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

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

Two patients suffered from neurofibromatosis type 2.

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

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

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(PMID = 16464537.001).

[ISSN] 0360-3016

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

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

[Language] eng

[Publication-type] Evaluation Studies; Journal Article

[Publication-country] United States

   

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[Title] Genesis and biology of vestibular schwannomas.

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

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

S/M is the normal NF2 gene product.

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

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

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

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

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(PMID = 18810196.001).

[ISSN] 0079-6492

[Journal-full-title] Progress in neurological surgery

[ISO-abbreviation] Prog Neurol Surg

[Language] eng

[Publication-type] Journal Article; Review

[Publication-country] Switzerland

[Chemical-registry-number] 0 / Neurofibromin 2

[Number-of-references] 43

   

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

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

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

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

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

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(PMID = 16094154.001).

[ISSN] 1524-4040

[Journal-full-title] Neurosurgery

[ISO-abbreviation] Neurosurgery

[Language] eng

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

[Publication-country] United States

   

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

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

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

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

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

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

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(PMID = 20405305.001).

[ISSN] 1573-7373

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

[ISO-abbreviation] J. Neurooncol.

[Language] eng

[Publication-type] Journal Article

[Publication-country] United States

   

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

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(PMID = 19388049.001).

[ISSN] 1469-896X

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

[ISO-abbreviation] Protein Sci.

[Language] ENG

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

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

[Publication-country] United States

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

[Other-IDs] NLM/ PMC2771306

   

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

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(PMID = 19333554.001).

[ISSN] 1573-7373

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

[ISO-abbreviation] J. Neurooncol.

[Language] ENG

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

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

[Publication-country] United States

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

   

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

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

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

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

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(PMID = 17360635.001).

[ISSN] 0027-8424

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

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

[Language] eng

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

[Publication-country] United States

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

[Other-IDs] NLM/ PMC1801999

   

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

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

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

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

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(PMID = 19922547.001).

[ISSN] 1750-3639

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

[ISO-abbreviation] Brain Pathol.

[Language] eng

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

[Publication-country] Switzerland

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

   

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

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

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

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

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

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

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

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

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

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

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(PMID = 17721192.001).

[ISSN] 0147-5185

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

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

[Language] eng

[Publication-type] Journal Article

[Publication-country] United States

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

   

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[Title] Neurofibromatosis type 2 in an infant with multiple plexiform schwannomas as first symptom.

Neurofibromatosis type 2 (NF2) is an autosomal dominant disorder that is caused by inactivating mutations or a loss of both alleles in the NF2 tumor-suppressor gene.

Bilateral vestibular schwannomas are considered to be the hallmark of this disease, with hearing loss and tinnitus which are caused by these tumors, usually presenting as the initial symptoms.

In addition to other tumors and ocular findings, skin abnormalities also occur in NF2, however, they are not so characteristic as neurofibromatosis type 1 (NF1).

We herein report a case of NF2 which occurred in a 5-year-old boy.

He had multiple cutaneous tumors but did not have any symptoms related to vestibular schwannomas.

A histopathological examination revealed these tumors to be plexiform schwannomas; we therefore suspected NF2.

As a result of magnetic resonance imaging with gadolinium enhancement, bilateral vestibular schwannomas were detected and a final diagnosis of NF2 was thus made.

The association between NF2 and multiple depigmented spots is unknown, we therefore consider that multiple cutaneous plexiform schwannomas may strongly suggest an association with NF2.

[MeSH-major] Neurilemmoma / pathology. Neurofibromatosis 2 / pathology. Skin Neoplasms / pathology

[MeSH-minor] Child, Preschool. Humans. Male. Neuroma, Acoustic / pathology

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(PMID = 17204104.001).

[ISSN] 0385-2407

[Journal-full-title] The Journal of dermatology

[ISO-abbreviation] J. Dermatol.

[Language] eng

[Publication-type] Case Reports; Journal Article

[Publication-country] Japan

   

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[Title] Linear accelerator radiosurgery for treatment of vestibular schwannomas in neurofibromatosis 2.

Management of vestibular schwannomas in patients with neurofibromatosis 2 (NF2) balances growth control against preservation of hearing with the primary aim of maintaining patient quality of life.

Previous studies on the efficacy of stereotactic radiosurgery for vestibular schwannomas in NF2 have reported results from delivery by Gamma Knife systems.

Modelling studies suggest that lesional conformality is superior with Gamma Knife, but clinical studies on sporadic vestibular schwannomas show equivalent results between the two systems.

Our experience with LINAC radiosurgery in NF2 reported here shows good long-term growth control in four patients with vestibular schwannomas.

[MeSH-major] Neurofibromatosis 2 / surgery. Neuroma, Acoustic / surgery. Radiosurgery / statistics & numerical data

[MeSH-minor] Adult. Brain Stem / pathology. Brain Stem / physiopathology. Brain Stem / surgery. Deafness / etiology. Deafness / physiopathology. Female. Humans. Magnetic Resonance Imaging. Male. Postoperative Complications / etiology. Postoperative Complications / physiopathology. Retrospective Studies. Treatment Outcome. Vestibular Nerve / pathology. Vestibular Nerve / physiopathology. Vestibular Nerve / radiation effects

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(PMID = 18403208.001).

[ISSN] 0967-5868

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

[ISO-abbreviation] J Clin Neurosci

[Language] eng

[Publication-type] Case Reports; Comparative Study; Journal Article

[Publication-country] Scotland

   

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

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

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

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

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

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

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

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

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

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

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

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

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

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(PMID = 17319281.001).

