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[Title] Multiple meningiomas: differential involvement of the NF2 gene in children and adults.

OBJECTIVE: To screen for NF2 mutations in people with meningiomas.

METHODS: Lymphocyte or tumour DNA was analysed from 46 individuals from 36 families who presented with a meningioma at age < or =15 years without vestibular schwannoma (VS), or who had multiple meningiomas in adulthood before the diagnosis of vs.

RESULTS: Eight of 13 people with meningioma and other features of neurofibromatosis 2 (NF2) had an identified constitutional NF2 mutation in blood DNA, but none of the other subjects had identified constitutional NF2 mutations.

CONCLUSIONS: Constitutional NF2 mutations are the most likely cause of meningioma in children and in people with a meningioma plus other non-VS features of NF2.

Mosaic NF2 may be the cause of about 8% of multiple meningiomas in sporadic adult cases, but there are other causes in the majority of other such patients and in multiple meningioma in families.

[MeSH-major] Genes, Neurofibromatosis 2. Meningioma / genetics. Mutation. Neuroma, Acoustic / genetics. Point Mutation

[MeSH-minor] Adolescent. Adult. Child. Humans. Loss of Heterozygosity. Mosaicism. Neurofibromatosis 2 / genetics. Polymerase Chain Reaction

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(PMID = 15635074.001).

[ISSN] 1468-6244

[Journal-full-title] Journal of medical genetics

[ISO-abbreviation] J. Med. Genet.

[Language] eng

[Publication-type] Journal Article

[Publication-country] England

[Other-IDs] NLM/ PMC1735900

   

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Although methionine stress-induced toxicity is not solely dependent on p53, the gain in p21 and loss in CDK1 transcription are more enhanced in wild-type p53 tumors.

Cell cycle and mitotic arrest is in agreement with up-regulation of NF2, ETS2, CLU, GADD45alpha, GADD45beta, and GADD45gamma and down-regulation of AURKB, TOP2A, CCNA, CCNB, PRC1, BUB1, NuSAP, IFI16, and BRCA1.

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(PMID = 16170025.001).

[ISSN] 1535-7163

[Journal-full-title] Molecular cancer therapeutics

[ISO-abbreviation] Mol. Cancer Ther.

[Language] eng

[Publication-type] Comparative Study; Journal Article

[Publication-country] United States

[Chemical-registry-number] 0 / Antimetabolites, Antineoplastic; 0 / Antineoplastic Agents, Alkylating; 0 / CDKN1A protein, human; 0 / Cell Cycle Proteins; 0 / Cyclin-Dependent Kinase Inhibitor p21; 0 / Neoplasm Proteins; 0 / Retinoblastoma Protein; 0 / Transforming Growth Factor beta; 7GR28W0FJI / Dacarbazine; 85622-93-1 / temozolomide; AE28F7PNPL / Methionine; EC 2.1.1.63 / O(6)-Methylguanine-DNA Methyltransferase; U3P01618RT / Fluorouracil

   

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[Title] Long-term outcome of stereotactic radiosurgery (SRS) in patients with acoustic neuromas.

PURPOSE: To evaluate the effectiveness and long-term outcome of stereotactic radiosurgery (SRS) for acoustic neuromas (AN).

Two patients suffered from neurofibromatosis type 2.

[MeSH-major] Hearing / radiation effects. Neuroma, Acoustic / surgery. Radiosurgery

[MeSH-minor] Adult. Aged. Aged, 80 and over. Facial Nerve / radiation effects. Facial Paralysis / etiology. Female. Hearing Loss / etiology. Humans. Male. Middle Aged. Neurofibromatosis 2 / complications. Radiation Injuries / etiology. Trigeminal Neuralgia / etiology

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(PMID = 16464537.001).

[ISSN] 0360-3016

[Journal-full-title] International journal of radiation oncology, biology, physics

[ISO-abbreviation] Int. J. Radiat. Oncol. Biol. Phys.

[Language] eng

[Publication-type] Evaluation Studies; Journal Article

[Publication-country] United States

   

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[Title] Genesis and biology of vestibular schwannomas.

This review chapter is a synthesis of the recent literature about pathogenesis of schwannomas with emphasis on vestibular schwannomas (VSs).

The understanding of this mechanism has been gained from molecular genetic studies of neurofibromatosis type 2 (NF2) patients, in whom mutations of a tumor suppressor gene (NF2 gene) was clearly identified.

S/M is the normal NF2 gene product.

Lack of normal S/M protein in the schwannoma cell is due to gene mutation in 50% of sporadic VSs.

Apart from the involvement of the S/M pathway, the authors review the potential role of other genetic abnormalities and growing factors that are supposed to be involved in the pathogenesis of vs. Understanding the pathways of action and regulation of S/M may provide the basics for identifying potential therapeutic targets, which is of paramount importance for a better management of NF2 patients.

[MeSH-major] Genes, Neurofibromatosis 2 / physiology. Neurofibromin 2 / physiology. Neuroma, Acoustic / genetics. Neuroma, Acoustic / pathology

[MeSH-minor] Epigenesis, Genetic / physiology. Humans. Neurofibromatosis 2 / complications. Neurofibromatosis 2 / genetics

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(PMID = 18810196.001).

[ISSN] 0079-6492

[Journal-full-title] Progress in neurological surgery

[ISO-abbreviation] Prog Neurol Surg

[Language] eng

[Publication-type] Journal Article; Review

[Publication-country] Switzerland

[Chemical-registry-number] 0 / Neurofibromin 2

[Number-of-references] 43

   

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OBJECTIVE: Innovations in diagnosis, surgical techniques, and perioperative care have dramatically improved outcomes in lateral skull base procedures in recent years.

PATIENTS: Eighty-nine pediatric patients undergoing 115 neurotologic procedures for lateral skull base tumors from July 1992 to September 2003.

MAIN OUTCOME MEASURES: Initial clinical presentation, tumor type, pre- and postoperative hearing and facial nerve status, treatment course, complications, and functional outcomes.

RESULTS: The majority of tumors in this series were vestibular schwannomas, and 65 patients were diagnosed with neurofibromatosis Type 2.

Complete tumor removal was accomplished in the majority of cases (97%), with good preservation of facial nerve function (House-Brackmann Grade I or II) in 80% of patients.

CONCLUSION: With advances in diagnostic procedures and use of current neurotologic techniques, pediatric patients may undergo successful treatment of lateral skull base tumors, with good functional outcomes and minimal morbidity.

[MeSH-major] Neurofibromatosis 2 / surgery. Neuroma, Acoustic / surgery. Postoperative Complications / etiology. Skull Base / surgery. Skull Base Neoplasms / surgery

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(PMID = 15793410.001).

[ISSN] 1531-7129

[Journal-full-title] Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology

[ISO-abbreviation] Otol. Neurotol.

[Language] eng

[Publication-type] Journal Article

[Publication-country] United States

   

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[Title] Stereotactic radiosurgery for vestibular schwannomas: analysis of 317 patients followed more than 5 years.

