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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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(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

   

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[Title] Spinal myxopapillary ependymoma metastatic to bilateral internal auditory canals.

OBJECTIVES: We report a rare case of spinal myxopapillary ependymoma metastatic to both internal auditory canals (IACs) and its implications for diagnosing neurofibromatosis type 2 (NF2).

METHODS: We present a detailed clinical history, magnetic resonance imaging (MRI), intraoperative photographs, and histopathologic findings from a patient with bilateral IAC lesions, and review the diagnostic criteria for NF2.

The diagnosis of NF2 with bilateral vestibular schwannomas was entertained.

This finding raised the possibility of other, more unusual IAC lesions.

The patient underwent sequential suboccipital craniotomies for tissue diagnosis, and both IAC lesions were found to be myxopapillary ependymomas.

Although vestibular schwannomas account for the majority of contrast-enhancing T1-weighted IAC lesions, other uncommon lesions may present in a similar manner.

Therefore, both T1-weighted MRI with or without contrast and T2-weighted MRI may be necessary to distinguish vestibular schwannoma from other, more unusual IAC lesions.

[MeSH-major] Ear Neoplasms / diagnosis. Ear Neoplasms / secondary. Ependymoma / diagnosis. Ependymoma / secondary. Labyrinth Diseases / diagnosis. Spinal Cord Neoplasms / pathology

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(PMID = 18357830.001).

[ISSN] 0003-4894

[Journal-full-title] The Annals of otology, rhinology, and laryngology

[ISO-abbreviation] Ann. Otol. Rhinol. Laryngol.

[Language] eng

[Publication-type] Case Reports; Journal Article

[Publication-country] United States

   

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[Title] Anorexic vs. metabolic effects of central leptin infusion in rats of various ages and nutritional states.

In the present experiments, the anorexic (suppressing food intake and body weight) and hypermetabolic (increasing body temperature (Tc), activity, and heart rate (HR), indicating metabolic rate) responses to 7-day-long intracerebroventricular leptin infusion were compared in 2- and 6-month-old normally fed (NF2 and NF6 groups), 6-month-old high-fat-diet-induced obese (HF6), and 6-month-old calorie-restricted (CR6) rats.

The anorexic effects were inversely related to fat content: They were most pronounced in NF2, less in NF6, non-significant in HF6 rats, but also absent in CR6 animals of the lowest fat content.

In contrast, CR6 rats were hypersensitive to the metabolic effects of leptin infusion (rise in Tc and HR; biotelemetric measurements), NF2 were still sensitive, while NF6 and HF6 rats exhibited moderate or low sensitivity.

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(PMID = 19777381.001).

[ISSN] 1559-1166

[Journal-full-title] Journal of molecular neuroscience : MN

[ISO-abbreviation] J. Mol. Neurosci.

[Language] eng

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

[Publication-country] United States

[Chemical-registry-number] 0 / Dietary Fats; 0 / Leptin

   

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[Title] Combined nasal and skull base pathology: adjacent nasal schwannoma and olfactory groove meningioma.

Following surgical removal of the lesion histopathology confirmed the presence of both a nasal schwannoma and an olfactory groove meningioma.

This dual pathology may represent a variation of neurofibromatosis type 2 (NF-2).

[MeSH-major] Meningioma / diagnosis. Neoplasms, Multiple Primary / diagnosis. Neurilemmoma / diagnosis. Nose Neoplasms / diagnosis. Skull Base Neoplasms / diagnosis

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(PMID = 16455571.001).

[ISSN] 0268-8697

[Journal-full-title] British journal of neurosurgery

[ISO-abbreviation] Br J Neurosurg

[Language] eng

[Publication-type] Case Reports; Journal Article

[Publication-country] England

   

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Multichannel auditory brainstem implants (ABI) are currently indicated for patients with neurofibromatosis type II (NF2) involving both vestibulocochlear nerves.

The implant is usually placed in the lateral recess of the fourth ventricle at the time of tumor resection to stimulate the cochlear nucleus.

We report a case of ABI done on a 15-year-old girl with bilateral vestibular schwannomas.

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(PMID = 23120129.001).

[ISSN] 2231-3796

[Journal-full-title] Indian journal of otolaryngology and head and neck surgery : official publication of the Association of Otolaryngologists of India

[ISO-abbreviation] Indian J Otolaryngol Head Neck Surg

[Language] eng

[Publication-type] Journal Article

[Publication-country] India

[Other-IDs] NLM/ PMC3451539

[Keywords] NOTNLM ; auditory brainsterm unplants / neurofibromatosis

   

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[Title] p21-Activated kinases are required for transformation in a cell-based model of neurofibromatosis type 2.

BACKGROUND: NF2 is an autosomal dominant disease characterized by development of bilateral vestibular schwannomas and other benign tumors in central nervous system.

Loss of the NF2 gene product, Merlin, leads to aberrant Schwann cell proliferation, motility, and survival, but the mechanisms by which this tumor suppressor functions remain unclear.

CONCLUSIONS/SIGNIFICANCE: These results suggest that Pak functions in novel signaling pathways in NF2, and may serve as a useful therapeutic target in this disease.

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(PMID = 21072183.001).

