Search our Database of Scientific Publications and Authors

I’m looking for a

    2330 results match your criteria Neurofibromatosis Type 2

    1 OF 47

    Bevacizumab in neurofibromatosis type 2 (NF2) related vestibular schwannomas: a nationally coordinated approach to delivery and prospective evaluation.
    Neurooncol Pract 2016 Dec 7;3(4):281-289. Epub 2016 Jan 7.
    Nuffield Department of Neurosciences, University of Oxford, John Radcliffe Hospital, Oxford, UK (K.A.M., A.P.); University of New South Wales, St Vincent's Clinical School, Darlinghurst, Australia (K.A.M.); University of Westminster, London, UK (J.F.G.); Institute of Psychiatry, King's College, London, UK (J.F.G., R.E.F.); Addenbrooke's Hospital, Cambridge, UK (P.R.A.); Department of Neurology, Guy's & St Thomas' Hospital, London, UK (S.A., R.E.F.); Oxford University Hospitals NHS Trust, Oxford, UK (D.H., C.B., A.P., P.M.P.); Department of Oncology, University of Cambridge, Addenbrooke's Hospital, Cambridge, UK (R.J.); Genomic Medicine, Institute of Human Development, MAHSC, University of Manchester, St Mary's Hospital, Manchester, UK (D.G.E.); Centre for Paediatric, Teenage and Young Adult Cancer, Institute of Cancer Sciences, University of Manchester, Manchester, UK (M.G.M.).
    Background: NF2 patients develop multiple nervous system tumors including bilateral vestibular schwannomas (VS). The tumors and their surgical treatment are associated with deafness, neurological disability, and mortality.Medical treatment with bevacizumab has been reported to reduce VS growth and to improve hearing. Read More

    Clinical and molecular characterization of neurofibromatosis in southern Brazil.
    Expert Rev Mol Diagn 2018 Apr 24. Epub 2018 Apr 24.
    a Laboratório de Medicina Genômica - Centro de Pesquisa Experimental - Hospital de Clínicas de Porto Alegre , Porto Alegre , Rio Grande do Sul , Brazil .
    Objectives: Neurofibromatoses (type 1: NF1; type 2: NF2) are autosomal dominant tumor predisposition syndromes mostly caused by loss-of-function mutations in the tumor suppressor genes NF1 and NF2, respectively. Genotyping is important for correct diagnosis of these diseases. The authors aimed to characterize NF1 and NF2 variants in patients from Southern Brazil. Read More

    Meningioma in Fourth Ventricle of Brain: A Case Report and Literature Review.
    Asian J Neurosurg 2018 Apr-Jun;13(2):428-430
    Department of Neurosurgery, Faculty of Medicine, Tabriz University of Medical Sciences, Tabriz, Iran.
    Meningiomas are benign tumors origin from central nervous system. They usually involve cephalic, paravertebral soft tissues, skin and in rare cases in the ear, temporal bone, mandible, foot, lung, and mediastinum. In this case, we report an unusual case of meningioma which placed in the fourth ventricle. Read More

    2016 Children's Tumor Foundation conference on neurofibromatosis type 1, neurofibromatosis type 2, and schwannomatosis.
    Am J Med Genet A 2018 May;176(5):1258-1269
    Hereditary Cancer Group, The Institute for Health Science Research Germans Trias i Pujol (IGTP)-PMPPC, Barcelona, Spain.
    Organized and hosted by the Children's Tumor Foundation (CTF), the Neurofibromatosis (NF) conference is the premier annual gathering for clinicians and researchers interested in neurofibromatosis type 1 (NF1), neurofibromatosis type 2 (NF2), and schwannomatosis (SWN). The 2016 edition constituted a blend of clinical and basic aspects of NF research that helped in clarifying different advances in the field. The incorporation of next generation sequencing is changing the way genetic diagnostics is performed for NF and related disorders, providing solutions to problems like genetic heterogeneity, overlapping clinical manifestations, or the presence of mosaicism. Read More

    Familial Syndromes Involving Meningiomas Provide Mechanistic Insight Into Sporadic Disease.
    Neurosurgery 2018 Apr 11. Epub 2018 Apr 11.
    Vivian L. Smith Department of Neurosur-gery, University of Texas Health Science Center at Houston, Texas.
    Currently, there is an incomplete understanding of the molecular pathogenesis of meningiomas, the most common primary brain tumor. Several familial syndromes are characterized by increased meningioma risk, and the genetics of these syndromes provides mechanistic insight into sporadic disease. The best defined of these syndromes is neurofibromatosis type 2, which is caused by a mutation in the NF2 gene and has a meningioma incidence of approximately 50%. Read More

    Improvement in Patient-reported Hearing After Treatment With Bevacizumab in People With Neurofibromatosis Type 2.
    Otol Neurotol 2018 Apr 11. Epub 2018 Apr 11.
    Department of Neurology and Cancer Center, Massachusetts General Hospital, Boston, Massachusetts.
    Objective: Assess patient-reported outcomes (PRO) for hearing and tinnitus relative to clinical hearing assessment in people with neurofibromatosis 2 (NF2) associated hearing loss.