OBJECTIVE: Many investigators have reported successful treatment of vestibular schwannomas with gamma knife radiosurgery (GKRS).

However, long-term outcomes should be evaluated before concluding that GKRS is truly safe and effective for the treatment of vestibular schwannomas.

METHODS: Between May 1991 and December 1998, 346 consecutive patients (excluding those presenting with neurofibromatosis Type 2) were treated with GKRS.

[MeSH-major] Cranial Nerve Neoplasms / surgery. Neuroma, Acoustic / surgery. Radiosurgery / methods. Treatment Outcome

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(PMID = 16094154.001).

[ISSN] 1524-4040

[Journal-full-title] Neurosurgery

[ISO-abbreviation] Neurosurgery

[Language] eng

[Publication-type] Clinical Trial; Comparative Study; Journal Article

[Publication-country] United States

   

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[Title] Tumor control and hearing preservation after Gamma Knife radiosurgery for vestibular schwannomas in neurofibromatosis type 2.

To analyze the effect of Gamma Knife radiosurgery (GKS) on tumor control and hearing preservation rates in patients with vestibular schwannomas (VS) in a setting of neurofibromatosis type 2 (NF 2), a retrospective study was carried out at a tertiary-level referral Gamma Knife unit.

Dose plans, pre- and postoperative radiology, and follow-up clinical records of patients with NF 2 who had undergone GKS for VS using a Leksell Gamma Knife (Elekta Instruments AB, Stockholm, Sweden) model B unit from 1997 to 2008 were reviewed.

Twenty-four patients had bilateral vs. The commonest clinical presentation was hearing loss and tinnitus.

GKS for VS provides satisfactory tumor control and hearing preservation in patients with NF 2.

[MeSH-major] Hearing / physiology. Neurofibromatosis 2 / surgery. Radiosurgery / methods

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[Journal-full-title] Journal of neuro-oncology

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[Publication-type] Journal Article

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Here we show that the ERM-related protein merlin (NF2) does not bind NEP or its cytosolic region.

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(PMID = 19388049.001).

[ISSN] 1469-896X

[Journal-full-title] Protein science : a publication of the Protein Society

[ISO-abbreviation] Protein Sci.

[Language] ENG

[Grant] United States / NCI NIH HHS / CA / CA80240; United States / NCI NIH HHS / PC / PC040758

[Publication-type] Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, Non-P.H.S.

[Publication-country] United States

[Chemical-registry-number] 0 / Microfilament Proteins; 0 / Neurofibromin 2; 0 / Peptides; 144131-77-1 / moesin; EC 3.4.24.11 / Neprilysin

[Other-IDs] NLM/ PMC2771306

   

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Interestingly, however, genomic imbalances orthologous to some of the hallmark aberrations of human intracranial tumors, including chromosome 22/NF2 deletions in meningiomas and chromosome 1p/19q deletions in oligodendrogliomas, were not major events in the dog.

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(PMID = 19333554.001).

[ISSN] 1573-7373

[Journal-full-title] Journal of neuro-oncology

[ISO-abbreviation] J. Neurooncol.

[Language] ENG

[Grant] United States / NINDS NIH HHS / NS / NS051190-01; United States / NINDS NIH HHS / NS / R21 NS051190; United States / NINDS NIH HHS / NS / R21 NS051190-01; United States / NINDS NIH HHS / NS / NS051190; United Kingdom / Wellcome Trust / /

[Publication-type] Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

[Publication-country] United States

[Other-IDs] NLM/ NIHMS183408; NLM/ PMC3225023

   

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[Title] The Nf2 tumor suppressor regulates cell-cell adhesion during tissue fusion.

We found that in the mouse embryo, expression of the Nf2 tumor suppressor, merlin, is dynamically regulated during tissue fusion: Nf2 expression is low at the leading front before fusion and high across the fused tissue bridge.

Mosaic Nf2 mutants exhibit a global defect in tissue fusion characterized by ectopic detachment and increased detachment-induced apoptosis (anoikis).

Our work reveals that regulation of Nf2 expression is a previously unrecognized means of controlling adhesion at the leading front, thereby ensuring successful tissue fusion.

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(PMID = 17360635.001).

[ISSN] 0027-8424

[Journal-full-title] Proceedings of the National Academy of Sciences of the United States of America

[ISO-abbreviation] Proc. Natl. Acad. Sci. U.S.A.

[Language] eng

[Publication-type] Comparative Study; Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, Non-P.H.S.

[Publication-country] United States

[Chemical-registry-number] 0 / DNA Primers; 0 / Neurofibromin 2

[Other-IDs] NLM/ PMC1801999

   

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We performed direct sodium bisulfite sequencing in a series of 50 meningiomas, including 27 benign meningiomas [World Health Organization (WHO) grade I], 11 atypical meningiomas (WHO grade II) and 12 anaplastic meningiomas (WHO grade III), and found hypermethylation of TIMP3 in 67% of anaplastic meningiomas, but only 22% of atypical and 17% of benign meningiomas.

TIMP3 is located in the chromosomal band 22q12, the allelic loss of which occurs early in meningioma tumorigenesis and preferentially targets the NF2 tumor suppressor gene.

Thus, TIMP3 inactivation by methylation seems fairly exclusive to meningiomas with allelic losses on 22q12 but--in contrast to NF2 mutation--appears to be involved in meningioma progression as it is associated with a more aggressive, high-grade meningioma phenotype.

[MeSH-minor] Aged. Aged, 80 and over. Cell Line, Tumor. Disease Progression. Down-Regulation / genetics. Humans. Male. Middle Aged

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(PMID = 19922547.001).

[ISSN] 1750-3639

[Journal-full-title] Brain pathology (Zurich, Switzerland)

[ISO-abbreviation] Brain Pathol.

[Language] eng

[Publication-type] Journal Article; Research Support, Non-U.S. Gov't

[Publication-country] Switzerland

[Chemical-registry-number] 0 / TIMP3 protein, human; 0 / Tissue Inhibitor of Metalloproteinase-3

   

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[Title] Genomic profiling distinguishes familial multiple and sporadic multiple meningiomas.

BACKGROUND: Meningiomas may occur either as familial tumors in two distinct disorders, familial multiple meningioma and neurofibromatosis 2 (NF2), or sporadically, as either single or multiple tumors in individuals with no family history.

Meningiomas in NF2 and approximately 60% of sporadic meningiomas involve inactivation of the NF2 locus, encoding the tumor suppressor merlin on chromosome 22q.

This study was undertaken to establish whether genomic profiling could distinguish familial multiple meningiomas from sporadic solitary and sporadic multiple meningiomas.

METHODS: We compared 73 meningiomas presenting as sporadic solitary (64), sporadic multiple (5) and familial multiple (4) tumors using genomic profiling by array comparative genomic hybridization (array CGH).

RESULTS: Sporadic solitary meningiomas revealed genomic rearrangements consistent with at least two mechanisms of tumor initiation, as unsupervised cluster analysis readily distinguished tumors with chromosome 22 deletion (associated with loss of the NF2 tumor suppressor) from those without chromosome 22 deletion.