[ISSN] 1932-6203

[Journal-full-title] PloS one

[ISO-abbreviation] PLoS ONE

[Language] ENG

[Grant] United States / NCI NIH HHS / CA / P30 CA006927; United States / NCI NIH HHS / CA / R01 CA117884; United States / NCI NIH HHS / CA / CA117884

[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; EC 2.7.11.1 / p21-Activated Kinases

[Other-IDs] NLM/ PMC2970553

   

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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] England

   

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These tumors can arise in the context of hereditary cancer syndromes such as von Hippel- Lindau disease, multiple endocrine neoplasia type 2, and neurofibromatosis 1.

This review focuses on the genetics of these tumors and suggests a possible link between familial pheochromocytomas/paraganglioma genes and control of neuronal apoptosis during embryological development.

[MeSH-major] Adrenal Gland Neoplasms / genetics. Fetal Development / physiology. Genetic Predisposition to Disease. Paraganglioma / genetics. Pheochromocytoma / genetics

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(PMID = 17159241.001).

[ISSN] 1046-3976

[Journal-full-title] Endocrine pathology

[ISO-abbreviation] Endocr. Pathol.

[Language] eng

[Publication-type] Journal Article; Review

[Publication-country] United States

[Chemical-registry-number] 9061-61-4 / Nerve Growth Factor; EC 1.3.99.1 / Succinate Dehydrogenase

[Number-of-references] 63

   

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[Title] Neurofibromatosis type 2 and auditory brainstem implantation.

[MeSH-major] Auditory Brain Stem Implantation / methods. Neurofibromatosis 2 / surgery

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(PMID = 17825179.001).

[ISSN] 0366-6999

[Journal-full-title] Chinese medical journal

[ISO-abbreviation] Chin. Med. J.

[Language] eng

[Publication-type] Case Reports; Journal Article

[Publication-country] China

   

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[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

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(PMID = 16341811.001).

[ISSN] 1389-9600

[Journal-full-title] Familial cancer

[ISO-abbreviation] Fam. Cancer

[Language] eng

[Publication-type] Case Reports; Journal Article

[Publication-country] Netherlands

[Chemical-registry-number] 1332-21-4 / Asbestos

   

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Genetic alterations of neurofibromatosis type 2 (NF2) gene lead to the development of schwannomas, meningiomas, and ependymomas.

Mutations of NF2 gene were also found in thyroid cancer, mesothelioma, and melanoma, suggesting that it functions as a tumor suppressor in a wide spectrum of cells.

The product of NF2 gene is merlin (moesin-ezrin-radixin-like protein), a member of the Band 4.1 superfamily proteins.

Accumulating data also suggested an emerging role of merlin as a negative regulator of growth and progression of several non-NF2 associated cancer types.

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[Cites] Nat Cell Biol. 2008 Jul;10(7):837-48 [18568018.001]

[Cites] Cancer Res. 2008 Jul 15;68(14):5733-42 [18632626.001]

[Cites] Cell Stem Cell. 2008 Aug 7;3(2):221-7 [18682243.001]

[Cites] Dev Cell. 2008 Aug;15(2):209-19 [18694561.001]

[Cites] J Biol Chem. 2008 Oct 10;283(41):27534-46 [18640976.001]

[Cites] Neoplasia. 2008 Nov;10(11):1204-12 [18953429.001]

[Cites] Clin Cancer Res. 2008 Nov 1;14(21):6751-60 [18980968.001]

[Cites] Mol Cell Biol. 2009 Mar;29(6):1472-86 [19103750.001]

[Cites] Dev Cell. 2009 Mar;16(3):433-44 [19289088.001]

[Cites] J Invest Dermatol. 2009 Jun;129(6):1321-4 [19434087.001]

[Cites] Trends Cell Biol. 2009 May;19(5):198-206 [19345106.001]

[Cites] Mol Cell Biol. 2009 Aug;29(15):4250-61 [19451225.001]

[Cites] Mol Cell Biol. 2009 Aug;29(15):4235-49 [19451229.001]

(PMID = 20491622.001).

[ISSN] 1875-5550

[Journal-full-title] Current protein & peptide science

[ISO-abbreviation] Curr. Protein Pept. Sci.

[Language] ENG

[Grant] United States / NCI NIH HHS / CA / CA135158-02; United States / NCI NIH HHS / CA / R01 CA135158-02; United States / NCI NIH HHS / CA / CA150355-01A1; United States / NCI NIH HHS / CA / R01 CA150355-01A1; United States / NCI NIH HHS / CA / 1R01CA150355-01A1; United States / NCI NIH HHS / CA / R01 CA135158; United States / NCI NIH HHS / CA / R01 CA150355; United States / NCI NIH HHS / CA / 1R01CA135158-01A1

[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.; Review

[Publication-country] Netherlands

[Chemical-registry-number] 0 / Neurofibromin 2

[Other-IDs] NLM/ NIHMS236013; NLM/ PMC2946555

   

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Merlin, the protein product of the neurofibromatosis type 2 gene (NF2) acts as a tumor suppressor in mice and humans.

In this study, melanoma B16F10 cells were engineered to overexpress the NF2 gene by establishing stable transductants.

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(PMID = 18497985.001).

