2,416 results match your criteria Neurofibromatosis Type 2


Efficacy and safety of Gamma knife radiosurgery for meningiomas in patients with neurofibromatosis Type 2: A long-term follow-up single center study.

World Neurosurg 2019 Feb 11. Epub 2019 Feb 11.

Department of Neurosurgery & Gamma Knife Center, Zhejiang Provincial People's Hospital & People's Hospital of Hangzhou Medical College, Hangzhou, Zhejiang, China. Electronic address:

Objective: To explore the efficacy and safety of Gamma Knife Radiosurgery (GKRS) for meningiomas in neurofibromatosis Type 2 (NF2) patients .

Methods: A series of 35 consecutive patients with 99 meningiomas in our department were retrospectively included from Jan 2000 to Dec 2015. Clinical records, MR image and follow-up data were reviewed. Read More

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http://dx.doi.org/10.1016/j.wneu.2019.01.211DOI Listing
February 2019

Auditory Brainstem Implants: Recent Progress and Future Perspectives.

Front Neurosci 2019 29;13:10. Epub 2019 Jan 29.

Department of Otolaryngology, Massachusetts Eye and Ear, Boston, MA, United States.

The auditory brainstem implant (ABI) was first developed nearly 40 years ago and provides auditory rehabilitation to patients who are deaf and ineligible for cochlear implant surgery due to abnormalities of the cochlea and cochlear nerve. The aims of the following review are to describe the history of the ABI and innovations leading up to the modern ABI system, as well as highlight areas of future development in implant design. Read More

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http://dx.doi.org/10.3389/fnins.2019.00010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6361749PMC
January 2019

Intraoperative Monitoring of the Cochlear Nerve during Neurofibromatosis Type-2 Vestibular Schwannoma Surgery and Description of a "Test Intracochlear Electrode".

J Neurol Surg Rep 2019 Jan 4;80(1):e1-e9. Epub 2019 Feb 4.

Cambridge Skull Base Unit, Cambridge University Hospitals NHS Foundation Trust, Cambridge, United Kingdom.

 A decision on whether to insert a cochlear implant can be made in neurofibromatosis 2 (NF2) if there is objective evidence of cochlear nerve (CN) function post vestibular schwannoma (VS) excision. We aimed to develop intraoperative CN monitoring to help in this decision.  We describe the intraoperative monitoring of a patient with NF2 and our stimulating and recording set up. Read More

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http://dx.doi.org/10.1055/s-0038-1673649DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6361632PMC
January 2019

Phase 0 trial investigating the intratumoural concentration and activity of sorafenib in neurofibromatosis type 2.

J Neurol Neurosurg Psychiatry 2019 Feb 4. Epub 2019 Feb 4.

Institute of Translational and Stratified Medicine, Plymouth University Peninsula Schools of Medicine and Dentistry, Plymouth, UK

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http://dx.doi.org/10.1136/jnnp-2018-319713DOI Listing
February 2019

Atypical teratoid rhabdoid tumor mimicking type II neurofibromatosis: A case report.

Medicine (Baltimore) 2019 Feb;98(5):e14308

Department of Neurological Surgery, Children's Hospital, Zhejiang University School of Medicine, China.

Rationale: Brain magnetic resonance imaging (MRI) images of atypical teratoid rhabdoid tumor (ATRT) often present heterogeneous signals of various cells without remarkable features of the disease. We describe a unique case of atypical brain MRI images presenting as an type II neurofibromatosis and explore some diagnostic hints.

Patient Concerns: A 1-year-and-7-month-old boy admitted to our department with a 7-day history of drowsiness and 2-day history of emesis, and his presenting complaint was repeated vomit. Read More

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http://dx.doi.org/10.1097/MD.0000000000014308DOI Listing
February 2019

Relationships Between Neurofibromatosis-2, Progesterone Receptor Expression, the Use of Exogenous Progesterone, and Risk of Orbitocranial Meningioma in Females.

Front Oncol 2018 9;8:651. Epub 2019 Jan 9.

Department of Histology and Cell Biology, Faculty of Medicine Public Health and Nursing, Universitas Gadjah Mada, Yogyakarta, Indonesia.

The pathogenesis of meningioma in females and its association with exogenous progesterone is remained unclear. This study was aimed to examine expression of Progesterone receptor (PR) and Neurofibromatosis-2 () and assess their relationships to history of exogenous progesterone use and risk of meningioma. Our study was a case-control study that involves 115 females, 40 cases who diagnosed with orbito-cranial meningioma and 75 controls of healthy, that has been presented in previous study. Read More

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http://dx.doi.org/10.3389/fonc.2018.00651DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6338020PMC
January 2019
1 Read

Pediatric laryngeal electromyography technique for vocal fold immobility using bipolar double hookwire electrodes.

Int J Pediatr Otorhinolaryngol 2019 Jan 18;119:75-78. Epub 2019 Jan 18.