[ISSN] 0919-6544

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

[ISO-abbreviation] Neuropathology

[Language] eng

[Publication-type] Journal Article

[Publication-country] Australia

   

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

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

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

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(PMID = 20054297.001).

[ISSN] 1476-4687

[Journal-full-title] Nature

[ISO-abbreviation] Nature

[Language] eng

[Databank-accession-numbers] GEO/ GSE17895

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

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

[Publication-country] England

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

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

   

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

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

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

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(PMID = 19884346.001).

[ISSN] 1098-5549

[Journal-full-title] Molecular and cellular biology

[ISO-abbreviation] Mol. Cell. Biol.

[Language] ENG

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

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

[Publication-country] United States

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

[Other-IDs] NLM/ PMC2798298

   

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

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

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

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

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

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

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

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

(PMID = 16140520.001).

[ISSN] 0959-289X

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

[ISO-abbreviation] Int J Obstet Anesth

[Language] eng

[Publication-type] Case Reports; Journal Article

[Publication-country] Netherlands

   

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

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

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

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

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

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(PMID = 16980203.001).

[ISSN] 1521-690X

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

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

[Language] eng

[Publication-type] Journal Article; Review

[Publication-country] England

[Number-of-references] 70

   

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

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

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

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

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

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(PMID = 17327790.001).

[ISSN] 1524-4040

[Journal-full-title] Neurosurgery

[ISO-abbreviation] Neurosurgery

[Language] eng

[Publication-type] Clinical Trial; Journal Article

[Publication-country] United States

   

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

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

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

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

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

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

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

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

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

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

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

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(PMID = 16857415.001).

[ISSN] 1368-8375

[Journal-full-title] Oral oncology

[ISO-abbreviation] Oral Oncol.

[Language] eng

[Publication-type] Journal Article; Review

[Publication-country] England

[Number-of-references] 121

   

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[Title] Eyelid schwannoma in a male adult.

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

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

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(PMID = 16033357.001).

[ISSN] 1442-6404

[Journal-full-title] Clinical & experimental ophthalmology

[ISO-abbreviation] Clin. Experiment. Ophthalmol.

[Language] eng

[Publication-type] Case Reports; Journal Article

[Publication-country] Australia

   

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

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

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

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

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

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

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

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

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

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(PMID = 19249154.001).

[ISSN] 1872-6968

[Journal-full-title] Clinical neurology and neurosurgery

[ISO-abbreviation] Clin Neurol Neurosurg

[Language] eng

[Publication-type] Case Reports; Journal Article

[Publication-country] Netherlands

   

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

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

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

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(PMID = 18632626.001).

[ISSN] 1538-7445

[Journal-full-title] Cancer research

[ISO-abbreviation] Cancer Res.

[Language] ENG

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

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

[Publication-country] United States

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

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

   

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

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

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

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

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

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

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

CONCLUSION: Palpebral ptosis has rarely been reported in NF2.

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

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(PMID = 17347811.001).

[ISSN] 0721-832X

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

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

[Language] eng

[Publication-type] Case Reports; Journal Article

[Publication-country] Germany

   

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

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

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

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

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(PMID = 19084709.001).

[ISSN] 0151-9638

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

[ISO-abbreviation] Ann Dermatol Venereol

[Language] fre

[Publication-type] Journal Article

[Publication-country] France

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

   

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

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

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

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(PMID = 15192694.001).

[ISSN] 0950-222X

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

[ISO-abbreviation] Eye (Lond)

[Language] eng

[Publication-type] Case Reports; Letter

[Publication-country] England

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

   

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

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

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

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

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

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

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(PMID = 17320034.001).

[ISSN] 0003-438X

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

[ISO-abbreviation] Ann Otolaryngol Chir Cervicofac

[Language] fre

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

[Publication-country] France

   

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[Title] Neurofibromatosis.

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

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

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

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

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

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

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(PMID = 18039098.001).

[ISSN] 1553-4006

[Journal-full-title] Annual review of pathology

[ISO-abbreviation] Annu Rev Pathol

[Language] eng

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

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

[Publication-country] United States

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

[Number-of-references] 148

   

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

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

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

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

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

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

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(PMID = 18959258.001).

[ISSN] 1673-0860

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

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

[Language] chi

[Publication-type] English Abstract; Journal Article

[Publication-country] China

   

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

Only one patient probably has neurofibromatosis type 1.

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

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

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

However, sequencing of NF2 coding sequences revealed no mutations.

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

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(PMID = 15613855.001).

[ISSN] 0147-5185

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

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

[Language] eng

[Publication-type] Journal Article

[Publication-country] United States

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

   

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[Title] Mixed vestibular schwannoma and meningioma without neurofibromatosis.

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

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

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

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(PMID = 21048654.001).

[ISSN] 1319-6138

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

[ISO-abbreviation] Neurosciences (Riyadh)

[Language] eng

[Publication-type] Journal Article

[Publication-country] Saudi Arabia

   

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

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

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(PMID = 16391633.001).

[ISSN] 0008-4182

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

[ISO-abbreviation] Can. J. Ophthalmol.

[Language] ENG

[Publication-type] Journal Article

[Publication-country] England

   

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

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

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

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(PMID = 16458446.001).

[ISSN] 0360-3016

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

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

[Language] eng

[Publication-type] Journal Article

[Publication-country] United States

   

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

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

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

(PMID = 19864683.001).

[ISSN] 1533-4406

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

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

[Language] eng

[Publication-type] Comment; Letter

[Publication-country] United States

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

   

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

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

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

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(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] 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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(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