[ISSN] 1019-6439

[Journal-full-title] International journal of oncology

[ISO-abbreviation] Int. J. Oncol.

[Language] eng

[Publication-type] Journal Article

[Publication-country] Greece

[Chemical-registry-number] 0 / Neurofibromin 2; 9050-30-0 / Heparitin Sulfate

   

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Schwannomas, tumors originating from Schwann cells, represent a frequent neurological tumor and can occur both in a genetic disorder called neurofibromatosis type 2 (NF2) and sporadically.

In both cases the genetic background is identical as all schwannomas are caused by biallelic mutations in the tumor suppressor gene NF2 coding for merlin.

Mutations in this gene have also been found to be responsible for 50% to 60% of spontaneous and 100% of the NF2 associated meningiomas.

The NF2 gene product, merlin, links transmembrane proteins to the cytoskeleton and is involved in intracellular signaling processes.

It has previously been shown that reexpression of wild-type merlin in primary human schwannoma cells leads to an increase in the number of apoptotic cells.

Here, we report in vivo and in vitro evidence that the basal apoptosis rate of primary human schwannoma cells is reduced in comparison to that of normal Schwann cells, supporting the idea that in this benign tumor type, apoptosis has a role in tumorigenesis.

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(PMID = 15779232.001).

[ISSN] 1015-6305

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

[ISO-abbreviation] Brain Pathol.

[Language] eng

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

[Publication-country] Switzerland

   

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METHODS: In this retrospective analysis, the authors describe the cases of 12 patients who had received a diagnosis of intraventricular meningioma and underwent surgery for the tumors.

Features of neurofibromatosis Type 2 were present in two of the women.

Nine of the tumors were located in the lateral ventricles, one was in the third ventricle, and two were in the fourth ventricle.

Excision was performed using the parietooccipital (trigonal) approach for lateral ventricle tumors, the transcortical-transventricular route for the third ventricle tumor, and suboccipital craniectomy for fourth ventricle tumors.

Although they are commonly seen in the lateral ventricles, they occur in the third and fourth ventricles as well.

Presentation is in the form of raised ICP with no localizing features; therefore the diagnosis is based on imaging studies.

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(PMID = 16599425.001).

[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] 26

   

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[Title] Refractive errors in neurofibromatosis type 1 and type 2.

OBJECTIVE: To document the prevalence of refractive errors in patients with neurofibromatosis type 1 (NF1) and type 2 (NF2) and to compare it with that of age- and sex-matched controls.

METHODS: 82 patients with NF1, 21 patients with NF2 and 103 age- and sex-matched controls were evaluated in this prospective observational case-control study.

RESULTS: The prevalence of myopia was 23.1% in patients with NF1, 23.8% in patients with NF2 and 16.5% in age- and sex-matched controls.

These differences were significant (p<0.03, p<0.03), and adjusting for intelligence, education, height, weight and BMI increased the significance of this finding (p<0.001, p<0.001).

CONCLUSION: A high prevalence of myopia seems to be an additional feature of NF1 and NF2.

[MeSH-major] Neurofibromatosis 1 / complications. Neurofibromatosis 2 / complications. Refractive Errors / etiology

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[Cites] Arch Ophthalmol. 1983 Mar;101(3):405-7 [6830491.001]

[Cites] Acta Ophthalmol Suppl. 1988;185:41-3 [2853538.001]

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(PMID = 17202204.001).

[ISSN] 0007-1161

[Journal-full-title] The British journal of ophthalmology

[ISO-abbreviation] Br J Ophthalmol

[Language] eng

[Publication-type] Journal Article

[Publication-country] England

[Other-IDs] NLM/ PMC1955624

   

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Sporadic pheochromocytoma is a rare tumor that should be taken into account in patients with hypertensive crisis, arrhythmias, and panic disorder.

Familial pheochromocytoma is frequently found in subjects with von Hippel-Lindau disease, multiple endocrine neoplasia type II, neurofibromatosis, and SDHD gene mutations.

Plasma free metanephrines have been shown to have high sensitivity and specificity in the biochemical diagnosis of sporadic and familial pheochromocytoma.

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(PMID = 18350500.001).

[ISSN] 0393-5590

[Journal-full-title] Giornale italiano di nefrologia : organo ufficiale della Società italiana di nefrologia

[ISO-abbreviation] G Ital Nefrol

[Language] ita

[Publication-type] English Abstract; Journal Article; Review

[Publication-country] Italy

[Number-of-references] 49

   

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[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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[Cites] Am J Hum Genet. 2000 Jan;66(1):84-91 [10631138.001]

[Cites] Nat Med. 1999 Sep;5(9):1071-5 [10470088.001]

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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

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

[Other-IDs] NLM/ PMC1736122

   

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[Title] Evaluation of hearing function after Gamma Knife surgery of vestibular schwannomas.

OBJECT: Due to technological advances in neuroradiology in recent years, incidental diagnoses of vestibular schwannomas (VSs) have increased.

METHODS: Of all patients treated in the authors' hospital between 2001 and 2007, they retrospectively studied 50 patients with a unilateral VS in whom there was serviceable hearing (Gardner-Robertson [GR] Class I or II).

Additional inclusion criteria were: no Type 2 neurofibromatosis, no previous treatment, and at least 6 months' follow-up of neuroradiological and audiological data.

