic day E5.5.
  • The beta-gal staining pattern in the embryonic tissues was corroborated by in situ hybridization analysis of endogenous Nf2 RNA expression.
  • Importantly, we observed strong NF2 promoter activity in the developing brain and in sites containing migrating cells including the neural tube closure, branchial arches, dorsal aorta, and paraaortic splanchnopleura.
  • Furthermore, we noted a transient change of NF2 promoter activity during neural crest cell migration.
  • In addition, we detected considerable NF2 promoter activity in various NF2-affected tissues such as acoustic ganglion, trigeminal ganglion, spinal ganglia, optic chiasma, the ependymal cell-containing tela choroidea, and the pigmented epithelium of the retina.
  • The NF2 promoter expression pattern during embryogenesis suggests a specific regulation of the NF2 gene during neural crest cell migration and further supports the role of merlin in cell adhesion, motility, and proliferation during development.

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  • [Copyright] (c) 2006 Wiley-Liss, Inc.
  • (PMID = 16894610.001).
  • [ISSN] 1058-8388
  • [Journal-full-title] Developmental dynamics : an official publication of the American Association of Anatomists
  • [ISO-abbreviation] Dev. Dyn.
  • [Language] eng
  • [Grant] United States / NCI NIH HHS / CA / CA16058
  • [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 / DNA, Complementary; 0 / Neurofibromin 2; 0 / Recombinant Fusion Proteins; EC 3.2.1.23 / beta-Galactosidase
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54. Hadfield KD, Smith MJ, Urquhart JE, Wallace AJ, Bowers NL, King AT, Rutherford SA, Trump D, Newman WG, Evans DG: Rates of loss of heterozygosity and mitotic recombination in NF2 schwannomas, sporadic vestibular schwannomas and schwannomatosis schwannomas. Oncogene; 2010 Nov 25;29(47):6216-21
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  • [Title] Rates of loss of heterozygosity and mitotic recombination in NF2 schwannomas, sporadic vestibular schwannomas and schwannomatosis schwannomas.
  • Biallelic inactivation of the NF2 gene occurs in the majority of schwannomas.
  • We have performed DNA sequence and dosage analysis of the NF2 gene in a panel of 239 schwannoma tumours: 97 neurofibromatosis type 2 (NF2)-related schwannomas, 104 sporadic vestibular schwannomas (VS) and 38 schwannomatosis-related schwannomas.
  • In total, we identified germline NF2 mutations in 86 out of 97 (89%) NF2 patients and a second mutational event in 77 out of 97 (79%).
  • Among sporadic VS, at least one NF2 mutation was identified by sequence analysis or MLPA in 65 out of 98 (66%) tumours.
  • This study shows that MR is a mechanism of LOH in NF2 and SMARCB1-negative schwannomatosis-related schwannomas, occurring less frequently in sporadic vs. We found no evidence of MR in SMARCB1-positive schwannomatosis, suggesting that susceptibility to MR varies according to the disease context.
  • [MeSH-major] Loss of Heterozygosity / genetics. Mitosis / genetics. Neurofibromatosis 2 / genetics. Recombination, Genetic / genetics
  • [MeSH-minor] Adolescent. Adult. Child. Chromosome Breakpoints. Gene Dosage / genetics. Genes, Neurofibromatosis 2. Homozygote. Humans. Neurilemmoma / genetics. Neurofibromatoses / genetics. Polymorphism, Single Nucleotide / genetics. Skin Neoplasms / genetics. Young Adult

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  • (PMID = 20729918.001).
  • [ISSN] 1476-5594
  • [Journal-full-title] Oncogene
  • [ISO-abbreviation] Oncogene
  • [Language] eng
  • [Publication-type] Journal Article; Research Support, Non-U.S. Gov't
  • [Publication-country] England
  • [Chemical-registry-number] Schwannomatosis
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55. Evans DG, Maher ER, Baser ME: Age related shift in the mutation spectra of germline and somatic NF2 mutations: hypothetical role of DNA repair mechanisms. J Med Genet; 2005 Aug;42(8):630-2

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Age related shift in the mutation spectra of germline and somatic NF2 mutations: hypothetical role of DNA repair mechanisms.
  • We compared the ratio of frameshift to nonsense mutations in three diseases that are related to the NF2 tumour suppressor gene: classic neurofibromatosis 2 (NF2), caused by germline NF2 mutations; mosaic NF2; and unilateral sporadic vestibular schwannoma (USVS), caused by somatic NF2 inactivation.
  • Nonsense mutations predominated in both classic and mosaic NF2, but the ratio of nonsense to frameshift mutations was reversed in USvs. Moreover, in USVS patients, the ratio of somatic frameshift to nonsense mutations increased significantly with increasing age at diagnosis.
  • Similar studies for other familial cancer genes may provide further evidence for this hypothesis.
  • [MeSH-major] Codon, Nonsense. DNA Repair / physiology. Frameshift Mutation. Genes, Neurofibromatosis 2. Germ-Line Mutation
  • [MeSH-minor] Age Factors. Genetic Predisposition to Disease. Humans. Mosaicism. Neuroma, Acoustic / genetics

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  • (PMID = 16061561.001).
  • [ISSN] 1468-6244
  • [Journal-full-title] Journal of medical genetics
  • [ISO-abbreviation] J. Med. Genet.
  • [Language] eng
  • [Publication-type] Comparative Study; Journal Article
  • [Publication-country] England
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  • [Other-IDs] NLM/ PMC1736122
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56. Lustig LR, Yeagle J, Driscoll CL, Blevins N, Francis H, Niparko JK: Cochlear implantation in patients with neurofibromatosis type 2 and bilateral vestibular schwannoma. Otol Neurotol; 2006 Jun;27(4):512-8
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Cochlear implantation in patients with neurofibromatosis type 2 and bilateral vestibular schwannoma.
  • OBJECTIVE: To investigate the results of cochlear implantation in patients with neurofibromatosis Type 2 (NF2) and bilateral vestibular schwannoma.
  • PATIENTS: Seven patients with NF2 and bilateral vestibular schwannoma who lost hearing in at least one ear after treatment of their tumor (surgery or radiation therapy).
  • INTERVENTION: Cochlear implantation after treatment of their vestibular schwannoma.
  • MAIN OUTCOME MEASURE: Postimplantation audiometric scores (pure-tone average thresholds, consonant-nucleus-consonant (CNC) words/phonemes, Central Institute for the Deaf (CID) sentences, Hearing in Noise Test (HINT) quiet/noise, and Monosyllable, Trochee, Spondee (MTS) recognition/category tests), patient satisfaction, and device use patterns.
  • CONCLUSION: In selected cases of deafness in patients with NF2 where there has been anatomic preservation of the auditory nerve after acoustic neuroma resection or radiation therapy, cochlear implantation may offer some improvement in communication skills, including the possibility of open-set speech communication in some patients.
  • These results compare favorably to the auditory brainstem implant offering an alternative for hearing rehabilitation in patients with NF2.
  • [MeSH-major] Cochlear Implantation / methods. Hearing Loss, Sensorineural / etiology. Hearing Loss, Sensorineural / rehabilitation. Neurofibromatosis 2 / complications. Neuroma, Acoustic / complications


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

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  • (PMID = 18974932.001).
  • [ISSN] 1573-7373
  • [Journal-full-title] Journal of neuro-oncology
  • [ISO-abbreviation] J. Neurooncol.
  • [Language] ENG
  • [Grant] United States / NINDS NIH HHS / NS / NS024279-20A29010; United States / NINDS NIH HHS / NS / R01 NS040527; United States / NINDS NIH HHS / NS / 1 R01 NS 40527; United States / NINDS NIH HHS / NS / P01 NS024279-20A29010
  • [Publication-type] Journal Article; Research Support, N.I.H., Extramural
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / Tumor Suppressor Protein p53; 94ZLA3W45F / Arginine; 9DLQ4CIU6V / Proline
  • [Other-IDs] NLM/ NIHMS112326; NLM/ PMC2692701
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58. Neff BA, Wiet RM, Lasak JM, Cohen NL, Pillsbury HC, Ramsden RT, Welling DB: Cochlear implantation in the neurofibromatosis type 2 patient: long-term follow-up. Laryngoscope; 2007 Jun;117(6):1069-72
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Cochlear implantation in the neurofibromatosis type 2 patient: long-term follow-up.
  • OBJECTIVE: To evaluate the long-term hearing outcomes of neurofibromatosis type 2 (NF2) patients with cochlear implants.
  • METHODS: Retrospective analysis of cochlear implant performance in NF2 patients using open- and closed-set speech perception testing.
  • RESULTS: Patients with NF2-associated bilateral vestibular schwannomas frequently become profoundly deaf.
  • Frequently, tumor size or poor preoperative hearing status can require a surgical approach that leaves the patient with a profound, bilateral sensorineural hearing loss.
  • If the cochlear nerve is preserved anatomically after vestibular schwannoma surgery, and if promontory stimulation confirms the functionality of the cochlear nerve, then cochlear implantation is an excellent option to restore hearing.
  • We present six cochlear implant patients with NF2 who attained a significant improvement in open- and closed-set speech understanding with a mean follow-up of 7.9 (range: 5-13) years after surgery.
  • CONCLUSION: Early surgical intervention for vestibular schwannomas in NF2 patients when the cochlear nerve can be spared is an important consideration to allow for possible cochlear implantation.
  • [MeSH-major] Cochlear Implantation. Hearing Loss, Sensorineural / etiology. Hearing Loss, Sensorineural / surgery. Neurofibromatosis 2 / complications. Neuroma, Acoustic / etiology


