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    2193 results match your criteria Neurofibromatosis Type 2

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    Genomic diagnostics leading to the identification of a TFG-ROS1 fusion in a child with possible atypical meningioma.
    Cancer Genet 2017 Apr 22;212-213:32-37. Epub 2017 Mar 22.
    Department of Paediatrics and Adolescent Medicine, Neuroscience Center, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark.
    Meningiomas are rare in children. They are highly complex, harboring unique clinical and pathological characteristics, and many occur in patients with neurofibromatosis type 2. Hereby, we present a case of a two-year-old boy presented with a diagnostically challenging intraventricular tumor. Read More

    CyberKnife for Treatment of Vestibular Schwannoma: A Meta-analysis.
    Otolaryngol Head Neck Surg 2017 Apr 1:194599817695805. Epub 2017 Apr 1.
    1 Division of Neurotology and Skull Base Surgery, Department of Otolaryngology-Head and Neck Surgery, University of California, Irvine, California, USA.
    Objectives (1) Perform a meta-analysis of the available data on the outcomes of CyberKnife radiosurgery for treatment of vestibular schwannomas (VSs) in the published English-language literature and (2) evaluate the collective outcomes of CyberKnife treatment with respect to tumor control and hearing preservation. Data Sources A thorough literature search of published English-language articles was performed in the PubMed, Ovid, and Cochrane databases. Review Methods A database search was conducted with the keywords "CyberKnife" and "vestibular schwannoma" or "acoustic neuroma. Read More

    The path forward: 2015 International Children's Tumor Foundation conference on neurofibromatosis type 1, type 2, and schwannomatosis.
    Am J Med Genet A 2017 Apr 24. Epub 2017 Apr 24.
    Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts.
    The Annual Children's Tumor Foundation International Neurofibromatosis Meeting is the premier venue for connecting discovery, translational and clinical scientists who are focused on neurofibromatosis types 1 and 2 (NF1 and NF2) and schwannomatosis (SWN). The meeting also features rare tumors such as glioma, meningioma, sarcoma, and neuroblastoma that occur both within these syndromes and spontaneously; associated with somatic mutations in NF1, NF2, and SWN. The meeting addresses both state of the field for current clinical care as well as emerging preclinical models fueling discovery of new therapeutic targets and discovery science initiatives investigating mechanisms of tumorigenesis. Read More

    Aneurysms in neurofibromatosis type 2: Evidence for vasculopathy?
    Am J Med Genet A 2017 Apr 21. Epub 2017 Apr 21.
    Department of Neurology, Guy's and St. Thomas' NHS Trust, London, UK.
    There have been anecdotal reports of vasculopathy associated with Neurofibromatosis Type 2 (NF2). Given the increasing use of bevacizumab, a vascular endothelial growth factor inhibitor which results in an increased risk of bleeding, it is important to ascertain if there is a predisposition to vascular abnormalities in NF2. In our unit NF2 patients undergo annual MRI brain and internal auditory meatus imaging. Read More

    Ponatinib promotes a G1 cell-cycle arrest of merlin/NF2-deficient human schwann cells.
    Oncotarget 2017 Mar 6. Epub 2017 Mar 6.
    Burnett School of Biomedical Sciences, College of Medicine, University of Central Florida, Lake Nona-Orlando, FL 32827, USA.
    Neurofibromatosis type 2 (NF2) is a genetic syndrome that predisposes individuals to multiple benign tumors of the central and peripheral nervous systems, including vestibular schwannomas. Currently, there are no FDA approved drug therapies for NF2. Loss of function of merlin encoded by the NF2 tumor suppressor gene leads to activation of multiple mitogenic signaling cascades, including platelet-derived growth factor receptor (PDGFR) and SRC in Schwann cells. Read More

    Pediatric Non-vestibular Schwannoma.
    Pediatr Dev Pathol 2017 Jan 1:1093526617703540. Epub 2017 Jan 1.
    1 Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota, USA.
    While the clinicopathologic features of pediatric vestibular schwannomas, often in the context of neurofibromatosis type 2 (NF2), have been well studied, there is less data regarding the characteristics of pediatric non-vestibular schwannomas (NVS). Additionally, the rate of loss of SMARCB1/INI1 expression in this population has not been systematically evaluated. Our institutional archives were searched for cases of NVS arising in patients 18 years or younger. Read More

    Abdominal schwannoma in a case of neurofibromatosis type 2: A report of a rare combination.
    Asian J Neurosurg 2017 Jan-Mar;12(1):89-91
    Department of Neurosurgery, Dhaka Medical College Hospital, Dhaka, Bangladesh.
    Neurofibromatosis-2 (NF2) is an autosomal-dominant disease, which is characterized by vestibular schwannomas (VSs) (acoustic neurinoma) as well as tumours of the peripheral and central nervous system, demonstrating a variety of expression. A 12-year-old girl presented to us with headache and ataxia for four months. We examined and found a lump in the right side of her abdomen. Read More