Serviceable hearing was preserved in 34 patients (68%): 21 (62%) with GR Class I hearing and 13 (38%) with GR Class II hearing.

In 19 (58%) of 33 patients with GR Class I function before GKS the same class was maintained posttreatment; 29 (88%) maintained functional hearing (GR Class I or II).

Significant prognostic factors for maintaining serviceable hearing were GR Class I function before treatment, symptoms at presentation, patient age younger than 54 years, and Koos Stage T1 disease.

The prescribed dose of 13 Gy appears to represent an excellent compromise between controlling the disease and preserving auditory function.

[MeSH-major] Hearing Loss / prevention & control. Neuroma, Acoustic / surgery. Postoperative Complications / prevention & control. Radiosurgery / methods

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(PMID = 19951056.001).

[ISSN] 1092-0684

[Journal-full-title] Neurosurgical focus

[ISO-abbreviation] Neurosurg Focus

[Language] eng

[Publication-type] Comparative Study; Journal Article

[Publication-country] United States

   

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Ehm2, a member of NF2/ERM/4.1 superfamily, has been indicated in disease progression and metastasis of prostate cancer.

Higher levels of Ehm2 transcripts were correlated with disease progression, metastasis, and poor prognosis.

Disease-free survival of the patients with lower levels of Ehm2 was 135.8 (95% confidence interval, 125.1-146.5) months, significantly longer compared with 102.5 (95% confidence interval, 78.7-126.4) months of patients with higher levels of Ehm2 expression (P = 0.039).

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[Copyright] ©2010 AACR.

(PMID = 21047774.001).

[ISSN] 1557-3125

[Journal-full-title] Molecular cancer research : MCR

[ISO-abbreviation] Mol. Cancer Res.

[Language] eng

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

[Publication-country] United States

[Chemical-registry-number] 0 / Cytoskeletal Proteins; 0 / EPB41L4B protein, human; 0 / RNA, Catalytic; 0 / hammerhead ribozyme; EC 3.4.24.35 / Matrix Metalloproteinase 9

   

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[Title] Sporadic acoustic neuroma in pediatric patients.

OBJECTIVE: Sporadic acoustic neuroma, usually occur between the ages of 40 and 70 years, are very rare in children.

We review the experiences of 10 cases of sporadic (non-NF2) acoustic neuromas in pediatric patients.

Among these almost 900 cases were acoustic neuromas.

Postoperatively seven cases the facial nerve recovered to grade I, and one each to grade II and grade VI of House-Brackmann classification.

[MeSH-major] Neuroma, Acoustic / epidemiology

[MeSH-minor] Adolescent. Adult. Child. Child, Preschool. Female. Hearing Loss, Sensorineural / diagnosis. Hearing Loss, Sensorineural / epidemiology. Humans. Incidence. Male. Paresis / diagnosis. Paresis / epidemiology. Paresis / etiology. Postoperative Complications. Prevalence. Tomography, X-Ray Computed

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(PMID = 17643497.001).

[ISSN] 0165-5876

[Journal-full-title] International journal of pediatric otorhinolaryngology

[ISO-abbreviation] Int. J. Pediatr. Otorhinolaryngol.

[Language] eng

[Publication-type] Journal Article

[Publication-country] Ireland

   

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The DAL-1/41B gene (differentially expressed in adenocarcinoma of the lung), located in the chromosome 18p11.3 region, belongs to the protein family 4.1 (membrane-associated proteins), which includes the product of the NF2 gene (merlin), and the proteins, ezrin, radixin, and moesin.

We found the following sequence variations; Ala555Thr (G1663A in exon 13) and Thr950Lys (C2849A in exon 19) in two cases each, and one case with a 5pb deletion (del taaaa) in intron 18.

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(PMID = 16142420.001).

[ISSN] 1107-3756

[Journal-full-title] International journal of molecular medicine

[ISO-abbreviation] Int. J. Mol. Med.

[Language] eng

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

[Publication-country] Greece

[Chemical-registry-number] 0 / DNA, Neoplasm; 0 / EPB41L3 protein, human; 0 / Membrane Proteins; 0 / Microfilament Proteins; 0 / Tumor Suppressor Proteins

   

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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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[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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The INI1/SMARCB1 protein product (INI1), a component of a transcription complex, was recently implicated in the pathogenesis of schwannomas in two members of a single family with familial schwannomatosis.

To determine if this finding could be extended to all tumors arising in familial schwannomatosis, and how it compares with other multiple schwannoma syndromes [sporadic schwannomatosis and neurofibromatosis 2 (NF2)] as well as to sporadic, solitary schwannomas, we performed an immunohistochemistry analysis on 45 schwannomas from patients with multiple schwannoma syndromes and on 38 solitary, sporadic schwannomas from non-syndromic patients.

A mosaic pattern of INI1 expression was seen in 93% of tumors from familial schwannomatosis patients, 55% of tumors from sporadic schwannomatosis, 83% of NF2-associated tumors and only 5% of solitary, sporadic schwannomas.

These results confirm a role for INI1/SMARCB1 in multiple schwannoma syndromes and suggest that a different pathway of tumorigenesis occurs in solitary, sporadic tumors.