59. 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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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [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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60. Nunes F, Shen Y, Niida Y, Beauchamp R, Stemmer-Rachamimov AO, Ramesh V, Gusella J, MacCollin M: Inactivation patterns of NF2 and DAL-1/4.1B (EPB41L3) in sporadic meningioma. Cancer Genet Cytogenet; 2005 Oct 15;162(2):135-9
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Inactivation patterns of NF2 and DAL-1/4.1B (EPB41L3) in sporadic meningioma.
  • The neurofibromatosis 2 (NF2) locus is inactivated in 50-60% of sporadic meningiomas, but the genetic basis of sporadic meningiomas not inactivated at the NF2 locus remains unclear.
  • Using microsatellite markers, we studied 63 sporadic meningiomas to determine loss of heterozygosity (LOH) at the NF2 and DAL-1/4.1B loci.
  • Forty-one of 62 informative tumors showed LOH at the NF2 locus (66%) while only 12 of 62 informative tumors (19%) showed LOH of DAL-1/4.1B.
  • Eleven of 12 (92%) tumors with DAL-1/4.1B LOH also had NF2 LOH.
  • Furthermore, we found the majority of meningiomas developed monosomy rather than isodisomy at the NF2 and DAL-1/4.1B loci as the mechanism for LOH.
  • [MeSH-minor] Chromosomes, Human, Pair 18. Chromosomes, Human, Pair 22. Genes, Neurofibromatosis 2. Genes, Tumor Suppressor. Humans. Microfilament Proteins. Microsatellite Repeats

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  • (PMID = 16213361.001).
  • [ISSN] 0165-4608
  • [Journal-full-title] Cancer genetics and cytogenetics
  • [ISO-abbreviation] Cancer Genet. Cytogenet.
  • [Language] eng
  • [Grant] United States / NINDS NIH HHS / NS / NS24279
  • [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.; Research Support, U.S. Gov't, P.H.S.
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / EPB41L3 protein, human; 0 / Membrane Proteins; 0 / Microfilament Proteins; 0 / Tumor Suppressor Proteins
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61. 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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62. Vincenti V, Pasanisi E, Guida M, Di Trapani G, Sanna M: Hearing rehabilitation in neurofibromatosis type 2 patients: cochlear versus auditory brainstem implantation. Audiol Neurootol; 2008;13(4):273-80
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Hearing rehabilitation in neurofibromatosis type 2 patients: cochlear versus auditory brainstem implantation.
  • OBJECTIVE: We aimed to evaluate and compare the auditory performance of neurofibromatosis type 2 (NF2) patients with bilateral total deafness fitted with cochlear or auditory brainstem implants.
  • Nine patients suffering from NF2 who underwent hearing rehabilitation by means of cochlear (4 patients) or auditory brainstem (5 patients) implantation participated in the study.
  • CONCLUSIONS: Our study confirmed literature data reporting that cochlear implantation may offer open-set speech communication in NF2 patients.
  • [MeSH-major] Auditory Brain Stem Implants. Cochlear Implantation / methods. Deafness / rehabilitation. Neurofibromatosis 2 / rehabilitation. Neuroma, Acoustic / rehabilitation. Speech Reception Threshold Test


63. Kalamarides M, Stemmer-Rachamimov AO, Takahashi M, Han ZY, Chareyre F, Niwa-Kawakita M, Black PM, Carroll RS, Giovannini M: Natural history of meningioma development in mice reveals: a synergy of Nf2 and p16(Ink4a) mutations. Brain Pathol; 2008 Jan;18(1):62-70
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  • [Title] Natural history of meningioma development in mice reveals: a synergy of Nf2 and p16(Ink4a) mutations.
  • Meningiomas account for approximately 30% of all primary central nervous system tumors and are found in half of neurofibromatosis type 2 patients often causing significant morbidity.
  • Biallelic inactivation of the neurofibromatosis 2 (NF2) tumor suppressor is associated with meningioma formation in all NF2 patients and 60% of sporadic meningiomas.
  • Previously, we inactivated Nf2 in homozygous conditional knockout mice by adenoviral Cre delivery and showed that Nf2 loss in arachnoid cells is rate-limiting for meningioma formation.
  • [MeSH-minor] Animals. Cell Proliferation. Disease Models, Animal. Disease Progression. Drug Screening Assays, Antitumor / methods. Female. Gene Deletion. Genetic Predisposition to Disease / genetics. Humans. Immunohistochemistry. Magnetic Resonance Imaging. Male. Mice. Mice, Knockout. Mice, Mutant Strains. Mutation / genetics. Neoplasm Invasiveness / genetics. Neurofibromatosis 2 / complications. Neurofibromatosis 2 / genetics. Neurofibromatosis 2 / physiopathology

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  • [Cites] Brain Pathol. 2005 Apr;15(2):109-15 [15912882.001]
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  • (PMID = 17924978.001).
  • [ISSN] 1015-6305
  • [Journal-full-title] Brain pathology (Zurich, Switzerland)
  • [ISO-abbreviation] Brain Pathol.
  • [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] Switzerland
  • [Chemical-registry-number] 0 / Cyclin-Dependent Kinase Inhibitor p16; 0 / Neurofibromin 2
  • [Other-IDs] NLM/ PMC2253711
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64. Meijer OW, Vandertop WP, Lagerwaard FJ, Slotman BJ: Linear accelerator-based stereotactic radiosurgery for bilateral vestibular schwannomas in patients with neurofibromatosis type 2. Neurosurgery; 2008 May;62(5 Suppl):A37-42; discussion A42-3
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Linear accelerator-based stereotactic radiosurgery for bilateral vestibular schwannomas in patients with neurofibromatosis type 2.
  • OBJECTIVE: Patients with neurofibromatosis Type 2 (NF2) patients typically have bilateral vestibular schwannomas (VS) and are at risk for developing bilateral deafness, bilateral trigeminal, and bilateral facial nerve function loss.
  • Previous reports suggested that treatment outcomes in these patients are worse compared with those for patients with sporadic solitary vs. Very few reports, however, have been published on linear accelerator-based radiosurgery (RS) and stereotactic radiation therapy (SRT) in patients with NF2.
  • In particular, in patients with NF2 who already have unilateral hearing loss, avoidance of hearing loss on the opposite side poses a challenge for RS and SRT.
  • We studied our treatment results in patients with NF2 with bilateral VS, treated with linear accelerator-based RS and SRT.
  • METHODS: In 204 patients with VS treated with RS or SRT in Amsterdam starting from 1992, we identified 25 patients with NF2 who had bilateral tumors.
  • CONCLUSION: In this largest series in the literature of linear accelerator-based RS and SRT for VS NF2 patients, excellent local control rates were found with minimal facial and trigeminal nerve toxicity.
  • [MeSH-major] Neurofibromatosis 2 / complications. Neurofibromatosis 2 / surgery. Neuroma, Acoustic / complications. Neuroma, Acoustic / surgery. Radiosurgery / methods

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  • (PMID = 18580779.001).
  • [ISSN] 1524-4040
  • [Journal-full-title] Neurosurgery
  • [ISO-abbreviation] Neurosurgery
  • [Language] eng
  • [Publication-type] Comparative Study; Journal Article
  • [Publication-country] United States
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65. Wang CP, Hsu WC, Young YH: Vestibular evoked myogenic potentials in neurofibromatosis 2. Ann Otol Rhinol Laryngol; 2005 Jan;114(1 Pt 1):69-73
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Vestibular evoked myogenic potentials in neurofibromatosis 2.
  • Neurofibromatosis 2 (NF2) is characterized by bilateral vestibular neurofibromas.
  • Although the facial nerve, the cochlear nerve, and the superior division of the vestibular nerve can be evaluated before surgery, whether the inferior division of the vestibular nerve is affected remains undetermined without an operation.
  • A total of 7 patients with NF2 (2 men and 5 women) underwent pure tone audiometry, caloric testing, vestibular evoked myogenic potential (VEMP) testing, and magnetic resonance imaging.
  • The tumor size of NF2 is related to the caloric response, but is unrelated to the mean hearing level or VEMPs.
  • In conclusion, NF2 originates from the superior vestibular nerve more often than the inferior vestibular nerve.
  • It more often infiltrates the cochlear nerve than the inferior vestibular nerve.
  • [MeSH-major] Evoked Potentials, Auditory / physiology. Neurofibromatosis 2 / physiopathology. Neuroma, Acoustic / physiopathology. Vestibular Function Tests