Department of Otolaryngology-Head and Neck Surgery, Massachusetts Eye & Ear Infirmary, Boston, MA, USA; Department of Otology & Laryngology, Harvard Medical School, Boston, MA, USA. Electronic address:

Vocal fold immobility (VFI) is a common cause of dysphonia and dysphagia in children. Laryngeal electromyography (LEMG) is an important adjunctive test in its diagnosis and treatment. In this study, we present an alternative technique in which bipolar double hookwire electrodes allow simultaneous placement and recordings from the bilateral thyroarytenoid and posterior cricoarytenoid muscles. Read More

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http://dx.doi.org/10.1016/j.ijporl.2019.01.021DOI Listing
January 2019
1 Read

Report on a child with neurofibromatosis type 2 and unilateral moyamoya: further evidence of cerebral vasculopathy in NF2.

Neurol Sci 2019 Jan 21. Epub 2019 Jan 21.

Referral Centre of Neurofibromatosis, Department of Woman and Child, Specialistic and General Surgery, Università degli Studi della Campania "Luigi Vanvitelli", Via L. De Crecchio 4, 80138, Naples, Italy.

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http://dx.doi.org/10.1007/s10072-019-3728-8DOI Listing
January 2019
1 Read

Long-term therapy with bevacizumab in a young patient affected by NF-2: a case report and review of the literature.

Anticancer Drugs 2019 Mar;30(3):318-321

Department of Medical Oncology, ASST-Settelaghi, Circolo's Hospital, Varese, Italy.

Neurofibromatosis type 2 (NF-2) is an autosomal dominant inherited disease caused by heterozygous mutations in the NF-2 tumor suppressor gene. It is characterized by the development of multiple benign tumors in the central nervous system. A majority of these tumors can be treated with surgery or radiotherapy in the case of the symptomatic disease. Read More

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http://dx.doi.org/10.1097/CAD.0000000000000732DOI Listing
March 2019
1 Read

Pediatric intracranial lower cranial nerve schwannoma unassociated with neurofibromatosis type 2: case report and review of the literature.

Childs Nerv Syst 2019 Jan 13. Epub 2019 Jan 13.

Division of Neurosurgery, National Center for Child Health and Development, Okura 2-10-1, Setagaya-ku, Tokyo, 157-8535, Japan.

Introduction: Pediatric schwannomas are rare, and most of them are associated with neurofibromatosis type 2 (NF2) and usually located in the vestibular nerve. Herein, we present the first pediatric case of intracranial schwannoma derived from the IX/X nerve complex unrelated to NF2.

Case Report: The patient was a 9-year-old boy who presented with a 3-month history of headache and nausea. Read More

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http://dx.doi.org/10.1007/s00381-018-04045-4DOI Listing
January 2019
1 Read

Linked-read Sequencing Analysis Reveals Tumor-specific Genome Variation Landscapes in Neurofibromatosis Type 2 (NF2) Patients.

Otol Neurotol 2019 Feb;40(2):e150-e159

The Jackson Laboratory for Genomic Medicine, Farmington, Connecticut.

Hypothesis: We hypothesize that genomic variants including deletions, insertions, inversions, and tandem duplications beyond the changes in tumor suppressor NF2 gene affect gene expression of tumor-specific pathways in vestibular schwannomas (VS) patients with Neurofibromatosis type 2 (NF2), thus contributing to their clinical behavior.

Background: Genomic variation could reconfigure transcription in NF2 transformation process. Therefore, genome-wide high-resolution characterization of structural variants (SV) landscapes in NF2 tumors can expand our understanding of the genes regulating the clinical phenotypes in NF2-associated VS. Read More

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http://dx.doi.org/10.1097/MAO.0000000000002096DOI Listing
February 2019
1 Read
1.598 Impact Factor

Schwannoma gene therapy by adeno-associated virus delivery of the pore-forming protein Gasdermin-D.

Cancer Gene Ther 2019 Jan 9. Epub 2019 Jan 9.

Department of Anesthesiology, Critical Care, and Pain Medicine, Massachusetts General Hospital, Harvard Medical School, Boston, MA, 02114, USA.

Schwannomas are peripheral nerve sheath tumors associated with three genetically distinct disease entities, namely sporadic schwannoma, neurofibromatosis type-2, and schwannomatosis. Schwannomas are associated with severe disability and in cases lead to death. The primary treatment is operative resection that itself can cause neurologic damage and is at times contra-indicated due to tumor location. Read More

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http://dx.doi.org/10.1038/s41417-018-0077-3DOI Listing
January 2019

Preclinical Assessment of MEK1/2 Inhibitors for Neurofibromatosis Type 2-Associated Schwannomas Reveal Differences in Efficacy and Drug Resistance Development.

Neuro Oncol 2019 Jan 6. Epub 2019 Jan 6.

Burnett School of Biomedical Sciences, College of Medicine, University of Central Florida, Orlando, Florida.

