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    Magnetic Resonance Imaging in a Neurofibromatosis Type 2 Patient with a Novel MRI-Compatible Auditory Brainstem Implant.
    J Neurol Surg Rep 2017 Jan;78(1):e12-e14
    Department of Otolaryngology Head and Neck Surgery, University of Kansas School Medical Center, Kansas City, Kansas, United States.
    Auditory brainstem implantation has become a key technique for the rehabilitation of hearing in patients with neurofibromatosis type 2. The nature of this devastating genetic disease requires ongoing MRI for the patient's lifespan. Today, most auditory brainstem implants require removal of the magnet that connects the internal device to the external speech processor to undergo imaging as their disease progresses. Read More

    First insight into the somatic mutation burden of neurofibromatosis type 2-associated grade I and grade II meningiomas: a case report comprehensive genomic study of two cranial meningiomas with vastly different clinical presentation.
    BMC Cancer 2017 Feb 13;17(1):127. Epub 2017 Feb 13.
    Department of Neurological Surgery, Loyola University Stritch School of Medicine, Maywood, IL, USA.
    Background: Neurofibromatosis type 2 (NF2) is a rare autosomal dominant nervous system tumor predisposition disorder caused by constitutive inactivation of one of the two copies of NF2. Meningiomas affect about one half of NF2 patients, and are associated with a higher disease burden. Currently, the somatic mutation landscape in NF2-associated meningiomas remains largely unexamined. Read More

    Rationally combining anti-VEGF therapy with radiation in NF2 schwannoma.
    J Rare Dis Res Treat 2016 ;1(2):51-55
    Department of Radiation Oncology, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts 02114.
    Neurofibromatosis type 2 is characterized by bilateral vestibular schwannomas, which are benign tumors that originate from the nerve sheath and damage the nerve as they grow, causing neurological dysfunction such as hearing loss. Current standard radiation therapy can further augment hearing loss by inducing local damage to mature nerve tissue. Treatment with bevacizumab, a Vascular Endothelial Growth Factor (VEGF)-specific antibody, is associated with tumor control and hearing improvement in NF2 patients; however, its effect is not durable and its mechanism of action on improving nerve function is unknown. Read More

    Medical treatment in neurofibromatosis type 2. Review of the literature and presentation of clinical reports.
    Neurochirurgie 2017 Feb 2. Epub 2017 Feb 2.
    Service de neurochirurgie, hôpital Pitié-Salpêtrière, assistance publique-hôpitaux de Paris, 47-83, boulevard de l'Hôpital, 75013 Paris, France; Université Pierre-et-Marie-Curie, faculté de médecine, 75013 Paris, France; Institut national de la santé et de la recherche médicale, U1127, institut cerveau moelle, 75013 Paris, France. Electronic address:
    The understanding of the molecular pathways underlying tumor development in neurofibromatosis type 2 (NF2) is increasing. Thus, repositioning drugs, drug therapies that are already clinically available for various cancers, appear potentially promising for NF2 patients. Based on preclinical data from in vitro or animal models, five different treatments have been proposed for selected NF2 cases. Read More

    Gamma Knife radiosurgery for treatment of growing vestibular schwannomas in patients with neurofibromatosis Type 2: a matched cohort study with sporadic vestibular schwannomas.
    J Neurosurg 2017 Jan 27:1-11. Epub 2017 Jan 27.
    Department of ENT, Donders Center for Neurosciences, Radboudumc, Nijmegen; and.
    OBJECTIVE Neurofibromatosis Type 2 (NF2) is a tumor syndrome characterized by an autosomal dominant pattern of inheritance. The hallmark of NF2 is the development of bilateral vestibular schwannomas (VSs), generally by 30 years of age. One of the first-line treatment options for small to medium-large VSs is radiosurgery. Read More

    [Neurofibromatosis type 2 in childhood: a clinical characterization].
    Rev Neurol 2017 Feb;64(3):119-124
    Hospital Universitario de Fuenlabrada, Fuenlabrada, Espana.
    Introduction: Neurofibromatosis type 2 (NF2) is a dominantly inherited neuroectodermal syndrome that predispose to the development of tumors of the central and peripheral nervous system. Additional features include eye and skin abnormalities.

    Case Report: A 12-year old male with diagnosis of MF2 according to Baser et al and presentation in childhood was included. Read More

    Global Proteome and Phospho-proteome Analysis of Merlin-deficient Meningioma and Schwannoma Identifies PDLIM2 as a Novel Therapeutic Target.
    EBioMedicine 2017 Jan 18. Epub 2017 Jan 18.
    Institute of Translational and Stratified Medicine, Plymouth University Peninsula Schools of Medicine and Dentistry, John Bull Building, Plymouth Science Park, Research Way, Derriford, Plymouth PL6 8BU, UK. Electronic address:
    Loss or mutation of the tumour suppressor Merlin predisposes individuals to develop multiple nervous system tumours, including schwannomas and meningiomas, sporadically or as part of the autosomal dominant inherited condition Neurofibromatosis 2 (NF2). These tumours display largely low grade features but their presence can lead to significant morbidity. Surgery and radiotherapy remain the only treatment options despite years of research, therefore an effective therapeutic is required. Read More

    Blood-brain barrier permeability of normal-appearing white matter in patients with vestibular schwannoma: A new hybrid approach for analysis of T1 -W DCE-MRI.
    J Magn Reson Imaging 2017 Jan 24. Epub 2017 Jan 24.
    Division of Informatics, Imaging and Data Sciences, University of Manchester, Manchester, UK.
    Purpose: To develop and assess a "hybrid" method that combines a first-pass analytical approach and the Patlak plot (PP) to improve assessment of low blood-brain barrier permeability from dynamic contrast-enhanced (DCE) magnetic resonance imaging (MRI) data.