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[Cites] Oncogene. 2001 May 28;20(24):3067-75 [11420722.001]

[Cites] Neurology. 2003 Jun 24;60(12):1968-74 [12821741.001]

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(PMID = 18422762.001).

[ISSN] 1015-6305

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

[ISO-abbreviation] Brain Pathol.

[Language] ENG

[Grant] United States / NINDS NIH HHS / NS / NS024279-20A29010; United States / NINDS NIH HHS / NS / P01 NS024279-20A29010

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

[Publication-country] Switzerland

[Chemical-registry-number] 0 / Chromosomal Proteins, Non-Histone; 0 / DNA-Binding Proteins; 0 / Genetic Markers; 0 / Neurofibromin 2; 0 / SMARCB1 protein, human; 0 / Transcription Factors

[Other-IDs] NLM/ NIHMS114873; NLM/ PMC2743242

   

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The genetic loss of NF2 (neurofibromatosis type 2) leading to increased cell proliferation through a Ras-Rac-PAK pathway may represent a good test system to analyze this new PAK inhibitor.

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(PMID = 21173843.001).

[ISSN] 1757-594X

[Journal-full-title] F1000 biology reports

[ISO-abbreviation] F1000 Biol Rep

[Language] eng

[Publication-type] Journal Article

[Publication-country] England

[Other-IDs] NLM/ PMC2989626

   

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Ependymomas (EP) represent the third most frequent type of central nervous system (CNS) tumor of childhood, after astrocytomas and medulloblastomas.

The present objective was, for a sample of 27 children with intracranial EP and 7 with CPP, to describe and compare the methylation status of 19 genes (with current HUGO symbol, if any): p15INK4a (CDKN2B), p16INK4a and p14ARF (both CDKN2A), APC, RB1, RASSF1A (RASSF1), BLU (ZMYND10) FHIT, RARB, MGMT, DAPK (DAPK1), ECAD (CDH1), CASP8, TNFRSF10C, TNFRSF10D, FLIP (CFLAR), INI1 (SMARCB1), TIMP3, and NF2.

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(PMID = 16616114.001).

[ISSN] 0165-4608

[Journal-full-title] Cancer genetics and cytogenetics

[ISO-abbreviation] Cancer Genet. Cytogenet.

[Language] eng

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

[Publication-country] United States

[Chemical-registry-number] 0 / Apoptosis Regulatory Proteins; 0 / Membrane Glycoproteins; 0 / RASSF1 protein, human; 0 / TNF-Related Apoptosis-Inducing Ligand; 0 / TNFSF10 protein, human; 0 / Tumor Necrosis Factor-alpha; 0 / Tumor Suppressor Proteins

   

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[Title] Spinal tumors in neurofibromatosis-2: management considerations - a review.

Neurofibromatosis Type 2 (NF-2) is a distinct clinical entity, characterized by multiple intracranial and spinal tumors.

While bilateral vestibular schwannomas are the pathological hallmark of the disease, significant morbidity in NF-2 is attributable to the presence of both intramedullary and extramedullary spinal tumors.

With the advent of MRI as a screening modality, multiple, extensive spinal tumors in the NF-2 population are often seen, which may be clinically quiescent at the time of initial diagnosis.

All NF-2 patients should have routine screening with full spinal MRI at the time of diagnosis, regardless of symptoms.

[MeSH-major] Neurofibromatosis 2 / diagnosis. Neurofibromatosis 2 / therapy. Spinal Neoplasms / diagnosis. Spinal Neoplasms / therapy

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(PMID = 19101145.001).

[ISSN] 0967-5868

[Journal-full-title] Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia

[ISO-abbreviation] J Clin Neurosci

[Language] eng

[Publication-type] Journal Article; Review

[Publication-country] Scotland

[Number-of-references] 44

   

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[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; 0 / SMARCB1 protein, human; 0 / Transcription Factors

   

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BACKGROUND: The demographic evolution of Western society together with availability of modern imaging techniques leads to an increasing diagnosis of meningioma patients over 70 years of age.

DESIGN: Forty-three patients aged over 70 years were analyzed and matched in a retrospective study with a younger group of 89 patients according to tumour size, histology, symptoms, recurrence and presence of neurofibromatosis II.

[MeSH-minor] Adult. Age Distribution. Aged. Aged, 80 and over. Humans. Middle Aged. Morbidity. Neoplasm Recurrence, Local / mortality. Neurofibromatosis 2 / mortality. Neurofibromatosis 2 / surgery. Patient Selection. Postoperative Complications / mortality. Quality of Life. Retrospective Studies

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(PMID = 17258130.001).

[ISSN] 0967-5868

[Journal-full-title] Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia

[ISO-abbreviation] J Clin Neurosci

[Language] eng

[Publication-type] Journal Article

[Publication-country] Scotland

   

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A 14-year-old boy without any stigmata of neurofibromatosis type 2 presented intractable complex partial and generalized seizures since the age of 12 years.

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[Copyright] Copyright 2006 S. Karger AG, Basel.

(PMID = 16902347.001).