    Study Design: Prospective, open label, phase-II clinical trial with PRO administered pre-, post-, and after treatment.

    Setting: Three tertiary referral centers. Read More

    Lipid binding promotes the open conformation and tumor-suppressive activity of neurofibromin 2.
    Nat Commun 2018 Apr 6;9(1):1338. Epub 2018 Apr 6.
    Department of Integrative Structural and Computational Biology, The Scripps Research Institute, Jupiter, FL, 33458, USA.
    Neurofibromatosis type 2 (NF2) is a tumor-forming disease of the nervous system caused by deletion or by loss-of-function mutations in NF2, encoding the tumor suppressing protein neurofibromin 2 (also known as schwannomin or merlin). Neurofibromin 2 is a member of the ezrin, radixin, moesin (ERM) family of proteins regulating the cytoskeleton and cell signaling. The correlation of the tumor-suppressive function and conformation (open or closed) of neurofibromin 2 has been subject to much speculation, often based on extrapolation from other ERM proteins, and controversy. Read More

    Frequency of the Loss of Heterozygosity of the Gene in Sporadic Spinal Schwannomas.
    Anticancer Res 2018 04;38(4):2149-2154
    Laboratory of Molecular Biology, Ophir Loyola Hospital, Belém, Brazil.
    Background/aim: Individuals with type 2 Neurofibromatosis are predisposed for the appearance of schwannomas. In the present study we analyzed the loss of heterozygosity and mutations in the NF2 gene in patients with sporadic Schwannoma without Neurofibromatosis type 2.

    Materials And Methods: We analyzed 39 patients with sporadic spinal schwannoma. Read More

    NF2/Merlin Inactivation and Potential Therapeutic Targets in Mesothelioma.
    Int J Mol Sci 2018 Mar 26;19(4). Epub 2018 Mar 26.
    Division of Molecular Oncology, Aichi Cancer Center Research Institute, 1-1 Kanokoden, Chikusa-ku, Nagoya 464-8681, Japan.
    The neurofibromatosis type 2 () gene encodes merlin, a tumor suppressor protein frequently inactivated in schwannoma, meningioma, and malignant mesothelioma (MM). The sequence of merlin is similar to that of ezrin/radixin/moesin (ERM) proteins which crosslink actin with the plasma membrane, suggesting that merlin plays a role in transducing extracellular signals to the actin cytoskeleton. Merlin adopts a distinct closed conformation defined by specific intramolecular interactions and regulates diverse cellular events such as transcription, translation, ubiquitination, and miRNA biosynthesis, many of which are mediated through Hippo and mTOR signaling, which are known to be closely involved in cancer development. Read More

    Challenges associated with parenting youth with neurofibromatosis: A qualitative investigation.
    Am J Med Genet A 2018 Apr;176(4):959-968
    Department of Psychiatry, Massachusetts General Hospital/Harvard Medical School, Boston, Massachusetts.
    Parents of children with the neurofibromatoses (NF; neurofibromatosis 1, neurofibromatosis 2, and schwannomatosis) are at an increased risk for emotional and physical health problems. This study aimed to determine parents' perceptions of stressors associated with parenting a child with NF in order to inform the development of a resiliency intervention. We conducted three live video semi structured focus groups with parents of youth with NF (N = 30), which were subsequently transcribed and coded using qualitative content analysis. Read More

    Cochlear implantation and auditory brainstem implantation in neurofibromatosis type 2.
    Laryngoscope 2018 Mar 24. Epub 2018 Mar 24.
    House Clinic, Los Angeles, California, U.S.A.
    Objectives/hypothesis: To report a series of patients with neurofibromatosis type 2 (NF2), where each patient underwent both cochlear implantation and auditory brainstem implantation for hearing rehabilitation, and to discuss factors influencing respective implant success.

    Study Design: Retrospective case series.