    Materials And Methods: Seven patients with vestibular schwannoma were enrolled. T1 -W DCE imaging was acquired on a 1. Read More

    What Is It? A Rare Presentation of a Meningioma.
    Eplasty 2016 29;16:e40. Epub 2016 Dec 29.
    Division of Plastic Surgery, Department of Surgery, University of South Florida, Tampa.
    Introduction: Primary extracranial meningiomas are rare manifestations of a central nervous system tumor. This article presents a case study of a soft-tissue primary extracranial tumor in the temporal region that was initially diagnosed as melanoma at an outside institution and whose definitive diagnosis proved difficult prior to successful excision. Methods: Temporal muscle biopsy, ultrasound-guided biopsy, and computed tomography were conducted at an outside institution prior to the patient's presentation to our care. Read More

    'Compassionate use' protocol for auditory brainstem implantation in neurofibromatosis type 2: Early House Ear Institute experience.
    Cochlear Implants Int 2017 Jan 18;18(1):57-62. Epub 2017 Jan 18.
    a House Clinic and House Ear Institute , 2100 West 3rd Street, Los Angeles , CA 90057 , USA.
    Objective: To report the preliminary outcomes of auditory brainstem implantation (ABI) under a compassionate use protocol for two ABI devices that are not approved by the US Food and Drug Administration.

    Methods: A retrospective review was performed of neurofibromatosis type 2 (NF2) patients who underwent microsurgery for vestibular schwannoma (VS) and placement of either the Cochlear ABI541 or Med-El Synchrony ABIs. Peri-operative and device- related complications were reviewed. Read More

    'This diagnosis can be extremely scary'.
    Nurs Stand 2017 Jan;31(21):22-24
    Neurofibromatosis type 2 (NF2) is a rare genetic disorder that occurs in an estimated one in 35,000 people. The condition is often life-limiting and involves tumours growing on the nervous system, typically on the hearing nerves, brain and spine. While the tumours are mainly benign, they can lead to hearing loss, deafness and problems with balance and mobility. Read More

    Trigeminal neuralgia and neuropathy in large sporadic vestibular schwannomas.
    J Neurosurg 2017 Jan 13:1-8. Epub 2017 Jan 13.
    Neurologic Surgery, School of Medicine, and.
    OBJECTIVE The aim of this study was to evaluate the incidence, presentation, and treatment outcomes of trigeminal nerve-mediated symptoms secondary to large vestibular schwannomas (VSs) with trigeminal nerve contact. Specifically, the symptomatic results of pain, paresthesias, and numbness after microsurgical resection or stereotactic radiosurgery (SRS) were examined. METHODS The authors conducted a retrospective review of a database for concomitant diagnosis of trigeminal neuralgia (TN) or trigeminal neuropathy and VS between 1994 and 2014 at a tertiary academic center. Read More

    Rediagnosing one of Smith's patients (John McCann) with "neuromas tumours" (1849).
    Neurol Sci 2017 Jan 11. Epub 2017 Jan 11.
    National Centre for Rare Diseases, Istituto Superiore di Sanità, Rome, Italy.
    In 1849, the Irish Professor of Surgery, Sir Robert William Smith, by publishing his "Treatise on the Pathology, Diagnosis and Treatment of Neuroma", collected six previous examples of "general development of neuromatous tumours" and reported three further cases (two personal and one referred) of what is nowadays known as neurofibromatosis. Among these latter cases, there was a 35-year-old cattle-driver, John McCann, who was first admitted at hospital in 1840 because of a large tumour on the right side of his neck thought to be malignant (and a second tumour sublingually) but not operated. McCann was readmitted in 1843 ("in an emaciated state"), because of an immense tumour in his thigh dying few months later "with hepatic symptoms". Read More

    Angiomotin regulates prostate cancer cell proliferation by signaling through the Hippo-YAP pathway.
    Oncotarget 2016 Dec 29. Epub 2016 Dec 29.
    Department of Translational Molecular Pathology, The University of Texas M. D. Anderson Cancer Center, Houston, Texas, USA.
    Angiomotin (AMOT) is a family of proteins found to be a component of the apical junctional complex of vertebrate epithelial cells and is recently found to play important roles in neurofibromatosis type 2 (NF-2). Whether AMOT plays a role in prostate cancer (PCa) is unknown. AMOT is expressed as two isoforms, AMOTp80 and AMOTp130, which has a 409 aa N-terminal domain that is absent in AMOTp80. Read More

