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[Title] A rare retroperitoneal schwannoma in a patient with neurofibromatosis Type 2.

Neurofibromatosis Type 2 (NF2) is a dominantly inherited tumour-prone disorder, characterized by the development of multiple schwannomas, meningiomas and ependymomas.

Vestibular schwannoma (VS) is the hallmark of NF2.

We present the case of a large retroperitoneal schwannoma in a patient with NF2.

Brain, orbits, cervical, thoracic and lumbar MRI revealed bilateral VS, multiple meningiomas as well as multiple schwannomas and ependymomas in the cervical, thoracic and lumbar spine.

The retroperitoneal mass represents a schwannoma probably derived from an intercostal nerve.

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(PMID = 28657039.001).

[ISSN] 1753-0784

[Journal-full-title] NDT plus

[ISO-abbreviation] NDT Plus

[Language] eng

[Publication-type] Journal Article

[Publication-country] England

[Keywords] NOTNLM ; meningioma / neurofibromatosis Type 2 / retroperitoneal / schwannoma

   

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

[Title] Overexpression of ezrin inactivates NF2 tumor suppressor in glioblastoma.

We report that the cytoskeletal-related proteins neurofibromatosis type 2 (NF2) and ezrin have opposite yet interdependent activities in glioblastoma growth.

We show that NF2 is absent in approximately one-third of glioblastoma cell lines and tumors, and that it suppresses growth when expressed in cells.

Although ezrin overexpression was previously observed in glioblastoma, we show here that ezrin enhanced cell proliferation and anchorage-independent growth but only in cells expressing NF2.

Ezrin interacted and delocalized NF2 from the cortical compartment releasing its inhibition on Rac1.

By using swap NF2-ezrin molecules, we identified that the opposite effects on cell growth of NF2 and ezrin depend on their amino-terminal FERM domain.

The subcellular cortical localization appeared important for NF2 suppressive activity.

In contrast, the ability of ezrin to enhance growth or complex NF2 did not depend on the molecular conformation or subcellular localization.

In conclusion, these studies show 2 mechanisms for NF2 inactivation in glioblastoma: (i) decreased protein expression and (ii) increasing dosages of ezrin that disable NF2 by intermolecular association and aberrant intracellular recruitment.

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(PMID = 20156804.001).

[ISSN] 1523-5866

[Journal-full-title] Neuro-oncology

[ISO-abbreviation] Neuro-oncology

[Language] ENG

[Grant] United States / NCI NIH HHS / CA / NCI-CA107201; United States / NCI NIH HHS / CA / NCI-CA16672

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

[Publication-country] England

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

[Other-IDs] NLM/ PMC2940645

   

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

[Title] Evolution and origin of merlin, the product of the Neurofibromatosis type 2 (NF2) tumor-suppressor gene.

BACKGROUND: Merlin, the product of the Neurofibromatosis type 2 (NF2) tumor suppressor gene, belongs to the ezrin-radixin-moesin (ERM) subgroup of the protein 4.1 superfamily, which links cell surface glycoproteins to the actin cytoskeleton.

Secondary structure prediction reveals the presence of a conserved alpha-helical domain in the central to C-terminal region of the merlin proteins of various species.

[MeSH-minor] Actins / chemistry. Actins / metabolism. Amino Acid Sequence. Animals. Binding Sites. Ciona intestinalis. Computational Biology. Drosophila. Exons. Fishes. Genome. Humans. Introns. Molecular Sequence Data. Multigene Family. Neurofibromatosis 2. Phosphorylation. Phylogeny. Protein Conformation. Protein Structure, Secondary. Protein Structure, Tertiary. Sequence Homology, Amino Acid. Serine / chemistry

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(PMID = 16324214.001).

[ISSN] 1471-2148

[Journal-full-title] BMC evolutionary biology

[ISO-abbreviation] BMC Evol. Biol.

[Language] eng

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

[Publication-country] England

[Chemical-registry-number] 0 / Actins; 0 / Neurofibromin 2; 452VLY9402 / Serine

[Other-IDs] NLM/ PMC1315344

   

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

[Title] The location of constitutional neurofibromatosis 2 (NF2) splice site mutations is associated with the severity of NF2.

Neurofibromatosis 2 (NF2) patients with constitutional splice site NF2 mutations have greater variability in disease severity than NF2 patients with other types of mutations; the cause of this variability is unknown.

We evaluated genotype-phenotype correlations, with particular focus on the location of splice site mutations, using mutation and clinical information on 831 patients from 528 NF2 families with identified constitutional NF2 mutations.

The clinical characteristics examined were age at onset of symptoms of NF2 and number of intracranial meningiomas, which are the primary indices of the severity of NF2.

People with splice site mutations in exons 1-5 had more severe disease than those with splice site mutations in exons 11-15.

This result is compatible with studies showing that exons 2 and 3 are required for self-association of the amino terminal of the NF2 protein in vitro, and that deletions of exons 2 and 3 in transgenic and knockout mouse models of NF2 cause a high prevalence of Schwann cell derived tumours.

[MeSH-major] Alternative Splicing / genetics. Mutation / genetics. Neurofibromatosis 2 / genetics. Neurofibromin 2 / genetics. Severity of Illness Index

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(PMID = 15994874.001).

[ISSN] 1468-6244

[Journal-full-title] Journal of medical genetics

[ISO-abbreviation] J. Med. Genet.

[Language] eng

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

[Publication-country] England

[Chemical-registry-number] 0 / Neurofibromin 2

[Number-of-references] 54

[Other-IDs] NLM/ PMC1736092

   

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

[Title] Sensitive detection of deletions of one or more exons in the neurofibromatosis type 2 (NF2) gene by multiplexed gene dosage polymerase chain reaction.

Mutation detection in the neurofibromatosis type 2 (NF2) gene is challenging because when combining mutation detection methods such as single-strand conformational polymorphism and heteroduplex analysis, denaturing gradient gel electrophoresis, and direct sequencing of aberrant polymerase chain reaction (PCR) fragments only 30 to 60% of the constitutional mutations are detected.

The one type of mutation often missed corresponds to deletions encompassing one or few exons.

To detect this type we have developed a swift and reliable method.

We perform a gene dosage analysis with two fluorescent multiplex PCR assays that amplify 15 of the 17 NF2 exons.

We tested the reliability of this method with DNA from eight NF2 patients with known heterozygous NF2 deletions, eight controls and four unknown NF2 patients.

In one NF2 patient with previously unknown mutation and a severe phenotype we found the gene dosage of two exons reduced by 50% indicating a deletion of these two exons on one allele.

This finding was validated by reverse transcriptase-PCR on fibroblast and schwannoma cell cultures of this patient and cDNA sequencing.

[MeSH-major] DNA Mutational Analysis / methods. Genes, Neurofibromatosis 2. Neurofibromatosis 2 / diagnosis. Sequence Deletion

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(PMID = 15681480.001).

[ISSN] 1525-1578

[Journal-full-title] The Journal of molecular diagnostics : JMD

[ISO-abbreviation] J Mol Diagn

[Language] eng

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

[Publication-country] United States

[Chemical-registry-number] 0 / Neurofibromin 2

[Other-IDs] NLM/ PMC1867500

   

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

[Title] Comprehensive genetic and epigenetic analysis of sporadic meningioma for macro-mutations on 22q and micro-mutations within the NF2 locus.

The neurofibromatosis type 2 (NF2) tumor suppressor is the only gene known to be frequently involved in early development of meningiomas.

A large set of sporadic meningiomas were analyzed for presence of 22q macro-mutations using array-CGH in order to identify tumors carrying gene dosage aberrations not encompassing NF2.

The NF2 locus was also comprehensively studied for point mutations within coding and conserved non-coding sequences.

Furthermore, CpG methylation within the NF2 promoter region was thoroughly analyzed.

RESULTS: Monosomy 22 was the predominant finding, detected in 47% of meningiomas.