    Methods: Ten NF2 patients with both cochlear implantations and auditory brainstem implantations were retrospectively reviewed. Read More

    Gastric schwannoma-a rare benign mimic of gastrointestinal stromal tumor.
    Oxf Med Case Reports 2018 Mar 12;2018(3):omy002. Epub 2018 Mar 12.
    Department of Internal Medicine, SBH Health System, 4422 Third Ave, Bronx, NY 10457, USA.
    Schwannomas most commonly manifest as acoustic neuromas in the vestibulo-cochlear nerve (CN VIII). These may occur unilaterally as primary tumors, or bilaterally secondary to neurofibromatosis type 2. More rarely, they present in extra-cranial sites, including the gastrointestinal tract. Read More

    First report of the efficacy of vestibular rehabilitation in improving function in patients with Neurofibromatosis type 2: an observational cohort study in a clinical setting.
    Disabil Rehabil 2018 Mar 20:1-7. Epub 2018 Mar 20.
    a Oxford NF2 Unit, Department of Neurosciences , John Radcliffe Hospital, Oxford University Hospitals NHS Foundation Trust , Oxford , UK.
    Purpose: Patients with Neurofibromatosis type 2 often experience debilitating neuro-otological problems which affect their mobility and balance. This study examined the efficacy of a personalised program of vestibular rehabilitation for patients with Neurofibromatosis type 2.

    Materials And Methods: An observational cohort study analysing routinely collected data for 21 patients in a highly specialised Neurofibromatosis type 2 service. Read More

    Epigenetic restriction of Hippo signaling by MORC2 underlies stemness of hepatocellular carcinoma cells.
    Cell Death Differ 2018 Mar 19. Epub 2018 Mar 19.
    Department of Gastroenterology, Institute of Surgery Research, Daping Hospital, Third Military Medical University (Army Medical University), 400042, Chongqing, China.
    The evolutionarily conserved Hippo signaling pathway is a key regulator of stem cell self-renewal, differentiation, and organ size. While alterations in Hippo signaling are causally linked to uncontrolled cell growth and a broad range of malignancies, genetic mutations in the Hippo pathway are uncommon and it is unclear how the tumor suppressor function of the Hippo pathway is disrupted in human cancers. Here, we report a novel epigenetic mechanism of Hippo inactivation in the context of hepatocellular carcinoma (HCC). Read More

    Neurofibromatosis and Schwannomatosis.
    Semin Neurol 2018 Feb 16;38(1):73-85. Epub 2018 Mar 16.
    Department of Neurology, University Hospital of Heidelberg, Heidelberg, Germany.
    Neurofibromatosis 1, neurofibromatosis 2, and schwannomatosis are a group of related classically inherited but often times sporadic tumor suppressor syndromes. Neuro-oncologists should recognize these syndromes, initiate necessary tests in patients with a clinical suspicion, and support genetic counseling of patients and families. In this review, clinical presentation, diagnostic criteria, day-to-day management including supportive care as well as updates on genetics, and experimental treatment strategies are discussed. Read More

    Generation and Use of Merlin-Deficient Human Schwann Cells for a High-Throughput Chemical Genomics Screening Assay.
    Methods Mol Biol 2018 ;1739:161-173
    Neuroscience Division, Burnett School of Biomedical Science, College of Medicine, University of Central Florida, Orlando, FL, USA.
    Schwannomas are benign nerve tumors that occur sporadically in the general population and in those with neurofibromatosis type 2 (NF2), a tumor predisposition genetic disorder. NF2-associated schwannomas and most sporadic schwannomas are caused by inactivating mutations in Schwann cells in the neurofibromatosis type 2 gene (NF2) that encodes the merlin tumor suppressor. Despite their benign nature, schwannomas and especially vestibular schwannomas cause considerable morbidity. Read More

    Diagnosis of sporadic neurofibromatosis type 2 in the paediatric population.
    Arch Dis Child 2018 May 13;103(5):463-469. Epub 2018 Mar 13.
    Oxford Centre for Genomic Medicine, Nuffield Orthopaedic Centre, Oxford University Hospitals NHS Trust, Oxford, UK.
    Objective: Onset of symptoms in severe sporadic neurofibromatosis type 2 (NF2) is typically within childhood; however, there is poor awareness of presenting features in young children, potentially resulting in delayed diagnosis and poorer outcome. We have reviewed presentation of sporadic paediatric NF2 to raise awareness of early features, highlighting those requiring further investigation.

    Design: Patients diagnosed with NF2 at age ≤16 and seen between 2012 and 2015 were notified via the British Paediatric Neurology Surveillance Unit or identified through the English NF2 service. Read More

    [Retinal Astrocytic Hamartoma in Neurofibromatosis Type 2 - Metaanalysis and a Case Report].
    Klin Monbl Augenheilkd 2018 Mar 13;235(3):290-300. Epub 2018 Mar 13.
    Klinik und Poliklinik für Augenheilkunde, Justus-Liebig-Universität Gießen, Universitätsklinikum Gießen und Marburg, Standort Gießen.
    Background: Neurofibromatosis type 2 (NF2) is a genetic condition with an autosomal dominant pattern of inheritance and incomplete penetrance. It is characterized by multiple benign tumors of the central and peripheral nervous system including astrocytomas, ependymomas, meningeomas, and schwannomas, among which bilateral vestibular schwannomas are the most frequent. Among ocular manifestations of NF2, juvenile subcapsular cataract is the most common followed by epiretinal membranes and combined hamartomas of the retina and retinal pigment epithelium. Read More