Whereas sporadic meningiomas without chromosome 22 loss exhibited fewer chromosomal imbalance events overall, tumors with chromosome 22 deletion further clustered into two major groups that largely, though not perfectly, matched with their benign (WHO Grade I) or advanced (WHO Grades II and III) histological grade, with the latter exhibiting a significantly greater degree of genomic imbalance (P < 0.001).

By contrast, familial multiple meningiomas displayed no imbalances, supporting a distinct mechanism for the origin for these tumors.

Most importantly, the striking difference observed between sporadic and familial multiple meningiomas indicates that genomic profiling can provide valuable information for differential diagnosis of subjects with multiple meningiomas and for considering the risk for tumor occurrence in their family members.

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(PMID = 19589153.001).

[ISSN] 1755-8794

[Journal-full-title] BMC medical genomics

[ISO-abbreviation] BMC Med Genomics

[Language] ENG

[Grant] United States / NINDS NIH HHS / NS / P01 NS024279

[Publication-type] Journal Article

[Publication-country] England

[Other-IDs] NLM/ PMC2716362

   

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This concept has recently been disputed in cases associated with neurofibromatosis type 2.

The amount (rare, focal, multifocal, and diffuse) and distribution (central and/or peripheral) of axons within the tumors were analyzed.

NFP-positive axons were identified in 11 of 20 (55%) conventional schwannomas (2 rare, 4 focal, 3 multifocal, and 2 diffuse; 5 central, 4 peripheral, and 2 central and peripheral) and in 15 of 20 (75%) cellular schwannomas (3 rare, 6 focal, and 6 multifocal; 12 central, 1 peripheral, and 2 central and peripheral).

Of the 20 ancient schwannomas, 7 cases (35%) showed intratumoral axons, highlighted by NFP immunostaining (1 rare, 4 focal, 1 multifocal, and 1 diffuse; 4 peripheral, 2 central, and 1 central and peripheral).

Most cases of gastric schwannoma showed no evidence of intratumoral axons; 9 cases (90%) were negative for NFP and only 1 case (10%) was positive (focal and central).

Seven of 10 cases (70%) of plexiform schwannomas were negative for NFP, whereas only 3 cases (30%) showed positive axons (2 multifocal and 1 focal; 3 central).

Although NFP-positive axons were most often present in the conventional and cellular variants of schwannoma, their presence was also observed in a minority of ancient, gastric and plexiform schwannomas.

Differentiation between neurofibroma and schwannoma in cases with overlapping cytoarchitectural features should not be based solely on the presence or absence of NFP-positive axons within a given tumor.

[MeSH-major] Axons / chemistry. Neurilemmoma / diagnosis. Neurofibroma / diagnosis. Neurofilament Proteins / analysis. S100 Proteins / analysis. Schwann Cells / chemistry. Stomach Neoplasms / diagnosis

[MeSH-minor] Cell Differentiation. Cell Proliferation. Diagnosis, Differential. Humans. Immunohistochemistry. Neoplasm Invasiveness. Predictive Value of Tests. Reproducibility of Results

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(PMID = 17721192.001).

[ISSN] 0147-5185

[Journal-full-title] The American journal of surgical pathology

[ISO-abbreviation] Am. J. Surg. Pathol.

[Language] eng

[Publication-type] Journal Article

[Publication-country] United States

[Chemical-registry-number] 0 / Neurofilament Proteins; 0 / S100 Proteins

   

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The auditory midbrain implant (AMI) is a new central auditory prosthesis designed for penetrating stimulation of the human inferior colliculus.

The major group of candidates for the AMI consists of neurofibromatosis type 2 (NF2) patients who develop neural deafness because of growth and/or surgical removal of bilateral acoustic neuromas.

However, speech perception performance in NF2 ABI patients has been limited.

The fact that the ABI is able to produce high levels of speech perception in nontumor patients (with inaccessible cochleae or posttraumatic damage to the cochlear nerve) suggests that limitations in ABI performance in NF2 patients may be associated with cochlear nucleus damage caused by the tumors or the tumor removal process.

Thus, stimulation of the auditory midbrain proximal to the damaged cochlear nucleus may be a better alternative for hearing restoration in NF2 patients.

We propose the central nucleus of the inferior colliculus (ICC) as the potential site.

The goal of this article is to present the ICC as an alternative site for an auditory implant for NF2 patients and to describe the design of the first human prototype AMI.

[MeSH-minor] Algorithms. Auditory Brain Stem Implants. Humans. Neurofibromatosis 2 / complications. Neuroma, Acoustic / complications. Neuroma, Acoustic / etiology. Neuroma, Acoustic / surgery. Treatment Outcome

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(PMID = 16936570.001).

[ISSN] 1531-7129

[Journal-full-title] Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology

[ISO-abbreviation] Otol. Neurotol.

[Language] eng

[Publication-type] Journal Article; Research Support, Non-U.S. Gov't; Review

[Publication-country] United States

[Number-of-references] 51

   

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[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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[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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[Title] NF2 gene expression in sporadic meningiomas: relation to grades or histotypes real time-pCR study.

One of the most common regions involved in the meningiomas tumorigenesis is chromosome 22q where the NF2 gene resides.

The deficiency or loss of the NF2 gene product, merlin/schwannomin, plays a role in tumor development and metastatization.

Several studies have indicated NF2 gene inactivation as an early tumorigenic event unrelated to the histological grade or clinical behavior.

On the contrary, the NF2 gene alteration rate differs between the different histotypes.

A pathogenesis independent from the NF2 gene has been suggested in meningothelial meningiomas.

In the present work, we studied the NF2 gene expression through real time-PCR (RT-PCR) in 30 meningiomas.

The average of the NF2 gene expression of all meningiomas was considered as reference value.

The average of expression of WHO grade I and II meningiomas was higher than the average of all meningiomas, whereas that of WHO grade III meningiomas was lower.

When we compared the NF2 gene expression in the different meningioma grades we did not note a significant difference (P = 0.698) despite the tendency to decrease from grade I to grade III.

The difference in NF2 gene expression between meningothelial and non-meningothelial meningiomas was statistically significant (P = 0.013).

Our data supports the finding that alterations in NF2 gene alteration are histotype related but not grade related.

[MeSH-major] Genes, Neurofibromatosis 2. Meningeal Neoplasms / genetics. Meningeal Neoplasms / pathology. Meningioma / genetics

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(PMID = 17319281.001).

[ISSN] 0919-6544

[Journal-full-title] Neuropathology : official journal of the Japanese Society of Neuropathology

[ISO-abbreviation] Neuropathology

[Language] eng

[Publication-type] Journal Article

[Publication-country] Australia

   

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[Title] Genetic and epigenetic alteration of the NF2 gene in sporadic meningiomas.

The role of the NF2 gene in the development of meningiomas has recently been documented; inactivating mutations plus allelic loss at 22q, the site of this gene (at 22q12), have been identified in both sporadic and neurofibromatosis type 2-associated tumors.