We defined at least two minimal overlapping regions outside the NF2 locus that are small enough (approximately 550 kb and approximately 250 kb) to allow analysis of a limited number of candidate genes.

Bialleinactivationo the NF2 gne was detected in 36% of meningiomas.

Among the monosomy 22 cases, no additional NF2 mutations could be identified in 35% (17 out of 49) of tumors.

Furthermore, the majority of tumors (9 out of 12) with interstitial/terminal deletions did not have any detectable NF2 mutations.

Methylation within the NF2 promoter region was only identified at a single CpG site in one tumor sample.

There is a higher frequency of biallelic NF2 inactivation in fibroblastic (52%) compared to meningothelial (18%) tumors.

Thus, inactivation of NF2, often combined with the presence of macro-mutation on 22q, is likely not as important for the development of the meningothelial subtype, as opposed to the fibroblastic form.

Analysis of 40 CpG sites distributed within 750 bp of the promoter region suggests that NF2 promoter methylation does not play a major role in meningioma development.

[MeSH-major] Chromosomes, Human, Pair 22. Epigenesis, Genetic. Genes, Neurofibromatosis 2. Meningeal Neoplasms / genetics. Meningioma / genetics. Mutation

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(PMID = 17222329.001).

[ISSN] 1471-2164

[Journal-full-title] BMC genomics

[ISO-abbreviation] BMC Genomics

[Language] eng

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

[Publication-country] England

[Other-IDs] NLM/ PMC1781436

   

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

[Title] Contact-dependent inhibition of EGFR signaling by Nf2/Merlin.

The neurofibromatosis type 2 (NF2) tumor suppressor, Merlin, is a membrane/cytoskeleton-associated protein that mediates contact-dependent inhibition of proliferation.

In confluent Nf2(-/-) cells, EGFR activation persists, driving continued proliferation that is halted by specific EGFR inhibitors.

These studies define a new mechanism of tumor suppression, provide mechanistic insight into the poorly understood phenomenon of contact-dependent inhibition of proliferation, and suggest a therapeutic strategy for NF2-mutant tumors.

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(PMID = 17548515.001).

[ISSN] 0021-9525

[Journal-full-title] The Journal of cell biology

[ISO-abbreviation] J. Cell Biol.

[Language] eng

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

[Publication-country] United States

[Chemical-registry-number] 0 / Neurofibromin 2; 0 / Phosphoproteins; 0 / Sodium-Hydrogen Antiporter; 0 / sodium-hydrogen exchanger regulatory factor; EC 2.7.10.1 / Receptor, Epidermal Growth Factor

[Other-IDs] NLM/ PMC2064288

   

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

[Title] Outpatient gamma knife surgery for vestibular schwannoma: definition of the therapeutic profile based on a 10-year experience.

OBJECT: The purpose of the study was to define the therapeutic profile of outpatient gamma knife surgery (GKS) for vestibular schwannoma (VS) by using sequential tumor volumetry to quantify changes following treatment.

Thirty-seven patients (33%) had undergone surgery before GKS and 10 (9%) had neurofibromatosis Type 2 (NF2).

Recurrence was significantly associated with NF2 (p < 0.003) and the reduced dose (p < 0.03) delivered to these tumors.

Trigeminal neuropathy occurred in 13 patients, and this was correlated with the VS volume (p < 0.02).

The risk of hearing loss was correlated with age and transient tumor swelling (p < 0.05) but not with dose parameters or NF2.

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(PMID = 28306422.001).

[ISSN] 1933-0693

[Journal-full-title] Journal of neurosurgery

[ISO-abbreviation] J. Neurosurg.

[Language] eng

[Publication-type] Journal Article

[Publication-country] United States

[Keywords] NOTNLM ; gamma knife surgery / tumor volumetry / vestibular schwannoma

   

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

One had neurofibromatosis Type 2 with multiple tumors, one of which was parasagittal.

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(PMID = 28306444.001).

[ISSN] 1933-0693

[Journal-full-title] Journal of neurosurgery

[ISO-abbreviation] J. Neurosurg.

[Language] eng

[Publication-type] Journal Article

[Publication-country] United States

[Keywords] NOTNLM ; complications / dexamethasone / gamma knife surgery / meningioma

   

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

[Title] Low-dose radiosurgery for large vestibular schwannomas: long-term results of functional preservation.

OBJECT: The author conducted a study to assess the long-term results obtained in patients who underwent GKS for large vestibular schwannomas (> cochlear nerve functions were evaluated.

METHODS: Twenty consecutive large tumors in 18 patients (including two cases of neurofibromatosus Type 2 [NF2]) were followed for more than 6 years.

Four patients (including one with NF2) died during the follow-up period of other diseases or by accident.

CONCLUSIONS: Gamma knife surgery seems to have a place in the low-dose treatment of selected large vestibular schwannoma in patients with a reasonable chance of retaining facial function and pretreatment hearing level.

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(PMID = 28306427.001).

[ISSN] 1933-0693

[Journal-full-title] Journal of neurosurgery

[ISO-abbreviation] J. Neurosurg.

[Language] eng

[Publication-type] Journal Article

[Publication-country] United States

[Keywords] NOTNLM ; facial function / gamma knife surgery / outcome / vestibular schwannoma

   

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

[Title] [NF2: ocular, neural and genetic manifestations].

[Transliterated title] NF2: Okuläre, neurale und genetische Befunde.

Neurofibromatosis 2 is an autosomal-dominant disease, which is characterized by vestibular schwannomas, cataract, retinal hamartomas as well as tumors of the peripheral and central nerve system, demonstrating a variety of expression.

The ophthalmologist plays an important role in making the diagnosis, as several ocular manifestations may be shown during childhood, before tumors of the central nerve system become symptomatic.

An early diagnosis of NF 2 may prevent deafness by early surgical intervention.

Neuropathy may lead to vestibular disturbances and loss of muscle control.

The human NF2 gene was cloned from chromosome 22 in 1993.

Geno-phenotype correlations allow some predictions of the course of the disease to be made.

[MeSH-major] Central Nervous System Neoplasms / diagnosis. Hamartoma / diagnosis. Neurofibromatosis 2 / diagnosis. Retinal Diseases / diagnosis

[MeSH-minor] Adolescent. Adult. Age Factors. Child. Cranial Nerve Diseases / diagnosis. Cranial Nerve Diseases / genetics. DNA Mutational Analysis. Diagnosis, Differential. Genotype. Humans. Neuroma, Acoustic / diagnosis. Neuroma, Acoustic / genetics. Patient Care Team. Phenotype. Referral and Consultation

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(PMID = 15844040.001).

[ISSN] 0023-2165

[Journal-full-title] Klinische Monatsblätter für Augenheilkunde

[ISO-abbreviation] Klin Monbl Augenheilkd

[Language] ger

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

[Publication-country] Germany

[Number-of-references] 34

   

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

[Title] [Neurofibromatosis type 2 (NF2). Study of 7 patients].

[Transliterated title] Neurofibromatosis tipo 2 (NF2). Estudio de 7 pacientes.

OBJECTIVE: The aim of this paper is to present the cases of 7 young children and young adult with type 2 neurofibromatosis (NF2).

In 5 patients, the symptoms because around the time of the diagnosis while 2 patients, who had no previous symptoms, were diagnosed by MRI after undergoing the test because a parent had been diagnosed of NF2 by MRI.

RESULTS: All 7 patients had bilateral vestibular schwannomas (VS) and only two had no associated intracranial and/or spinal tumors.

Deafness was the common sequel in all operated cases, associated with permanent bilateral facial paralysis in one and unilateral facial parenthesis in another.

CONCLUSION: A comparison of our series of NF1 and NF2 cases shows that the ratio of NF2:NF1 in childhood is approximately 1:100, and that the clinical features of NF2 are considerably more severe than in NF1.