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  • (PMID = 15697166.001).
  • [ISSN] 0003-4894
  • [Journal-full-title] The Annals of otology, rhinology, and laryngology
  • [ISO-abbreviation] Ann. Otol. Rhinol. Laryngol.
  • [Language] eng
  • [Publication-type] Journal Article; Research Support, Non-U.S. Gov't
  • [Publication-country] United States
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66. Taddei A, Castiglione F, Rossi Degl'Innocenti D, Buccoliero AM, Garbini F, Tommasi C, Freschi G, Bechi P, Messerini L, Taddei GL: NF2 expression levels of gastrointestinal stromal tumors: a quantitative real-time PCR study. Tumori; 2008 Jul-Aug;94(4):551-5
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] NF2 expression levels of gastrointestinal stromal tumors: a quantitative real-time PCR study.
  • This has complicated the differential diagnosis of the neoplasm from tumors of smooth muscle origin.
  • Radiation exposure, hormonal and genetic factors, particularly neurofibromatosis 2, have been implicated in their development and growth.
  • GIST initiation, either in NF2-associated or in sporadic cases, is linked to inactivation of members of the proteins 4.1 superfamily.
  • The majority of the mutations identified in the NF2 gene result in a truncated protein and are clinically associated with a severe phenotype.
  • We compared NF2 gene expression in 5 cases with gastrointestinal stromal tumors by quantitative real-time polymerase chain reaction analysis.
  • NF2 gene mRNA expression was assessed in fresh tissue of stomach from 5 consecutive patients.
  • We detected no alterations in NF2 gene expression in the quantitative analyses of the 5 tumors.

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  • (PMID = 18822692.001).
  • [ISSN] 0300-8916
  • [Journal-full-title] Tumori
  • [ISO-abbreviation] Tumori
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] Italy
  • [Chemical-registry-number] 0 / Biomarkers, Tumor; 0 / Neurofibromin 2; 0 / RNA, Messenger
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67. Kambe A, Kamitani H, Watanabe T, Oka A, Inagaki H, Ishii T, Ueki K: A non-NF2 case of schwannomas of vestibular and trigeminal nerves with different genetic alterations of NF2 gene: case report. Surg Neurol; 2005 Jan;63(1):62-4; discussion 64-5
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] A non-NF2 case of schwannomas of vestibular and trigeminal nerves with different genetic alterations of NF2 gene: case report.
  • BACKGROUND: We report a patient with 2 separate schwannomas, a vestibular schwannoma and a trigeminal schwannoma, that were attached to each other and appeared to be a single tumor on imaging studies.
  • CASE DESCRIPTION: The patient, without any family history of neurofibromatosis, presented with a progressive hearing loss and mild left facial nerve palsy.
  • Surgical exposure revealed that the tumor consisted of 2 "kissing" schwannomas, a trigeminal and vestibular schwannoma.
  • Molecular genetic analysis detected a 1-base pair deletion at exon 10 of the neurofibromatosis type 2 (NF2) gene in the trigeminal schwannoma, but not in the acoustic schwannoma.
  • CONCLUSION: Multiple schwannomas in non-NF2 patients are extremely rare, and possible causes include simple coincidence or germline genetic alteration of adjacent gene on chromosome 22q, similar to the cause recently suggested in familial schwannomatosis.
  • [MeSH-major] Genes, Neurofibromatosis 2. Neuroma, Acoustic / genetics. Trigeminal Nerve / pathology. Trigeminal Nerve Diseases / genetics. Vestibular Nerve / pathology

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  • (PMID = 15639530.001).
  • [ISSN] 0090-3019
  • [Journal-full-title] Surgical neurology
  • [ISO-abbreviation] Surg Neurol
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] United States
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68. Baser ME, Mautner VF, Parry DM, Evans DG: Methodological issues in longitudinal studies: vestibular schwannoma growth rates in neurofibromatosis 2. J Med Genet; 2005 Dec;42(12):903-6
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Methodological issues in longitudinal studies: vestibular schwannoma growth rates in neurofibromatosis 2.
  • Four longitudinal studies of vestibular schwannoma (VS) growth rates in neurofibromatosis 2 (NF2) have yielded very different results on the relationship of VS growth rates to age.
  • We reanalysed data from two of the longitudinal studies and used data from the population based United Kingdom NF2 Registry to determine the most likely reason for the different results and the actual relationship of VS growth rates to age.
  • We found that the eligibility criterion in one study caused selection bias for slower growing vs. The proper interpretation of the results from the four studies is that VS growth rates in NF2 are highly variable but tend to decrease with increasing age.
  • Clinical trials for VS in NF2 should focus on younger patients because VS growth rates tend to decrease with increasing age, and because faster growing VS are more likely to be excised with increasing age than slower growing vs.
  • [MeSH-major] Neurofibromatosis 2 / genetics. Neuroma, Acoustic / diagnosis
  • [MeSH-minor] Age Factors. Aging. Genes, Neurofibromatosis 2. Humans. Longitudinal Studies. Magnetic Resonance Imaging. Research Design

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  • [Cites] J Neurosurg. 2001 Jun;94(6):922-6 [11409521.001]
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  • (PMID = 15831594.001).
  • [ISSN] 1468-6244
  • [Journal-full-title] Journal of medical genetics
  • [ISO-abbreviation] J. Med. Genet.
  • [Language] eng
  • [Publication-type] Journal Article; Review
  • [Publication-country] England
  • [Number-of-references] 15
  • [Other-IDs] NLM/ PMC1735973
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69. Thaxton C, Lopera J, Bott M, Fernandez-Valle C: Neuregulin and laminin stimulate phosphorylation of the NF2 tumor suppressor in Schwann cells by distinct protein kinase A and p21-activated kinase-dependent pathways. Oncogene; 2008 Apr 24;27(19):2705-15
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Neuregulin and laminin stimulate phosphorylation of the NF2 tumor suppressor in Schwann cells by distinct protein kinase A and p21-activated kinase-dependent pathways.
  • Mutations in the neurofibromatosis type 2 (NF2) gene cause formation of schwannomas and other tumors in the nervous system.
  • The NF2 protein, Schwannomin/Merlin, is a cytoskeleton-associated tumor suppressor regulated by phosphorylation at serine 518 (S518).
  • Moreover, they identify ErbB2, ErbB3 and beta1 integrins as potential therapeutic targets for NF2.


70. Phi JH, Kim DG, Chung HT, Lee J, Paek SH, Jung HW: Radiosurgical treatment of vestibular schwannomas in patients with neurofibromatosis type 2: tumor control and hearing preservation. Cancer; 2009 Jan 15;115(2):390-8
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Radiosurgical treatment of vestibular schwannomas in patients with neurofibromatosis type 2: tumor control and hearing preservation.
  • BACKGROUND: The radiosurgical treatment of vestibular schwannomas in patients with neurofibromatosis type 2 (NF2) is controversial.
  • CONCLUSIONS: Gamma knife radiosurgery for vestibular schwannomas in NF2 patients provided 5-year tumor control in approximately two-thirds of patients and preserved serviceable hearing in approximately one-third.
  • Radiosurgery should be included in treatment options for NF2 patients.
  • [MeSH-major] Cranial Nerve Neoplasms / surgery. Deafness / prevention & control. Neuroma, Acoustic / surgery. Radiosurgery
  • [MeSH-minor] Adolescent. Adult. Age Factors. Female. Humans. Male. Middle Aged. Neurofibromatosis 2 / complications. Prognosis

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  • [Copyright] Copyright (c) 2009 American Cancer Society.
  • (PMID = 19109818.001).
  • [ISSN] 0008-543X
  • [Journal-full-title] Cancer
  • [ISO-abbreviation] Cancer
  • [Language] eng
  • [Publication-type] Evaluation Studies; Journal Article; Research Support, Non-U.S. Gov't
  • [Publication-country] United States
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71. 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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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [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