    CXCR4: A new player in vestibular schwannoma pathogenesis.
    Oncotarget 2018 Feb 10;9(11):9940-9950. Epub 2018 Jan 10.
    Department of Neurosurgery, University Hospital Würzburg, 97080 Würzburg, Germany.
    Background: CXCR4 is a chemokine receptor that recruits blood stem cells and increases tumor cell growth and invasiveness. We examined CXCR4 expression in vestibular schwannomas (VS) from patients with and without neurofibromatosis type 2 (NF2) and correlated the levels with the patients' clinical characteristics. The aim was to determine whether CXCR4 can be used as a prognostic marker and as a target for systemic therapy. Read More

    Incomplete and false tract insertions in cochlear implantation: retrospective review of surgical and auditory outcomes.
    Eur Arch Otorhinolaryngol 2018 May 5;275(5):1059-1068. Epub 2018 Mar 5.
    Department of Otology and Skull Base Surgery, Gruppo Otologico, Piacenza, Rome, Italy.
    Objectives: To evaluate incidence, demographics, surgical, and radiological correlates of incomplete and false tract electrode array insertions during cochlear implantation (CI). To evaluate outcomes in patients with incomplete electrode insertion (IEI).

    Study Design: Retrospective analysis. Read More

    Long-term outcome after Gamma Knife radiosurgery for acoustic neuroma of all Koos grades: a single-center study.
    J Neurosurg 2018 Mar 2:1-10. Epub 2018 Mar 2.
    Departments of 1 Neurosurgery.
    OBJECTIVE The authors present long-term follow-up data on patients treated with Gamma Knife radiosurgery (GKRS) for acoustic neuroma. METHODS Six hundred eighteen patients were radiosurgically treated for acoustic neuroma between 1992 and 2016 at the Department of Neurosurgery, Medical University Vienna. Patients with neurofibromatosis and patients treated too recently to attain 1 year of follow-up were excluded from this retrospective study. Read More

    Surgical treatment of large vestibular schwannomas in patients with neurofibromatosis type 2: outcomes on facial nerve function and hearing preservation.
    J Neurooncol 2018 Feb 28. Epub 2018 Feb 28.
    Neural Reconstruction Department, Beijing Neurosurgical Institute, Capital Medical University, Beijing, China.
    Surgical treatment of vestibular schwannoma (VS) in patients with neurofibromatosis type 2 (NF2) along with functional preservation of cranial nerves is challenging. The aim of this study was to analyze the outcomes of hearing and facial nerve function in patients with NF2 who underwent large-size VS (> 2 cm) surgery. From 2006 to 2016, one hundred and forty NF2 patients were included with 149 large-size VS resections using retrosigmoid approach. Read More

    Simultaneous cochlear implantation as a therapeutic option in vestibular schwannoma surgery: case report.
    Neurosurg Focus 2018 Mar;44(3):E9
    Department of Neurosurgery, Evangelical University Hospital of Curitiba; and Departments of.
    Hearing loss is the most common symptom of vestibular schwannomas (VSs). The management of these lesions includes observation, radiosurgery, and microsurgical resection. Hearing preservation and rehabilitation are the major challenges after the tumor treatment. Read More

    Neurofibromatosis type 1.
    Handb Clin Neurol 2018 ;148:799-811
    Department of Neurology, Washington University School of Medicine, St. Louis, MO, United States. Electronic address:
    The neurofibromatoses are a group of three heterogeneous disorders that include neurofibromatosis type 1 (NF1), neurofibromatosis type 2 (NF2), and schwannomatosis. NF1 is the most common of these three conditions, and represents one of the most frequently diagnosed cancer predisposition disorders involving the nervous system. While NF1 primarily affects the central and peripheral nervous system, multisystem involvement is the rule, with dermatologic, cardiovascular, gastrointestinal, and orthopedic affectation often reported. Read More

    Bilateral spontaneous regression of vestibular schwannoma in neurofibromatosis type 2: a case report.
    World Neurosurg 2018 Feb 21. Epub 2018 Feb 21.
    Department of Neurosurgery, University Hospital Zurich, University of Zurich, Switzerland; Clinical Neuroscience Center, University Hospital Zurich, Zurich, Switzerland.
    Background: Patients with neurofibromatosis type 2 and bilateral vestibular schwannoma (VS) are frequently treated surgically for any tumor progression, and often repeated surgery or radiation treatment is even considered. Some VS progression occurs without the development of new clinical symptoms, or it does not progress in size over many years, even in the absence of any specific treatment.