[MeSH-major] Neurofibromatosis 2 / pathology

[MeSH-minor] Adolescent. Adult. Child. Child, Preschool. Female. Humans. Magnetic Resonance Imaging. Male. Neurofibromatosis 1 / diagnosis. Neurofibromatosis 1 / genetics. Neurofibromatosis 1 / pathology. Young Adult

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(PMID = 19921555.001).

[ISSN] 0213-4853

[Journal-full-title] Neurología (Barcelona, Spain)

[ISO-abbreviation] Neurologia

[Language] spa

[Publication-type] English Abstract; Journal Article

[Publication-country] Spain

   

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

[Title] [Phenotype-genotype study in 154 French NF2 mutation carriers].

[Transliterated title] Analyse phénotypique de 154 patients porteurs d'une mutation constitutionnelle du gène NF2.

INTRODUCTION: Germline mutations in the NF2 gene are responsible for 80 p.cent of neurofibromatosis type 2 typical cases.

To assess whether the phenotypic variability of neurofibromatosis 2 could be linked to genotype, clinical data of 154 patients whose NF2 germline alteration had been identified in our laboratory have been collected.

RESULTS: In French patients, type of mutation was correlated neither with patients' sex, nor with disease occurrence mode (de novo or inherited mutation).

Disease associated with missense mutations occurred later, with a less severe symptomatology.

Patients with nonsense or frameshift mutations were more frequently affected with meningiomas and spinal tumours, in addition to VIII nerve schwannomas, an observation that underlies the genetic determination of the number and type of NF2-related tumours.

CONCLUSION: Results from the literature as well as from our study tend to show that only few correlations exist between genotype and phenotype in the NF2 disease.

Therefore, NF2 gene screening keeps its indications in both typical and moderate forms of the disease.

Mutations are responsible of 80 p.cent of typical forms; in moderate forms, identification of a missense mutation seems linked to a lower disease evolution.

Finally, in a small number of cases, the NF2 gene appears to be implicated in clinical forms different from those defined by NIH and it might be of interest to enlarge the clinical features suggestive of the disease.

[MeSH-major] Genes, Neurofibromatosis 2 / physiology. Heterozygote. Neurofibromatosis 2 / genetics. Neurofibromatosis 2 / physiopathology

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(PMID = 18033041.001).

[ISSN] 0035-3787

[Journal-full-title] Revue neurologique

[ISO-abbreviation] Rev. Neurol. (Paris)

[Language] fre

[Publication-type] English Abstract; Journal Article

[Publication-country] France

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

   

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

[Title] The neurofibromatoses. Part 2: NF2 and schwannomatosis.

The neurofibromatoses, including neurofibromatosis 1 (NF1), neurofibromatosis 2 (NF2), and schwannomatosis, comprise a group of genetically distinct disorders of the nervous system that are unified by the predisposition to nerve sheath tumors.

All 3 types of NF have tumor manifestations (consistent with tumor-suppressor status) and nontumor manifestations.

In the second part of this 2-part series, the manifestations of NF2 and schwannomatosis are reviewed.

NF2 is characterized by bilateral vestibular schwannomas, meningiomas, ependymomas, cataracts, and epiretinal membranes.

The combination of complete hearing loss from vestibular schwannomas and blindness from bifacial weakness is a devastating potential outcome of NF2.

Recently, germline alterations in the SMARCB1/INI1 gene have been implicated in both familial and sporadic forms of this disorder.

Neurologists play an important role in the diagnosis and management of the neurofibromatoses.

[MeSH-major] Cranial Nerves / pathology. Neurilemmoma / pathology. Neurilemmoma / physiopathology. Neurofibromatosis 2 / pathology. Neurofibromatosis 2 / physiopathology. Spinal Nerves / pathology

[MeSH-minor] Blindness / etiology. Blindness / physiopathology. Genetic Predisposition to Disease / genetics. Humans. Meningeal Neoplasms / genetics. Meningeal Neoplasms / pathology. Meningeal Neoplasms / physiopathology. Neuroma, Acoustic / genetics. Neuroma, Acoustic / pathology. Neuroma, Acoustic / physiopathology. Spinal Cord Neoplasms / genetics. Spinal Cord Neoplasms / pathology. Spinal Cord Neoplasms / physiopathology

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(PMID = 19898272.001).

[ISSN] 1949-4378

[Journal-full-title] Reviews in neurological diseases

[ISO-abbreviation] Rev Neurol Dis

[Language] eng

[Publication-type] Journal Article; Review

[Publication-country] United States

[Number-of-references] 34

   

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

[Title] CpG island hypermethylation of the neurofibromatosis type 2 (NF2) gene is rare in sporadic vestibular schwannomas.

AIMS: Loss of both wild-type copies of the neurofibromatosis type 2 (NF2) gene is found in both sporadic and neurofibromatosis type 2-associated vestibular schwannomas (VS).

Previous studies have identified a subset of VS with no loss or mutation of NF2.

We hypothesized that methylation of NF2 resulting in gene silencing may play a role in such tumours.

The NF2 genes were sequenced and methylation of NF2 examined by pyrosequencing.

Twelve tumours had NF2 mutations.

Eight tumours had complete loss of wild-type NF2, four had one mutated and one wild-type allele, 11 had only one wild-type allele and 17 showed no abnormalities.

CONCLUSIONS: This study shows that a significant proportion of sporadic VS (>40%) have unmethylated wild-type NF2 genes.

[MeSH-major] CpG Islands / genetics. DNA Methylation / genetics. Genes, Neurofibromatosis 2. Neuroma, Acoustic / genetics

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[Copyright] © 2010 The Authors. Neuropathology and Applied Neurobiology © 2010 British Neuropathological Society.

(PMID = 20831745.001).

[ISSN] 1365-2990

[Journal-full-title] Neuropathology and applied neurobiology

[ISO-abbreviation] Neuropathol. Appl. Neurobiol.

[Language] eng

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

[Publication-country] England

   

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

[Title] Role of NF2 haploinsufficiency in NF2-associated polyneuropathy.

Neurofibromatosis 2 (NF2) is a hereditary tumor disease characterized by bilateral vestibular schwannomas.

Polyneuropathy seems to occur quite frequently in NF2 and in most cases, the etiology of this neuropathy is unclear, especially when the neuropathy is symmetric.

NF2 is believed to follow the two-hit hypothesis.

The second hit most frequently is a loss of the NF2 locus, often the entire chromosome 22.

We set out to investigate the underlying genetics in peripheral nerve of NF2 patients with polyneuropathy.

We identified NF2 patients with polyneuropathy in which we could detect the germline mutation and analyzed NF2 gene dosage in archived nerve biopsies from these patients using a newly developed method.

We observed merlin haploinsufficiency in peripheral nerves of two different patients with NF2-related polyneuropathy.

This finding was further supported by showing that approximately 50% merlin expression in a cell line using shRNA results in altered gene expression as previously shown in schwannomas.

Thus, we suggest that reduced merlin gene dosage is relevant in NF2-associated polyneuropathy.

[MeSH-major] Gene Dosage / genetics. Genetic Predisposition to Disease / genetics. Neurofibromatosis 2 / complications. Neurofibromatosis 2 / genetics. Neurofibromin 2 / genetics. Polyneuropathies / genetics

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(PMID = 17655741.001).

[ISSN] 1015-6305

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

[ISO-abbreviation] Brain Pathol.

[Language] eng

[Publication-type] Journal Article

[Publication-country] Switzerland

[Chemical-registry-number] 0 / Genetic Markers; 0 / Neurofibromin 2

   

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

[Title] Whole-body MRI evaluation of tumor burden in the neurofibromatosis tumor suppressor syndromes.

: 2074 Background: Neurofibromatosis 1 (NF1), NF2, and schwannomatosis are a group of related genetic disorders in which affected individuals share the predisposition to develop multiple neurofibromas and schwannomas.