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  • (PMID = 17204104.001).
  • [ISSN] 0385-2407
  • [Journal-full-title] The Journal of dermatology
  • [ISO-abbreviation] J. Dermatol.
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] Japan
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72. Rowe J, Radatz M, Kemeny A: Radiosurgery for type II neurofibromatosis. Prog Neurol Surg; 2008;21:176-82
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  • [Title] Radiosurgery for type II neurofibromatosis.
  • A summary of our radiosurgical experience treating type II neurofibromatosis (NF2) vestibular schwannomas (VSs), based on a retrospective consecutive series of 122 tumours in 92 patients, with an extended series of a further 22 patients (906 patient-years of follow-up) to investigate the risk of malignancy after radiosurgery.
  • With current techniques, we estimate that 8 years after radiosurgery for NF2 VS, 20% of patients will have required further treatment, 50% will be well controlled, and in 30% there will have been some concern about control, but they will have been managed conservatively.
  • This is less than the previously reported rate of spontaneously developing malignant gliomas in NF2.
  • Whilst the clinical results are far worse than those achieved treating sporadic tumours, this applies equally to the results of surgery or observation when treating NF2 tumours.
  • It is important therefore that these patients are given advice specific for NF2.
  • Considering this, we believe that radiosurgery remains a valuable minimally invasive treatment option for selected NF2 patients.
  • [MeSH-major] Neurofibromatosis 2 / pathology. Neurofibromatosis 2 / surgery. Radiosurgery

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  • (PMID = 18810217.001).
  • [ISSN] 0079-6492
  • [Journal-full-title] Progress in neurological surgery
  • [ISO-abbreviation] Prog Neurol Surg
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] Switzerland
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73. Gladden AB, Hebert AM, Schneeberger EE, McClatchey AI: The NF2 tumor suppressor, Merlin, regulates epidermal development through the establishment of a junctional polarity complex. Dev Cell; 2010 Nov 16;19(5):727-39
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] The NF2 tumor suppressor, Merlin, regulates epidermal development through the establishment of a junctional polarity complex.
  • The neurofibromatosis type 2 (NF2) tumor suppressor, Merlin, is a FERM (Four point one, Ezrin, Radixin, Moesin) domain-containing protein whose loss results in defective morphogenesis and tumorigenesis in multiple tissues.

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  • [Copyright] Copyright © 2010 Elsevier Inc. All rights reserved.
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  • (PMID = 21074722.001).
  • [ISSN] 1878-1551
  • [Journal-full-title] Developmental cell
  • [ISO-abbreviation] Dev. Cell
  • [Language] ENG
  • [Grant] United States / NCI NIH HHS / CA / R01CA113733; United States / NCI NIH HHS / CA / CA124030-03; United States / NCI NIH HHS / CA / CA113733-01; United States / NHLBI NIH HHS / HL / R01 HL036781; United States / NCI NIH HHS / CA / F32 CA124030-03; United States / NCI NIH HHS / CA / F32 CA124030; United States / NCI NIH HHS / CA / R01 CA113733-05S1; United States / NCI NIH HHS / CA / 5F32CA124030; United States / NCI NIH HHS / CA / R01 CA113733-01; United States / NCI NIH HHS / CA / R01 CA113733; United States / NIGMS NIH HHS / GM / R01 GM087558; United States / NCI NIH HHS / CA / CA113733-05S1
  • [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 / Cell Adhesion Molecules; 0 / Neurofibromin 2; 0 / Pard3 protein, mouse; 0 / Recombinant Fusion Proteins; 0 / alpha Catenin
  • [Other-IDs] NLM/ NIHMS248552; NLM/ PMC3033574
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74. Seo PS, Quinn BJ, Khan AA, Zeng L, Takoudis CG, Hanada T, Bolis A, Bolino A, Chishti AH: Identification of erythrocyte p55/MPP1 as a binding partner of NF2 tumor suppressor protein/Merlin. Exp Biol Med (Maywood); 2009 Mar;234(3):255-62
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  • [Title] Identification of erythrocyte p55/MPP1 as a binding partner of NF2 tumor suppressor protein/Merlin.
  • Neurofibromatosis type 2 is an inherited disorder characterized by the development of benign and malignant tumors on the auditory nerves and central nervous system with symptoms including hearing loss, poor balance, skin lesions, and cataracts.
  • Here, we report a novel protein-protein interaction between NF2 protein (merlin or schwannomin) and erythrocyte p55, also designated as MPP1.
  • The FERM domain of NF2 protein binds directly to p55, and surface plasmon resonance analysis indicates a specific interaction with a kD value of 3.7 nM.
  • We developed a specific monoclonal antibody against human erythrocyte p55, and found that both p55 and NF2 proteins are colocalized in the non-myelin-forming Schwann cells.
  • This finding suggests that the p55-NF2 protein interaction may play a functional role in the regulation of apico-basal polarity and tumor suppression pathways in non-erythroid cells.

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  • (PMID = 19144871.001).
  • [ISSN] 1535-3702
  • [Journal-full-title] Experimental biology and medicine (Maywood, N.J.)
  • [ISO-abbreviation] Exp. Biol. Med. (Maywood)
  • [Language] ENG
  • [Grant] Italy / Telethon / / TCR05002; United States / NHLBI NIH HHS / HL / R01 HL060755; United States / NHLBI NIH HHS / HL / HL60755; United States / NCI NIH HHS / CA / CA 94414; United States / NCI NIH HHS / CA / R01 CA094414
  • [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] England
  • [Chemical-registry-number] 0 / Antibodies, Monoclonal; 0 / Blood Proteins; 0 / MPP1 protein, human; 0 / Membrane Proteins; 0 / Neurofibromin 2
  • [Other-IDs] NLM/ NIHMS563000; NLM/ PMC3959803
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75. Sachdeva R, Rothner DA, Traboulsi EI, Hayden BC, Rychwalski PJ: Astrocytic hamartoma of the optic disc and multiple café-au-lait macules in a child with neurofibromatosis type 2. Ophthalmic Genet; 2010 Dec;31(4):209-14
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  • [Title] Astrocytic hamartoma of the optic disc and multiple café-au-lait macules in a child with neurofibromatosis type 2.
  • Neurofibromatosis type 2 (NF2) is a heritable syndrome characterized by multifocal proliferation of neural crest-derived cells.
  • The characteristic and diagnostic finding of NF2 is bilateral vestibular nerve schwannomas (acoustic neuromas).
  • In addition to other tumors involving the central and peripheral nervous systems, ophthalmic manifestations, including posterior subcapsular and peripheral cortical cataracts, optic nerve meningiomas, epiretinal membrane, and combined pigment epithelial and retinal hamartomas, are common to NF2.
  • Herein we present an 8-year-old girl with NF2 and astrocytic hamartoma of the optic disc.
  • However, neuroimaging revealed bilateral acoustic neuromas, leading to a clinical diagnosis of NF2.
  • Subsequent molecular genetic analysis confirmed the NF2 diagnosis.
  • Multiple CAL macules and astrocytic hamartomas, while associated with NF1, are rarely associated with NF2.
  • Specifically, we are not aware of any reported cases of optic disc astrocytic hamartoma in the setting of NF2.
  • [MeSH-major] Astrocytes / pathology. Hamartoma / complications. Neurofibromatosis 2 / complications. Optic Disk / pathology. Optic Nerve Diseases / complications

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  • (PMID = 21067482.001).
  • [ISSN] 1744-5094
  • [Journal-full-title] Ophthalmic genetics
  • [ISO-abbreviation] Ophthalmic Genet.
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] England
  • [Chemical-registry-number] 0 / Neurofibromin 2
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76. Bosch MM, Boltshauser E, Harpes P, Landau K: Ophthalmologic findings and long-term course in patients with neurofibromatosis type 2. Am J Ophthalmol; 2006 Jun;141(6):1068-1077
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  • [Title] Ophthalmologic findings and long-term course in patients with neurofibromatosis type 2.
  • PURPOSE: To evaluate ophthalmologic findings and long-term course in patients with neurofibromatosis type 2 (NF2).
  • STUDY POPULATION: Thirty referred patients with NF2 were enrolled from 1991 to 2003 and underwent at least one thorough neuroophthalmologic examination.
  • MAIN OUTCOME MEASURES: Visual function, structural ocular abnormalities, onset and type of presenting NF2-related symptoms, and number of central nervous system tumors.
  • RESULTS: Initial symptoms for patients with early-onset NF2 mostly comprised ophthalmologic symptoms (n = 7) and lower motor neuron extremity weakness (n = 6), as opposed to eighth nerve impairment (n = 11) in late disease onset.
  • NF2-specific ocular findings were noted in 83% of all patients (94% childhood onset; 67% adult onset): 67% had cataracts, 40% epiretinal membranes, 3% hamartoma, 13% disk gliomas, and 27% optic nerve sheath meningiomas.
  • Significantly more patients with early onset of symptoms developed multiple central nervous system tumors (P = .004) and showed a higher amount of NF2-specific findings (P = .015).
  • CONCLUSIONS: Initial manifestations of NF2 differ between children and adults.
  • NF2-specific ophthalmologic findings can help establish the diagnosis.
  • Symptom onset at a young age is clearly a risk factor for marked disease progression.
  • These patients should be carefully followed because survival rates have increased, and vision becomes increasingly important as the disease progresses.
  • [MeSH-major] Eye Diseases / diagnosis. Neurofibromatosis 2 / diagnosis
  • [MeSH-minor] Adolescent. Adult. Aged. Child. Disease Progression. Female. Follow-Up Studies. Humans. Magnetic Resonance Imaging. Male. Middle Aged. Phenotype. Retrospective Studies. Visual Acuity