    Case Description: We report now a 61-year-old male patient with neurofibromatosis type 2 presenting with bilateral VS. Read More

    Low-dose T1W DCE-MRI for early time points perfusion measurement in patients with intracranial tumors: A pilot study applying the microsphere model to measure absolute cerebral blood flow.
    J Magn Reson Imaging 2018 Feb 23. Epub 2018 Feb 23.
    Division of Informatics, Imaging and Data Science, The University of Manchester, 27 Palatine Road, Manchester, United Kingdom.
    Background: Previous studies have measured cerebral blood flow (CBF) with DSC-MRI using an "early time points" (ET) method based on microsphere theory.

    Purpose: To develop and assess a new ET method for absolute CBF estimation using low-dose high-temporal (LDHT) T1W-DCE-MRI.

    Study Type: Retrospective cohort study. Read More

    Dorsal root ganglia volume differentiates schwannomatosis and neurofibromatosis 2.
    Ann Neurol 2018 Apr 25;83(4):854-857. Epub 2018 Mar 25.
    Department of Neuroradiology, Neurological University Clinic, Heidelberg University Hospital, Heidelberg.
    Schwannomatosis and neurofibromatosis type 2 are hereditary tumor syndromes, and peripheral neuropathy has been reported in both. We prospectively applied in vivo morphometric measurement of dorsal root ganglia volume in 16 schwannomatosis patients, 14 neurofibromatosis type 2 patients, and 26 healthy controls by magnetic resonance neurography. Compared to healthy controls, dorsal root ganglia hypertrophy was a consistent finding in neurofibromatosis type 2 (L3, + 267%; L4, + 235%; L5, + 241%; S1, + 300%; S2, + 242%; Bonferroni-adjusted p < 0. Read More

    Syndromic Hearing Loss: A Brief Review of Common Presentations and Genetics.
    J Pediatr Genet 2018 Mar 4;7(1):1-8. Epub 2018 Jan 4.
    Department of Otolaryngology - Head and Neck Surgery, Indiana University School of Medicine, Indianapolis, Indiana, United States.
    Congenital hearing loss is one of the most common birth defects worldwide, with around 1 in 500 people experiencing some form of severe hearing loss. While over 400 different syndromes involving hearing loss have been described, it is important to be familiar with a wide range of syndromes involving hearing loss so an early diagnosis can be made and early intervention can be pursued to maximize functional hearing and speech-language development in the setting of verbal communication. This review aims to describe the presentation and genetics for some of the most frequently occurring syndromes involving hearing loss, including neurofibromatosis type 2, branchio-oto-renal syndrome, Treacher Collins syndrome, Stickler syndrome, Waardenburg syndrome, Pendred syndrome, Jervell and Lange-Nielsen syndrome, Usher syndromes, Refsum disease, Alport syndrome, MELAS, and MERRF. Read More

    Neurocutaneous Disorders.
    Continuum (Minneap Minn) 2018 02;24(1, Child Neurology):96-129
    Purpose Of Review: This article presents an up-to-date summary of the genetic etiology, diagnostic criteria, clinical features, and current management recommendations for the most common neurocutaneous disorders encountered in clinical adult and pediatric neurology practices.

    Recent Findings: The phakomatoses are a phenotypically and genetically diverse group of multisystem disorders that primarily affect the skin and central nervous system. A greater understanding of the genetic and biological underpinnings of numerous neurocutaneous disorders has led to better clinical characterization, more refined diagnostic criteria, and improved treatments in neurofibromatosis type 1, Legius syndrome, neurofibromatosis type 2, Noonan syndrome with multiple lentigines, tuberous sclerosis complex, Sturge-Weber syndrome, and incontinentia pigmenti. Read More

    Programmed death ligand 1 expression and tumor infiltrating lymphocytes in neurofibromatosis type 1 and 2 associated tumors.
    J Neurooncol 2018 Feb 9. Epub 2018 Feb 9.
    Department of Pediatrics, Memorial Sloan Kettering Cancer Center, New York, NY, USA.
    Immune checkpoint inhibitors targeting programmed cell death 1 (PD-1) or its ligand (PD-L1) have been shown to be effective in treating patients with a variety of cancers. Biomarker studies have found positive associations between clinical response rates and PD-L1 expression on tumor cells, as well as the presence of tumor infiltrating lymphocytes (TILs). It is currently unknown whether tumors associated with neurofibromatosis types 1 and 2 (NF1 and NF2) express PD-L1. Read More