METHODS: We performed WBMRI in subjects with NF1, NF2, or schwannomatosis as part of an IRB-approved research study.

The number and type of tumors (discrete vs. plexiform) were identified by a board-certified radiologist and tumor volume was calculated using semi-automated analysis.

RESULTS: A total of 100 subjects were imaged (NF1-50; NF2-25, schwannomatosis-25).

CONCLUSIONS: WBMRI scan is a powerful tool to evaluate the number, size, and distribution of internal tumors in patients with neurofibromatosis.

This technique provides unique phenotypic information for genetic studies on NF1, NF2, and schwannomatosis.

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(PMID = 27964382.001).

[ISSN] 1527-7755

[Journal-full-title] Journal of clinical oncology : official journal of the American Society of Clinical Oncology

[ISO-abbreviation] J. Clin. Oncol.

[Language] eng

[Publication-type] Journal Article

[Publication-country] United States

   

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

[Title] Identification of genetic aberrations on chromosome 22 outside the NF2 locus in schwannomatosis and neurofibromatosis type 2.

Schwannomatosis is characterized by multiple peripheral and cranial nerve schwannomas that occur in the absence of bilateral 8th cranial nerve schwannomas.

The latter is the main diagnostic criterion of neurofibromatosis type 2 (NF2), which is a related but distinct disorder.

The genetic factors underlying the differences between schwannomatosis and NF2 are poorly understood, although available evidence implicates chromosome 22 as the primary location of the gene(s) of interest.

To investigate this, we comprehensively profiled the DNA copy number in samples from sporadic and familial schwannomatosis, NF2, and a large cohort of normal controls.

In DNA derived from peripheral blood from a schwannomatosis patient and a sporadic schwannoma sample, we detected rearrangements of the immunoglobulin lambda (IGL) locus, which is unlikely to be due to a B-cell specific somatic recombination of IGL.

Analysis of normal controls indicated that these IGL rearrangements were restricted to schwannomatosis/schwannoma samples.

We further describe missense mutations in the CABIN1 gene that are specific to samples from schwannomatosis and NF2 and make this gene a plausible candidate for contributing to the pathogenesis of these disorders.

[MeSH-major] Chromosome Aberrations. Chromosomes, Human, Pair 22 / genetics. Genes, Neurofibromatosis 2. Neurilemmoma / genetics. Neurofibromatosis 2 / genetics

[MeSH-minor] Adaptor Proteins, Signal Transducing. Calcineurin / genetics. Chromosome Mapping. Computational Biology. Diagnosis, Differential. Gene Dosage. Gene Rearrangement. Glutathione Transferase / genetics. Humans. Immunoglobulin lambda-Chains / genetics. Microarray Analysis. Mutation. Phosphoproteins / genetics. Polymorphism, Genetic

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[Copyright] Copyright 2005 Wiley-Liss, Inc.

(PMID = 16287142.001).

[ISSN] 1098-1004

[Journal-full-title] Human mutation

[ISO-abbreviation] Hum. Mutat.

[Language] eng

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

[Publication-country] United States

[Chemical-registry-number] 0 / Adaptor Proteins, Signal Transducing; 0 / CABIN1 protein, human; 0 / Immunoglobulin lambda-Chains; 0 / Phosphoproteins; EC 2.5.1.- / glutathione S-transferase T1; EC 2.5.1.18 / Glutathione Transferase; EC 3.1.3.16 / Calcineurin

   

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

[Title] Neurofibromatosis 2 (NF2) and malignant mesothelioma in a man with a constitutional NF2 missense mutation.

Neurofibromatosis 2 (NF2) is caused by inactivating mutations of the NF2 tumor suppressor gene.

Somatic NF2 mutations also occur in a high proportion of human primary malignant mesotheliomas.

We report an elderly man with NF2, malignant mesothelioma, and a constitutional NF2 missense mutation.

The long latent period for mesothelioma in this patient (61 years) raises the possibility that the type of mutant NF2 allele could affect mesothelioma tumorigenesis or progression.

[MeSH-major] Genes, Neurofibromatosis 2. Mesothelioma / complications. Mesothelioma / genetics. Neurofibromatosis 2 / genetics. Occupational Exposure / adverse effects. Pleural Neoplasms / genetics

[MeSH-minor] Aged. Asbestos / adverse effects. Humans. Male. Mutation, Missense. Neuroma, Acoustic / etiology. Polymerase Chain Reaction

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[Cites] Oncogene. 2003 Jun 12;22(24):3799-805 [12802287.001]

[Cites] J Med Genet. 1992 Dec;29(12 ):841-6 [1479598.001]

[Cites] Am J Hum Genet. 2002 Oct;71(4):715-23 [12235555.001]

[Cites] Semin Oncol. 2002 Feb;29(1):2-17 [11836664.001]

[Cites] J Natl Cancer Inst. 1987 Jun;78(6):1053-60 [3473246.001]

[Cites] Nature. 1993 Jun 10;363(6429):515-21 [8379998.001]

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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

   

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

[Title] The merlin interacting proteins reveal multiple targets for NF2 therapy.

The neurofibromatosis 2 (NF2) tumor suppressor protein merlin is commonly mutated in human benign brain tumors.

The gene altered in NF2 was located on human chromosome 22q12 in 1993 and the encoded protein named merlin and schwannomin.

This review describes these proteins, their possible roles in NF2, and the resultant hypothesized merlin functions.

Review of all of the merlin interacting proteins and functional consequences of losses of these interactions reveals multiple merlin actions in PI3-kinase, MAP kinase and small GTPase signaling pathways that might be targeted to inhibit the proliferation of NF2 tumors.

[MeSH-major] Neurofibromatosis 2 / drug therapy. Neurofibromin 2 / metabolism

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(PMID = 17980164.001).

[ISSN] 0006-3002

[Journal-full-title] Biochimica et biophysica acta

[ISO-abbreviation] Biochim. Biophys. Acta

[Language] eng

[Publication-type] Journal Article; Review

[Publication-country] Netherlands

[Chemical-registry-number] 0 / Cytoskeletal Proteins; 0 / Neurofibromin 2; 0 / Tumor Suppressor Proteins; 0 / ezrin

[Number-of-references] 210

   

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

[Title] Functional inactivation of NF2/merlin in human mesothelioma.

The tumor suppressor merlin is encoded by the neurofibromatosis type 2 gene (NF2) which is located on chromosome 22q12 and mutations in this gene have been found in 40% of mesothelioma.

Experimental animal models indicate that disruption of the NF2 signalling pathway, together with a deficiency in ink4a, is essential for mesothelioma development.

Our hypothesis was that in human mesothelioma without detectable NF2 mutations, regulators of NF2/merlin activity such as CPI-17 would be altered.

CPI-17 is an oncogene inhibiting the NF2/merlin phosphatase which is necessary to maintain NF2/merlin activity.

Samples obtained from 44 mesothelioma, 3 asbestosis patients and 6 normal pleura from non-asbestos related disease patients were analyzed.

Truncated NF2 transcripts or presence of isoform II only were observed in 11 mesothelioma samples.

In all other mesothelioma samples only NF2 isoform I or isoforms I and II were detected.

Unexpected variants in addition to wild-type were identified in 24 mesothelioma samples.

NF2 protein was either truncated or phosphorylated on Ser 518 in primary cultures derived from 25 tumors.

CPI-17 expression was significantly increased in tumor samples without deleted NF2 compared to normal pleura and tumor expressing truncated NF2.

Our results support the hypothesis that the disruption of NF2 signalling is essential for the development of human mesothelioma.

In tumors where no NF2 truncation can be detected, NF2 is rendered inactive by phosphorylation of Ser 518 and this can be explained at least in part by an increased expression of CPI-17.

[MeSH-major] Gene Expression Regulation, Neoplastic. Genes, Neurofibromatosis 2. Mesothelioma / metabolism. Neurofibromin 2 / metabolism. Phosphoprotein Phosphatases / metabolism

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(PMID = 18835652.001).