    Jugular Foramen Collision Tumor (Schwannoma and Plasma Cell Pseudotumor), a Probable IgG4-Related Disease: A Case Report.
    World Neurosurg 2017 Apr 6. Epub 2017 Apr 6.
    Department of Neurosurgery, Fukushima Medical University, Fukushima city, Japan.
    Lower cranial nerve sheath tumors are relatively rare, and cases of schwannoma collision tumors have rarely been reported, with most of the reported cases describing schwannoma and meningioma collision tumors. We report a very rare case of a cerebellopontine angle collision tumor of the 9(th) cranial nerve schwannoma with an IgG4 plasma cell pseudotumor. IgG4 plasma cell pseudotumors comprise a group of diseases called IgG4-related diseases (IgG4-RDs). Read More

    Hearing optimisation in neurofibromatosis type 2: A systematic review.
    Clin Otolaryngol 2017 Apr 1. Epub 2017 Apr 1.
    Department of Genomic Medicine, Central Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Science Centre, Manchester, UK.
    Background: It is common for patients with neurofibromatosis type 2 to develop bilateral profound hearing loss hearing loss, and this is one of the main determinants of quality of life in this patient group.

    Objectives: The aim of this systematic review was to review the current literature regarding hearing outcomes of treatments for vestibular schwannomas in neurofibromatosis type 2 including conservative and medical management, radiotherapy, hearing preservation surgery and auditory implantation in order to determine the most effective way of preserving or rehabilitating hearing.

    Search Strategy: A MESH search in PubMed using search terms (('Neurofibromatosis 2' [Mesh]) AND 'Neuroma, Acoustic'[Mesh]) AND 'Hearing Loss' [Mesh] was performed. Read More

    Neurofibromatosis type 2: Multiple intra-dermal tumors in a toddler.
    Am J Med Genet A 2017 May 3;173(5):1447-1449. Epub 2017 Apr 3.
    University of Manchester, Division of Evolution and Genomic Science, St Mary's Hospital, Manchester Academic Health Science Centre, Central Manchester Foundation Trust, Manchester, UK.

    A mosaic pattern of INI1/SMARCB1 protein expression distinguishes Schwannomatosis and NF2-associated peripheral schwannomas from solitary peripheral schwannomas and NF2-associated vestibular schwannomas.
    Childs Nerv Syst 2017 Apr 1. Epub 2017 Apr 1.
    Unit of Rare Diseases of the Nervous System in Childhood, Department of Clinical and Experimental Medicine, Section of Pediatrics and Child Neuropsychiatry, University of Catania, AOU "Policlinico-Vittorio Emanuele", Via S. Sofia, 78, 95124, Catania, Italy.
    Background: The INI1/SMARCB1 gene protein product has been implicated in the direct pathogenesis of schwannomas from patients with one form of schwannomatosis [SWNTS1; MIM # 162091] showing a mosaic pattern of loss of protein expression by immunohistochemistry [93% in familial vs. 55% in sporadic cases].

    Aim Of Study: To verify whether such INI1/SMARCB1 mosaic pattern could be extended to all schwannomas arising in the sporadic and familial schwannomatoses [i. Read More

    Cochlear implants in the management of hearing loss in Neurofibromatosis Type 2.
    Cochlear Implants Int 2017 May 24;18(3):171-179. Epub 2017 Mar 24.
    b Cambridge University Hospitals NHS Foundation Trust , Cambridge CB2 0QQ , UK.
    Objective: Review of cochlear implant (CI) outcomes in patients with Neurofibromatosis Type 2 (NF2), implanted in the presence of an ipsilateral vestibular schwannoma (VS). Hearing restoration was combined in some cases with a Bevacizumab regime.

    Method: Retrospective review of 12 patients, managed over the period 2009-2016, at a tertiary referral multidisciplinary NF2 clinic. Read More

    Micro-Multileaf Collimator LINAC Radiosurgery for Vestibular Schwannomas.
    World Neurosurg 2017 Mar 16. Epub 2017 Mar 16.
    Department of Stereotaxy and Functional Neurosurgery, University Hospital of Cologne, Germany.
    Objective: This study evaluates the efficacy of linear accelerator (LINAC) radiosurgery using micro multi-leaf collimator technique (μMLC) in the treatment of a consecutive series of patients with vestibular schwannomas.

    Patients And Methods: In this retrospective study, we enrolled 50 patients with non-neurofibromatosis type 2 vestibular schwannoma who were treated with μMLC LINAC-based SRS at University Hospital of Cologne, Germany. A minimum clinical follow-up of 24 months was conducted. Read More

    Long-term MRI surveillance after microsurgery for vestibular schwannoma.
    Laryngoscope 2017 Mar 14. Epub 2017 Mar 14.
    Kaiser Permanente, San Diego, California, U.S.A.
    Objectives: To determine the optimal postoperative magnetic resonance imaging (MRI) schedule and length of follow-up for patients undergoing microsurgical excision of vestibular schwannoma (VS).

    Study Design: A retrospective review of patients who underwent microsurgical excision of VS at a single tertiary care center between January 1993 and March 2004.