Although epigenetic inactivation through aberrant CpG island methylation of the NF2 5' flanking region has been documented in schwannoma (another NF2-associated neoplasm), data on participation of this epigenetic modification in meningiomas are not yet widely available.

Using methylation-specific PCR (MSP) plus sequencing, we assessed the presence of aberrant promoter NF2 methylation in a series of 88 meningiomas (61 grade I, 24 grade II, and 3 grade III), in which the allelic constitution at 22q and the NF2 mutational status also were determined by RFLP/microsatellite and PCR-SSCP analyses.

Chromosome 22 allelic loss, NF2 gene mutation, and aberrant NF2 promoter methylation were detected in 49%, 24%, and 26% of cases, respectively.

Aberrant NF2 methylation with loss of heterozygosity (LOH) at 22q was found in five cases, and aberrant methylation with NF2 mutation in another; LOH 22q and the mutation were found in 16 samples.

The aberrant methylation of the NF2 gene also was the sole alteration in 15 samples, most of which were from grade I tumors.

These results indicate that aberrant NF2 hypermethylation may participate in the development of a significant proportion of sporadic meningiomas, primarily those of grade I.

[MeSH-major] Chromosome Aberrations. Chromosomes, Human, Pair 22. Genes, Neurofibromatosis 2 / physiology. Meningeal Neoplasms / genetics. Meningioma / genetics

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(PMID = 15609345.001).

[ISSN] 1045-2257

[Journal-full-title] Genes, chromosomes & cancer

[ISO-abbreviation] Genes Chromosomes Cancer

[Language] eng

[Publication-type] Journal Article; Research Support, Non-U.S. Gov't

[Publication-country] United States

   

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Furthermore, NF2 mutations were found in non-VHL mutated ccRCC, and several other probable cancer genes were identified.

These results indicate that substantial genetic heterogeneity exists in a cancer type dominated by mutations in a single gene, and that systematic screens will be key to fully determining the somatic genetic architecture of cancer.

[MeSH-major] Carcinoma, Renal Cell / genetics. Genes, Neurofibromatosis 2. Histone-Lysine N-Methyltransferase / genetics. Histones / metabolism. Kidney Neoplasms / genetics. Nuclear Proteins / genetics. Oxidoreductases, N-Demethylating / genetics

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[Cites] Cancer Cell. 2007 Apr;11(4):335-47 [17418410.001]

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[CommentIn] Future Oncol. 2010 Jun;6(6):897-900 [20528227.001]

(PMID = 20054297.001).

[ISSN] 1476-4687

[Journal-full-title] Nature

[ISO-abbreviation] Nature

[Language] eng

[Databank-accession-numbers] GEO/ GSE17895

[Grant] United Kingdom / Wellcome Trust / / 077012/Z/05/Z; United Kingdom / Wellcome Trust / / 082359; United Kingdom / Wellcome Trust / / 088340; United Kingdom / Wellcome Trust / / 093867; United Kingdom / Wellcome Trust / / 077012

[Publication-type] Journal Article; Research Support, Non-U.S. Gov't

[Publication-country] England

[Chemical-registry-number] 0 / Chromatin; 0 / Histones; 0 / Nuclear Proteins; EC 1.14.11.- / Histone Demethylases; EC 1.14.11.- / KDM5C protein, human; EC 1.14.11.- / UTX protein, human; EC 1.5.- / Oxidoreductases, N-Demethylating; EC 2.1.1.43 / Histone-Lysine N-Methyltransferase; EC 2.1.1.43 / Set2 protein, human

[Other-IDs] NLM/ PMC2820242; NLM/ UKMS28099

   

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Neurofibromatosis type 2 is an inherited autosomal disorder caused by biallelic inactivation of the NF2 tumor suppressor gene.

The NF2 gene encodes a 70-kDa protein, merlin, which is a member of the ezrin-radixin-moesin (ERM) family.

Using these tools, we find that merlin exists predominately as a monomer in a stable, closed conformation that is mediated by the central alpha-helical domain.

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(PMID = 19884346.001).

[ISSN] 1098-5549

[Journal-full-title] Molecular and cellular biology

[ISO-abbreviation] Mol. Cell. Biol.

[Language] ENG

[Grant] United States / NCI NIH HHS / CA / R01 CA078524; United States / NCI NIH HHS / CA / R01-CA78524

[Publication-type] Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, Non-P.H.S.

[Publication-country] United States

[Chemical-registry-number] 0 / Neurofibromin 2; 0 / Phosphoproteins; 0 / Sodium-Hydrogen Antiporter; 0 / sodium-hydrogen exchanger regulatory factor

[Other-IDs] NLM/ PMC2798298

   

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[Title] A parturient with neurofibromatosis type 2: anesthetic and obstetric considerations for delivery.

Neurofibromatosis type 2 is an extremely rare form of neurofibromatosis characterized by central nervous system involvement with bilateral vestibular schwannomas and spinal tumors.

Anesthetic management of a parturient with neurofibromatosis type 2 has not been fully reported, and the condition is challenging to obstetric anesthesiologists due to the presence of intracranial and intraspinal canal neurofibromas.

We present a case of neurofibromatosis type 2 referred for delivery.

Because of central neuraxial involvement, regional anesthesia was avoided, and the patient delivered by cesarean section under general anesthesia.

The importance of pre-operative diagnosis and multidisciplinary management for neurofibromatosis type 2 is emphasized and anesthetic and obstetric considerations for delivery are presented.

[MeSH-major] Anesthesia, General. Anesthesia, Obstetrical. Central Nervous System Neoplasms. Cesarean Section. Neurofibromatosis 2. Pregnancy Complications, Neoplastic

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[CommentIn] Int J Obstet Anesth. 2005 Oct;14(4):277-8 [16154340.001]

(PMID = 16140520.001).

[ISSN] 0959-289X

[Journal-full-title] International journal of obstetric anesthesia

[ISO-abbreviation] Int J Obstet Anesth

[Language] eng

[Publication-type] Case Reports; Journal Article

[Publication-country] Netherlands

   

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Phaeochromocytomas and paragangliomas may be sporadic or the result of several genetic diseases: multiple endocrine neoplasia type 2, neurofibromatosis 1, von Hippel-Lindau disease, succinate dehydrogenase-phaeochromocytoma-paraganglioma syndrome.

Familial cases are diagnosed earlier and are more frequently bilateral and recurrent than sporadic cases.

Patients should be followed up indefinitely, particularly if they have familial or extra-adrenal tumours.

[MeSH-major] Paraganglioma / complications. Paraganglioma / diagnosis. Pheochromocytoma / complications. Pheochromocytoma / diagnosis

[MeSH-minor] Adrenal Gland Neoplasms / complications. Adrenal Gland Neoplasms / diagnosis. Adrenal Gland Neoplasms / radiography. Adrenal Gland Neoplasms / radionuclide imaging. Aftercare. Algorithms. Diagnostic Imaging. Follow-Up Studies. Humans. Perioperative Care. Prognosis

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(PMID = 16980203.001).

[ISSN] 1521-690X

[Journal-full-title] Best practice & research. Clinical endocrinology & metabolism

[ISO-abbreviation] Best Pract. Res. Clin. Endocrinol. Metab.