    The response of spinal cord ependymomas to bevacizumab in patients with neurofibromatosis Type 2.
    J Neurosurg Spine 2016 Dec 16:1-9. Epub 2016 Dec 16.
    Nuffield Department of Neurosciences and NF2 Unit.
    OBJECTIVE People with neurofibromatosis Type 2 (NF2) have a genetic predisposition to nervous system tumors. NF2-associated schwannomas stabilize or decrease in size in over half of the patients while they are receiving bevacizumab. NF2 patients treated with bevacizumab for rapidly growing schwannoma were retrospectively reviewed with regard to ependymoma prevalence and response to treatment. Read More

    Childhood neurofibromatosis type 2 (NF2) and related disorders: from bench to bedside and biologically targeted therapies.
    Acta Otorhinolaryngol Ital 2016 Oct;36(5):345-367
    Genomic Medicine, University of Manchester, Manchester Academic Health Science Centre, Institute of Human Development, Central Manchester NHS Foundation Trust, Manchester Royal Infirmary, Manchester, UK.
    Neurofibromatosis type 2 [NF2; MIM # 101000] is an autosomal dominant disorder characterised by the occurrence of vestibular schwannomas (VSs), schwannomas of other cranial, spinal and cutaneous nerves, cranial and spinal meningiomas and/or other central nervous system (CNS) tumours (e.g., ependymomas, astrocytomas). Read More

    Association of bilateral, multiple presumed retinal astrocytic proliferations with combined hamartoma of retina and retinal pigment epithelium in a 9-year-old male child with neurofibromatosis type 2.
    Indian J Ophthalmol 2016 Nov;64(11):850-852
    Shri Bhagwan Mahavir Vitreoretinal Services, Chennai, Tamil Nadu, India.
    Neurofibromatosis type 2 (NF-2) is characterized by multifocal proliferation of neural crest-derived cells. The characteristics finding of NF-2 is bilateral vestibular schwannomas. Combined hamartoma of retina and retinal epithelium (CHRRPE) is another associated finding. Read More

    MicroRNA-296-5p Promotes Invasiveness through Downregulation of Nerve Growth Factor Receptor and Caspase-8.
    Mol Cells 2016 Dec 8. Epub 2016 Dec 8.
    Department of Health Sciences and Technology, Samsung Advanced Institute for Health Sciences and Technology, Sungkyunkwan University, Seoul 06351, Korea.
    Glioblastomas (GBM) are very difficult to treat and their aggressiveness is one of the main reasons for this as well as for the frequent recurrences. MicroRNAs posttranscriptionally regulate their target genes through interaction between their seed sequence and 3'UTR of the target mRNAs. We previously reported that miR-296-3p is regulated by neurofibromatosis 2 (NF2) and enhances the invasiveness of GBM cells via SOCS2/STAT3. Read More

    The molecular pathogenesis of schwannomatosis, a paradigm for the co-involvement of multiple tumour suppressor genes in tumorigenesis.
    Hum Genet 2017 Feb 5;136(2):129-148. Epub 2016 Dec 5.
    Institute of Medical Genetics, School of Medicine, Cardiff University, Cardiff, CF14 4XN, UK.
    Schwannomatosis is characterized by the predisposition to develop multiple schwannomas and, less commonly, meningiomas. Despite the clinical overlap with neurofibromatosis type 2 (NF2), schwannomatosis is not caused by germline NF2 gene mutations. Instead, germline mutations of either the SMARCB1 or LZTR1 tumour suppressor genes have been identified in 86% of familial and 40% of sporadic schwannomatosis patients. Read More

    Regulation of merlin by protein phosphatase 1-TIMAP and EBP50 in endothelial cells.
    Int J Biochem Cell Biol 2017 Jan 18;82:10-17. Epub 2016 Nov 18.
    Department of Medical Chemistry, Faculty of Medicine, University of Debrecen, Egyetem tér 1., Debrecen H-4032, Hungary. Electronic address:
    Merlin (moesin-ezrin-radixin like protein), the product of neurofibromatosis type 2 gene, was primarily recognized as a tumor suppressor, but it also functions as a membrane-cytoskeletal linker and regulator of multiple signaling pathways. The activity and localization of merlin is regulated by head to tail folding that is controlled by phosphorylation of the Ser518 side chain. Merlin localizes in the nucleus when the Ser518 side chain is not phosphorylated, while the phosphorylated form is present in the cytoplasm and the plasma membrane. Read More

    Optimizing gDNA extraction from fresh frozen meningioma tissue for downstream genetic analysis.
    Clin Biochem 2016 Nov 19. Epub 2016 Nov 19.
    Project neuroArm, Department of Clinical Neuroscience, and the Hotchkiss Brain Institute, University of Calgary, 3280 Hospital Drive NW, Calgary, AB T2N 4Z6, Canada.
    Objective: Meningioma is the most common brain tumor. Genetic mutations in meningioma that include deletion of the neurofibromatosis type 2 gene, (NF2), offer diagnostic information on tumor behavior, recurrence and potential response to treatment. Obtaining high-grade genetic material is critical for accurate, sensitive and robust molecular testing. Read More