    Chemopreventative celecoxib fails to prevent schwannoma formation or sensorineural hearing loss in genetically engineered murine model of neurofibromatosis type 2.
    Oncotarget 2018 Jan 24;9(1):718-725. Epub 2017 Oct 24.
    Wells Center for Pediatric Research, Department of Pediatrics, Indiana University School of Medicine, Indianapolis, Indiana, USA.
    Mutations in the tumor suppressor gene lead to Neurofibromatosis type 2 (NF2), a tumor predisposition syndrome characterized by the development of schwannomas, including bilateral vestibular schwannomas with complete penetrance. Recent work has implicated the importance of COX-2 in schwannoma growth. Using a genetically engineered murine model of NF2, we demonstrate that selective inhibition of COX-2 with celecoxib fails to prevent the spontaneous development of schwannomas or sensorineural hearing loss , despite elevated expression levels of COX-2 in -deficient tumor tissue. Read More

    Targeted next-generation sequencing for differential diagnosis of neurofibromatosis type 2, schwannomatosis, and meningiomatosis.
    Neuro Oncol 2018 Feb 2. Epub 2018 Feb 2.
    Service de Génétique et Biologie Moléculaires, Hôpital Cochin, Assistance Publique-Hôpitaux de Paris, Paris, France.
    Background: Clinical overlap between neurofibromatosis type 2 (NF2), schwannomatosis, and meningiomatosis can make clinical diagnosis difficult. Hence, molecular investigation of germline and tumor tissues may improve the diagnosis.

    Methods: We present the targeted next generation sequencing (NGS) of NF2, SMARCB1, LZTR1, SMARCE1, and SUFU tumor suppressor genes, using an amplicon-based approach. Read More

    Nf2 Mutation in Schwann Cells Delays Functional Neural Recovery Following Injury.
    Neuroscience 2018 Mar 3;374:205-213. Epub 2018 Feb 3.
    Department of Otolaryngology-Head and Neck Surgery, University of Iowa, Iowa City, IA 52242, United States; Department of Neurosurgery, University of Iowa, Iowa City, IA 52242, United States. Electronic address:
    Merlin is the protein product of the NF2 tumor suppressor gene. Germline NF2 mutation leads to neurofibromatosis type 2 (NF2), characterized by multiple intracranial and spinal schwannomas. Patients with NF2 also frequently develop peripheral neuropathies. Read More

    Monitoring of optic nerve function in Neurofibromatosis 2 children with optic nerve sheath meningiomas using multifocal visual evoked potentials.
    J Clin Neurosci 2018 Apr 3;50:262-267. Epub 2018 Feb 3.
    Save Sight Institute Discipline of Ophthalmology, The University of Sydney, Australia.
    Monitoring optic nerve sheath meningiomas (ONSM) in Neurofibromatosis type 2 (NF2) patients remains difficult. Other ocular manifestations of NF2 may obscure ophthalmic assessment of optic nerve function in these patients. Serial magnetic resonance imaging (MRI) used to assess the optic nerve is not without limitations, being expensive and often requiring general anaesthetic in children, with associated risks. Read More

    Early history of the different forms of neurofibromatosis from ancient Egypt to the British Empire and beyond: First descriptions, medical curiosities, misconceptions, landmarks, and the persons behind the syndromes.
    Am J Med Genet A 2018 Mar 1;176(3):515-550. Epub 2018 Feb 1.
    National Centre for Rare Diseases, Istituto Superiore di Sanità, Rome, Italy.
    The earliest examples of neurofibromatosis (in this case type 1, NF1) can be traced in the Ebers Papyrus (Ancient Egypt, 1.500 B.C. Read More

    Awake craniotomy for assisting placement of auditory brainstem implant in NF2 patients.
    Acta Otolaryngol 2018 Jan 23:1-6. Epub 2018 Jan 23.
    a Department of Neurosurgery , Beijing Tiantan Hospital, Capital Medical University , Beijing , People's Republic of China.
    Objectives: Auditory brainstem implants (ABIs) may be the only opportunity for patients with NF2 to regain some sense of hearing sensation. However, only a very small number of individuals achieved open-set speech understanding and high sentence scores. Suboptimal placement of the ABI electrode array over the cochlear nucleus may be one of main factors for poor auditory performance. Read More

    Prognostic factors for progression in atypical meningioma.
    J Neurosurg 2018 Jan 19:1-9. Epub 2018 Jan 19.
    Neuropathology, Cedars Cancer Centre, McGill University Health Centre, Montreal, Quebec, Canada.
    OBJECTIVE The optimal adjuvant management for atypical meningiomas remains controversial. The aim of this study was to review long-term outcomes to identify potential prognostic factors for disease progression. METHODS From August 1992 to August 2013, 70 patients with atypical meningioma were treated at the authors' institution. Read More