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  • (PMID = 16765675.001).
  • [ISSN] 0002-9394
  • [Journal-full-title] American journal of ophthalmology
  • [ISO-abbreviation] Am. J. Ophthalmol.
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] United States
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77. 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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  • [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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78. Grönholm M, Teesalu T, Tyynelä J, Piltti K, Böhling T, Wartiovaara K, Vaheri A, Carpén O: Characterization of the NF2 protein merlin and the ERM protein ezrin in human, rat, and mouse central nervous system. Mol Cell Neurosci; 2005 Apr;28(4):683-93
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  • [Title] Characterization of the NF2 protein merlin and the ERM protein ezrin in human, rat, and mouse central nervous system.
  • The neurofibromatosis 2 (NF2) protein, merlin, is structurally related to the ERM (ezrin-radixin-moesin) protein family of membrane-cytoskeleton linkers and is mutated in nervous system tumors.
  • [MeSH-minor] Animals. Cells, Cultured. Central Nervous System / embryology. Central Nervous System / growth & development. Central Nervous System / metabolism. Cyclic AMP-Dependent Protein Kinases / metabolism. Cytoskeletal Proteins. DNA-Binding Proteins / biosynthesis. DNA-Binding Proteins / genetics. Embryo, Mammalian. Humans. Mice. Rats. Transcription Factors / biosynthesis. Transcription Factors / genetics

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  • (PMID = 15797715.001).
  • [ISSN] 1044-7431
  • [Journal-full-title] Molecular and cellular neurosciences
  • [ISO-abbreviation] Mol. Cell. Neurosci.
  • [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 / Cytoskeletal Proteins; 0 / DNA-Binding Proteins; 0 / ETV5 protein, human; 0 / Etv5 protein, mouse; 0 / Etv5 protein, rat; 0 / Neurofibromin 2; 0 / Phosphoproteins; 0 / Transcription Factors; 0 / ezrin; EC 2.7.11.11 / Cyclic AMP-Dependent Protein Kinases
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79. Horiguchi A, Zheng R, Shen R, Nanus DM: Inactivation of the NF2 tumor suppressor protein merlin in DU145 prostate cancer cells. Prostate; 2008 Jun 15;68(9):975-84
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  • [Title] Inactivation of the NF2 tumor suppressor protein merlin in DU145 prostate cancer cells.
  • BACKGROUND: The neurofibromatosis 2 (NF2) tumor suppressor gene product merlin is an important regulator of contact-dependent cell proliferation.

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  • (PMID = 18361411.001).
  • [ISSN] 0270-4137
  • [Journal-full-title] The Prostate
  • [ISO-abbreviation] Prostate
  • [Language] eng
  • [Grant] United States / NCI NIH HHS / CA / CA80240
  • [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 / Enzyme Inhibitors; 0 / Neurofibromin 2; 0 / RNA, Small Interfering; 9004-61-9 / Hyaluronic Acid; EC 2.7.11.1 / p21-Activated Kinases
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80. Selvanathan SK, Shenton A, Ferner R, Wallace AJ, Huson SM, Ramsden RT, Evans DG: Further genotype--phenotype correlations in neurofibromatosis 2. Clin Genet; 2010 Feb;77(2):163-70
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  • [Title] Further genotype--phenotype correlations in neurofibromatosis 2.
  • Neurofibromatosis 2 (NF2) is caused by mutations in the NF2 gene predisposing carriers to develop nervous system tumours.
  • Different NF2 mutations result in either loss/reduced protein function or gain of protein function (abnormally behaving mutant allele i.e. truncated protein potentially causing dominant negative effect).
  • We present a comparison between the clinical presentations of patients with mutations that are predicted to produce truncated protein (nonsense/frameshift mutations) to those that results in loss of protein expression (large deletions) to elucidate further genotype-phenotype correlations in NF2.
  • Patients with nonsense/frameshift mutations have a younger age of diagnosis and a higher prevalence/proportion of meningiomas (p = 0.002, p = 0.014), spinal tumours (p = 0.004, p = 0.004) and non-VIII cranial nerve tumours (p = 0.006, p = 0.003).
  • We also found younger age of diagnosis of vestibular schwannomas (p = 0.007), higher mean numbers of cutaneous lesions (p = 0.003) and spinal tumours (p = 0.006) in these patients.
  • With respect to NF2 symptoms, we found younger age of onset of hearing loss (p = 0.010), tinnitus (p = 0.002), paraesthesiae (p = 0.073), wasting and weakness (p = 0.001) and headaches (p = 0.049) in patients with nonsense/frameshift mutations.
  • Our comparison shows, additional, new correlations between mutations in the NF2 gene and the NF2 disease phenotype, and this further confirms that nonsense/frameshift mutations are associated with more severe NF2 symptoms.
  • Therefore patients with this class of NF2 mutation should be followed up closely.
  • [MeSH-major] Genes, Neurofibromatosis 2. Neurofibromatosis 2 / genetics

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  • (PMID = 19968670.001).
  • [ISSN] 1399-0004
  • [Journal-full-title] Clinical genetics
  • [ISO-abbreviation] Clin. Genet.
  • [Language] eng
  • [Publication-type] Journal Article; Research Support, Non-U.S. Gov't
  • [Publication-country] Denmark
  • [Chemical-registry-number] 0 / Genetic Markers
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81. Bosch MM, Wichmann WW, Boltshauser E, Landau K: Optic nerve sheath meningiomas in patients with neurofibromatosis type 2. Arch Ophthalmol; 2006 Mar;124(3):379-85
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  • [Title] Optic nerve sheath meningiomas in patients with neurofibromatosis type 2.
  • OBJECTIVE: To determine the prevalence of optic nerve sheath meningiomas (ONSMs) in patients with neurofibromatosis type 2 (NF2).
  • METHODS: An observational retrospective case series of 30 consecutive patients with NF2 referred to an academic ophthalmology unit from November 1, 1991, through August 31, 2003.
  • Diagnosis of ONSM was made based on typical neuroradiologic and clinical features in 7 patients and on histologic criteria in 1.
  • RESULTS: Eight of 30 patients harbored unilateral (n = 6) or bilateral (n = 2) ONSMs.
  • CONCLUSIONS: There is a strong association between ONSMs and NF2 that parallels the well-known association of optic nerve gliomas with NF1.
  • Physicians should be aware of the possibility that patients with ONSMs may also have NF2.
  • [MeSH-major] Meningioma / diagnosis. Neurofibromatosis 2 / diagnosis. Optic Nerve Neoplasms / diagnosis

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  • (PMID = 16534058.001).
  • [ISSN] 0003-9950
  • [Journal-full-title] Archives of ophthalmology (Chicago, Ill. : 1960)
  • [ISO-abbreviation] Arch. Ophthalmol.
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] United States
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82. 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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83. Samii M, Gerganov V, Samii A: Microsurgery management of vestibular schwannomas in neurofibromatosis type 2: indications and results. Prog Neurol Surg; 2008;21:169-75
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  • [Title] Microsurgery management of vestibular schwannomas in neurofibromatosis type 2: indications and results.
  • AIM: To analyze the senior author's experience and strategy of treatment of patients with neurofibromatosis type 2 (NF2), with particular emphasis on vestibular schwannoma (VS) surgery.
  • MATERIALS AND METHODS: Over a period of more than 35 years, the senior author (M.S.) has operated on more than 165 patients with NF2.
  • Bilateral hearing after surgery was preserved in 23% of the patients.
  • CONCLUSIONS: The goal of VS surgery in patients with NF2 should be complete removal but not at the expense of functional impairment.
  • [MeSH-major] Microsurgery. Neurofibromatosis 2 / pathology. Neurofibromatosis 2 / surgery