[ISSN] 1016-2291

[Journal-full-title] Pediatric neurosurgery

[ISO-abbreviation] Pediatr Neurosurg

[Language] eng

[Publication-type] Case Reports; Journal Article

[Publication-country] Switzerland

   

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Tumors of the nervous system most often occur in both children and adults as sporadic events with no family history of the disease, but they are also among the clinical manifestations of a significant number of familial cancer syndromes, including familial retinoblastoma, neurofibromatosis 1 and 2, tuberous sclerosis, and Cowden, Turcot, Li-Fraumeni and nevoid basal cell carcinoma (Gorlin) syndromes.

These genes include RB1, NF1, NF2, TSC1, TSC2, TP53, PTEN, APC, hMLH1, hPSM2, and PTCH, most of which function as tumor suppressor genes.

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(PMID = 17019046.001).

[ISSN] 1349-9157

[Journal-full-title] Journal of radiation research

[ISO-abbreviation] J. Radiat. Res.

[Language] eng

[Publication-type] Journal Article; Review

[Publication-country] Japan

[Chemical-registry-number] 0 / DNA, Neoplasm

[Number-of-references] 61

   

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[Title] Correlation of nonsense and frameshift mutations with severity of retinal abnormalities in neurofibromatosis 2.

BACKGROUND: Neurofibromatosis 2 (NF2) is an autosomal dominant disease that is characterized by nervous system tumors and ocular abnormalities.

OBJECTIVE: To investigate genotype-phenotype correlations demonstrated for NF2-associated nervous system tumors, cataracts, and retinal lesions.

METHODS: Forty-eight patients with NF2 from a tertiary neurological referral center underwent screening for constitutional NF2 mutations with multiple screening methods.

CONCLUSIONS: To our knowledge, this is the first genetic, clinical, and angiographic characterization of retinal abnormalities in NF2.

Clinical Relevance Retinal abnormalities, which can be revealed by means of fluorescein angiography, are more common in patients with NF2 who have nonsense or frameshift mutations.

[MeSH-major] Fluorescein Angiography. Frameshift Mutation. Genes, Neurofibromatosis 2. Neurofibromatosis 2 / epidemiology. Neurofibromatosis 2 / genetics. Retinal Diseases / epidemiology. Retinal Diseases / genetics

[MeSH-minor] Adolescent. Adult. Age of Onset. Analysis of Variance. Cataract / diagnosis. Cataract / genetics. Causality. Child. Codon, Nonsense. Cohort Studies. Comorbidity. Confidence Intervals. Female. Genetic Predisposition to Disease. Genetic Testing. Genotype. Humans. Logistic Models. Male. Middle Aged. Odds Ratio. Phenotype. Severity of Illness Index

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(PMID = 18852415.001).

[ISSN] 1538-3601

[Journal-full-title] Archives of ophthalmology (Chicago, Ill. : 1960)

[ISO-abbreviation] Arch. Ophthalmol.

[Language] eng

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

[Publication-country] United States

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

   

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[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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[Title] Mutational spectrum of the NF2 gene: a meta-analysis of 12 years of research and diagnostic laboratory findings.

The NF2 tumor suppressor gene on chromosome 22 is a member of the protein 4.1 family of cytoskeletal elements.

A number of single- and multiple-tumor phenotypes have been linked to alterations of NF2 since its characterization in 1993.

We present a meta-analysis of 967 constitutional and somatic NF2 alterations from 93 published reports, along with 59 additional unpublished events identified in our laboratory and 115 alterations identified in clinical samples submitted to the Massachusetts General Hospital (MGH) Neurogenetics DNA Diagnostic Laboratory.

There was no statistically significant difference in mutation type or exon distribution between published constitutional events and those found by the clinical laboratory.

[MeSH-major] Genes, Neurofibromatosis 2. Molecular Diagnostic Techniques / methods. Mutation

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[Copyright] Published 2006 Wiley-Liss, Inc.

(PMID = 16983642.001).

[ISSN] 1098-1004

[Journal-full-title] Human mutation

[ISO-abbreviation] Hum. Mutat.

[Language] eng

[Grant] United States / NINDS NIH HHS / NS / 1 R01 NS40527

[Publication-type] Journal Article; Meta-Analysis; Research Support, N.I.H., Extramural

[Publication-country] United States

   

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[Title] Pathogenesis of vestibular schwannoma in ring chromosome 22.

Clinical features of neurofibromatosis type 1 and 2 as well as different tumour types have been reported in patients with ring chromosome 22.

At the age of 20 years she was diagnosed with a unilateral vestibular schwannoma.

Tumour cells were analyzed by karyotyping, array CGH and NF2 mutation analysis.

Genetic analysis of vestibular schwannoma tissue revealed loss of the ring chromosome 22 and a somatic second hit in the NF2 gene on the remaining chromosome 22.

CONCLUSION: We conclude that tumours can arise by the combination of loss of the ring chromosome and a pathogenic NF2 mutation on the remaining chromosome 22 in patients with ring chromosome 22.

Our findings indicate that patients with a ring 22 should be monitored for NF2-related tumours starting in adolescence.

[MeSH-major] Chromosomes, Human, Pair 22. Neuroma, Acoustic / genetics. Ring Chromosomes

[MeSH-minor] Adult. Female. Genes, Neurofibromatosis 1. Genes, Neurofibromatosis 2. Humans. In Situ Hybridization, Fluorescence. Karyotyping. Magnetic Resonance Imaging. Mutation. Oligonucleotide Array Sequence Analysis. Phenotype. Sequence Analysis, DNA

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(PMID = 19772601.001).

