2,431 results match your criteria Neurofibromatosis Type 2


Trends in phenotype in the English paediatric Neurofibromatosis Type 2 cohort stratified by genetic severity.

Clin Genet 2019 Apr 16. Epub 2019 Apr 16.

Oxford NF2 Unit, Oxford University Hospitals NHS Foundation Trust.

Childhood onset neurofibromatosis type 2 can be severe and genotype dependent. We present a retrospective phenotypic analysis of all ascertained children in England Read More

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https://onlinelibrary.wiley.com/doi/abs/10.1111/cge.13551
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http://dx.doi.org/10.1111/cge.13551DOI Listing
April 2019
1 Read

Auditory Brainstem Implantation: An Overview.

J Neurol Surg B Skull Base 2019 Apr 14;80(2):203-208. Epub 2019 Feb 14.

Department of Otolaryngology-Head and Neck Surgery, New York University School of Medicine, New York, New York, United States.

An auditory brainstem implant (ABI) is a surgically implanted central neural auditory prosthesis for the treatment of profound sensorineural hearing loss in children and adults who are not cochlear implant candidates due to a lack of anatomically intact cochlear nerves or implantable cochleae. The device consists of a multielectrode surface array which is placed within the lateral recess of the fourth ventricle along the brainstem and directly stimulates the cochlear nucleus, thereby bypassing the peripheral auditory system. In the United States, candidacy criteria for ABI include deaf patients with neurofibromatosis type 2 (NF2) who are 12 years or older undergoing first- or second-side vestibular schwannoma resection. Read More

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http://dx.doi.org/10.1055/s-0039-1679891DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6438789PMC
April 2019
2 Reads

Cervical Lymph Node Schwannoma-An Unexpected Diagnosis.

Clin Pathol 2019 Jan-Dec;12:2632010X19829239. Epub 2019 Feb 27.

Department of Endocrinology, Diabetes and Metabolism, Santa Maria Hospital, Lisbon, Portugal.

Introduction: Schwannomas-Schwann cells-originating tumors-may develop in many locations. However, primary schwannomas arising within lymph nodes are extremely rare, with only a few cases described to this date in the English literature. For the intranodal location, most of the cases are described in the abdominal cavity. Read More

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http://dx.doi.org/10.1177/2632010X19829239DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6429639PMC
February 2019
1 Read

Oral plexiform schwannoma: A case report and relevant immunohistochemical investigation.

SAGE Open Med Case Rep 2019 19;7:2050313X19838184. Epub 2019 Mar 19.

Pôle d'Odontologie, Hôpital Maison Blanche, Centre Hospitalier Universitaire Reims, Reims, France.

Schwannomas are benign peripheral nerve sheath tumors originating from the Schwann cells. Most schwannomas in the head and neck region are solitary; however, multiple schwannomas affecting one or more nerves suggest a possible association with neurofibromatosis type 2 and schwannomatosis. Plexiform schwannoma is a rare variant of conventional schwannoma that is characterized by intraneural multinodular growth. Read More

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http://dx.doi.org/10.1177/2050313X19838184DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6425529PMC
March 2019
2 Reads

From process to progress-2017 International Conference on Neurofibromatosis 1, Neurofibromatosis 2 and Schwannomatosis.

Am J Med Genet A 2019 Mar 25. Epub 2019 Mar 25.

Division of Neuroscience, Oregon National Primate Research Center, and Department of Cell, Developmental and Cancer Biology, Oregon Health & Science University, Portland, Oregon.

The neurofibromatoses are inherited, tumor suppressor disorders that are characterized by multiple, benign peripheral nerve sheath tumors and other nervous system tumors. Each disease is associated with a distinct genetic mutation and with a different pathogenesis and clinical course. Neurofibromatosis 1 (NF1) is common and epitomized by multiple neurofibromas with widespread complications. Read More

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http://dx.doi.org/10.1002/ajmg.a.61112DOI Listing
March 2019
2 Reads

Hearing Response Following Internal Auditory Canal Decompression in Neurofibromatosis Type 2.

Neurosurgery 2019 Mar 19. Epub 2019 Mar 19.

CHU Lille, Otologie et Otoneurologie, Université de Lille, Inserm U1008, Controlled Drug Delivery Systems and Biomaterials, Lille, France.

Background: Hearing response following an osteodural decompression of the internal auditory canal (IAC) is controversial.

Objective: To evaluate the course of auditory brainstem responses (ABRs) and the early hearing response during the first year following IAC decompression for small to medium-sized vestibular schwannomas occurring in neurofibromatosis type 2 (NF2).

Methods: Retrospective chart review of middle fossa craniotomy for IAC osteodural decompression in NF2-related vestibular schwannomas. Read More

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http://dx.doi.org/10.1093/neuros/nyz057DOI Listing
March 2019
1 Read

Cochlear Implantation in Patients With Neurofibromatosis Type 2.

Otol Neurotol 2019 Apr;40(4):e381-e385

Department of Otolaryngology - Head and Neck Surgery, University of Texas Southwestern Medical Center, Dallas, Texas.

Objective: To describe cochlear implantation (CI) outcomes in patients with neurofibromatosis type 2 (NF2).

Study Design: Retrospective case series.

Setting: A multidisciplinary NF2 clinic at a university hospital. Read More

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http://dx.doi.org/10.1097/MAO.0000000000002165DOI Listing
April 2019
1 Read

MicroRNA-373 promotes the development of esophageal squamous cell carcinoma by targeting LATS2 and OXR1.

Int J Biol Markers 2019 Mar 11:1724600819827964. Epub 2019 Mar 11.

College of Life Science, Henan Normal University, Xinxiang, Henan, P.R. China.