    Revisiting neurofibromatosis type 2 diagnostic criteria to exclude LZTR1-related schwannomatosis.
    Neurology 2017 Jan 16;88(1):87-92. Epub 2016 Nov 16.
    From the Centre for Genomic Medicine, Division of Evolution and Genomic Science, School of Biological Sciences, St Mary's Hospital (M.J.S., N.L.B., M.B., C.G., A.J.W., D.G.E.), Department of Otolaryngology, Manchester Royal Infirmary (S.K.L.L., S.R.F.), and the Department of Neurosurgery, Salford Royal Foundation Trust (A.T.K., S.A.R., C.L.H.-W.), Manchester Academic Health Sciences Centre, University of Manchester, UK.
    Objective: To determine the specificity of the current clinical diagnostic criteria for neurofibromatosis type 2 (NF2) relative to the requirement for unilateral vestibular schwannoma (VS) and at least 2 other NF2-related tumors.

    Methods: We interrogated our Manchester NF2 database, which contained 205 individuals meeting NF2 criteria who initially presented with a unilateral VS. Of these, 83 (40. Read More

    Gamma Knife radiosurgery for neurofibromatosis type 2-associated meningiomas: a 22-year patient series.
    J Neurooncol 2016 Dec 5;130(3):553-560. Epub 2016 Nov 5.
    Department of Radiation Oncology, Mayo Clinic, 200 First Street SW, Rochester, MN, 55905, USA.
    Neurofibromatosis type 2 (NF2) is a debilitating genetic condition with potential development of multiple meningiomas. We report our experience treating a series of NF2-associated intracranial meningiomas with Gamma Knife radiosurgery (GKRS). Between 1992 and 2013, 15 consecutive patients (age 20-54 years) with 62 intracranial meningiomas were treated with single-fraction GKRS. Read More

    Meningioangiomatosis in an otherwise healthy 13 year-old boy: A case report with emphasis on histopathological findings.
    Iran J Pathol 2016 ;11(3):291-295
    Dept. of Pathology, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran.
    Meningioangiomatosis is regarded as a rare benign hamartomatous condition mostly involving the cerebral cortex and overlying leptomeninges. A strong association of MA with neurofibromatosis type 2 has been documented in published articles. Herein we report a case of an otherwise healthy 13-year-old boy with no family history or stigmata of neurofibromatosis who presented with intractable seizures. Read More

    Toxicity profile of bevacizumab in the UK Neurofibromatosis type 2 cohort.
    J Neurooncol 2017 Jan 28;131(1):117-124. Epub 2016 Oct 28.
    Department of Neurology, Neurofibromatosis Service, Guy's & St Thomas' Hospital, Great Maze Pond, London, SE1 9RT, UK.
    Bevacizumab is considered an established part of the treatment strategies available for schwannomas in patients with Neurofibromatosis type 2 (NF2). In the UK, it is available through NHS National Specialized Commissioning to NF2 patients with a rapidly growing target schwannoma. Regrowth of the tumour on suspension of treatment is often observed resulting in prolonged periods of exposure to bevacizumab to control the disease. Read More

    Growth Dynamics of Intracranial Tumors in Patients with Neurofibromatosis Type 2.
    World Neurosurg 2016 Oct 21. Epub 2016 Oct 21.
    Department of Neurosurgery, HELIOS Klinikum Erfurt, Germany.
    Object: Neurofibromatosis type 2 is an autosomal-dominant disorder caused by a defective gene locus 22q12. Patients with NF2 are prone to develop multiple intracranial neoplasms, such as vestibular schwannomas, meningiomas and schwannomas of other cranial nerves. To date, little is known about the growth dynamics of these tumors. Read More

    A Retrospective Analysis of Vision-Impairing Tumors Among 467 Patients with Neurofibromatosis Type 2.
    World Neurosurg 2017 Jan 21;97:557-564. Epub 2016 Oct 21.
    Department of Neurosurgery, Beijing Tian Tan Hospital, Capital Medical University, Beijing, China. Electronic address:
    Background: Vision is important for patients with hearing loss caused by neurofibromatosis type 2 (NF2). Tumors adjacent to the anterior visual pathway can potentially impair the vision. Only a few case reports and small-series studies have been reported. Read More

    Tinnitus Suppression After Auditory Brainstem Implantation in Patients With Neurofibromatosis Type-2.
    Otol Neurotol 2017 Jan;38(1):118-122
    *Division of Otolaryngology-Head and Neck Surgery, University of Connecticut School of Medicine, Farmington, Connecticut †House Clinic and House Ear Institute, Los Angeles, California ‡Department of Otolaryngology-Head and Neck Surgery, William Beaumont Army Medical Center, El Paso, Texas §House Clinic, Neurosurgery, Los Angeles, California ||Huntington Medical Research Institutes, Pasadena, California.
    Objective: To evaluate whether an auditory brainstem implant (ABI) can impact levels of tinnitus in neurofibromatosis type-2 (NF2) patients who have undergone translabyrinthine craniotomy for vestibular schwannoma (VS) removal and to evaluate the burden of tinnitus in these patients.