[ISSN] 1471-2350

[Journal-full-title] BMC medical genetics

[ISO-abbreviation] BMC Med. Genet.

[Language] eng

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

[Publication-country] England

[Other-IDs] NLM/ PMC2758865

   

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The neurofibromatosis-2 (NF2) tumor suppressor protein, merlin or schwannomin, inhibits cell proliferation by modulating the growth activities of its binding partners, including the cell surface glycoprotein CD44, membrane-cytoskeleton linker protein ezrin and PIKE (PI 3-kinase enhancer) GTPase, etc.

This finding demonstrates a negative feed-back loop from merlin/PIKE-L/PI 3-kinase to Akt in tumors- The proliferation repressive activity of merlin is also partially regulated by S518 phosphorylation- Thus, Akt-mediated merlin T230/S315 phosphorylation, combined with S518 phosphorylation by PAK and PKA, provides new insight into abrogating merlin function in the absence of merlin mutational inactivation.

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(PMID = 19262146.001).

[ISSN] 1933-6926

[Journal-full-title] Cell adhesion & migration

[ISO-abbreviation] Cell Adh Migr

[Language] eng

[Grant] United States / NCI NIH HHS / CA / R01 CA117872

[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 / Antigens, CD44; 0 / CD44 protein, human; 0 / GTPase-Activating Proteins; 0 / Neurofibromin 2; EC 2.7.1.- / Phosphatidylinositol 3-Kinases; EC 2.7.11.1 / Proto-Oncogene Proteins c-akt; EC 2.7.11.1 / p21-Activated Kinases; EC 2.7.11.11 / Cyclic AMP-Dependent Protein Kinases; EC 3.6.1.- / AGAP2 protein, human; EC 3.6.1.- / GTP-Binding Proteins

[Number-of-references] 21

[Other-IDs] NLM/ PMC2634106

   

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METHODS: Between 1991 and 2007, 29 patients (12 male and 17 female, median age at diagnosis 13.6 years) with primary spinal cord ependymoma (myxopapillary ependymoma WHO Grade I, II, and III tumors in 6, 17, and 6 patients, respectively) were identified.

Four patients had neurofibromatosis Type 2.

Seven patients (24.1%) developed progressive disease or relapse, 2 after gross-total resection (GTR) and 5 after incomplete resection or biopsy.

One patient with anaplastic ependymoma (WHO Grade III) died 65 months after diagnosis of disease progression.

[MeSH-minor] Adolescent. Austria. Biopsy. Chemotherapy, Adjuvant. Child. Combined Modality Therapy. Disability Evaluation. Disease Progression. Female. Follow-Up Studies. Germany. Humans. Male. Neurofibromatosis 2 / diagnosis. Neurofibromatosis 2 / drug therapy. Neurofibromatosis 2 / pathology. Neurofibromatosis 2 / radiotherapy. Neurofibromatosis 2 / surgery. Postoperative Complications / diagnosis. Postoperative Complications / mortality. Prospective Studies. Radiotherapy, Adjuvant. Registries. Survival Rate

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(PMID = 20672934.001).

[ISSN] 1933-0715

[Journal-full-title] Journal of neurosurgery. Pediatrics

[ISO-abbreviation] J Neurosurg Pediatr

[Language] eng

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

[Publication-country] United States

   

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[Title] Sporadic unilateral vestibular schwannoma in the pediatric population. Clinical article.

OBJECT: Vestibular schwannomas (VSs) are rare in the pediatric population.

Most often, these lesions manifest as a bilateral disease process in the setting of neurofibromatosis Type 2.

Clinical outcomes were reviewed with emphasis on facial nerve function and follow-up for signs and symptoms of a heritable disorder.

The average tumor size was 4.57 cm, with an average duration of symptoms prior to definitive diagnosis of 31.2 months.

At a follow-up average of 6.3 years (range 1-12 years), 100% of patients demonstrated good facial function (House-Brackmann Grade I or II).

No patient in this cohort demonstrated symptoms, objective signs, or genetic analysis indicating the presence of neurofibromatosis Type 2.

CONCLUSIONS: Diagnosis and management of sporadic, unilateral VSs in children is complicated by clinical presentations and surgical challenges unique from their adult counterparts.

[MeSH-major] Facial Nerve / physiopathology. Neuroma, Acoustic / surgery

[MeSH-minor] Adolescent. Child. Cohort Studies. Ear, Inner. Female. Humans. Male. Neurofibromatosis 2 / pathology. Recovery of Function. Retrospective Studies. Treatment Outcome

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(PMID = 19645545.001).

[ISSN] 1933-0707

[Journal-full-title] Journal of neurosurgery. Pediatrics

[ISO-abbreviation] J Neurosurg Pediatr

[Language] eng

[Publication-type] Journal Article

[Publication-country] United States

   

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

[Title] Bilateral auditory brainstem implantation in a patient with neurofibromatosis type II.