Introduction:: MicroRNA373 was highly expressed in many tumors including esophageal cancer. However, its molecular mechanism is still unclear, especially epigenetic modification, in esophageal squamous cell carcinoma (ESCC).

Methods:: In this study, we investigated serum levels of the miR-371-373 cluster in ESCC patients before and after surgical removal, and further focused on the expression level of miR-373-3p in tumor tissues of ESCC patients and its target genes. Read More

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http://dx.doi.org/10.1177/1724600819827964DOI Listing
March 2019
1 Read
1.360 Impact Factor

"Transforming the Beast to A Beauty"- Fifteen Years into the Making - Case Report of Congenital Neurofibromatosis.

Open Access Maced J Med Sci 2019 Feb 31;7(3):388-391. Epub 2019 Jan 31.

Institute of Pathology, Medical Faculty, Ss. Cyril and Methodius University of Skopje, Skopje, Republic of Macedonia.

Background: In 1882, the German pathologist Friedrich Daniel von Recklinghausen described a series of patients with a combination of cutaneous lesions and tumours of the peripheral and central nervous system. Succeeding this paper, all of the patients with similar symptoms were given the diagnosis "von Recklinghausen disease". In the 20th century, a distinction was made between Neurofibromatosis type 1 (NF1) and Neurofibromatosis type 2 (NF2) with the help of molecular testing. Read More

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http://www.id-press.eu/mjms/article/view/oamjms.2019.126
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http://dx.doi.org/10.3889/oamjms.2019.126DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6390159PMC
February 2019
6 Reads

[(8)Treatment Strategy of Vestibular Schwannomas in Patients with Neurofibromatosis Type 2:A Neurosurgeon's Perspective].

No Shinkei Geka 2019 Feb;47(2):161-167

Department of Neurosurgery, Tokyo Medical University.

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http://dx.doi.org/10.11477/mf.1436203914DOI Listing
February 2019
1 Read

Cochlear Implantation in Patients With Neurofibromatosis Type 2.

Otol Neurotol 2019 Feb 15. Epub 2019 Feb 15.

Department of Otolaryngology - Head and Neck Surgery, University of Texas Southwestern Medical Center, Dallas, Texas.

Objective: To describe cochlear implantation (CI) outcomes in patients with neurofibromatosis type 2 (NF2).

Study Design: Retrospective case series.

Setting: A multidisciplinary NF2 clinic at a university hospital. Read More

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http://dx.doi.org/10.1097/MAO.0000000000002165DOI Listing
February 2019
1 Read

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 patients with neurofibromatosis type 2 (NF2).

Methods: A series of 35 consecutive patients with 99 meningiomas in our department were retrospectively included from January 2000 to December 2015. Clinical records, magnetic resonance images, 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
1 Read

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
1 Read

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
2 Reads

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
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6380747PMC
February 2019
1 Read

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
5 Reads

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

Int J Pediatr Otorhinolaryngol 2019 Apr 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
April 2019
2 Reads

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
2 Reads

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
2 Reads

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
3 Reads
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
3 Reads

A cerebellopontine angle mouse model for the investigation of tumor biology, hearing, and neurological function in NF2-related vestibular schwannoma.

Nat Protoc 2019 02;14(2):541-555

Edwin L. Steele Laboratories, Department of Radiation Oncology, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA.

Neurofibromatosis type II (NF2) is a disease that lacks effective therapies. NF2 is characterized by bilateral vestibular schwannomas (VSs) that cause progressive and debilitating hearing loss, leading to social isolation and increased rates of depression. A major limitation in NF2 basic and translational research is the lack of animal models that allow the full spectrum of research into the biology and molecular mechanisms of NF2 tumor progression, as well as the effects on neurological function. Read More

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http://dx.doi.org/10.1038/s41596-018-0105-7DOI Listing
February 2019
18 Reads

Preclinical assessment of MEK1/2 inhibitors for neurofibromatosis type 2-associated schwannomas reveals differences in efficacy and drug resistance development.

Neuro Oncol 2019 Mar;21(4):486-497

Burnett School of Biomedical Sciences, College of Medicine, University of Central Florida (UCF), Orlando, Florida, USA.

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/mitogen-activated protein kinase kinase (MEK)/extracellular signal-regulated kinase (ERK) pathway, we investigated repurposing drugs targeting MEK1 and/or MEK2 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
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6422635PMC
March 2019
14 Reads
5.562 Impact Factor

Identification of myeloid-derived suppressor cells that have an immunosuppressive function in NF2 patients.

J Cancer Res Clin Oncol 2019 Feb 2;145(2):523-533. Epub 2019 Jan 2.

Beijing Neurosurgical Institute, Capital Medical University, No. 6, Tiantan Xili, Chongwen District, Beijing, 100050, China.

Purpose: There is no targeted drug therapy for NF2 patients, and surgery or radiosurgery is not always effective. Therefore, the exploration of new therapeutic pathways is urgently needed.

Methods: We analyzed the expression of cytokines in the serum of NF2 patients and determined the percentage of HLA-DRCD33CD11b cells in blood and NF2-associated schwannomas. Read More

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http://dx.doi.org/10.1007/s00432-018-02825-8DOI Listing
February 2019
3 Reads

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
2 Reads

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
1 Read

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
4 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
5 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
3 Reads

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
20 Reads

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

Laryngoscope 2019 Apr 19;129(4):974-980. 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
April 2019
18 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
21 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
17 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
9 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
11 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
17 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
2 Reads

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
14 Reads

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

Otolaryngol Head Neck Surg 2019 Mar 30;160(3):526-532. 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
March 2019
21 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
13 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
6 Reads
6.393 Impact Factor

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

Laryngoscope 2019 Apr 16;129(4):967-973. 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
April 2019
8 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
5 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
7 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
5 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
7 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
17 Reads