    Methods: Two hundred and twenty subjects were analyzed and characteristics gathered, including tumor size, surgical approach, completeness of resection, and length of follow-up to last MRI. Read More

    Stem Cell Factor-Based Identification and Functional Properties of In Vitro-Selected Subpopulations of Malignant Mesothelioma Cells.
    Stem Cell Reports 2017 Apr 9;8(4):1005-1017. Epub 2017 Mar 9.
    Unit of Anatomy, Department of Medicine, University of Fribourg, Route Albert-Gockel 1, 1700 Fribourg, Switzerland.
    Malignant mesothelioma (MM) is an aggressive neoplasm characterized by a poor patient survival rate, because of rapid tumor recurrence following first-line therapy. Cancer stem cells (CSCs) are assumed to be responsible for initiating tumorigenesis and driving relapse after therapeutic interventions. CSC-enriched MM cell subpopulations were identified by an OCT4/SOX2 reporter approach and were characterized by (1) increased resistance to cisplatin, (2) increased sensitivity toward the FAK inhibitor VS-6063 in vitro, and (3) a higher tumor-initiating capacity in vivo in orthotopic xenograft and allograft mouse models. Read More

    Endoscopic approach via the interhemispheric fissure: the role of an endoscope in a surgical case of multiple falcine lesions.
    Acta Neurochir (Wien) 2017 Mar 11. Epub 2017 Mar 11.
    Department of Neurosurgery, Nagoya Daini Red Cross Hospital, 2-9 Myoken-cho Showa-ku, Nagoya-shi, Aichi, 466-8650, Japan.
    Background: For treating a patient with multiple falcine and parasagittal lesions, we believe that it is beneficial to resect the maximum possible number of lesions during one operation, even if some lesions are asymptomatic. This practice can potentially reduce the total number of operations during a patient's lifetime.

    Methods: We provide an introduction of a concurrent endoscopic approach via the interhemispheric fissure. Read More

    Vascular hyperpermeability as a hallmark of phacomatoses: is the etiology angiogenesis related to or comparable with mechanisms seen in inflammatory pathways? Part II: angiogenesis- and inflammation-related molecular pathways, tumor-associated macrophages, and possible therapeutic implications: a comprehensive review.
    Neurosurg Rev 2017 Mar 11. Epub 2017 Mar 11.
    Department of Surgery, Division of Neurosurgery, Beth Israel Deaconess Medical Center, Harvard Medical School, West Campus, Lowry Medical Office Building, Suite 3B, 110 Francis St, Boston, MA, 02215, USA.
    Phacomatoses are a special group of familial hamartomatous syndromes with unique neurocutaneous manifestations as well as characteristic tumors. Neurofibromatosis type 2 (NF2) and tuberous sclerosis complex (TSC) are representatives of this family. A vestibular schwannoma (VS) and subependymal giant cell tumor (SGCT) are two of the most common intracranial tumors associated with these syndromes, related to NF2 and TSC, respectively. Read More

    Vascular hyperpermeability as a hallmark of phacomatoses: is the etiology angiogenesis comparable with mechanisms seen in inflammatory pathways? Part I: historical observations and clinical perspectives on the etiology of increased CSF protein levels, CSF clotting, and communicating hydrocephalus: a comprehensive review.
    Neurosurg Rev 2017 Mar 7. Epub 2017 Mar 7.
    Division of Neurosurgery, Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, MA, USA.
    Phacomatoses are a special group of familial hamartomatous syndromes with unique neuro-cutaneous manifestations as well as disease characteristic tumors. Neurofibromatosis 2 (NF2) and tuberous sclerosis complex (TSC) are representatives of this family. Vestibular schwannoma (VS) and subependymal giant cell tumor (SGCT) are two of the most common intracranial tumors associated with NF2 and TSC, respectively. Read More

    Diagnostic and Prognostic Relevance of the Cutaneous Manifestations of Neurofibromatosis Type 2.
    Actas Dermosifiliogr 2017 Feb 22. Epub 2017 Feb 22.
    Departamento de Dermatología, Hospital Universitari Germans Trias i Pujol, Barcelona, España.
    Neurofibromatosis type 2 is an autosomal dominant hereditary disease with complete penetrance. It gives rise to multiple central and peripheral nervous system tumors, ocular alterations, and various types of skin lesion. In general, neither dermatologists nor other specialists have in-depth knowledge of the clinical manifestations of neurofibromatosis type 2. Read More

    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 Feb 18;16:76-86. 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 Mar 11;38(3):493-499. 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 2017 Feb;8(6):10145-10160
    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 2017 Apr 16;26(4):474-482. 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 2017 Mar 19;50(4-5):194-205. 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 2017 Feb 21;98:152-161. Epub 2016 Oct 21.
    Department of Neurosurgery, HELIOS Klinikum, Erfurt, Germany.
    Objective: Patients with neurofibromatosis type 2 (NF2) are prone to develop multiple intracranial neoplasms, such as schwannomas of the cranial nerves and meningiomas. The aim of our study was to investigate 1) the median growth rate per year, 2) the growth-free interval, and 3) the growth patterns of NF2-associated intracranial tumors.

    Methods: All available magnetic resonance (MR) images of patients from the regional neurofibromatosis center were collected. 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

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