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  • (PMID = 18810216.001).
  • [ISSN] 0079-6492
  • [Journal-full-title] Progress in neurological surgery
  • [ISO-abbreviation] Prog Neurol Surg
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] Switzerland
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84. Fisher LM, Doherty JK, Lev MH, Slattery WH: Concordance of bilateral vestibular schwannoma growth and hearing changes in neurofibromatosis 2: neurofibromatosis 2 natural history consortium. Otol Neurotol; 2009 Sep;30(6):835-41
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  • [Title] Concordance of bilateral vestibular schwannoma growth and hearing changes in neurofibromatosis 2: neurofibromatosis 2 natural history consortium.
  • OBJECTIVE: To examine the relationship between the amount of change in size and associated hearing in bilateral vestibular schwannomas (VSs) in persons with neurofibromatosis 2 (NF2).
  • STUDY DESIGN: Annual magnetic resonance imaging and audiological examinations were conducted on NF2 patients.
  • SUBJECTS: Fifty-two patients enrolled in the NF2 Natural History Consortium in whom both VSs were untreated.
  • The 32 males and 20 females had a mean age at diagnosis of 26 years (SD = 18).
  • In 19 (37%) subjects, the NF2 germline mutation could not be identified in the blood (mosaic).
  • Vestibular schwannoma size changes were not associated with the corresponding hearing changes (Kendall's tau, p = not significant [n.s.]).
  • CONCLUSION: A significant 1-year change in VS size and hearing occurred in NF2 patients.
  • Clinically, tumor change or hearing deterioration on one VS cannot be used to predict changes in the other vs. This suggests that, although NF2 is a Mendelian disease, the germline genotype-phenotype relationship may resemble that of complex disorders.
  • [MeSH-major] Cranial Nerve Neoplasms / pathology. Hearing Loss / etiology. Neurofibromatosis 2 / complications. Neuroma, Acoustic / pathology
  • [MeSH-minor] Adolescent. Adult. Aged. Audiometry, Pure-Tone. Child. Child, Preschool. Disease Progression. Female. Genes, Neurofibromatosis 2 / physiology. Genotype. Humans. Magnetic Resonance Imaging. Male. Middle Aged. Neurofibromin 2 / blood. Neurofibromin 2 / genetics. Phenotype. Prospective Studies. Retrospective Studies. Young Adult

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  • (PMID = 19704365.001).
  • [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] Journal Article; Research Support, U.S. Gov't, Non-P.H.S.
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / Neurofibromin 2
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85. Sisk RA, Berrocal AM, Schefler AC, Dubovy SR, Bauer MS: Epiretinal membranes indicate a severe phenotype of neurofibromatosis type 2. Retina; 2010 Apr;30(4 Suppl):S51-8
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Epiretinal membranes indicate a severe phenotype of neurofibromatosis type 2.
  • PURPOSE: The purpose of this study was to describe a subset of severely affected patients with neurofibromatosis type 2 (NF2), multiple central nervous system tumors, and characteristic retinal lesions.
  • METHODS: This is a retrospective observational case series of 4 patients with NF2.
  • RESULTS: Ophthalmic signs were identified at a mean age of 6 years, and NF2 was diagnosed at a mean age of 11 years.
  • The biomicroscopic and optical coherence tomography features were distinct from secondary epiretinal membranes or combined hamartomas of the retina and retinal pigment epithelium and pathognomonic for NF2.
  • The ophthalmic manifestations were recognized before neurologic signs and led to the diagnosis of NF2 in 3 of the 4 patients.
  • Each patient had > or =2 central nervous system tumors at the time of diagnosis, and 3 of 4 eventually required neurosurgical interventions for symptomatic, compressive lesions at a mean age of 12 years.
  • CONCLUSION: Recognition of epiretinal membranes with a characteristic optical coherence tomography appearance may permit early diagnosis in neurologically asymptomatic children with a severe phenotype of NF2.
  • [MeSH-major] Brain Neoplasms / diagnosis. Epiretinal Membrane / diagnosis. Neurofibromatosis 2 / diagnosis


86. McLaughlin ME, Pepin SM, Maccollin M, Choopong P, Lessell S: Ocular pathologic findings of neurofibromatosis type 2. Arch Ophthalmol; 2007 Mar;125(3):389-94
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  • [Title] Ocular pathologic findings of neurofibromatosis type 2.
  • OBJECTIVE: To gain insight into the pathogenesis of neurofibromatosis type 2 (NF2) by investigating the ocular manifestations of this disease.
  • METHODS: Using standard histologic techniques, immunohistochemistry, and electron microscopy, we described the ocular pathologic findings of a 34-year-old woman who died from complications of NF2.
  • RESULTS: We identified 3 types of NF2-associated lesions: juvenile posterior subcapsular cataracts, epiretinal membranes, and an intrascleral schwannoma.
  • CONCLUSIONS: Our analysis indicated that dysplastic lens cells accumulate just anterior to the posterior lens capsule in juvenile posterior subcapsular cataracts and that dysplastic Müller cells may be a major component of NF2-associated epiretinal membranes.
  • Clinical Relevance Our findings suggest that a subset of glial cells with epithelial features (Schwann cells, ependymal cells, and Müller cells) may be particularly sensitive to loss of the NF2 gene.
  • Understanding the molecular basis for this sensitivity may lead to novel strategies for treating NF2.
  • [MeSH-major] Cataract / pathology. Epiretinal Membrane / pathology. Eye Neoplasms / pathology. Neurilemmoma / pathology. Neurofibromatosis 2 / pathology. Scleral Diseases / pathology

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  • (PMID = 17353411.001).
  • [ISSN] 0003-9950
  • [Journal-full-title] Archives of ophthalmology (Chicago, Ill. : 1960)
  • [ISO-abbreviation] Arch. Ophthalmol.
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article; Research Support, Non-U.S. Gov't
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / Glial Fibrillary Acidic Protein; 0 / Mucin-1; 0 / S100 Proteins; 68238-35-7 / Keratins
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87. 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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88. Laulajainen M, Muranen T, Carpén O, Grönholm M: Protein kinase A-mediated phosphorylation of the NF2 tumor suppressor protein merlin at serine 10 affects the actin cytoskeleton. Oncogene; 2008 May 22;27(23):3233-43
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Protein kinase A-mediated phosphorylation of the NF2 tumor suppressor protein merlin at serine 10 affects the actin cytoskeleton.
  • Mutations in the neurofibromatosis 2 tumor suppressor gene (NF2) encoding merlin (moesin-ezrin-radixin like-protein) induce tumors of the nervous system.

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  • (PMID = 18071304.001).
  • [ISSN] 1476-5594
  • [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 / Bicyclo Compounds, Heterocyclic; 0 / Cytoskeletal Proteins; 0 / Neurofibromin 2; 0 / Polymers; 0 / Thiazolidines; 0 / Tumor Suppressor Proteins; 0 / ezrin; 452VLY9402 / Serine; 76343-94-7 / latrunculin B; EC 2.7.11.11 / Cyclic AMP-Dependent Protein Kinases
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89. Nguyen DQ, Chatterjee S, Bates R: Persistent hyperplastic primary vitreous in association with neurofibromatosis 2. J Pediatr Ophthalmol Strabismus; 2005 Jul-Aug;42(4):247-9
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  • [Title] Persistent hyperplastic primary vitreous in association with neurofibromatosis 2.
  • We describe a father and son with persistent hyperplastic primary vitreous occurring in association with neurofibromatosis 2.
  • This report demonstrates rare vertical transmission compatible with autosomal dominant inheritance and the uncommon association of the autosomal dominant systemic disorder neurofibromatosis 2.
  • [MeSH-major] Eye Abnormalities / genetics. Infectious Disease Transmission, Vertical. Neurofibromatosis 2 / genetics. Vitreous Body / abnormalities. Vitreous Body / pathology