Background: Neurofibromatosis type 2 (NF2) is a genetic tumor-predisposition disorder caused by NF2/merlin tumor suppressor gene inactivation. The hallmark of NF2 is formation of bilateral vestibular schwannomas (VS). Because merlin modulates activity of the Ras/Raf/MEK/ERK pathway, we investigated repurposing drugs targeting MEK1/2 as a treatment for NF2-associated schwannomas. Read More

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https://academic.oup.com/neuro-oncology/advance-article/doi/
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http://dx.doi.org/10.1093/neuonc/noz002DOI Listing
January 2019
5 Reads
5.562 Impact Factor

A challenging case of laparoscopic synchronous bilateral adrenalectomy for Cushing's disease. Case report.

Ann Med Surg (Lond) 2018 Dec 8;36:261-263. Epub 2018 Sep 8.

University-Hospital of Parma, Department of Urology, Via Gramsci 14, Parma, 43126, Italy.

Introduction: Laparoscopic adrenalectomy is a treatment option in patients with Cushing's syndrome. Preoperative comorbities as well as surgical and anesthesiological difficulties can make the procedure challenging.

Presentation Of The Case: We present the case of a 53-year-old obese man diagnosed with Cushing's syndrome, also suffering from other endocrine pathologies, neurofibromatosis type 2, cardiomiopathy with severe hypertrophy and diastolic dysfunction, deep vein thrombosis (DVT) and obstructive sleep apnea syndrome (OSAS). Read More

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http://dx.doi.org/10.1016/j.amsu.2018.07.015DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6287572PMC
December 2018
1 Read

Brief report on similar mutational changes in neurofibromatosis type 2 gene in minute pulmonary meningothelial-like nodule and meningioma of the central nervous system.

Oncotarget 2018 Nov 13;9(89):36012-36016. Epub 2018 Nov 13.

Department of Chest Surgery, Fukushima Medical University School of Medicine, Fukushima 960-1295, Japan.

Introduction: Minute Pulmonary Meningothelial-like Nodules (MPMNs) are usually detected incidentally adjacent to lung cancer tissue. The pathogenesis is unknown. MPMNs reportedly share the status of neurofibromatosis (NF)-2 gene with meningiomas of the central nervous system. Read More

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http://dx.doi.org/10.18632/oncotarget.26325DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6267606PMC
November 2018

Perioperative Recording of Cochlear Implant Evoked Brain Stem Responses After Removal of the Intralabyrinthine Portion of a Vestibular Schwannoma in a Patient with NF2.

Otol Neurotol 2019 Jan;40(1):e20-e24

Department of Otorhinolaryngology, Head and Neck Surgery, Martin Luther University Halle-Wittenberg, University Medicine Halle, Germany.

Objective: To predict and optimize hearing outcomes with a cochlear implant (CI) in patients with intracochlear schwannoma and neurofibromatosis type 2 (NF2).

Patient: A patient with NF2 and bilateral deafness.

Interventions: The intracochlear portion of a vestibular schwannoma was removed with a partial cochleoectomy. Read More

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http://dx.doi.org/10.1097/MAO.0000000000002056DOI Listing
January 2019
2 Reads

Identifying the deficiencies of current diagnostic criteria for neurofibromatosis 2 using databases of 2777 individuals with molecular testing.

Genet Med 2018 Dec 7. Epub 2018 Dec 7.

Department of Genomic Medicine, St Mary's Hospital, Manchester Academic Health Sciences Centre (MAHSC), Division of Evolution and Genomic Science, University of Manchester, Manchester, UK.

Purpose: We have evaluated deficiencies in existing diagnostic criteria for neurofibromatosis 2 (NF2).

Methods: Two large databases of individuals fulfilling NF2 criteria (n = 1361) and those tested for NF2 variants with criteria short of diagnosis (n = 1416) were interrogated. We assessed the proportions meeting each diagnostic criterion with constitutional or mosaic NF2 variants and the positive predictive value (PPV) with regard to definite diagnosis. Read More

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http://dx.doi.org/10.1038/s41436-018-0384-yDOI Listing
December 2018
3 Reads
7.329 Impact Factor

Optic nerve sheath meningiomas: prevalence, impact, and management strategies.

Eye Brain 2018 24;10:85-99. Epub 2018 Oct 24.

Sydney Medical School, Discipline of Clinical Ophthalmology and Eye Health, University of Sydney, Sydney, NSW, Australia,

Optic nerve sheath meningiomas are rare benign neoplasms of the meninges surrounding the optic nerve. They are a significant cause of morbidity. While the mortality rate is practically zero, these tumors can blind or disfigure patients. Read More

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http://dx.doi.org/10.2147/EB.S144345DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6207092PMC
October 2018
1 Read

Imaging Findings in Syndromes with Temporal Bone Abnormalities.