[Language] eng

[Publication-type] Journal Article; Review

[Publication-country] England

[Number-of-references] 70

   

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[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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[Title] Stereotactic radiosurgery for vestibular schwannomas in patients with neurofibromatosis type 2: an analysis of tumor control, complications, and hearing preservation rates.

OBJECTIVE: Vestibular schwannomas present significant management challenges in patients with neurofibromatosis Type 2 (NF2).

Facial neuropathy occurred in 8% of tumors, trigeminal neuropathy occurred in 4%, and vestibular dysfunction occurred in 4%.

CONCLUSION: Stereotactic radiosurgery is a safe and effective management modality for neurofibromatosis Type 2 vestibular schwannomas.

[MeSH-major] Hearing Loss, Sensorineural / epidemiology. Hearing Loss, Sensorineural / prevention & control. Neurilemmoma / epidemiology. Neurilemmoma / surgery. Neurofibromatosis 2 / epidemiology. Neurofibromatosis 2 / surgery. Radiosurgery / statistics & numerical data

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(PMID = 17327790.001).

[ISSN] 1524-4040

[Journal-full-title] Neurosurgery

[ISO-abbreviation] Neurosurgery

[Language] eng

[Publication-type] Clinical Trial; Journal Article

[Publication-country] United States

   

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[Title] Tumours of familial origin in the head and neck.

Tumours of familial origin are a rare event in the head and neck but despite this, they deserve a growing interest.

Familial paragangliomas are most of the time limited to the paraganglionar system, but also may be part of different syndromic associations.

Multiple endocrine neoplasias type 1 are characterized by the simultaneous occurrence of at least two of the three main related endocrine tumours: parathyroid, enteropancreatic and anterior pituitary.

Multiple endocrine neoplasia type 2 is due to a germline mutation in the RET proto-oncogene.

The most central clinical difference with MEN-1 is that the associated cancer can be prevented or cured by early thyroidectomy in mutation carriers.

Individuals with neurofibomatosis type 1 present early in life with pigmentary abnormalities, skinfold freckling and iris hamartomas, as result of NF1 gene mutation.

Neurofibromatosis 2 is caused by inactivating mutations of the NF2 gene, and is characterized by the development of nervous system tumours (mainly bilateral vestibular schwannomas), ocular abnormalities, and skin tumours.

Finally, the high rate of p16 mutations in squamous cell carcinomas and the association of p16 with familial melanoma propose p16 as an ideal candidate gene predisposing to familial squamous cell carcinomas.

The elucidation of the cellular processes affected by dysfunction in familial tumours of the head and neck may serve to identify potential targets for future therapeutic interventions.

[MeSH-minor] Carcinoma, Squamous Cell / genetics. Humans. Multiple Endocrine Neoplasia / genetics. Nasopharyngeal Neoplasms / genetics. Neurofibromatoses / genetics. Paraganglioma / genetics

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(PMID = 16857415.001).

[ISSN] 1368-8375

[Journal-full-title] Oral oncology

[ISO-abbreviation] Oral Oncol.

[Language] eng

[Publication-type] Journal Article; Review

[Publication-country] England

[Number-of-references] 121

   

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[Title] Eyelid schwannoma in a male adult.

Solitary lesions can occur sporadically in the general population but multiple neurofibromas are distinctive feature of neurofibromatosis type 1 and bilateral acoustic schwannomas are a feature of neurofibromatosis type 2.

Herein, a case of eyelid schwannoma in a 53-year-old man is described.

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(PMID = 16033357.001).

[ISSN] 1442-6404

[Journal-full-title] Clinical & experimental ophthalmology

[ISO-abbreviation] Clin. Experiment. Ophthalmol.

[Language] eng

[Publication-type] Case Reports; Journal Article

[Publication-country] Australia

   

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[Title] Pulmonary meningioma and neurinoma associated with multiple CNS tumours in a patient with neurofibromatosis type 2.

OBJECTIVE: Neurofibromatosis type 2 (NF2) is a common neurocutaneous disorder that exhibits an autosomal dominant inheritance, with a mutation at chromosome 22q12.2.

In general, patients present bilateral vestibular schwannomas, meningiomas and neurinomas of the central and peripheral nervous system as well as neurofibromas and gliomas.

There is no reported case of pulmonary meningiomas and neurinomas associated with NF2 until now.

PATIENT AND METHODS: Here, we present a 16-year-old girl with NF-2 associated to CNS and pulmonary tumours and we discuss the case in the backlight of the literature.

RESULTS: The reported patient presented a de novo NF2 germline mutation (R341X) and displayed the Wishart-type of NF-2 since she is 11 years old, with a huge anaplastic biparietal falx meningioma and a tentorium meningioma and a tumour-associated parietal mass as well as hypacusis starting at the infant age of 3 years.

CONCLUSION: This rare case extends our knowledge of NF2 and also raises interesting questions about the pathogenesis of meningiomas outside the CNS.

[MeSH-major] Central Nervous System Neoplasms / pathology. Lung Neoplasms / secondary. Meningioma / secondary. Neurofibromatosis 2 / complications

[MeSH-minor] Brain / radiography. Brain Edema. Child. Female. Genes, Neurofibromatosis 2 / physiology. Germ-Line Mutation. Humans. Lung / pathology. Magnetic Resonance Imaging. Tomography, X-Ray Computed

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(PMID = 19249154.001).

[ISSN] 1872-6968

[Journal-full-title] Clinical neurology and neurosurgery

[ISO-abbreviation] Clin Neurol Neurosurg

[Language] eng

[Publication-type] Case Reports; Journal Article

[Publication-country] Netherlands

   

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Neurofibromatosis 2 (NF2) is an inherited cancer syndrome in which affected individuals develop nervous system tumors, including schwannomas, meningiomas, and ependymomas.

The NF2 protein merlin (or schwannomin) is a member of the Band 4.1 superfamily of proteins, which serve as linkers between transmembrane proteins and the actin cytoskeleton.

In addition to mutational inactivation of the NF2 gene in NF2-associated tumors, mutations and loss of merlin expression have also been reported in other types of cancers.

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(PMID = 18632626.001).

[ISSN] 1538-7445

[Journal-full-title] Cancer research

[ISO-abbreviation] Cancer Res.

[Language] ENG

[Grant] United States / NCI NIH HHS / CA / 1F32CA128335-01A1; United States / NCI NIH HHS / CA / CA135158-02; United States / NCI NIH HHS / CA / R01 CA135158-02; United States / NCI NIH HHS / CA / CA135158-01A1; United States / NCI NIH HHS / CA / F32 CA128335; United States / NCI NIH HHS / CA / R01 CA135158-01A1; United States / NCI NIH HHS / CA / R01 CA135158; United States / NCI NIH HHS / CA / R01 CA150355

[Publication-type] Journal Article; Research Support, N.I.H., Extramural; Research Support, U.S. Gov't, Non-P.H.S.