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  • (PMID = 16121558.001).
  • [ISSN] 0191-3913
  • [Journal-full-title] Journal of pediatric ophthalmology and strabismus
  • [ISO-abbreviation] J Pediatr Ophthalmol Strabismus
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] United States
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90. Evans DG, Baser ME, O'Reilly B, Rowe J, Gleeson M, Saeed S, King A, Huson SM, Kerr R, Thomas N, Irving R, MacFarlane R, Ferner R, McLeod R, Moffat D, Ramsden R: Management of the patient and family with neurofibromatosis 2: a consensus conference statement. Br J Neurosurg; 2005 Feb;19(1):5-12
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Management of the patient and family with neurofibromatosis 2: a consensus conference statement.
  • A consensus conference on neurofibromatosis 2 (NF2) was held in 2002 at the request of the United Kingdom (UK) Neurofibromatosis Association, with particular emphasis on vestibular schwannoma (VS) surgery.
  • NF2 patients should be managed at specialty treatment centres, whose staff has extensive experience with the disease.
  • All NF2 patients and their families should have access to genetic testing because presymptomatic diagnosis improves the clinical management of the disease.
  • Some clinical manifestations of NF2, such as ocular abnormalities, can be detected in infancy; therefore, clinical screening for at-risk members of NF2 families can start at birth, with the first magnetic resonance (MRI) scan at 10-12 years of age.
  • Minimal interference, maintenance of quality of life, and conservation of function or auditory rehabilitation are the cornerstones of NF2 management, and the decision points to achieve these goals for patients with different clinical presentations are discussed.
  • [MeSH-major] Neuroma, Acoustic
  • [MeSH-minor] Adult. Diagnosis, Differential. Family Health. Humans. Neurofibromatosis 2 / diagnosis. Neurofibromatosis 2 / genetics. Neurofibromatosis 2 / therapy. Patient Care Team

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  • (PMID = 16147576.001).
  • [ISSN] 0268-8697
  • [Journal-full-title] British journal of neurosurgery
  • [ISO-abbreviation] Br J Neurosurg
  • [Language] eng
  • [Publication-type] Consensus Development Conference; Journal Article; Review
  • [Publication-country] England
  • [Number-of-references] 63
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91. Lepont P, Stickney JT, Foster LA, Meng JJ, Hennigan RF, Ip W: Point mutation in the NF2 gene of HEI-193 human schwannoma cells results in the expression of a merlin isoform with attenuated growth suppressive activity. Mutat Res; 2008 Jan 1;637(1-2):142-51
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Point mutation in the NF2 gene of HEI-193 human schwannoma cells results in the expression of a merlin isoform with attenuated growth suppressive activity.
  • Neurofibromatosis type 2 (NF2) is a genetic disorder characterized by the formation of bilateral schwannomas of the eighth cranial nerve.
  • Although the protein product of the NF2 gene (merlin) is a classical tumor suppressor, the mechanism by which merlin suppresses cell proliferation is not fully understood.
  • The availability of isolated tumor cells would facilitate a better understanding of the molecular function of merlin, but primary schwannoma cells obtained from patients grow slowly and do not yield adequate numbers for biochemical analysis.
  • In this study, we have examined the NF2 mutation in HEI-193 cells, an immortalized cell line derived from the schwannoma of an NF2 patient.
  • Previous work showed that the NF2 mutation in HEI-193 cells causes a splicing defect in the NF2 transcript.
  • Cell proliferation assays showed that, in NF2(-/-) mouse embryonic fibroblasts, exogenously expressed merlin isoform 3 does exhibit growth suppressive activity although it is significantly lower than that of identically expressed merlin isoform 1.

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  • (PMID = 17868749.001).
  • [ISSN] 0027-5107
  • [Journal-full-title] Mutation research
  • [ISO-abbreviation] Mutat. Res.
  • [Language] ENG
  • [Grant] United States / NCI NIH HHS / CA / CA078524-07; United States / NCI NIH HHS / CA / R01 CA078524; United States / NCI NIH HHS / CA / R01 CA 78524; United States / NCI NIH HHS / CA / R01 CA078524-07
  • [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] Netherlands
  • [Chemical-registry-number] 0 / Neurofibromin 2; 0 / Protein Isoforms
  • [Other-IDs] NLM/ NIHMS38631; NLM/ PMC2233940
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92. Lee HH, Lian SL, Huang CJ, Huang MY: Tomotherapy for neurofibromatosis Type 2: case report and review of the literature. Br J Radiol; 2010 Apr;83(988):e74-8
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Tomotherapy for neurofibromatosis Type 2: case report and review of the literature.
  • Neurofibromatosis 2 (NF2) results in multiple central nervous system tumours.
  • In this case report, the patient has one vestibular schwannoma, one trigeminal schwannoma and two meningiomas developed before the age of 30.
  • This is the first reported case of clinical experience with tomotherapy in the management of NF2.
  • [MeSH-major] Brain Neoplasms / radiotherapy. Meningioma / radiotherapy. Neurofibromatosis 2 / radiotherapy. Radiotherapy, Intensity-Modulated / methods
  • [MeSH-minor] Adult. Dose Fractionation. Female. Humans. Magnetic Resonance Imaging. Neurilemmoma / diagnosis. Neurilemmoma / radiotherapy. Neuroma, Acoustic / diagnosis. Neuroma, Acoustic / radiotherapy. Tomography, X-Ray Computed. Treatment Outcome. Trigeminal Nerve Diseases / diagnosis. Trigeminal Nerve Diseases / radiotherapy

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  • (PMID = 20335436.001).
  • [ISSN] 1748-880X
  • [Journal-full-title] The British journal of radiology
  • [ISO-abbreviation] Br J Radiol
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article; Review
  • [Publication-country] England
  • [Number-of-references] 25
  • [Other-IDs] NLM/ PMC3473451
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93. Ruttledge MH, Rouleau GA: Role of the neurofibromatosis type 2 gene in the development of tumors of the nervous system. Neurosurg Focus; 2005 Nov;19(5):E6
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Role of the neurofibromatosis type 2 gene in the development of tumors of the nervous system.
  • Germ line and somatic mutations in the neurofibromatosis Type 2 (NF2) tumor suppressor gene predispose individuals to tumors of the nervous system, including schwannomas and meningiomas.
  • Since identification of the NF2 gene more than a decade ago, a large body of information has been collected on the nature and consequences of these alterations in patients with NF2 and in individuals in whom sporadic tumors associated with NF2 develop.
  • The catalog of mutations identified thus far has facilitated extensive genetic analysis, including studies of patients with mosaicism and phenotype-genotype correlations, and has also led to experiments that have begun to unravel the molecular biology of the NF2 gene and its role in tumorigenesis.
  • The authors describe some of the most significant findings in NF2 genetics and biology over the last decade.
  • [MeSH-major] Genes, Neurofibromatosis 2 / physiology. Nervous System Neoplasms / genetics. Neurofibromatosis 2 / genetics

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  • (PMID = 16398470.001).
  • [ISSN] 1092-0684
  • [Journal-full-title] Neurosurgical focus
  • [ISO-abbreviation] Neurosurg Focus
  • [Language] eng
  • [Publication-type] Journal Article; Review
  • [Publication-country] United States
  • [Number-of-references] 77
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94. Baser ME, Contributors to the International NF2 Mutation Database: The distribution of constitutional and somatic mutations in the neurofibromatosis 2 gene. Hum Mutat; 2006 Apr;27(4):297-306
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] The distribution of constitutional and somatic mutations in the neurofibromatosis 2 gene.
  • Constitutional heterozygous inactivating mutations in the neurofibromatosis 2 (NF2) tumor suppressor gene cause the autosomal dominant disease NF2, and biallelic inactivating somatic NF2 mutations are found in a high proportion of unilateral sporadic vestibular schwannoma (USVS) and sporadic meningioma.
  • We surveyed the distributions of constitutional NF2 mutations in 823 NF2 families, 278 somatic NF2 mutations in USVS, and 208 somatic NF2 mutations in sporadic meningioma.
  • Based on the available NF2 mutation data, the most dominant influence on the spectra of mutations in exons 1-15 are C>T transitions that change arginine codons (CGA) to stop codons (TGA) due to spontaneous deamination of methylcytosine to thymine in CpG dinucleotides.
  • The paucity of reported mutations in exon 9 and the absence of reported mutations in exons 16 and 17 may be related to structure-function relationships in the NF2 protein.
  • [MeSH-major] Codon, Nonsense / genetics. DNA Mutational Analysis. Neurofibromatosis 2 / genetics

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  • [Copyright] (c) 2006 Wiley-Liss, Inc.
  • (PMID = 16521120.001).
  • [ISSN] 1098-1004
  • [Journal-full-title] Human mutation
  • [ISO-abbreviation] Hum. Mutat.
  • [Language] eng
  • [Databank-accession-numbers] OMIM/ 101000
  • [Publication-type] Journal Article; Review
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / Codon, Nonsense
  • [Number-of-references] 71
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95. van Tilborg AA, Morolli B, Giphart-Gassler M, de Vries A, van Geenen DA, Lurkin I, Kros JM, Zwarthoff EC: Lack of genetic and epigenetic changes in meningiomas without NF2 loss. J Pathol; 2006 Mar;208(4):564-73
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Lack of genetic and epigenetic changes in meningiomas without NF2 loss.
  • Approximately 60% of sporadic meningiomas are caused by inactivation of the NF2 tumour suppressor gene.
  • They differ from their NF2-related counterparts in that they are more often of the meningothelial subtype and are located preferentially in the anterior skull base.
  • To gain more insight into the aetiology of these tumours, we studied genetic and epigenetic alterations in 25 meningiomas without NF2 involvement.
  • Again no evidence for LOH of a particular chromosome arm was obtained, and no LOH was found in the genomic regions containing the NF2-related ERM family members ezrin and radixin, DAL-1, protein 4.1R, and TSLC1.
  • Methylation was detected in 5 of 16 genes (NF2, p14(ARF), CDH1, BRCA1, RB1) previously shown to be silenced in a variety of tumour types.
  • However, methylation percentages for these genes were generally higher in a group of NF2-related meningiomas, with the exception of the BRCA1 gene.
  • The NF2 gene was methylated in only 1 of 21 tumours.
  • In conclusion, meningiomas with an intact NF2 gene have a normal karyotype and no obvious genetic or epigenetic aberrations, suggesting that the gene(s) involved in the pathogenesis of these tumours are altered by smaller events than can be detected with the techniques used in our study.