    Trigeminal neuropathy in vestibular schwannoma: a treatment algorithm to avoid long-term morbidity.
    Acta Neurochir (Wien) 2018 Apr 17;160(4):681-688. Epub 2018 Jan 17.
    Cardiff Skull Base Centre, University Hospital of Wales, Cardiff, Wales, UK.
    Background: Trigeminal neuropathy (TGN) can occur as a presenting feature of vestibular schwannoma (VS) or as an adverse effect of radiosurgery. This study was designed to evaluate a treatment algorithm for presenting symptoms of TGN in patients with VS, and a new radiosurgery dosimetric tolerance to avoid TGN after treatment. Outcome was measured after microsurgery (MS), stereotactic radiosurgery (SRS), hypofractionated stereotactic radiotherapy (HSRT), and fractionated radiotherapy (FRT). Read More

    Corneal Myofibroma (Keloid) in a Young Patient with Neurofibromatosis Type 2.
    Ocul Oncol Pathol 2017 Nov 22;3(4):247-249. Epub 2017 Mar 22.
    Eye Center, Albert-Ludwigs-University, Freiburg, Germany.
    We present a 27-year-old male patient with neurofibromatosis type 2 (NF2), facial palsy, and lagophthalmos following acoustic neuroma removal and an impressing vascularized corneal tumor, which was excised. Histology showed a fibrous tumor with small vessels, and immunohistochemistry was positive for vimentin and negative for smooth muscle actin, S100, and GFAP. We assume a corneal myofibroma (keloid), which in this case rather represents a reactive lesion. Read More

    Audiologic Natural History of Small Volume Cochleovestibular Schwannomas in Neurofibromatosis Type 2.
    Otol Neurotol 2018 Mar;39(3):357-364
    Department of Otolaryngology-Head and Neck Surgery, Georgetown University Hospital, Washington, DC.
    Objective: To characterize the audiometric natural progression in patient-ears with small volume (<1,000 mm), treatment-naïve cochleovestibular schwannomas (CVSs) in Neurofibromatosis Type 2 (NF2).

    Study Design: Prospective, longitudinal cohort study.

    Setting: Quaternary medical research institute. Read More

    Systematic Review of Hearing Preservation After Radiotherapy for Vestibular Schwannoma.
    Otol Neurotol 2018 Mar;39(3):273-283
    Department of Otolaryngology, University of Colorado School of Medicine, Aurora, Colorado.
    Objective: To determine the long-term hearing preservation rate for spontaneous vestibular schwannoma treated by primary radiotherapy.

    Data Sources: The MEDLINE/PubMed, Web of Science, Cochrane Reviews, and EMBASE databases were searched using a comprehensive Boolean keyword search developed in conjunction with a scientific librarian. English language papers published from 2000 to 2016 were evaluated. Read More

    Early Genetic Diagnosis of Neurofibromatosis Type 2 From Skin Plaque Plexiform Schwannomas in Childhood.
    JAMA Dermatol 2018 Mar;154(3):341-346
    Department of Dermatology, Germans Trias i Pujol Hospital (HUGTiP), Can Ruti Campus, Badalona, Barcelona, Spain.
    Importance: Neurofibromatosis type 2 (NF2) is a devastating genetic condition characterized by the development of multiple tumors of the nervous system. An early diagnosis of individuals with NF2 would facilitate treatment and reduction of disease impact because most severe effects of the disease do not usually develop before adolescence. Little attention has traditionally been paid to dermatological signs in NF2. Read More

    MR Imaging and Cochlear Implants with Retained Internal Magnets: Reducing Artifacts near Highly Inhomogeneous Magnetic Fields.
    Radiographics 2018 Jan-Feb;38(1):94-106
    From the Departments of Radiology (H.A.E., A.C.P., R.E.W.) and Otorhinolaryngology (M.L.C.), Mayo Clinic, 200 First St SW, Rochester, MN 55905.
    The number of patients receiving cochlear implants and auditory brainstem implants for severe to profound sensorineural hearing loss has rapidly increased. These implants consist of an internal component implanted between the skull and the temporal scalp and an external removable speech processor unit. A small magnet within the internal component is commonly used to hold the external speech processor unit in place. Read More

    Utilization of Nerve Integrity Monitor for Promontory Stimulation Testing Prior to Cochlear Implant.
    Otol Neurotol 2018 Feb;39(2):e60-e62
    Department of Otolaryngology, University of Minnesota.
    Objective: To demonstrate the feasibility of a nerve integrity monitor as a tool for promontory stimulation testing in patients with profound sensorineural hearing loss considering cochlear implantation.

    Patients: Adult patients considered for cochlear implantation with no auditory response on audiometric testing INTERVENTION:: Promontory stimulation testing using the nerve integrity monitor.