[Publication-country] United States

[Chemical-registry-number] 0 / Neurofibromin 2; 0 / Wnt Proteins

[Other-IDs] NLM/ NIHMS147652; NLM/ PMC2778036

   

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[Title] [Difficulties of the management of head and neck neurofibromatosis].

[Transliterated title] Difficultés de la prise en charge des atteintes de l'extrémité céphalique dans les neurofibromatoses.

INTRODUCTION: Neurofibromatoses represent a group of 7 diseases having the same cutaneous signs due to a common embryologic origin.

Neurofibromatosis type 1 (NF1) or Von Recklinghausen's neurofibromatosis is an autosomal dominantly inherited disease, whose prevalence is 1/4500.

Neurofibromatosis type 2 (NF2) is also an autosomal dominantly inherited disease, but is ten times less frequent than the NF1 and is characterized by bilateral vestibular schwannomas (former acoustic neurinomas).

Eight patients were found carrier of NF1 and one patient carrier of NF2 according to the diagnostic criteria of the 1988's National Institute of Health consensus.

The patient having NF2 was treated by neurosurgery and showed a good result.

Facial neurofibromatoses are difficult to control given the presence of soft tissues infiltration and the associated osseous dysplasia.

Cancer risks and the disease's completely unpredictable evolution urge a regular and multidisciplinary patient follow-up.

[MeSH-major] Head and Neck Neoplasms / surgery. Neurofibromatosis 1 / surgery. Neurofibromatosis 2 / surgery

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(PMID = 17137698.001).

[ISSN] 0294-1260

[Journal-full-title] Annales de chirurgie plastique et esthétique

[ISO-abbreviation] Ann Chir Plast Esthet

[Language] fre

[Publication-type] English Abstract; Journal Article

[Publication-country] France

   

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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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[Title] Differential gene expression between human schwannoma and control Schwann cells.

The NF2 gene encodes the tumour suppressor protein merlin.

The mutation of a single allele of this gene causes the autosomal dominantly inherited disease neurofibromatosis type 2 (NF2), which is characterized mainly by vestibular schwannoma carrying a second hit mutation.

As the events leading to schwannoma development are largely unknown we investigated the differences in gene expression between schwannoma cells from NF2 patients and normal human primary Schwann cells by cDNA array analysis.

By this method a total of seven genes with increased and seven genes with decreased mRNA levels in schwannoma compared with normal Schwann cells could be identified.

[MeSH-major] Gene Expression. Neurilemmoma / genetics. Neurofibromatosis 2 / genetics. Schwann Cells / physiology

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(PMID = 17083475.001).

[ISSN] 0305-1846

[Journal-full-title] Neuropathology and applied neurobiology

[ISO-abbreviation] Neuropathol. Appl. Neurobiol.

[Language] eng

[Publication-type] Journal Article

[Publication-country] England

[Chemical-registry-number] 0 / RNA, Messenger

   

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[Title] Neurofibromatosis type 2: a case of ptosis.

BACKGROUND: Neurofibromatosis type 2 (NF2) is a disorder usually diagnosed later in life since the features are subtle in children.

The hallmark is bilateral vestibular schwannomas, which may not appear until after the second decade.

Here is described a rare case of NF2 associated with a superior rectus muscle paralysis and severe ptosis.

CASE REPORT: A 17-year-old patient with NF2 was referred to us with diagnosis of left-eye superior rectus muscle paralysis, with a later onset of unilateral severe ptosis.

The patient showed positive familiar history for NF (the father was affected), bilateral involvement of the acoustic nerves (schwannoma), multiple neurofibromas, and bilateral posterior subcapsular lens opacity.

Magnetic resonance imaging (MRI) showed bilateral acoustic neuromas in the left temporal region close to the cavernous sinus; since neurological examination and ocular motility problems had remained stationary over time, surgical correction of ptosis and strabismus was suggested.

CONCLUSION: Palpebral ptosis has rarely been reported in NF2.

[MeSH-major] Blepharoptosis / complications. Neurofibromatosis 2 / complications. Oculomotor Muscles / pathology. Ophthalmoplegia / complications

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(PMID = 17347811.001).

[ISSN] 0721-832X

[Journal-full-title] Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie

[ISO-abbreviation] Graefes Arch. Clin. Exp. Ophthalmol.

[Language] eng

[Publication-type] Case Reports; Journal Article

[Publication-country] Germany

   

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OBJECTIVE: To assess the risk of radiosurgery inducing malignancy in neurofibromatosis-2 (NF2) and von Hippel-Lindau disease.

METHODS: A retrospective cohort study of 118 NF2 and 19 von Hippel-Lindau disease patients, totalling 906 and 62 patient-years of follow-up data, respectively.

RESULTS: Two cases of intracranial malignancy were identified, both of which occurred in NF2 patients.

CONCLUSION: Because gliomas may occur in as many as 4% of NF2 patients, this may not represent an increased risk.

We continue to offer radiosurgery treatment to selected NF2 and von Hippel-Lindau disease patients and consider that the late risk of malignancy arising after irradiation must be put in the context of the condition being treated, the treatment options available to these individuals, and their life expectancy.

[MeSH-minor] Adult. Cohort Studies. Female. Follow-Up Studies. Humans. Male. Middle Aged. Neurofibromatosis 2 / epidemiology. Neurofibromatosis 2 / genetics. Neurofibromatosis 2 / surgery. Retrospective Studies. von Hippel-Lindau Disease / epidemiology. von Hippel-Lindau Disease / genetics. von Hippel-Lindau Disease / surgery

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(PMID = 17460521.001).

[ISSN] 1524-4040

[Journal-full-title] Neurosurgery

[ISO-abbreviation] Neurosurgery

[Language] eng

[Publication-type] Journal Article

[Publication-country] United States

   

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[Title] [Molecular characterisation of SMARCB1 and NF2 in familial and sporadic schwannomatosis: an evolving paradigm].

[Transliterated title] Caractérisation moléculaire de SMARCB1 et NF2 dans la schwannomatose familiale et sporadique : un paradigme qui évolue.

[MeSH-major] Chromosomal Proteins, Non-Histone. DNA-Binding Proteins. Neurilemmoma / genetics. Neurofibromatosis 2 / genetics. Transcription Factors

[MeSH-minor] Animals. Chromosomes, Human, Pair 22 / genetics. Disease Models, Animal. Humans. Mice. Mutation

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(PMID = 19084709.001).

[ISSN] 0151-9638

[Journal-full-title] Annales de dermatologie et de vénéréologie

[ISO-abbreviation] Ann Dermatol Venereol

[Language] fre

[Publication-type] Journal Article

[Publication-country] France

[Chemical-registry-number] 0 / Chromosomal Proteins, Non-Histone; 0 / DNA-Binding Proteins; 0 / SMARCB1 protein, human; 0 / Transcription Factors

   

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[Title] Atypical manifestation of neurofibromatosis type 2 in a boy.

[MeSH-major] Cataract / diagnosis. Cranial Nerve Neoplasms / diagnosis. Neurilemmoma / diagnosis. Neurofibromatosis 2 / diagnosis. Trigeminal Nerve Diseases / diagnosis

[MeSH-minor] Child. Codon, Nonsense. Genes, Neurofibromatosis 2. Humans. Male

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(PMID = 15192694.001).