Neuroimaging Clin N Am 2019 Feb 29;29(1):117-128. Epub 2018 Oct 29.

Department of Radiology, University of Chicago, Pritzker School of Medicine, 5841 South Maryland Avenue, Chicago, IL 60637, USA. Electronic address:

There is a wide variety of congenital syndromes that can involve the temporal bone. Many of these have overlapping features due to common embryologic abnormalities, such as first and second branchial anomalies. Diagnostic imaging is often important in the workup of hearing deficits related to congenital syndromes. Read More

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http://dx.doi.org/10.1016/j.nic.2018.08.004DOI Listing
February 2019
13 Reads

Progression of hearing loss in neurofibromatosis type 2 according to genetic severity.

Laryngoscope 2018 Nov 19. Epub 2018 Nov 19.

Oxford NF2 Unit, Neurosciences, Oxford, United Kingdom.

Objectives/hypothesis: This study set out to describe the progression of hearing loss in patients with neurofibromatosis type 2 (NF2), treated in a quaternary multidisciplinary clinic. It also aimed to compare hearing loss across patients grouped according to a known genetic severity score to explore its utility for prognostication.

Study Design: Retrospective cohort study. Read More

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http://doi.wiley.com/10.1002/lary.27586
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http://dx.doi.org/10.1002/lary.27586DOI Listing
November 2018
10 Reads

Revision Surgery for Vestibular Schwannomas.

J Neurol Surg B Skull Base 2018 Dec 9;79(6):528-532. Epub 2018 Apr 9.

House Clinic, Los Angeles, California, United States.

 To describe clinical outcomes of patients undergoing revision surgery for vestibular schwannomas.  Retrospective case series.  Tertiary private neurotologic practice. Read More

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http://www.thieme-connect.de/DOI/DOI?10.1055/s-0038-1635256
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http://dx.doi.org/10.1055/s-0038-1635256DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6239869PMC
December 2018
13 Reads

A case of neurofibromatosis type 2 (NF2) with classic imaging and skin findings.

Med J Armed Forces India 2018 Oct 5;74(4):407-409. Epub 2017 Oct 5.

Classified Specialist (ENT), Command Hospital (Central Command), Lucknow, India.

Neurofibromatosis is a neurocutaneous, tumor predisposing, inheritable disorder characterized by tumors of the brain and spine and the presence of skin lesions. The most important tumors associated with neurofibromatosis are vestibular nerve schwannomas, with others being meningiomas and ependymomas. The cord is also affected by tumors, ependymoma being the commonest, besides meningiomas and schwannomas. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S03771237173112
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http://dx.doi.org/10.1016/j.mjafi.2017.07.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6224702PMC
October 2018
12 Reads

Genetic Evaluation of Common Neurocutaneous Syndromes.

Pediatr Neurol 2018 Dec 10;89:3-10. Epub 2018 Aug 10.

Department of Pediatric Genetics, Dokuz Eylül University Medical School, Izmir, Turkey.

The neurocutaneous syndromes are a group of multisystem disorders that affect the skin and central nervous system. Neurofibromatosis 1, neurofibromatosis 2, tuberous sclerosis complex, and Sturge-Weber syndrome are the four major neurocutaneous disorders that mainly present in childhood. In this review, we discuss the clinical findings and genetic diagnosis, related genes/pathways and genotype-phenotype correlations of these four neurocutaneous syndromes. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S08878994183033
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http://dx.doi.org/10.1016/j.pediatrneurol.2018.08.006DOI Listing
December 2018
8 Reads

Somatic SMARCB1 Mutation in Sporadic Multiple Meningiomas: Case Report.

Front Neurol 2018 26;9:919. Epub 2018 Oct 26.

Department of Pathology and Laboratory Medicine, University of California-Irvine Medical Center, Orange, CA, United States.

Multiple intracranial meningiomas account for <10% of all meningiomas. Familial multiple meningiomas have been linked to germline mutations in two genes: (NF2) and (SMARCB1). Sporadic multiple meningiomas have been associated with somatic NF2 mutations and, to date, there has been no case related to somatic SMARCB1 mutations. Read More

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https://www.frontiersin.org/article/10.3389/fneur.2018.00919
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http://dx.doi.org/10.3389/fneur.2018.00919DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6212508PMC
October 2018
8 Reads

Plexiform Schwannoma of the Tongue in a Pediatric Patient with Neurofibromatosis Type 2: A Case Report and Review of Literature.

Case Rep Pathol 2018 15;2018:9814591. Epub 2018 Oct 15.

Department of Pathology, The University of Texas Medical Branch, Galveston, TX 77555, USA.

Introduction: Plexiform schwannoma is a rare variant of schwannoma that accounts for only 5% of all schwannomas. Herein, we present a rare case of plexiform schwannoma of the tongue in a pediatric patient with neurofibromatosis type 2 (NF2).