[MeSH-major] Auditory Brain Stem Implantation / methods. Neurofibromatosis 2 / surgery. Neuroma, Acoustic / surgery. Neurosurgical Procedures / methods

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(PMID = 21756589.001).

[ISSN] 1754-7628

[Journal-full-title] Cochlear implants international

[ISO-abbreviation] Cochlear Implants Int

[Language] eng

[Publication-type] Case Reports; Journal Article

[Publication-country] England

   

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[Title] Hearing preservation surgery for neurofibromatosis Type 2-related vestibular schwannoma in pediatric patients.

OBJECT: The authors reviewed the proportion of pediatric patients with neurofibromatosis Type 2 (NF2) in whom hearing was preserved after middle fossa resection of vestibular schwannoma (VS).

METHODS: In this retrospective chart review the authors examined the cases of 35 children with NF2 who had undergone middle fossa resection (47 surgeries) between 1992 and 2004 in a neurotological tertiary care center.

Facial nerve function was good (House-Brackmann Grades I or II) in 81% of the patients.

Twelve patients had bilateral middle fossa resections; in nine (75%) of these patients hearing was maintained postoperatively in both ears.

CONCLUSIONS: More than half of the children with NF2 in the authors' cohort experienced hearing preservation after middle fossa resection was performed for vs. The authors recommend this approach for preserving hearing in children with NF2.

[MeSH-major] Facial Nerve / physiopathology. Hearing / physiology. Neurofibromatosis 2 / surgery. Neuroma, Acoustic / surgery

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(PMID = 17465357.001).

[ISSN] 0022-3085

[Journal-full-title] Journal of neurosurgery

[ISO-abbreviation] J. Neurosurg.

[Language] eng

[Publication-type] Journal Article

[Publication-country] United States

   

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The neurofibromatosis 2 (NF2) tumor suppressor protein, schwannomin or merlin, is commonly lost upon NF2 gene mutation in benign human brain tumors.

Consequently, eIF3c appears to be involved in NF2 pathogenesis and deserves to be investigated as a prognostic marker for NF2 and target for treatment of NF2 patient tumors.

[MeSH-minor] Adult. Cell Line, Transformed. Cell Proliferation. Fluorescent Antibody Technique. Gene Expression Regulation, Neoplastic. Humans. Immunoprecipitation. Meningioma / metabolism. Meningioma / pathology. Models, Biological. Neurofibromatoses / metabolism. Protein Structure, Tertiary. Recombinant Proteins / genetics. Recombinant Proteins / metabolism. Tumor Cells, Cultured

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(PMID = 16497727.001).

[ISSN] 0964-6906

[Journal-full-title] Human molecular genetics

[ISO-abbreviation] Hum. Mol. Genet.

[Language] eng

[Grant] United States / NINDS NIH HHS / NS / KO8NS001428; United States / NINDS NIH HHS / NS / R01NS037883

[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 / Eukaryotic Initiation Factor-3; 0 / Neurofibromin 2; 0 / Recombinant Proteins

   

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[Title] Stereotactic radiotherapy for vestibular schwannomas: favorable outcome with minimal toxicity.

OBJECTIVE: To determine the outcome and toxicity in patients with vestibular schwannomas treated with conventionally fractionated stereotactic radiotherapy (SRT) and to identify prognostic factors that are predictive of outcome.

METHODS: Between 1992 and 2001, 70 patients with vestibular schwannomas were treated with linear accelerator-based SRT in our institutions.

Eleven patients had neurofibromatosis Type II (NF2).

There was no difference in tumor control and cranial nerve function preservation rates seen in NF2 patients compared with non-NF2 patients.

[MeSH-major] Dose Fractionation. Neuroma, Acoustic / surgery. Radiosurgery / methods. Stereotaxic Techniques. Treatment Outcome

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(PMID = 15987541.001).

[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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BACKGROUND/AIMS: The reactive oxygen species from thioacetamide (TAA) induces rat liver cirrhosis that resembles the human disease, and it can serve as a suitable animal model for studying human liver cirrhosis.

In contrast, the expression level of the proteins did not show a significant change at 9 weeks, but this increased to 3-fold at 30 weeks for carbonic anhydrase VII, ras related protein Rab 6, Annexin A2, neurofibromatosis type 2 and aldehyde dehydrogenase.

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(PMID = 16565610.001).

[ISSN] 1738-222X

[Journal-full-title] The Korean journal of hepatology

[ISO-abbreviation] Korean J Hepatol

[Language] kor

[Publication-type] English Abstract; Journal Article

[Publication-country] Korea (South)

[Chemical-registry-number] 0 / Proteins; 075T165X8M / Thioacetamide

   

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Magicin, a protein that we isolated earlier as an interactor of the neurofibromatosis 2 protein merlin, was independently identified as MED28, a subunit of the mammalian Mediator complex.

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(PMID = 17848560.001).

[ISSN] 0021-9258

[Journal-full-title] The Journal of biological chemistry

[ISO-abbreviation] J. Biol. Chem.

[Language] eng

[Grant] United States / NINDS NIH HHS / NS / NS24279; United States / NINDS NIH HHS / NS / NS45776

[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 / Cytoskeletal Proteins; 0 / Intracellular Signaling Peptides and Proteins; 0 / MED28 protein, human; 0 / Mediator Complex