    Study Design: A retrospective case series and patient survey.

    Setting: Tertiary neurotologic referral center. Read More

    Inhibiting p21-Activated Kinase Induces Cell Death in Vestibular Schwannoma and Meningioma via Mitotic Catastrophe.
    Otol Neurotol 2017 Jan;38(1):139-146
    *Ear Institute University of Arizona †Department of Otolaryngology-Head & Neck Surgery, College of Medicine University of Arizona ‡Arizona Cancer Center §BIO5 Institute University of Arizona, Arizona.
    Hypothesis: p21-activated kinase (PAK) regulates signaling pathways that promote cell survival and proliferation; therefore, pharmacological inhibition of PAK will induce cell death in vestibular schwannomas (VS) and meningiomas.

    Background: All VS and many meningiomas result from loss of the neurofibromatosis type 2 (NF2) gene product merlin, with ensuing PAK hyperactivation and increased cell proliferation/survival.

    Methods: The novel small molecule PAK inhibitors PI-8 and PI-15-tested in schwannoma and meningioma cells-perturb molecular signaling and induce cell death. Read More

    Neurofibromatosis Type 2 Presenting with Oculomotor Ophthalmoplegia and Distal Myopathy.
    Case Rep Ophthalmol Med 2016 21;2016:1701509. Epub 2016 Sep 21.
    Department of Ophthalmology, School of Medical Sciences, Health Campus, Universiti Sains Malaysia, 16150 Kubang Kerian, Kelantan, Malaysia; Hospital Universiti Sains Malaysia, 16150 Kubang Kerian, Kelantan, Malaysia.
    Neurofibromatosis type 2 usually presents with bilateral acoustic schwannomas. We highlight the rare presentation of neurofibromatosis initially involving third nerve. A 23-year-old Malay female presented with left eye drooping of the upper lid and limitation of upward movement for 8 years. Read More

    Facial Nerve Schwannomas: Review of 80 Cases Over 25 Years at Mayo Clinic.
    Mayo Clin Proc 2016 Nov 5;91(11):1563-1576. Epub 2016 Oct 5.
    Department of Otolaryngology-Head and Neck Surgery, Mayo Clinic School of Medicine, Rochester, MN; Department of Neurologic Surgery, Mayo Clinic School of Medicine, Rochester, MN.
    Objective: To elucidate the long-term clinical behavior, treatment, and outcomes of sporadic facial nerve schwannoma (FNS) in a large cohort of patients managed in the post-magnetic resonance imaging era.

    Patients And Methods: Retrospective review at a single tertiary health care system (January 1, 1990, through December 31, 2015), evaluating 80 consecutive patients with sporadic FNS.

    Results: Ninety-eight patients with FNS were identified; 10 with incomplete data and 8 with neurofibromatosis type 2 were excluded. Read More

    Auditory brainstem implant program development.
    Laryngoscope 2016 Sep 26. Epub 2016 Sep 26.
    House Clinic and Huntington Medical Research Institutes, Los Angeles, California, U.S.A.
    Objective: Auditory brainstem implants (ABIs), which have previously been used to restore auditory perception to deaf patients with neurofibromatosis type 2 (NF2), are now being utilized in other situations, including treatment of congenitally deaf children with cochlear malformations or cochlear nerve deficiencies. Concurrent with this expansion of indications, the number of centers placing and expressing interest in placing ABIs has proliferated. Because ABI placement involves posterior fossa craniotomy in order to access the site of implantation on the cochlear nucleus complex of the brainstem and is not without significant risk, we aim to highlight issues important in developing and maintaining successful ABI programs that would be in the best interests of patients. Read More

    Pediatric neurofibromatosis type 2: clinical and molecular presentation, management of vestibular schwannomas, and hearing rehabilitation.
    Childs Nerv Syst 2016 Dec 4;32(12):2403-2413. Epub 2016 Oct 4.
    Department of Otology and Neurotology, CHRU de Lille, 59037, Lille, France.
    Objective: This study aims to describe the clinical and molecular presentation of pediatric neurofibromatosis type 2 (NF2) and the subsequent management of vestibular schwannomas (VS) and hearing rehabilitation.