Case Presentation: A 13-year-old female presented with a growing left-sided tongue mass. Read More

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https://www.hindawi.com/journals/cripa/2018/9814591/
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http://dx.doi.org/10.1155/2018/9814591DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6205313PMC
October 2018
10 Reads

Malignant peripheral nerve sheath tumor: Transformation in a patient with neurofibromatosis type 2.

Pediatr Blood Cancer 2019 Feb 8;66(2):e27520. Epub 2018 Nov 8.

Cancer and Blood Diseases Institute, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio.

Malignant peripheral nerve sheath tumor (MPNST) is a rare soft-tissue sarcoma with an unfavorable prognosis and limited therapeutic options. MPNSTs can be sporadic, but are often associated with neurofibromatosis (NF) 1 and usually arise from preexisting neurofibromas. MPNSTs in patients with NF2 have been reported in only exceedingly rare cases, and the mechanisms underlying transformation into an MPNST have not been fully elucidated. Read More

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http://dx.doi.org/10.1002/pbc.27520DOI Listing
February 2019
1 Read

Management of Vestibular Schwannoma (Including NF2): Facial Nerve Considerations.

Otolaryngol Clin North Am 2018 Dec;51(6):1193-1212

Department of Otolaryngology-Head and Neck Surgery, Icahn School of Medicine at Mount Sinai, New York Eye and Ear of Mount Sinai, Floor 6, 310 East 14th Street, New York, NY 10003, USA. Electronic address:

Current consensus on optimal treatment of vestibular schwannoma remains poorly established; treatment options include observation, stereotactic radiosurgery, microsurgical resection, medical therapy, or a combination of these. Treatment should be individualized and incorporate the multitude of patient- and tumor-specific characteristics known to affect outcome. Treatment paradigms for sporadic and neurofibromatosis type 2-related tumors are distinct and decision-making in neurofibromatosis type 2 is uniquely challenging. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S00306665183013
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http://dx.doi.org/10.1016/j.otc.2018.07.015DOI Listing
December 2018
8 Reads

Bevacizumab for Hearing Preservation in Neurofibromatosis Type 2: Emphasis on Patient-Reported Outcomes and Toxicities.

Otolaryngol Head Neck Surg 2018 Oct 30:194599818809085. Epub 2018 Oct 30.

1 Department of Pediatric Hematology/Oncology, University of Minnesota, Minneapolis, Minnesota, USA.

Objective: Bevacizumab for hearing preservation in patients with neurofibromatosis type 2 (NF2) is an emerging practice. We set out to characterize the effectiveness and toxicity of bevacizumab in our patient group.

Study Design: Case series with chart review. Read More

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http://journals.sagepub.com/doi/10.1177/0194599818809085
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http://dx.doi.org/10.1177/0194599818809085DOI Listing
October 2018
16 Reads

Intra-Orbital Meningioma Causing Loss of Vision in Neurofibromatosis Type 2: Case Series and Management Considerations.

Front Surg 2018 9;5:60. Epub 2018 Oct 9.

Department of Radiology, USC Keck School of Medicine, Los Angeles, CA, United States.

Little evidence exists regarding the management of orbital meningioma causing vision loss in the setting of neurofibromatosis Type 2 (NF2). We review here our experience with patients at risk for blindness due to intra-orbital meningioma. The charts of patients with NF2 presenting for evaluation of intra-orbital meningioma and vision impairment between 2008 and 2013 were retrospectively reviewed in accordance with institutional IRB policies. Read More

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https://www.frontiersin.org/article/10.3389/fsurg.2018.00060
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http://dx.doi.org/10.3389/fsurg.2018.00060DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6189417PMC
October 2018
8 Reads

A proteasome-resistant fragment of NIK mediates oncogenic NF-κB signaling in schwannomas.

Hum Mol Genet 2019 Feb;28(4):572-583

Herman B Wells Center for Pediatric Research, Department of Pediatrics, Indiana University School of Medicine, Indianapolis, IN, USA.

Schwannomas are common, highly morbid and medically untreatable tumors that can arise in patients with germ line as well as somatic mutations in neurofibromatosis type 2 (NF2). These mutations most commonly result in the loss of function of the NF2-encoded protein, Merlin. Little is known about how Merlin functions endogenously as a tumor suppressor and how its loss leads to oncogenic transformation in Schwann cells (SCs). Read More

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http://dx.doi.org/10.1093/hmg/ddy361DOI Listing
February 2019
3 Reads
6.393 Impact Factor

Familial unilateral vestibular schwannoma is rarely caused by inherited variants in the NF2 gene.

Laryngoscope 2018 Oct 16. Epub 2018 Oct 16.

Department of Genomic Medicine, Manchester, United Kingdom.

Objectives/hypothesis: Unilateral vestibular schwannoma (VS) occurs with a lifetime risk of around 1 in 1,000 and is due to inactivation of the NF2 gene, either somatically or from a constitutional mutation. It has been postulated that familial occurrence of unilateral VS occurs more frequently than by chance, but no causal mechanism has been confirmed.