96. Hadfield KD, Newman WG, Bowers NL, Wallace A, Bolger C, Colley A, McCann E, Trump D, Prescott T, Evans DG: Molecular characterisation of SMARCB1 and NF2 in familial and sporadic schwannomatosis. J Med Genet; 2008 Jun;45(6):332-9
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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.
  • BACKGROUND: Schwannomatosis is a rare condition characterised by multiple schwannomas and lack of involvement of the vestibular nerve.
  • A recent report identified bi-allelic mutations in the SMARCB1/INI1 gene in a single family with schwannomatosis.
  • We aimed to establish the contribution of the SMARCB1 and the NF2 genes to sporadic and familial schwannomatosis in our cohort.
  • METHODS: We performed DNA sequence and dosage analysis of SMARCB1 and NF2 in 28 sporadic cases and 15 families with schwannomatosis.
  • In addition, in all affected individuals with SMARCB1 mutations and available tumour tissue, we detected bi-allelic somatic inactivation of the NF2 gene.
  • CONCLUSION: In contrast to the recent report where no NF2 mutations were identified in a schwannomatosis family with SMARCB1 mutations, in our cohort, a four hit model with mutations in both SMARCB1 and NF2 define a subset of patients with schwannomatosis.

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  • [ErratumIn] J Med Genet. 2008 Sep;45(9):608
  • (PMID = 18285426.001).
  • [ISSN] 1468-6244
  • [Journal-full-title] Journal of medical genetics
  • [ISO-abbreviation] J. Med. Genet.
  • [Language] ENG
  • [Grant] United Kingdom / Cancer Research UK / / A6964; United Kingdom / Cancer Research UK / / C1389/A6964
  • [Publication-type] Journal Article; Research Support, Non-U.S. Gov't
  • [Publication-country] England
  • [Chemical-registry-number] 0 / Chromosomal Proteins, Non-Histone; 0 / DNA-Binding Proteins; 0 / Neurofibromin 2; 0 / SMARCB1 protein, human; 0 / Transcription Factors
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97. Willekens BM, Rooker S, Dua G, Appel B, Martin JJ, Crols R, De Deyn PP: Central nervous system metastases of pulmonary adenocarcinoma mimicking neurofibromatosis type 2. Acta Neurol Belg; 2006 Jun;106(2):87-9
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Central nervous system metastases of pulmonary adenocarcinoma mimicking neurofibromatosis type 2.
  • Neuroimaging revealed bilateral VIIIth cranial nerve masses and multiple cerebral and spinal cord lesions that were interpreted as being acoustic schwannomas and multiple meningeomas.
  • An initial tentative diagnosis of neurofibromatosis type 2 (NF2) was made.
  • Both clinical and radiological evolution were atypical for NF2 and the initial diagnosis of NF2 was questioned.
  • Postmortem examination confirmed that this patient had multiple central nervous system metastases of a primary pulmonary adenocarcinoma, presenting clinically and neuroradiologically as a probable neurofibromatosis type 2.
  • Clinicians should be aware of the rare possibility of central nervous system metastases mimicking NF2.
  • [MeSH-major] Adenocarcinoma / diagnosis. Central Nervous System Neoplasms / diagnosis. Central Nervous System Neoplasms / secondary. Lung Neoplasms / diagnosis. Neurofibromatosis 2 / diagnosis
  • [MeSH-minor] Diagnosis, Differential. Humans. Male. Middle Aged

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  • (PMID = 16898259.001).
  • [ISSN] 0300-9009
  • [Journal-full-title] Acta neurologica Belgica
  • [ISO-abbreviation] Acta Neurol Belg
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] Belgium
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98. Yohay KH: The genetic and molecular pathogenesis of NF1 and NF2. Semin Pediatr Neurol; 2006 Mar;13(1):21-6
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] The genetic and molecular pathogenesis of NF1 and NF2.
  • Neurofibromatosis types 1 and 2 (NF1 and NF2) are autosomal dominant phakomatoses.
  • The NF1 and NF2 genes encode for neurofibromin and merlin, respectively.
  • Improved understanding of the mechanisms by which these tumor suppressors act may allow for medical therapies for neurofibromatosis and may offer insights for cancer therapeutics.
  • [MeSH-major] Neurofibromatosis 1 / genetics. Neurofibromatosis 2 / genetics. Neurofibromin 1 / genetics. Neurofibromin 2 / genetics

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  • (PMID = 16818172.001).
  • [ISSN] 1071-9091
  • [Journal-full-title] Seminars in pediatric neurology
  • [ISO-abbreviation] Semin Pediatr Neurol
  • [Language] eng
  • [Publication-type] Journal Article; Review
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / Neurofibromin 1; 0 / Neurofibromin 2
  • [Number-of-references] 102
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99. Evans DG, Ramsden RT, Shenton A, Gokhale C, Bowers NL, Huson SM, Pichert G, Wallace A: Mosaicism in neurofibromatosis type 2: an update of risk based on uni/bilaterality of vestibular schwannoma at presentation and sensitive mutation analysis including multiple ligation-dependent probe amplification. J Med Genet; 2007 Jul;44(7):424-8
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Mosaicism in neurofibromatosis type 2: an update of risk based on uni/bilaterality of vestibular schwannoma at presentation and sensitive mutation analysis including multiple ligation-dependent probe amplification.
  • BACKGROUND: Neurofibromatosis type 2 (NF2) is almost unique among inherited disorders in the frequency of mosaicism in the first affected generation.
  • METHODS: The expanded database of 460 families with NF2 and 704 affected individuals was analysed for mosaicism and transmission risks to offspring.
  • RESULTS: 64 mosaic patients, with a projected mosaicism rate of 33% for sporadic classical NF2 with bilateral vestibular schwannoma at presentation and 60% for those presenting unilaterally, were identified.
  • CONCLUSION: The chances of mosaicism in NF2 and the resultant risks of transmission of the mutation to offspring in a number of different clinical situations have been further delineated.
  • The use of MLPA in this large NF2 series is also reported for the first time.
  • [MeSH-major] Genetic Predisposition to Disease. Mosaicism. Neurofibromatosis 2 / complications. Neurofibromatosis 2 / genetics. Neuroma, Acoustic / etiology


100. Ko JY, Kim JE, Kim YH, Ro YS: Cutaneous plexiform schwannomas in a patient with neurofibromatosis type 2. Ann Dermatol; 2009 Nov;21(4):402-5

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Cutaneous plexiform schwannomas in a patient with neurofibromatosis type 2.
  • Plexiform schwannoma is a rare benign neoplasm of the neural sheath characterized by a multinodular plexiform growth pattern.
  • The tumor usually occurs as an isolated finding, although rare cases have been reported in association with neurofibromatosis type 2 (NF2).
  • His medical history included local excision of a plexiform schwannoma on his left leg in our dermatology clinic 6 years prior.
  • A histopathological examination of the skin-colored nodule also showed the typical microscopic features of a plexiform schwannoma, including the characteristic Antoni type A areas showing frequent nuclear palisading and Verocay bodies.
  • Magnetic resonance imaging revealed a meningioma and a vestibular schwannoma in the cranium and multiple neurofibromas on the spinal cord.
  • Herein we report a rare case of cutaneous plexiform schwannomas in a patient with NF2.

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  • (PMID = 20523833.001).
  • [ISSN] 2005-3894
  • [Journal-full-title] Annals of dermatology
  • [ISO-abbreviation] Ann Dermatol
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] Korea (South)
  • [Other-IDs] NLM/ PMC2861261
  • [Keywords] NOTNLM ; Neurofibromatosis type 2 / Plexiform / Schwannoma
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