    Methods: This is a single-center retrospective study of neurofibromatosis type 2 diagnosed before the age of 18 years old from 1997. Natural history of vestibular schwannomas and surgical outcomes were evaluated using volumetric MRI, hearing, and facial nerve assessment. Read More

    Gastric plexiform schwannoma in association with neurofibromatosis type 2.
    Clin J Gastroenterol 2016 Dec 30;9(6):352-357. Epub 2016 Sep 30.
    Department of Surgery, Washington University School of Medicine, St. Louis, MO, USA.
    Plexiform schwannoma (PS) is an uncommon variant of schwannoma characterized by a multinodular (plexiform) growth pattern. It comprises up to 5 % of all schwannomas. The association between PS and neurofibromatosis type 1 or type 2 (NF1/NF2) is only rarely reported. Read More

    Outcomes of cochlear implantation in patients with neurofibromatosis type 2.
    Cochlear Implants Int 2016 Jul;17(4):172-177
    a Department of Otolaryngology , Salford Royal NHS Foundation Trust , Manchester M6 8HD , UK.
    In neurofibromatosis type 2 (NF2) bilateral vestibular schwannomas (VS) or their treatment usually results in bilateral hearing loss. Cochlear implantation (CI) was traditionally not used in these patients due to concern that retrocochlear disease would render the implant ineffective. This paper describes the auditory outcomes of CI in 13 patients with NF2 and includes patients with untreated VS and patients undergoing VS removal with cochlear nerve preservation. Read More


    Neurofibromatosis Type 2: Presentation, Major Complications, and Management, With a Focus on the Pediatric Age Group.
    J Child Neurol 2016 Sep 21. Epub 2016 Sep 21.
    Murdoch Children's Research Institute, Royal Children's Hospital, Parkville, Victoria, Australia.
    Neurofibromatosis type 2 (NF2) is a rare autosomal dominant disorder (incidence 1:33 000-40 000) characterized by formation of central nervous system tumors, due to mutation in the NF2 gene on chromosome 22q12. Vestibular schwannomas are the hallmark lesion, affecting 95% of individuals and typically occur bilaterally. Schwannomas commonly occur on other nerves intracranially and in the spinal compartment, along with meningiomas, ependymomas, and gliomas. Read More

    Neurofibromatosis: A Review of NF1, NF2, and Schwannomatosis.
    J Pediatr Genet 2016 Jun 9;5(2):98-104. Epub 2016 Mar 9.
    Department of Pathology, Immunology, and Laboratory Medicine, University of Florida, Gainesville, Florida, United States.
    The neurofibromatoses are a heterogeneous group of hereditary cancer syndromes that lead to tumors of the central and peripheral nervous systems, as well as other organ systems. By far the most common form is neurofibromatosis 1 (96%), followed by neurofibromatosis 2 (3%), and a more recently recognized, lesser known form, schwannomatosis. The diagnostic criteria, pathogenesis, molecular considerations, and clinical manifestations are discussed in this review article. Read More

    Gender-specific growth dynamics of neurofibromatosis type-2-related tumors of the central nervous system.
    Acta Neurochir (Wien) 2016 Nov 2;158(11):2127-2134. Epub 2016 Sep 2.
    Department of Neurosurgery, HELIOS Klinikum Erfurt, Nordhäuser Str. 74, 99089, Erfurt, Germany.
    Background: To date, few studies have been published about the growth dynamics of tumors associated with neurofibromatosis type-2 (NF2), none of which evaluated gender-specific differences. Our aim was to compare radiographic data of female and male patients with NF2.

    Methods: MR images of 40 patients (20 female, 20 male) from the regional NF2 referral center were included in this analysis. Read More

    A Diagnostic Dilemma: Multiple Primary Intracranial Tumors Without Vestibular Schwannomas.
    Ann Otol Rhinol Laryngol 2016 Nov 23;125(11):938-942. Epub 2016 Aug 23.
    University of Arizona College of Medicine, Department of Otolaryngology, Tucson, Arizona, USA.
    Sinonasal schwannomas with intracranial extension are exceedingly rare, with only 7 cases reported in the literature. Schwannomas can be isolated or multiple and are commonly associated with familial disorders such as neurofibromatosis 2 (NF 2) or familial schwannomatosis or in sporadic cases seen in sporadic schwannomatosis. Nearly all people with NF2 older than 30 years of age will have the hallmark of bilateral vestibular schwannomas (VS). Read More

    Cranial Nerve Schwannomas: Diagnostic Imaging Approach.
    Radiographics 2016 Sep-Oct;36(5):1463-77. Epub 2016 Aug 19.
    From the Departments of Radiology (A.D.S., L.A.L., D.M.S., L.J.B., K.O.L.), Otorhinolaryngology (J.G.N.), and Neurosurgery (J.Y.L.), University of Pennsylvania Health System, Hospital of the University of Pennsylvania, 3400 Spruce St, 2 Dulles Room 219, Philadelphia, PA 19104.
    Schwannomas are benign nerve sheath tumors that may arise along the complex course of the cranial nerves (CNs), anywhere in the head and neck. Sound knowledge of the CN anatomy and imaging features of schwannomas is paramount for making the correct diagnosis. In this article, we review approaches to diagnosing CN schwannomas by describing their imaging characteristics and the associated clinical presentations. Read More

    Gamma Knife Radiosurgery as Primary Treatment for Large Vestibular Schwannomas: Clinical Results at Long-Term Follow-Up in a Series of 59 Patients.
    World Neurosurg 2016 Nov 13;95:487-501. Epub 2016 Aug 13.
    Department of Neurosurgery, I.R.C.C.S. Ospedale San Raffaele, Milan, Italy; Service of Medical Physics, I.R.C.C.S. Ospedale San Raffaele, Milan, Italy; Service of Neuro-anesthesia, I.R.C.C.S. Ospedale San Raffaele, Milan, Italy; Service of Radiation Oncology, I.R.C.C.S. Ospedale San Raffaele, Milan, Italy; Vita-Salute San Raffaele University, Milan, Italy.
    Background: Gamma Knife radiosurgery (GKRS) represents a well-accepted treatment for small-medium vestibular schwannomas (VS); however, its application in larger VS is still controversial.