[ISSN] 0950-222X

[Journal-full-title] Eye (London, England)

[ISO-abbreviation] Eye (Lond)

[Language] eng

[Publication-type] Case Reports; Letter

[Publication-country] England

[Chemical-registry-number] 0 / Codon, Nonsense

   

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OBJECTIVES: To summarize the indications and evaluate the Auditory Brainstem Implant (ABI) performances in neurofibromatosis type 2 (NF2) and other otologics indications, as postmeningitis ossified cochlea.

MATERIAL AND METHODS: Main and first indication of ABI is NF2.

Emergent indications are bilateral total ossified cochlea, vestibular schwannoma with controlateral lesions, cochlear nerve aplasia or inner ear's malformations.

RESULTS: In NF2 patients, best results are obtained in cases of smaller vestibular schwannoma and none, or short term, auditory deprivation.

CONCLUSION: These results show a clear benefit of ABI in NF2 patients, with or without previous tumor removal, in case of small tumor with a short duration of hearing loss.

[MeSH-minor] Brain / pathology. Calcinosis / etiology. Calcinosis / pathology. Cochlear Diseases / etiology. Cochlear Diseases / pathology. Cochlear Nerve / pathology. Cochlear Nerve / surgery. Electrodes, Implanted. Female. Humans. Magnetic Resonance Imaging. Middle Aged. Neurofibromatosis 2 / complications. Neuroma, Acoustic / complications. Neuroma, Acoustic / pathology. Neuroma, Acoustic / surgery

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(PMID = 17320034.001).

[ISSN] 0003-438X

[Journal-full-title] Annales d'oto-laryngologie et de chirurgie cervico faciale : bulletin de la Société d'oto-laryngologie des hôpitaux de Paris

[ISO-abbreviation] Ann Otolaryngol Chir Cervicofac

[Language] fre

[Publication-type] Case Reports; English Abstract; Journal Article

[Publication-country] France

   

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[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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[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

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(PMID = 18194696.001).

[ISSN] 0009-9260

[Journal-full-title] Clinical radiology

[ISO-abbreviation] Clin Radiol

[Language] eng

[Publication-type] Journal Article

[Publication-country] England

[Chemical-registry-number] 0 / Contrast Media

   

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Mutations in the NF2 gene probably account for the formation of more than half of all meningiomas.

On the other hand, the molecular events underlying the initiation of meningiomas without NF2 mutations have yet to be identified.

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(PMID = 17460514.001).

[ISSN] 1524-4040

[Journal-full-title] Neurosurgery

[ISO-abbreviation] Neurosurgery

[Language] eng

[Publication-type] Journal Article; Review

[Publication-country] United States

[Number-of-references] 119

   

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[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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[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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[Title] Neurofibromatosis.

As familial cancer syndromes, the neurofibromatoses exhibit complex phenotypes, comprising a range of tumor and nontumor manifestations.

Although the three recognized forms of neurofibromatosis (NF1, NF2, and schwannomatosis) all feature the development of nervous system tumors, their underlying genetic bases are clearly distinct.

Recent progress in delineating the molecular function of the NF1- and NF2-encoded proteins, together with the development and use of manipulable mouse models, has led to important advances in understanding the pathogenesis of many features of neurofibromatosis.

An important outcome of the study of neurofibromatosis-associated tumorigenesis has been insight into the more general molecular and cellular bases of nervous system tumors.

[MeSH-major] Nervous System Neoplasms / pathology. Neurilemmoma / pathology. Neurofibromatosis 1 / pathology. Neurofibromatosis 2 / pathology

[MeSH-minor] Animals. Disease Models, Animal. Humans. Mice. Neurofibromin 1 / genetics. Neurofibromin 1 / metabolism. Neurofibromin 2 / genetics. Neurofibromin 2 / metabolism. Peripheral Nervous System / metabolism. Peripheral Nervous System / pathology. Schwann Cells / metabolism. Schwann Cells / pathology

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Mouse Genome Informatics (MGI). Mouse Genome Informatics (MGI) .

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(PMID = 18039098.001).

[ISSN] 1553-4006

[Journal-full-title] Annual review of pathology

[ISO-abbreviation] Annu Rev Pathol

[Language] eng

[Grant] United States / NCI NIH HHS / CA / R01CA113733-01

[Publication-type] Journal Article; Research Support, N.I.H., Extramural; Research Support, U.S. Gov't, Non-P.H.S.; Review

[Publication-country] United States

[Chemical-registry-number] 0 / Neurofibromin 1; 0 / Neurofibromin 2

[Number-of-references] 148

   

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[Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.

[Title] Fractionated conformal radiotherapy in vestibular schwannoma: early results from a single centre.

AIMS: To assess the local control and cranial nerve toxicity in vestibular schwannoma patients treated with fractionated conformal radiotherapy delivered using a linear accelerator.

There were five neurofibromatosis type 2 patients treated, two of whom had useful hearing before radiotherapy.

CONCLUSION: Although follow-up was relatively short in this single institution series, fractionated linear accelerator radiotherapy gave excellent local control, useful hearing preservation and retained cranial nerve function in vestibular schwannoma.

[MeSH-minor] Adult. Aged. Aged, 80 and over. Cranial Nerves / radiation effects. Dose Fractionation. Female. Hearing / radiation effects. Humans. Male. Middle Aged. Neuroma, Acoustic. Stereotaxic Techniques

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(PMID = 17400433.001).

[ISSN] 0936-6555

[Journal-full-title] Clinical oncology (Royal College of Radiologists (Great Britain))

[ISO-abbreviation] Clin Oncol (R Coll Radiol)

[Language] eng

[Publication-type] Journal Article

[Publication-country] England

   

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[Title] [Technique of hearing preservation during acoustic neuroma surgery].

OBJECTIVE: To explore the possibility of hearing protection in acoustic neurinoma (AN) resection and to evaluate the effect of dynamic auditory monitoring and the effect of oto-endoscope for hearing protection.

Fifteen cases were solitary AN, 3 cases were diagnosed as neurofibromatosis II.

RESULTS: In all 18 cases, tumors were resected completely in 16 cases, but sub-totally removed in 2 cases which were II neurofibromatosis.

According to House-Brackmann grade system, for 18 AN patients 7 days after operation only 50.0% (9/18) were kept at grade I to II , but 88.9% (16/18) were kept at grade I to II 6 months after operation.

[MeSH-major] Hearing Loss / prevention & control. Neuroma, Acoustic / surgery. Otologic Surgical Procedures

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(PMID = 18959258.001).

[ISSN] 1673-0860

[Journal-full-title] Zhonghua er bi yan hou tou jing wai ke za zhi = Chinese journal of otorhinolaryngology head and neck surgery

[ISO-abbreviation] Zhonghua Er Bi Yan Hou Tou Jing Wai Ke Za Zhi

[Language] chi

[Publication-type] English Abstract; Journal Article

[Publication-country] China

   

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Benign epithelioid peripheral nerve sheath tumors (BEPNSTs) have not been fully characterized, and their relationship to conventional schwannoma and neurofibroma has not been satisfactorily established.