Study Design: Retrospective database analysis. Read More

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http://dx.doi.org/10.1002/lary.27554DOI Listing
October 2018
2 Reads
2.032 Impact Factor

Neurofibromatosis type 2: Hearing preservation and rehabilitation.

Neurochirurgie 2018 Nov 9;64(5):348-354. Epub 2018 Oct 9.

Inserm, UMRS 1159, "unité de réhabilitation chirurgicale mini-invasive robotisée de l'audition", Sorbonne Universités, université Pierre et Marie-Curie Paris 6, 75013 Paris, France; CMR neurofibromatosis type 2, GHU Pitié Salpêtrière, AP-HP, 75651 Paris, France; Service d'ORL, otologie, implants auditifs et chirurgie de la base du crâne, GHU Pitié Salpêtrière, AP-HP, 75651 Paris, France.

The main manifestation of neurofibromatosis type 2 (NF2) is the development of bilateral vestibular schwannomas (VS). Consequently, one of the most severe functional sequelae is bilateral sensorineural hearing loss, caused by spontaneous tumor progression and/or treatment-related damage (surgery or radiosurgery). Preserving or restoring hearing is still challenging in NF2 no matter the strategy applied to each individual based on the natural history of VS. Read More

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http://dx.doi.org/10.1016/j.neuchi.2018.09.003DOI Listing
November 2018
1 Read

Bilateral Vestibular Schwannomas in Neurofibromatosis Type 2.

N Engl J Med 2018 Oct;379(15):1463

Stanford University, Stanford, CA.

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http://www.nejm.org/doi/10.1056/NEJMicm1804944
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http://dx.doi.org/10.1056/NEJMicm1804944DOI Listing
October 2018
4 Reads

Pediatric Spinal Ependymomas.

Med Sci Monit 2018 Oct 5;24:7072-7089. Epub 2018 Oct 5.

Department of Neurosurgery, Bezmialem Vakif University, Istanbul, Turkey.

BACKGROUND The aim of this study was to assess the clinical and radiological outcomes of surgical treatment for primary spinal ependymoma in children. MATERIAL AND METHODS Medical records of 46 primary spinal ependymoma patients who underwent surgery in BRSHH hospital during a 12-year period from 2004 to 2015 were retrospectively reviewed. All pediatric patients (patient age <18 years) were selected as the core sample used for this study. Read More

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https://www.medscimonit.com/abstract/index/idArt/910447
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http://dx.doi.org/10.12659/MSM.910447DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6186154PMC
October 2018
5 Reads

Synergistic effect of Nutlin-3 combined with MG-132 on schwannoma cells through restoration of merlin and p53 tumour suppressors.

EBioMedicine 2018 Oct 28;36:252-265. Epub 2018 Sep 28.

Department of Otolaryngology Head & Neck Surgery, The Ninth People's Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China; Ear Institute, School of Medicine, Shanghai Jiao Tong University, Shanghai, China; Shanghai Key Laboratory of Translational Medicine on Ear and Nose Diseases, Shanghai, China. Electronic address:

Background: The great majority of sporadic vestibular schwannomas (VSs) are due to the mutations of the NF2 gene encoding merlin. Sporadic VSs exhibit variable growth patterns and only a small fraction of the tumours are fast-growing; however, the underlying mechanisms remain undefined.

Methods: DNA sequencing and dosage analysis were used to identify the NF2 mutation status in sporadic schwannomas. Read More

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http://dx.doi.org/10.1016/j.ebiom.2018.09.042DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6197711PMC
October 2018
3 Reads

Hemihypoglossal-Facial Nerve Anastomosis for Facial Nerve Reanimation: Case Series and Technical Note.

World Neurosurg 2018 Oct 4;118:e460-e467. Epub 2018 Jul 4.

Department of Neurosurgery, Medical University of Warsaw, Poland.

Background: Hypoglossal nerve injury may result in swallowing and speech problems. To reduce this morbidity and allow the performance of the hypoglossal-facial nerve anastomosis bilaterally, a technique that includes partial splitting of the hypoglossal nerve and skeletonization of the facial nerve within the mastoid process has been applied. The aim of this study is to present clinical results regarding the facial and hypoglossal nerves after the procedure. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S18788750183143
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http://dx.doi.org/10.1016/j.wneu.2018.06.217DOI Listing
October 2018
6 Reads

Cerebrovascular Insult as Presenting Symptom of Neurofibromatosis Type 2 in Children, Adolescents, and Young Adults.

Front Neurol 2018 10;9:733. Epub 2018 Sep 10.

Department of Neurosurgery, University Hospital Tübingen, Tübingen, Germany.