    Methods: Among the 523 patients treated at our institution for VS between 2001 and 2010, we included 59 patients with a VS larger than 25 mm, treated by GKRS as primary treatment, not affected by neurofibromatosis type 2, and with a clinical follow-up of at least 36 months. Five patients underwent ventriculoperitoneal shunt placement before radiosurgery. Read More

    [Imaging-based diagnosis of vestibular schwannoma].
    HNO 2016 Aug 17. Epub 2016 Aug 17.
    Institut für diagnostische und interventionelle Radiologie und Neuroradiologie, HELIOS Klinikum Erfurt, Nordhäuser Str. 74, 99089, Erfurt, Deutschland.
    Magnetic resonance imaging (MRI) is the imaging method of choice for patients with vestibular schwannoma, with almost 100 % sensitivity and specificity. The role of computed tomography (CT) is limited to preoperative planning and the postoperative phase. High-resolution sequences and the application of gadolinium-based i. Read More

    Current status and recommendations for biomarkers and biobanking in neurofibromatosis.
    Neurology 2016 Aug;87(7 Suppl 1):S40-8
    From Plymouth University (C.O.H.), Peninsula Schools of Medicine and Dentistry, The Institute of Translational and Stratified Medicine, Plymouth, UK; Department of Neurology (J.O.B.), Johns Hopkins University Medical School, Baltimore, MD; Department of Pediatrics (F.P.N.) and Department of Pediatrics, School of Medicine (K.R., M.F.), Indiana University; Tailored Therapeutics (F.P.N.), Eli Lilly and Company, Indianapolis, IN; Department of Pathology (A.S.-R.), Neuro-oncology (S.R.P.), Massachusetts General Hospital, Boston; Neurologische Klinik (V.M.), Uniklinik Eppendorf, Hamburg; Berlin-Brandenburg Center for Regenerative Therapies (A.K.), Charité Universitätsmedizin Berlin, Germany; Seoul National University (A.K.), College of Veterinary Medicine and Research Institute for Veterinary Science, Republic of Korea; NCI (B.C.W.), Pediatric Oncology Branch, Bethesda, MD; Genomic Medicine (D.G.E.), University of Manchester, UK; National Neurofibromatosis Service (R.F.), Department of Neurology, Guy's and St. Thomas' NHS Foundation Trust, London UK; Department of Pathology and Laboratory Medicine (S.L.C.), Medical University of South Carolina, Charleston; and Heflin Center for Genomic Sciences (B.K.), University of Alabama at Birmingham; Dermatology (P.W.), GHU Henri Mondor, Paris, France; Children's Tumor Foundation (P.K.), New York.
    Objective: Clinically validated biomarkers for neurofibromatosis 1 (NF1), neurofibromatosis 2 (NF2), and schwannomatosis (SWN) have not been identified to date. The biomarker working group's goals are to (1) define biomarker needs in NF1, NF2, and SWN; (2) summarize existing data on biomarkers in NF1, NF2, and SWN; (3) outline recommendations for sample collection and biomarker development; and (4) standardize sample collection and methodology protocols where possible to promote comparison between studies by publishing standard operating procedures (SOPs).

    Methods: The biomarker group reviewed published data on biomarkers in NF1, NF2, and SWN and on biobanking efforts outside these diseases via literature search, defined the need for biomarkers in NF, and developed recommendations in a series of consensus meetings. Read More

    Current whole-body MRI applications in the neurofibromatoses: NF1, NF2, and schwannomatosis.
    Neurology 2016 Aug;87(7 Suppl 1):S31-9
    From The Russell H. Morgan Department of Radiology and Radiological Science (S.A., L.M.F., M.A.J.), Sidney Kimmel Comprehensive Cancer Center (M.A.J.), and Department of Neurology (J.O.B.), Johns Hopkins University, Baltimore, MD; Khyber Medical College (M.S.K.), Peshawar, Pakistan; Department of Radiology (M.A.B., G.J.H., W.C.), Massachusetts General Hospital and Harvard Medical School, Boston; Genomic Medicine (D.G.E.), Manchester Academic Health Science Centre, The University of Manchester, UK; Department of Neurology (S.F., V.F.M.), University Medical Center Hamburg-Eppendorf, Hamburg, Germany; Radiology & Orthopedic Surgery (A.C.), UT Southwestern Medical Center, Dallas, TX; Department of Diagnostic and Interventional Radiology (J.M.S.), University Hospital Hamburg-Eppendorf; Radiological Practice Altona (R.W.), Hamburg, Germany; Pediatric Oncology Branch (E.D.), National Cancer Institute, Bethesda, MD; and Department of Neurology and Cancer Center (S.R.P.), Massachusetts General Hospital, Boston.
    Objectives: The Response Evaluation in Neurofibromatosis and Schwannomatosis (REiNS) International Collaboration Whole-Body MRI (WB-MRI) Working Group reviewed the existing literature on WB-MRI, an emerging technology for assessing disease in patients with neurofibromatosis type 1 (NF1), neurofibromatosis type 2 (NF2), and schwannomatosis (SWN), to recommend optimal image acquisition and analysis methods to enable WB-MRI as an endpoint in NF clinical trials.