[ISSN] 1872-8332

[Journal-full-title] Lung cancer (Amsterdam, Netherlands)

[ISO-abbreviation] Lung Cancer

[Language] eng

[Publication-type] Journal Article

[Publication-country] Ireland

[Chemical-registry-number] 0 / Neurofibromin 2; 0 / PPP1R14A protein, human; 0 / Protein Isoforms; EC 3.1.3.16 / Phosphoprotein Phosphatases

   

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

[Title] [A case of neurofibromatosis type 2 (NF2) presenting with late-onset axonal polyneuropathy].

The patient was a 69-year-old man who had a two-year history of slowly-progressive gait disturbance, paresthesia of the distal legs and bilateral hearing impairment.

Gadolinium-enhanced brain and spinal cord MRI revealed bilateral vestibular schwannomas, and multiple small schwannomas in the cauda equina, the surface of spinal cord and lumbar muscles.

Genetic examination disclosed a point mutation in the exon 2 (T161C: L54P) of the neurofibromatosis 2 (NF2) gene, and the diagnosis of NF2 was made.

It has been reported that axonal polyneuropathy is frequently observed in patients with NF2.

Therefore, it is possible that axonal polyneuropathy of the present patient may be due to the abnormality of the NF2 gene, but not to the direct compression of the tumors, because the localization of his schwannomas in the cauda equina and the spinal cord could not explain his symmetric polyneuropathy.

NF2 should be considered as a differential diagnosis in patients with axonal polyneuropathy, even if it is late-onset.

[MeSH-major] Neurofibromatosis 2 / complications. Polyneuropathies / complications

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(PMID = 19715170.001).

[ISSN] 0009-918X

[Journal-full-title] Rinshō shinkeigaku = Clinical neurology

[ISO-abbreviation] Rinsho Shinkeigaku

[Language] jpn

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

[Publication-country] Japan

   

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

[Title] Neurofibromatosis 2 [Bilateral acoustic neurofibromatosis, central neurofibromatosis, NF2, neurofibromatosis type II].

Neurofibromatosis 2 is a dominantly inherited tumor predisposition syndrome caused by mutations in the NF2 gene on chromosome 22.

Affected individuals inevitably develop schwannomas typically affecting both vestibular nerves leading to deafness.

In excess of 50% of patients represent new mutations and as many as one third are mosaic for the underlying disease causing mutation.

Although truncating mutations (nonsense and frameshifts) are the most frequent germline event and cause the most severe disease, single and multiple exon deletions are common.

NF2 represents a difficult management problem with most patients facing substantial morbidity and reduced life expectancy.

[MeSH-major] Genes, Neurofibromatosis 2. Neurofibromatosis 2 / diagnosis. Neurofibromatosis 2 / genetics

[MeSH-minor] Diagnosis, Differential. Genetic Counseling. Genetic Testing. Humans. Prenatal Diagnosis

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(PMID = 19652604.001).

[ISSN] 1530-0366

[Journal-full-title] Genetics in medicine : official journal of the American College of Medical Genetics

[ISO-abbreviation] Genet. Med.

[Language] eng

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

[Publication-country] United States

[Number-of-references] 85

   

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

[Title] Evidence of a four-hit mechanism involving SMARCB1 and NF2 in schwannomatosis-associated schwannomas.

Schwannomatosis is characterized by the onset of multiple intracranial, spinal, or peripheral schwannomas, without involvement of the vestibular nerve, which is instead pathognomonic of neurofibromatosis type 2 (NF2).

We report on the molecular analysis of the SMARCB1 and NF2 genes in a series of 21 patients with schwannomatosis and in eight schwannomatosis-associated tumors from four different patients.

A novel germline SMARCB1 mutation was found in one patient; inactivating somatic mutations of NF2, associated with loss of heterozygosity (LOH) of 22q, were found in two schwannomas of this patient.

This is the second report of a germline SMARCB1 mutation in patients affected by schwannomatosis and the first report of SMARCB1 mutations associated with somatic NF2 mutations in schwannomatosis-associated tumors.

The latter observation suggests that a four-hit mechanism involving the SMARCB1 and NF2 genes may be implicated in schwannomatosis-related tumorigenesis.

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[Copyright] (c) 2007 Wiley-Liss, Inc.

(PMID = 18072270.001).

[ISSN] 1098-1004

[Journal-full-title] Human mutation

[ISO-abbreviation] Hum. Mutat.

[Language] eng

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

[Publication-country] United States

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

   

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

[Title] Screening for large mutations of the NF2 gene.

Neurofibromatosis 2 (NF2) is a genetic disorder caused by mutational inactivation of the NF2 gene and is characterized by bilateral vestibular schwannomas, spinal tumors, and other benign tumors of the nervous system.

Previously, we found intragenic NF2 mutations in 99 of 188 unrelated NF2 patients by exon-scanning-based methods.

Tumor analysis of 22 de novo NF2 patients led to the identification of 12 additional constitutive NF2 mutations.

One deletion of a single exon, seven deletions of multiple exons, seven deletions involving the 3' or 5' end of the NF2 gene, four deletions involving the whole NF2 gene, and one duplication of three exons were detected.

Thus, deletions, duplications, and insertions affecting the NF2 gene were found in 21 cases, which is 11% of the 188 unrelated NF2 patients studied, 16% of the 132 mutations identified, and 27% of the 77 cases in which no intragenic small mutations were detected by exon scanning.

[MeSH-major] Genes, Neurofibromatosis 2. Mutation

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[Copyright] (c) 2005 Wiley-Liss, Inc.

(PMID = 15645494.001).

[ISSN] 1045-2257

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

[ISO-abbreviation] Genes Chromosomes Cancer

[Language] eng

[Publication-type] Journal Article

[Publication-country] United States

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

   

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

[Title] Detection of rearrangements in the NF2 gene using semi-quantitative multiplex fluorescent PCR.

Neurofibromatosis type 2 (NF2) is an autosomal dominant disorder that predisposes to the development of bilateral vestibular schwannomas (sometimes associated with schwannomas at other locations), meningiomas, and ependymomas.

Point mutations that inactivate the NF2 tumor suppressor gene, located in 22q12, have been found in 45-85% of NF2 patients; in addition, large genomic deletions can be found.

To evaluate the presence of genomic NF2 rearrangements, we have developed a fluorescent semiquantitative multiplex PCR method.

Briefly, short fragments corresponding to the 17 exons, the promoter region, and the 3' end of the NF2 gene were co-amplified by PCR using dye primers.

The fluorescent multiplex PCR method was then used to analyze 21 NF2 individuals in which single-strand conformational polymorphism (SSCP) analysis and/or direct sequencing had revealed no NF2 point mutations; we were able to detect two deletions and one duplication in NF2 in 3 patients.

In conclusion, the method we developed could easily be applied in detecting NF2 deletions and duplications.

Discovering genomic duplications is invaluable because they are probably the most difficult molecular alterations to detect with conventional methods and, as a consequence, might be an underestimated cause of NF2.

[MeSH-major] Gene Rearrangement. Genes, Neurofibromatosis 2. Polymerase Chain Reaction / methods

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(PMID = 15857181.001).

[ISSN] 1090-6576

[Journal-full-title] Genetic testing

[ISO-abbreviation] Genet. Test.

[Language] eng

[Publication-type] Journal Article

[Publication-country] United States

[Chemical-registry-number] 0 / DNA Primers

   

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

[Title] Nf2/Merlin controls progenitor homeostasis and tumorigenesis in the liver.

We report here that liver-specific deletion of the neurofibromatosis type 2 (Nf2) tumor suppressor gene in the developing or adult mouse specifically yields a dramatic, progressive expansion of progenitor cells throughout the liver without affecting differentiated hepatocytes.