Only one patient probably has neurofibromatosis type 1.

Immunohistochemical reactivity for Schwann cell-related markers in tumor cells included S-100 protein (20 of 20 cases), collagen type IV (10 of 10), laminin (8 of 8), nerve growth factor receptor, p75(7 of 8), CD57 (6 of 9), and glial fibrillary acidic protein (8 of 15).

The remaining 15 cases showed some histologic features suggestive of schwannoma, but their uniform cellularity, absence of nuclear palisading, and presence of a significant CD34-positive spindled cell population in 5 cases led to their classification as "BEPNST of indeterminate histogenesis."

Evaluation for loss of heterozygosity in 2 cases demonstrated deletion of genetic material on chromosome 22q and 17q involving NF2 and NF1 loci.

However, sequencing of NF2 coding sequences revealed no mutations.

Follow-up for 18 patients (median interval, 13.5 years), including 4 patients with tumors exhibiting cytologic atypia, revealed a nondestructive recurrence or persistent disease in 3 patients whose tumors lacked atypia, but no evidence of metastatic spread or tumor-related death.

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(PMID = 15613855.001).

[ISSN] 0147-5185

[Journal-full-title] The American journal of surgical pathology

[ISO-abbreviation] Am. J. Surg. Pathol.

[Language] eng

[Publication-type] Journal Article

[Publication-country] United States

[Chemical-registry-number] 0 / Biomarkers, Tumor; 0 / DNA, Neoplasm; 0 / Neurofibromin 1; 0 / Neurofibromin 2

   

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[Title] Mixed vestibular schwannoma and meningioma without neurofibromatosis.

The co-existence of meningioma and schwannoma as 2 distinct histologic components within the same tumor has been described in neurofibromatosis 2 (NF2), but the co-existence of both tumors without evidence of NF2 is much rarer.

Here, we are reporting a case of mixed schwannoma with meningioma without clinical evidence of NF2.

In an adult Saudi lady with progressive left-sided hearing loss, left cerebellopontine tumor was diagnosed by MRI, and the histopathological diagnosis revealed that this tumor was composed of vestibular schwannoma and meningioma.

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(PMID = 21048654.001).

[ISSN] 1319-6138

[Journal-full-title] Neurosciences (Riyadh, Saudi Arabia)

[ISO-abbreviation] Neurosciences (Riyadh)

[Language] eng

[Publication-type] Journal Article

[Publication-country] Saudi Arabia

   

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BACKGROUND: The management of children with oculomotor nerve palsy is complicated by their variable presentation, amblyopia, potential loss of binocularity, and associated neurological disease.

Primary aberrant regeneration was the presenting sign in a child with neurofibromatosis type 2.

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(PMID = 16391633.001).

[ISSN] 0008-4182

[Journal-full-title] Canadian journal of ophthalmology. Journal canadien d'ophtalmologie

[ISO-abbreviation] Can. J. Ophthalmol.

[Language] ENG

[Publication-type] Journal Article

[Publication-country] England

   

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[Title] Role of intracanalicular volumetric and dosimetric parameters on hearing preservation after vestibular schwannoma radiosurgery.

PURPOSE: To analyze the relationship between hearing preservation after gamma knife radiosurgery (GKR) for vestibular schwannoma (VS) and some volumetric and dosimetric parameters of the intracanalicular components of vs. METHODS AND MATERIALS: This study included 82 patients with a VS treated by GKR; all patients had no NF2 disease, a Gardner-Robertson hearing class 1-4 before treatment, a marginal dose of 12 Gy, and a radiologic and audiologic follow-up > or =1 year post-GKR.

[MeSH-major] Neuroma, Acoustic / surgery. Radiosurgery

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(PMID = 16458446.001).

[ISSN] 0360-3016

[Journal-full-title] International journal of radiation oncology, biology, physics

[ISO-abbreviation] Int. J. Radiat. Oncol. Biol. Phys.

[Language] eng

[Publication-type] Journal Article

[Publication-country] United States

   

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[Title] Hearing improvement after bevacizumab for neurofibromatosis type 2.

[MeSH-major] Angiogenesis Inhibitors / therapeutic use. Antibodies, Monoclonal / therapeutic use. Hearing Loss / drug therapy. Neurofibromatosis 2 / complications. Neuroma, Acoustic / drug therapy

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[CommentOn] N Engl J Med. 2009 Jul 23;361(4):358-67 [19587327.001]

(PMID = 19864683.001).

[ISSN] 1533-4406

[Journal-full-title] The New England journal of medicine

[ISO-abbreviation] N. Engl. J. Med.

[Language] eng

[Publication-type] Comment; Letter

[Publication-country] United States

[Chemical-registry-number] 0 / Angiogenesis Inhibitors; 0 / Antibodies, Monoclonal; 0 / Antibodies, Monoclonal, Humanized; 2S9ZZM9Q9V / Bevacizumab

   

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Genetic alterations in the tumour suppressor genes, P16/CDKN2A and neurofibromatosis 2 (NF2), are found both in human MPM and in asbestos-exposed Nf2-deficient mice.

Despite a ban on asbestos use in Western countries, the incidence of MPM is increasing, due to the long delay between asbestos exposure and diagnosis.

[MeSH-minor] Animals. Asbestosis / complications. Cell Transformation, Neoplastic / pathology. Cocarcinogenesis. Genes, Neurofibromatosis 2. Genes, Tumor Suppressor. Humans. Mice. Polyomavirus Infections / complications. Simian virus 40. Tumor Virus Infections / complications

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SciCrunch. KEGG: Data: Disease Annotation .

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(PMID = 15691231.001).

[ISSN] 1323-7799

[Journal-full-title] Respirology (Carlton, Vic.)

[ISO-abbreviation] Respirology

[Language] eng

[Publication-type] Journal Article; Review

[Publication-country] Australia

[Number-of-references] 68

   

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[Title] Plexiform schwannoma of the esophagus in a child with neurofibromatosis type 2.

Schwannoma is a benign neoplasia of the peripheral nerve sheath.

According to the existing literature esophageal schwannoma has been reported so far only in adult patients.

We report the case of an 11 year old patient with neurofibromatosis, type 2, who underwent surgical excision of a plexiform schwannoma of the esophagus.

[MeSH-major] Esophageal Neoplasms / diagnosis. Esophagectomy / methods. Neoplasms, Multiple Primary. Neurilemmoma / diagnosis. Neurofibromatosis 2 / diagnosis

[MeSH-minor] Child. Diagnosis, Differential. Female. Follow-Up Studies. Humans. Magnetic Resonance Imaging. Tomography, X-Ray Computed

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(PMID = 19573680.001).

[ISSN] 1531-5037

[Journal-full-title] Journal of pediatric surgery

[ISO-abbreviation] J. Pediatr. Surg.

[Language] eng

[Publication-type] Case Reports; Journal Article

[Publication-country] United States