Neurofibromatosis Type 2 (NF2) is an autosomal-dominant tumor-prone disorder characterized by the manifestations of central nervous system lesions. However, the first clinical signs of disease are often non-tumorous. Cerebrovascular insults are known in NF2, however, not yet described as first symptom in young NF2 patients. Read More

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http://dx.doi.org/10.3389/fneur.2018.00733DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6139325PMC
September 2018
15 Reads

Long-Term Hearing Outcomes Following Stereotactic Radiosurgery in Vestibular Schwannoma Patients-A Retrospective Cohort Study.

Neurosurgery 2018 Sep 20. Epub 2018 Sep 20.

Department of Otolaryngology, Head and Neck Surgery, Stanford University, Palo Alto, California.

Background: An understanding of the hearing outcomes is needed for treatment counseling for patients with vestibular schwannomas (VS).

Objective: To determine long-term hearing results following stereotactic radiosurgery (SRS) for VS and identify any influential variables.

Methods: Tertiary hospital retrospective cohort. Read More

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https://academic.oup.com/neurosurgery/advance-article/doi/10
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http://dx.doi.org/10.1093/neuros/nyy407DOI Listing
September 2018
4 Reads

Neurofibromatosis type 2: A challenge for the neurosurgical medical community.

Authors:
M Kalamarides

Neurochirurgie 2018 Nov 19;64(5):333-334. Epub 2018 Sep 19.

Service de neurochirurgie & centre de référence NF2, hôpital Pitié-Salpêtrière, AP-HP, 75013 Paris, France; Sorbonne université Paris, 75013 Paris, France; Inserm U1127, ICM, hôpital Pitié-Salpêtrière, 75013 Paris, France. Electronic address:

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http://dx.doi.org/10.1016/j.neuchi.2018.09.001DOI Listing
November 2018

Impact of cochlear implantation on the management strategy of patients with neurofibromatosis type 2.

Eur Arch Otorhinolaryngol 2018 Nov 18;275(11):2667-2674. Epub 2018 Sep 18.

Department of Otolaryngology Head and Neck Surgery, Shanghai Ninth People's Hospital, School of Medicine, Shanghai Jiaotong University, No 639 Zhizaoju Road, Shanghai, 200011, China.

Purpose: To investigate the outcomes of cochlear implantation in patients with neurofibromatosis type 2 (NF2), and to discuss the current management strategy for NF2 patients.

Methods: The medical records of NF2 patients who received cochlear implants (CI) at our center between 2012 and 2016 were retrospectively reviewed. Pre-operative hearing status, tumor status, treatment of tumors, and auditory outcomes post-implantation were evaluated. Read More

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http://dx.doi.org/10.1007/s00405-018-5127-9DOI Listing
November 2018
4 Reads

Demographical Profile and Spectrum of Multiple Malignancies in Children and Adults with Neurocutaneous Disorders.

Anticancer Res 2018 Sep;38(9):5453-5457

Department of Pediatric Hematology and Oncology, Nicolaus Copernicus University Torun, Jurasz University Hospital, Collegium Medicum, Bydgoszcz, Poland

Background/aim: Neurocutaneous disorders, also referred as phacomatoses, are congenital disorders manifesting at different ages with central nervous system and cutaneous abnormalities. Analysis of the demographic and clinical profile of patients with phacomatoses in the context of the incidence and spectrum of malignancy.

Materials And Methods: This is a retrospective analysis of 20 years of data in a single-center study in Poland. Read More

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http://ar.iiarjournals.org/lookup/doi/10.21873/anticanres.12
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http://dx.doi.org/10.21873/anticanres.12877DOI Listing
September 2018
16 Reads

Increasing access to specialty care for rare diseases: a case study using a foundation sponsored clinic network for patients with neurofibromatosis 1, neurofibromatosis 2, and schwannomatosis.

BMC Health Serv Res 2018 Aug 29;18(1):668. Epub 2018 Aug 29.

Department of Neurology and Cancer Center, Massachusetts General Hospital, 55 Fruit Street, Boston, MA, 02114, USA.

Background: Our primary aim was to assess the ability of a non-profit foundation-sponsored clinic network to facilitate access to specialized care for patients with neurofibromatoses (NF), a group of neurogenetic disorders including NF1, NF2, and schwannomatosis (SWN). Our secondary aim was to identify how our findings in NF could be applied more broadly to other rare diseases.

Methods: We retrospectively reviewed aggregate data on patient volume reported by specialty NF clinics in a nonprofit network from 2008 to 2015. Read More

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http://dx.doi.org/10.1186/s12913-018-3471-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6114484PMC
August 2018
5 Reads

Did Cro-Magnon 1 have neurofibromatosis type 2? - Authors' reply.

Lancet 2018 08;392(10148):633

Section of Human Paleontology, Department of Prehistory, National Museum of Natural History, Musée de l'Homme, Paris, France.

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http://dx.doi.org/10.1016/S0140-6736(18)31546-0DOI Listing
August 2018
13 Reads

Did Cro-Magnon 1 have neurofibromatosis type 2?