All surviving mice eventually developed both cholangiocellular and hepatocellular carcinoma, suggesting that Nf2(-/-) progenitors can be a cell of origin for these tumors.

Despite the suggested link between Nf2 and the Hpo/Wts/Yki signaling pathway in Drosophila, and recent studies linking the corresponding Mst/Lats/Yap pathway to mammalian liver tumorigenesis, our molecular studies suggest that Merlin is not a major regulator of YAP in liver progenitors, and that the overproliferation of Nf2(-/-) liver progenitors is instead driven by aberrant epidermal growth factor receptor (EGFR) activity.

Indeed, pharmacologic inhibition of EGFR blocks the proliferation of Nf2(-/-) liver progenitors in vitro and in vivo, consistent with recent studies indicating that the Nf2-encoded protein Merlin can control the abundance and signaling of membrane receptors such as EGFR.

Together, our findings uncover a critical role for Nf2/Merlin in controlling homeostasis of the liver stem cell niche.

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[CommentIn] Dev Cell. 2010 Sep 14;19(3):363-4 [20833359.001]

[CommentIn] Hepatology. 2011 May;53(5):1767-70 [21520182.001]

[CommentIn] Nat Rev Cancer. 2010 Oct;10(10):666 [21080567.001]

[CommentIn] Genes Dev. 2010 Aug 15;24(16):1673-9 [20713513.001]

(PMID = 20675406.001).

[ISSN] 1549-5477

[Journal-full-title] Genes & development

[ISO-abbreviation] Genes Dev.

[Language] ENG

[Grant] United States / NCI NIH HHS / CA / CA124030-03; United States / NCI NIH HHS / CA / F32 CA124030-03; United States / NCI NIH HHS / CA / F32 CA124030; United States / NCI NIH HHS / CA / R01 CA113733; United States / NIGMS NIH HHS / GM / R01 GM087558; United States / NIAID NIH HHS / AI / P30 AI060354

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

[Publication-country] United States

[Chemical-registry-number] 0 / Adaptor Proteins, Signal Transducing; 0 / Neurofibromin 2; 0 / Phosphoproteins; 0 / Yap protein, mouse; EC 2.7.10.1 / Receptor, Epidermal Growth Factor

[Other-IDs] NLM/ PMC2922501

   

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

[Title] Soft tissue perineurioma in a patient with neurofibromatosis type 2: a tumor not previously associated with the NF2 syndrome.

Neoplasms that commonly affect patients with neurofibromatosis type 2 (NF2) include schwannomas, meningiomas, astrocytomas, ependymomas, and neurofibromas.

As in both NF2-associated and sporadic cases of schwannoma and meningioma, perineuriomas often harbor mutations or deletions of the NF2 gene.

However, perineuriomas have not previously been reported in the clinical setting of NF2.

A 30-year-old man with a history of bilateral vestibular schwannomas, a parasagittal meningioma, an intraspinal ependymoma, and multiple other neoplasms involving both cranial and peripheral nerves (thereby fulfilling the diagnostic criteria for NF2) presented with an enlarging thigh mass.

The diagnosis of cellular soft tissue perineurioma was confirmed by both immunohistochemical and ultrastructural analysis.

This case represents the first report of a soft tissue perineurioma arising in the setting of NF2.

[MeSH-major] Nerve Sheath Neoplasms / complications. Neurofibromatosis 2 / complications. Soft Tissue Neoplasms / complications

[MeSH-minor] Adult. Biomarkers, Tumor / analysis. Cytoplasm / ultrastructure. Diagnosis, Differential. Humans. Male. Neoplasms, Multiple Primary. Peripheral Nervous System Neoplasms / diagnosis

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(PMID = 17122521.001).

[ISSN] 0147-5185

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

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

[Language] eng

[Publication-type] Case Reports; Journal Article

[Publication-country] United States

[Chemical-registry-number] 0 / Biomarkers, Tumor

   

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

[Title] Purification of the NF2 tumor suppressor protein from human erythrocytes.

BACKGROUND: Neurofibromatosis type 2 (NF2) is an autosomal dominant disease predisposing individuals to the risk of developing tumors of cranial and spinal nerves.

The NF2 tumor suppressor protein, known as Merlin/Schwanomin, is a member of the protein 4.1 superfamily that function as links between the cytoskeleton and the plasma membrane.

METHODS: Upon selective extraction of membrane-associated proteins from erythrocyte plasma membrane (ghosts) using low ionic strength solution, the bulk of NF2 protein remains associated with the spectrin-actin depleted inside-out-vesicles.

Furthermore, quantitative removal of NF2 protein from the inside-out-vesicles was achieved using 1.0 M potassium iodide, a treatment known to remove tightly-bound peripheral membrane proteins.

RESULTS: These results suggest a novel mode of NF2 protein association with the erythrocyte membrane that is distinct from the known membrane interactions of protein 4.1.

Based on these biochemical properties, several purification strategies were devised to isolate native NF2 protein from human erythrocyte ghosts.

Using purified and recombinant NF2 protein as internal standards, we quantified approximately 41-65,000 molecules of NF2 protein per erythrocyte.

CONCLUSION: We provide evidence for the presence of NF2 protein in the human erythrocyte membrane.

The identification of NF2 protein in the human erythrocyte membrane will make it feasible to discover novel interactions of NF2 protein utilizing powerful techniques of erythrocyte biochemistry and genetics in mammalian cells.

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(PMID = 17168165.001).

[ISSN] 0317-1671

[Journal-full-title] The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques

[ISO-abbreviation] Can J Neurol Sci

[Language] eng

[Grant] United States / NHLBI NIH HHS / HL / HL 60755

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

[Publication-country] Canada

[Chemical-registry-number] 0 / Neurofibromin 2

   

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

[Title] [Mutation analysis of NF2 gene and clinical investigation in a Chinese family with neurofibromatosis type II].

OBJECTIVE: To report a heterozygous RNA-splicing mutation (IVS3+ 3A to C) of NF2 gene in a Chinese family with autosomal dominant neurofibromatosis type II and investigate the relationship between the genotype and phenotype.

METHODS: The proband with bilateral vestibular schwannomas underwent gamma knife radiosurgery two years earlier.

DNA of blood samples from all affected individuals, suspected individuals and unaffected relatives of the family was extracted and amplified to detect the polymorphisms at loci D22S1150 and D22S268 that are linked with the NF2 gene.

The promoter region, 17 exons and exon/intron boundaries of NF2 gene were amplified and sequenced for the proband.

The exon 3/intron 3 boundaries of NF2 gene was amplified and sequenced for the other 3 patients, 1 suspected individual, 9 unaffected members of the family and 150 unrelated controls.

RESULTS: The result of two-point linkage analysis suggested that NF2 gene was a candidate gene (Zmax= 2.109, θ = 0.00, locus D22S1150).

No mutation was found in the 9 normal family members and 150 unrelated controls, which was consistent with the clinical diagnosis.

CONCLUSION: This is the first report of familial neurofibromatosis type II with a splicing mutation of IVS3+ 3A to C of the NF2 gene.

The mutation might be responsible for the neurofibromatosis type II in the family.

[MeSH-major] Asian Continental Ancestry Group / genetics. DNA Mutational Analysis / methods. Mutation / genetics. Neurofibromatosis 2 / genetics. Neurofibromin 2 / genetics. Pedigree

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(PMID = 21154335.001).

[ISSN] 1003-9406

[Journal-full-title] Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics

[ISO-abbreviation] Zhonghua Yi Xue Yi Chuan Xue Za Zhi

[Language] chi

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

[Publication-country] China

[Chemical-registry-number] 0 / Neurofibromin 2

   

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

[Title] Modeling NF2 with human arachnoidal and meningioma cell culture systems: NF2 silencing reflects the benign character of tumor growth.

Meningiomas, common tumors arising from arachnoidal cells of the meninges, may occur sporadically, or in association with the inherited disorder, neurofibromatosis 2 (NF2).