    Main Outcome Measure: By using a facial nerve stimulator and the nerve integrity monitor, transtympanic promontory stimulation testing was performed to assess auditory nerve function and determine candidacy for cochlear implantation. Read More

    Congress of Neurological Surgeons Systematic Review and Evidence-Based Guidelines on the Role of Imaging in the Diagnosis and Management of Patients With Vestibular Schwannomas.
    Neurosurgery 2018 Feb;82(2):E32-E34
    Department of Neurosurgery, Emory University School of Medicine, Atlanta, Georgia.
    Question 1: What sequences should be obtained on magnetic resonance imaging (MRI) to evaluate vestibular schwannomas before and after surgery?

    Target Population: Adults with vestibular schwannomas.

    Recommendations: Initial Preoperative Evaluation Level 3: Imaging used to detect vestibular schwannomas should use high-resolution T2-weighted and contrast-enhanced T1-weighted MRI. Level 3: Standard T1, T2, fluid attenuated inversion recovery, and diffusion weighted imaging MR sequences obtained in axial, coronal, and sagittal plane may be used for detection of vestibular schwannomas. Read More

    Congress of Neurological Surgeons Systematic Review and Evidence-Based Guidelines on Emerging Therapies for the Treatment of Patients With Vestibular Schwannomas.
    Neurosurgery 2018 Feb;82(2):E52-E54
    Department of Neurosurgery, Emory University School of Medicine, Atlanta, Georgia.
    Target Population: Adults with histologically proven or suspected vestibular schwannomas with neurofibromatosis type 2 (NF2).

    Question: What is the role of bevacizumab in the treatment of patients with vestibular schwannomas?

    Recommendations: Level 3: It is recommended that bevacizumab be administered in order to radiographically reduce the size or prolong tumor stability in patients with NF2 without surgical options. Level 3: It is recommended that bevacizumab be administered to improve hearing or prolong time to hearing loss in patients with NF2 without surgical options. Read More

    Congress of Neurological Surgeons Systematic Review and Evidence-Based Guidelines on the Role of Radiosurgery and Radiation Therapy in the Management of Patients With Vestibular Schwannomas.
    Neurosurgery 2018 Feb;82(2):E49-E51
    Department of Neurosurgery, Emory University School of Medicine, Atlanta, Georgia.
    Question: What are the indications for stereotactic radiosurgery (SRS) treatment vs observation for patients with intracanalicular vestibular schwannomas without evidence of radiographic progression?

    Recommendation: Level 3: If tinnitus is not observed at presentation, it is recommended that intracanalicular vestibular schwannomas and small tumors (<2 cm) without tinnitus be observed as observation does not have a negative impact on tumor growth or hearing preservation compared to treatment.

    Question: Is there a difference in outcome based on radiosurgery equipment used: Gamma Knife (Elekta, Stockholm, Sweden) vs linear accelerator-based radiosurgery vs proton beam?

    Recommendation: There are no studies that compare 2 or all 3 modalities. Thus, recommendations on outcome based on modality cannot be made. Read More

    Congress of Neurological Surgeons Systematic Review and Evidence-Based Guidelines on Surgical Resection for the Treatment of Patients With Vestibular Schwannomas.
    Neurosurgery 2018 Feb;82(2):E40-E43
    Department of Neurosurgery, Emory University School of Medicine, Atlanta, Georgia.
    Question 1: What surgical approaches for vestibular schwannomas (VS) are best for complete resection and facial nerve (FN) preservation when serviceable hearing is present?

    Recommendation: There is insufficient evidence to support the superiority of either the middle fossa (MF) or the retrosigmoid (RS) approach for complete VS resection and FN preservation when serviceable hearing is present.

    Question 2: Which surgical approach (RS or translabyrinthine [TL]) for VS is best for complete resection and FN preservation when serviceable hearing is not present?

    Recommendation: There is insufficient evidence to support the superiority of either the RS or the TL approach for complete VS resection and FN preservation when serviceable hearing is not present.

    Question 3: Does VS size matter for facial and vestibulocochlear nerve preservation with surgical resection?

    Recommendation: Level 3: Patients with larger VS tumor size should be counseled about the greater than average risk of loss of serviceable hearing. Read More

    Stereotactic radiosurgery does not appear to impact cochlear implant performance in patients with neurofibromatosis type II.
    J Radiosurg SBRT 2017 ;5(1):63-71
    Faculty of Health Sciences, University of Manitoba, Winnipeg, Manitoba, Canada.
    Introduction: Neurofibromatosis Type 2 (NF2) is a genetic condition associated with the presence of bilateral vestibular schwannoma and progressive sensorineural hearing loss. Treatment options include observation, stereotactic radiosurgery (SRS) or surgical resection. Historically, retrocochlear pathology was a contraindication to cochlear implantation (CI). Read More

    1 OF 47