Lancet 2018 08;392(10148):632-633

National Centre for Rare Diseases, Istituto Superiore di Sanità, Rome, Italy.

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http://dx.doi.org/10.1016/S0140-6736(18)31544-7DOI Listing
August 2018
2 Reads

Cerebrospinal Fluid Hyaluronan and Neurofibromatosis Type 2.

Cancer Microenviron 2018 Dec 25;11(2-3):125-133. Epub 2018 Aug 25.

Department of Neurosurgery, Amrita Institute of Medical Sciences, Amrita Vishwa Vidyapeetham, Ponekkara P.O, Kochi, 682041, India.

Neurofibromatosis type 2 (NF-2) is associated with mainly three types of recurrent benign tumors restricted to the central nervous system: schwannoma, meningioma and ependymoma. The absence of the protein NF2/Merlin causes an uninterrupted cell proliferation cascade originating from an abnormal interaction between an extracellular mucopolysaccharide, hyaluronan (HA), and schwann cell surface CD44 receptor, which has been identified as one of the central causative factors for schwannoma. Most tumors in NF-2 have a predilection to originate from either arachnoid cap cells or schwann cells of the cisternal portion of nerve rootlets that share a continuous exposure to cerebrospinal fluid (CSF). Read More

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http://link.springer.com/10.1007/s12307-018-0216-2
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http://dx.doi.org/10.1007/s12307-018-0216-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6250613PMC
December 2018
14 Reads

Merlin/ERM proteins regulate growth factor-induced macropinocytosis and receptor recycling by organizing the plasma membrane:cytoskeleton interface.

Genes Dev 2018 09 24;32(17-18):1201-1214. Epub 2018 Aug 24.

Massachusetts General Hospital Cancer Center, Harvard Medical School, Charlestown, Massachusetts 02129, USA.

The architectural and biochemical features of the plasma membrane are governed by its intimate association with the underlying cortical cytoskeleton. The neurofibromatosis type 2 (NF2) tumor suppressor merlin and closely related membrane:cytoskeleton-linking protein ezrin organize the membrane:cytoskeleton interface, a critical cellular compartment that both regulates and is regulated by growth factor receptors. An example of this poorly understood interrelationship is macropinocytosis, an ancient process of nutrient uptake and membrane remodeling that can both be triggered by growth factors and manage receptor availability. Read More

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http://dx.doi.org/10.1101/gad.317354.118DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6120716PMC
September 2018
1 Read

Loss of NF2 Induces TGFβ Receptor 1-mediated Noncanonical and Oncogenic TGFβ Signaling: Implication of the Therapeutic Effect of TGFβ Receptor 1 Inhibitor on NF2 Syndrome.

Mol Cancer Ther 2018 Nov 22;17(11):2271-2284. Epub 2018 Aug 22.

Department of Molecular Biology, College of Natural Science, Pusan National University, Busan, Republic of Korea.

Neurofibromatosis type 2 (NF2) syndrome is a very rare human genetic disease, and there has been no proper treatment for it until now. In our recent study, it has been reported that the loss of NF2 activates MAPK signaling through reduction of RKIP in a mesothelioma model. Here, we show that loss of NF2 induces reduction of the TGFβ receptor 2 (TβR2) expression, and an overwhelming expression of TGFβ receptor 1 (TβR1) is activated by physical stimuli such as pressure or heavy materials. Read More

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http://dx.doi.org/10.1158/1535-7163.MCT-17-1210DOI Listing
November 2018
3 Reads

A Surprising Cause of Epilepsy: Whole Exome Sequencing in a Child With Focal Cortical Dysplasia Identifies Neurofibromatosis Type 2.

Pediatr Neurol 2018 Aug 4;85:79-81. Epub 2018 Jun 4.

Department of Radiology, Neurology, BC Children's Hospital, University of British Columbia, Vancouver, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.pediatrneurol.2018.05.006DOI Listing
August 2018
1 Read

Multiple cranial nerve schwannomas and meningiomas as a hallmark sign of neurofibromatosis type 2 in a child.

Turk J Pediatr 2018 ;60(1):107-110

Department of Radiology, Sisli Hamidiye Etfal Training and Research Hospital, Sisli, Istanbul, Turkey.

Halefoğlu AM. Multiple cranial nerve schwannomas and meningiomas as a hallmark sign of neurofibromatosis type 2 in a child. Turk J Pediatr 2018; 60: 107-110. Read More

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http://dx.doi.org/10.24953/turkjped.2018.01.018DOI Listing
January 2019
11 Reads

[The impact of hormonal factors in meningioma development].

Ugeskr Laeger 2018 Aug;180(33)

Meningioma is the most common extra-axial, intracranial tumour. The incidence is 5/100,000 persons per year with a female:male ratio of 2:1. Only two predisposing factors have been identified: neurofibromatosis type 2 and ionising radiation. Read More

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August 2018
7 Reads