Most sporadic meningiomas result from NF2 inactivation, resulting in loss of tumor suppressor merlin, implicated in regulating membrane-cytoskeletal organization.

To investigate merlin function in an authentic target cell type for NF2 tumor formation, we established primary cultures from genetically-matched meningioma and normal arachnoidal tissues.

Our studies revealed novel and distinct cell biological and biochemical properties unique to merlin-deficient meningioma cells compared to merlin-expressing arachnoidal and meningioma cells, and other NF2-deficient cell types.

Merlin suppression by RNAi in arachnoidal cells replicated merlin-deficient meningioma features, thus establishing these cell systems as disease-relevant models for studying NF2 tumorigenesis.

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(PMID = 17962031.001).

[ISSN] 0969-9961

[Journal-full-title] Neurobiology of disease

[ISO-abbreviation] Neurobiol. Dis.

[Language] ENG

[Grant] United States / NINDS NIH HHS / NS / P30 NS045776-04; United States / NINDS NIH HHS / NS / NS024279-15A10010; United States / NINDS NIH HHS / NS / P01 NS024279-130001; United States / NINDS NIH HHS / NS / NS024279-160010; United States / NINDS NIH HHS / NS / P30 NS045776-03; United States / NINDS NIH HHS / NS / NS045776; United States / NINDS NIH HHS / NS / NS045776-05; United States / NINDS NIH HHS / NS / NS045776-019003; United States / NINDS NIH HHS / NS / NS045776-01; United States / NINDS NIH HHS / NS / NS024279-140001; United States / NINDS NIH HHS / NS / NS041917-04; United States / NINDS NIH HHS / NS / P30 NS045776; United States / NINDS NIH HHS / NS / P30 NS045776-019001; United States / NINDS NIH HHS / NS / NS024279; United States / NINDS NIH HHS / NS / NS024279-130001; United States / NINDS NIH HHS / NS / NS041917-02; United States / NINDS NIH HHS / NS / R01 NS041917; United States / NINDS NIH HHS / NS / R01 NS041917-05; United States / NINDS NIH HHS / NS / R01 NS041917-02; United States / NINDS NIH HHS / NS / NS045776-04; United States / NINDS NIH HHS / NS / P01 NS024279-15A10010; United States / NINDS NIH HHS / NS / NS024279-120001; United States / NINDS NIH HHS / NS / NS041917-05; United States / NINDS NIH HHS / NS / P30 NS045776-01; United States / NINDS NIH HHS / NS / NS041917-03; United States / NINDS NIH HHS / NS / P01 NS024279-120001; United States / NINDS NIH HHS / NS / P30 NS045776-019003; United States / NINDS NIH HHS / NS / NS045776-03; United States / NINDS NIH HHS / NS / P30 NS045776-02; United States / NINDS NIH HHS / NS / P30 NS045776-05; United States / NINDS NIH HHS / NS / P01 NS024279; United States / NINDS NIH HHS / NS / R01 NS041917-01; United States / NINDS NIH HHS / NS / NS041917-01; United States / NINDS NIH HHS / NS / R01 NS041917-04; United States / NINDS NIH HHS / NS / NS045776-019001; United States / NINDS NIH HHS / NS / P01 NS024279-140001; United States / NINDS NIH HHS / NS / NS041917; United States / NINDS NIH HHS / NS / R01 NS041917-03; United States / NINDS NIH HHS / NS / P01 NS024279-160010

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

[Publication-country] United States

[Chemical-registry-number] 0 / Actins; 0 / Catenins; 0 / Membrane Proteins; 0 / Neoplasm Proteins; 0 / Neurofibromin 2; 0 / RNA, Small Interfering; G34N38R2N1 / Bromodeoxyuridine

[Other-IDs] NLM/ NIHMS39296; NLM/ PMC2266821

   

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

[Title] Neurofibromatosis type 2 (NF2): a clinical and molecular review.

Neurofibromatosis type 2 (NF2) is a tumour-prone disorder characterised by the development of multiple schwannomas and meningiomas.

Affected individuals inevitably develop schwannomas, typically affecting both vestibular nerves and leading to hearing loss and deafness.

Vestibular schwannomas may also cause dizziness or imbalance as a first symptom.

Nausea, vomiting or true vertigo are rare symptoms, except in late-stage disease.

The other main tumours are schwannomas of the other cranial, spinal and peripheral nerves; meningiomas both intracranial (including optic nerve meningiomas) and intraspinal, and some low-grade central nervous system malignancies (ependymomas).

About 70% of NF2 patients have skin tumours (intracutaneous plaque-like lesions or more deep-seated subcutaneous nodular tumours).

Neurofibromatosis type 2 is a dominantly inherited tumour predisposition syndrome caused by mutations in the NF2 gene on chromosome 22.

More than 50% of patients represent new mutations and as many as one-third are mosaic for the underlying disease-causing mutation.

Although truncating mutations (nonsense and frameshifts) are the most frequent germline event and cause the most severe disease, single and multiple exon deletions are common.

Diagnosis is based on clinical and neuroimaging studies.

Presymptomatic genetic testing is an integral part of the management of NF2 families.

Prenatal diagnosis and pre-implantation genetic diagnosis is possible.

The main differential diagnosis of NF2 is schwannomatosis.

NF2 represents a difficult management problem with most patients facing substantial morbidity and reduced life expectancy.

[MeSH-major] Neurofibromatosis 2

[MeSH-minor] Adolescent. Adult. Genes, Neurofibromatosis 2. Humans. Mutation. Prognosis. Young Adult

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Genetic Alliance. consumer health - Neurofibromatosis type 2.

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(PMID = 19545378.001).

[ISSN] 1750-1172

[Journal-full-title] Orphanet journal of rare diseases

[ISO-abbreviation] Orphanet J Rare Dis

[Language] eng

[Publication-type] Journal Article; Review

[Publication-country] England

[Number-of-references] 64

[Other-IDs] NLM/ PMC2708144

   

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

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

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

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

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

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

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

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

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

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(PMID = 15635074.001).

[ISSN] 1468-6244

[Journal-full-title] Journal of medical genetics

[ISO-abbreviation] J. Med. Genet.

[Language] eng

[Publication-type] Journal Article

[Publication-country] England

[Other-IDs] NLM/ PMC1735900

   

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

[Title] Update on long-term results with auditory brainstem implants in NF2 patients.

This study reviews the long-term results of auditory brainstem implant (ABI) in neurofibromatosis type 2 (NF2) patients.

In conclusion, ABI provides a safe and useful tool for aural rehabilitation in NF2 patients.

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

[MeSH-minor] Adult. Follow-Up Studies. Humans. Middle Aged. Neuroma, Acoustic / surgery. Speech Perception. Young Adult

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[Copyright] Copyright 2009 John Wiley & Sons, Ltd.

(PMID = 19230037.001).

[ISSN] 1754-7628

[Journal-full-title] Cochlear implants international

[ISO-abbreviation] Cochlear Implants Int

[Language] eng

[Publication-type] Journal Article

[Publication-country] England

   

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

[Title] Evaluation of NF2 gene deletion in sporadic schwannomas, meningiomas, and ependymomas by chromogenic in situ hybridization.

Fluorescence in situ hybridization, loss of heterozygosity testing, and comparative genomic hybridization have been used to detect NF2 gene alterations in both sporadic and neurofibromatosis type 2 (NF2)-associated central nervous system tumors.

In this study, we performed chromogenic in situ hybridization (CISH) and immunohistochemistry to evaluate for NF2 gene deletion in a group of sporadic meningiomas, schwannomas, and ependymomas.

CISH and immunohistochemistry were performed using the NF2 gene deletion probe and NF2 polyclonal antibody.

Deletion of the NF2 gene was identified in 11 (50%) tumors, including 60% (6/10) of meningiomas, 33% (3/9) of ependymomas, and 67% (2/3) of schwannomas.