    Methods: A systematic process was used to review all published data about WB-MRI in NF syndromes to assess diagnostic accuracy, feasibility and reproducibility, and data about specific techniques for assessment of tumor burden, characterization of neoplasms, and response to therapy.

    Results: WB-MRI at 1. Read More

    Auditory Brainstem Implantation in Neurofibromatosis Type 2: Experience From the Manchester Programme.
    Otol Neurotol 2016 Oct;37(9):1267-74
    *Department of Otolarygology †Department of Audiology ‡Manchester Centre for Genomic Medicine, Institute of Human Development, University of Manchester; and Central Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Science Centre, Manchester §Department of Neurosurgery, Salford Royal Hospital NHS Foundation Trust, Salford ||Institute of Cancer ¶Institute of Cardiovascular Sciences, University of Manchester, Manchester Academic Health Science Centre #Business School, Manchester Metropolitan University, U.K.
    Objective: To describe the experience of auditory brainstem implantation (ABI) in patients with Neurofibromatosis type 2 (NF2).

    Study Design: Retrospective case review.

    Setting: Tertiary referral centre. Read More

    Spinal meningiomas: clinicoradiological factors predicting recurrence and functional outcome.
    Neurosurg Focus 2016 Aug;41(2):E6
    Department of Neurosurgery, LSU Health Shreveport, Louisiana.
    OBJECTIVE Spinal meningiomas are benign tumors with a wide spectrum of clinical and radiological features at presentation. The authors analyzed multiple clinicoradiological factors to predict recurrence and functional outcome in a cohort with a mean follow-up of more than 4 years. The authors also discuss the results of clinical studies regarding spinal meningiomas in the last 15 years. Read More

    Neuron-Specific Deletion of the Nf2 Tumor Suppressor Impairs Functional Nerve Regeneration.
    PLoS One 2016 28;11(7):e0159718. Epub 2016 Jul 28.
    Leibniz Institute on Aging, Fritz Lipmann Institute, 07745, Jena, Germany.
    In contrast to axons of the central nervous system (CNS), axons of the peripheral nervous system (PNS) show better, but still incomplete and often slow regeneration following injury. The tumor suppressor protein merlin, mutated in the hereditary tumor syndrome Neurofibromatosis type 2 (NF2), has recently been shown to have RhoA regulatory functions in PNS neurons-in addition to its well-characterized, growth-inhibitory activity in Schwann cells. Here we report that the conditional knockout of merlin in PNS neurons leads to impaired functional recovery of mice following sciatic nerve crush injury, in a gene-dosage dependent manner. Read More

    Comparing the sensitivity of linear and volumetric MRI measurements to detect changes in the size of vestibular schwannomas in patients with neurofibromatosis type 2 on bevacizumab treatment.
    Br J Radiol 2016 Sep 25;89(1065):20160110. Epub 2016 Jul 25.
    3 Department of Neuroradiology, John Radcliffe Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.
    Objective: To compare the sensitivity of linear and volumetric measurements on MRI in detecting schwannoma progression in patients with neurofibromatosis type 2 on bevacizumab treatment as well as the extent to which this depends on the size of the tumour.

    Methods: We compared retrospectively, changes in linear tumour dimensions at a range of thresholds to volumetric tumour measurements performed using Brainlab iPlan(®) software (Feldkirchen, Germany) and classified for tumour progression according to the Response Evaluation in Neurofibromatosis and Schwannomatosis (REiNS) criteria.

    Results: Assessment of 61 schwannomas in 46 patients with a median follow-up of 20 months (range 3-43 months) was performed. Read More

    Spinal Schwannoma and Meningioma Mimicking a Single Mass at the Craniocervical Junction Subsequent to Remote Radiation Therapy for Acne Vulgaris.
    World Neurosurg 2016 Sep 20;93:484.e13-6. Epub 2016 Jul 20.
    Department of Neurosurgery, Houston Methodist Neurological Institute, Houston, Texas, USA.
    Background: Schwannomas and meningiomas are relatively common tumors of the nervous system. They have been reported in the literature as existing concurrently as a single mass, but very rarely have they been shown to present at the craniocervical junction.

    Case Description: We present a rare and interesting case of a patient previously treated with radiation therapy for acne vulgaris and who presented to us with a concurrent schwannoma and meningioma of the craniocervical junction mimicking a single mass. Read More

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