Overall, immunoexpression of NF2 protein was observed in 50% (11/22) tumors, and concordance between CISH and immunohistochemistry was observed in 73% of cases.

Our results support previous observations that schwannomas and meningiomas, and to a lesser degree, ependymomas, express a high incidence of NF2 gene deletion, which supports the hypothesis that NF2 gene plays an important role in their tumorigenesis.

In addition, we have validated CISH as an efficient, economic, and reliable method for routinely assessing NF2 gene deletion in these tumors.

[MeSH-major] Ependymoma / pathology. Gene Deletion. Genes, Neurofibromatosis 2. Meningioma / pathology. Neurilemmoma / pathology

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(PMID = 17509660.001).

[ISSN] 0046-8177

[Journal-full-title] Human pathology

[ISO-abbreviation] Hum. Pathol.

[Language] eng

[Grant] United States / Intramural NIH HHS / / Z99 CA999999

[Publication-type] Journal Article; Validation Studies

[Publication-country] United States

[Other-IDs] NLM/ NIHMS29654; NLM/ PMC2094208

   

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

[Title] Re-expression of the tumor suppressor NF2/merlin inhibits invasiveness in mesothelioma cells and negatively regulates FAK.

The neurofibromatosis type 2 NF2 gene product, merlin, is a tumor suppressor frequently inactivated in malignant mesothelioma (MM).

To investigate a possible correlation between merlin inactivation and MM invasiveness, we restored merlin expression in NF2-deficient MM cells.

To test directly whether merlin inactivation promotes invasion in a nonmalignant system, we used small interfering RNA to silence Nf2 in mouse embryonic fibroblasts (MEFs) and found that downregulation of merlin resulted in enhanced cell spreading and invasion.

In addition, NF2-null MM cells stably overexpressing FAK showed increased invasiveness, which decreased significantly when merlin expression was restored.

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(PMID = 16652148.001).

[ISSN] 0950-9232

[Journal-full-title] Oncogene

[ISO-abbreviation] Oncogene

[Language] eng

[Grant] United States / NCI NIH HHS / CA / CA-06927; United States / NCI NIH HHS / CA / CA-114047; United States / NCI NIH HHS / CA / CA-45745

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

[Publication-country] England

[Chemical-registry-number] 0 / Neurofibromin 2; EC 2.7.10.2 / Focal Adhesion Protein-Tyrosine Kinases

   

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

[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

   

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

[Title] Should NF2 mutation screening be undertaken in patients with an apparently isolated vestibular schwannoma?

Early onset of vestibular schwannoma (VS) is associated with the inherited condition neurofibromatosis type 2 (NF2).

However, the majority of NF2 presents bilaterally and the proportion of early-onset apparent sporadic unilateral VS because of NF2 remains to be determined.

We have determined the risk by studying NF2 risk in a population-based set of VS, looking at the mode of presentation in a large NF2 data set and the outcome of NF2 mutation analysis in 148 sporadic unilateral vs. The risk of NF2 in an apparently sporadic case of unilateral VS is small apart from in the very youngest age group (<20 years).

NF2 germ line mutation testing is unlikely to reveal a mutation except <20 years as a result of the low risk and high rates of mosaicism.

Germ line mutation testing is probably only justified in sporadic unilateral VS <20 years unless other features of NF2 are present.

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

[MeSH-minor] Adolescent. Adult. Age of Onset. Child. DNA Mutational Analysis. England. Genetic Testing. Germ-Line Mutation. Humans. Middle Aged. Mosaicism. Neurofibromatosis 2 / complications. Neurofibromatosis 2 / genetics. Risk Factors

Genetic Alliance. consumer health - Schwannoma.

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(PMID = 17470137.001).

[ISSN] 0009-9163

[Journal-full-title] Clinical genetics

[ISO-abbreviation] Clin. Genet.

[Language] eng

[Publication-type] Journal Article

[Publication-country] Denmark

   

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

[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

   

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

[Title] NF2-deficient cells depend on the Rac1-canonical Wnt signaling pathway to promote the loss of contact inhibition of proliferation.

The neurofibromatosis type 2 (NF2) tumor suppressor gene encodes merlin, a membrane/cytoskeleton protein necessary for the maintenance of contact inhibition of growth in cells.

Bi-allelic inactivation of NF2 is known to cause multiple cancers in both humans and mice.

In this report, we show that NF2 knockout mouse embryonic fibroblasts lost contact inhibition of cell proliferation and contained significantly increased canonical Wnt signaling.

Inhibition of Rac1, the activity of which is inversely regulated by NF2, through the use of a dominant-negative mutant, small hairpin RNA or a small molecule inhibitor in NF2-deficient cells, was able to suppress elevated Wnt signals as shown by reduced activity of the T-cell factor 4 (TCF4) transcription factor.

Dominant-negative TCF4 or Rac1 mutant, as well as a small molecule inhibition of Wnt, were able to curb NF2 deficiency-elicited cell proliferation at the confluent state.

Thus, Rac1-mediated canonical Wnt signaling is essential for the loss of contact inhibition in NF2-deficient cells.

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(PMID = 20154721.001).

[ISSN] 1476-5594

[Journal-full-title] Oncogene

[ISO-abbreviation] Oncogene

[Language] ENG

[Grant] United States / NCI NIH HHS / CA / R01 CA118032-01A2; United States / NCI NIH HHS / CA / CA141341-10; United States / NCI NIH HHS / CA / CA125658-03S1; United States / NCI NIH HHS / CA / R01 CA125658; United States / NCI NIH HHS / CA / R01 CA141341; United States / NCI NIH HHS / CA / T32 CA117846; United States / NCI NIH HHS / CA / R01 CA141341-10; United States / NCI NIH HHS / CA / CA118032-01A2; United States / NCI NIH HHS / CA / R01 CA118032; United States / NCI NIH HHS / CA / R01 CA125658-03S1

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

[Publication-country] England

[Chemical-registry-number] 0 / Neurofibromin 2; 0 / Neuropeptides; 0 / Rac1 protein, mouse; 0 / Wnt Proteins; EC 3.6.5.2 / rac GTP-Binding Proteins; EC 3.6.5.2 / rac1 GTP-Binding Protein

[Other-IDs] NLM/ NIHMS171212; NLM/ PMC2861729

   

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

[Title] Molecular characterization of the NF2 gene in Korean patients with neurofibromatosis type 2: a report of four novel mutations.

BACKGROUND: Neurofibromatosis type 2 (NF2) is an autosomal dominant syndrome caused by the NF2 tumor suppressor gene.

However, the NF2 mutation characteristics in Korean patients are not sufficiently understood.

In this study, we conducted a comprehensive mutational analysis in 7 Korean NF2 patients by performing direct sequencing and gene-dosage assessment.

METHODS: We analyzed all exons and flanking regions of NF2 by direct sequencing and screened the deletions or duplications involving NF2 by multiplex ligation-dependent probe amplification.

RESULTS: Four novel NF2 mutations, including 2 splice-site mutations (c.364-1G>A and c.886-3C>G), 1 frameshift mutation (c.524delA), and 1 missense mutation (c.397T>C; p.Cys133Arg), were identified in our patients.

CONCLUSIONS: The detection rate of NF2 mutations in Korean patients (57%) is similar to those in other populations.

Our results provided a greater insight into the mutational spectrum of the NF2 gene in Korean subjects.

[MeSH-major] Asian Continental Ancestry Group / genetics. Genes, Neurofibromatosis 2. Mutation. Neurofibromatosis 2 / genetics

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(PMID = 20445339.001).

[ISSN] 1598-6535

[Journal-full-title] The Korean journal of laboratory medicine

[ISO-abbreviation] Korean J Lab Med

[Language] eng

[Publication-type] Journal Article

[Publication-country] Korea (South)

[Chemical-registry-number] 0 / RNA Splice Sites