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    2228 results match your criteria Neurofibromatosis Type 2

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    Translabyrinthine microsurgical resection of small vestibular schwannomas.
    J Neurosurg 2017 Aug 18:1-9. Epub 2017 Aug 18.
    Neurotology, House Clinic, Los Angeles.
    OBJECTIVE Translabyrinthine resection is one of a number of treatment options available to patients with vestibular schwannomas. Though this procedure is hearing destructive, the authors have noted excellent clinical outcomes for patients with small tumors. The authors review their experience at a tertiary acoustic neuroma referral center in using the translabyrinthine approach to resect small vestibular schwannomas. Read More

    Long-term Quality of Life Following Vestibular Schwannoma Excision Via the Translabyrinthine Approach.
    Otol Neurotol 2017 Sep;38(8):1165-1173
    *University Hospitals Bristol NHS Foundation Trust †University of Bristol ‡School of Social and Community Medicine, University of Bristol, Bristol, UK §Department of Applied Statistics, Helwan University, Cairo, Egypt ||Department of Neurosurgery, Salford Royal NHS Foundation Trust, Salford ¶Manchester Academic Health Science Centre #University of Manchester **Central Manchester University Hospitals NHS Foundation Trust, Manchester ††Salford Royal NHS Foundation Trust, Salford, UK.
    Objective: To assess postoperative quality of life (QOL) and other patient-reported outcomes following surgery for vestibular schwannoma.

    Study Design: Cross-sectional retrospective case review using postal questionnaires.

    Setting: Tertiary referral center. Read More

    Ataxia in a Young Female.
    J Assoc Physicians India 2017 Aug;65(8):109-110
    Govt. Stanley Medical College, General Medicine Department, Chennai, Tamil Nadu.
    Neurofibromatosis type 2 (NF2) is a genetically inherited disorder characterized by the presence of multiple central nervous system tumours, most pathognomonic being bilateral vestibular schwannomas with or without peripheral manifestations in the form of cataract or cutaneous neurofibromas. NF2 is an uncommon disorder compared to NF1. We describe a classical case of neurofibromatosis type 2 with florid clinical manifestations and characteristic neuroimaging features. Read More

    Sight preserving orbital decompression: a novel multidisciplinary approach to managing severe proptosis in neurofibromatosis type 2.
    BMJ Case Rep 2017 Aug 10;2017. Epub 2017 Aug 10.
    ENT Department, Charing Cross Hospital, London, UK.
    We describe the importance of collaboration between multiple surgical specialties in managing a complex case of sight-threatening severe proptosis in a young woman with type 2 neurofibromatosis (NF2) complicated by pre-existing contralateral blindness. Trans-nasal and lateral orbital surgical approaches were aided by stereotactic navigation to debulk a large frontal/sphenoid wing meningioma, which had been exerting pressure onto the right globe and optic nerve. The patient made an excellent postoperative recovery along with preserved residual visual acuity, normal neurology and a good aesthetic outcome. Read More

    p53 performs an essential role in mediating the oncogenic stimulus triggered by loss of expression of neurofibromatosis type 2 during in vitro tumor progression.
    Oncol Lett 2017 Aug 21;14(2):2223-2231. Epub 2017 Jun 21.
    Department of Otolaryngology Head and Neck Surgery, Xinhua Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai 200092, P.R. China.
    The loss of the tumor suppressor neurofibromatosis type 2 gene, encoding merlin, has been considered to be a fundamental event during the malignant progression of various cell types. However, a consensus for the mainstream mechanism, by which merlin deficiency contributes to uncontrolled cellular proliferation, has not been reached. The present study aimed to determine whether silencing of merlin using lentivirus-based short hairpin RNA potentiates cellular proliferation and cell cycle progression in human colon carcinoma HCT116 cell lines, expressing p53. Read More

    Six cases of sporadic schwannomatosis: Topographic distribution and outcomes of peripheral nerve tumors.
    Hand Surg Rehabil 2017 Aug 3. Epub 2017 Aug 3.
    Ghent University Hospital, Department of Orthopaedic Surgery and Traumatology, De Pintelaan 185, 9000 Gent, Belgium. Electronic address:
    The diagnosis of schwannomatosis is often overestimated and is based on the existence of multiple peripheral nerve tumors composed exclusively of schwannomas, in the absence of clinical signs of neurofibromatosis type 2 (NF2). Sporadic forms are much more frequent than familial forms. The objective of this study was to describe the distribution of peripheral nerve tumors and investigate the outcomes of schwannomas in the context of sporadic schwannomatosis. Read More

    Combination Therapy With c-Met and Src Inhibitors Induces Caspase-Dependent Apoptosis of Merlin-Deficient Schwann Cells and Suppresses Growth of Schwannoma Cells.
    Mol Cancer Ther 2017 Aug 3. Epub 2017 Aug 3.
    Division of Neuroscience, Burnett School of Biomedical Science, College of Medicine, University of Central Florida
    Neurofibromatosis type 2 (NF2) is a nervous system tumor disorder caused by inactivation of the merlin tumor suppressor encoded by the NF2 gene. Bilateral vestibular schwannomas (VS) are a diagnostic hallmark of NF2. Mainstream treatment options for NF2-associated tumors have been limited to surgery and radiotherapy; however, off-label uses of targeted molecular therapies are becoming increasingly common. Read More

    Regulation of human glioma cell apoptosis and invasion by miR-152-3p through targeting DNMT1 and regulating NF2 : MiR-152-3p regulate glioma cell apoptosis and invasion.
    J Exp Clin Cancer Res 2017 Aug 1;36(1):100. Epub 2017 Aug 1.
    Department of Neurosurgery, Zhujiang Hospital Southern Medical University, National Key Clinical Specialty, Engineering Technology Research Center of Education Ministry of China, Guangdong Provincial Key Laboratory on Brain Function Repair and Regeneration, Guangzhou, Guangdong, 510282, China.
    Background: MiRNAs are involved in aberrant DNA methylation through regulation of DNA methyltransferases (DNMTs) in the pathogenesis and progression of glioblastomas (GBM). MiR-152-3p was down-expressed in human malignancies, and served as a tumor suppressor. Neurofibromatosis type 2 (NF2) was significantly decreased in GBM tissues with a high level of methylation. Read More

    Association of Genetic Predisposition With Solitary Schwannoma or Meningioma in Children and Young Adults.
    JAMA Neurol 2017 Jul 31. Epub 2017 Jul 31.
    Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine, and Health, University of Manchester, Manchester Academic Health Science Centre, Manchester, England4Manchester Centre for Genomic Medicine, St Mary's Hospital, Central Manchester University Hospitals National Health Service Foundation Trust and Manchester Academic Health Science Centre, Manchester, England.
    Importance: Meningiomas and schwannomas are usually sporadic, isolated tumors occurring in adults older than 60 years and are rare in children and young adults. Multiple schwannomas and/or meningiomas are more frequently associated with a tumor suppressor syndrome and, accordingly, trigger genetic testing, whereas solitary tumors do not. Nevertheless, apparently sporadic tumors in young patients may herald a genetic syndrome. Read More

    Unilateral Vestibular Schwannoma and Meningiomas in a Patient with PIK3CA-Related Segmental Overgrowth: Co-occurrence of Mosaicism for Two Rare Disorders.
    Clin Genet 2017 Jul 24. Epub 2017 Jul 24.
    Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA.
    A 28-year-old female with PIK3CA-related segmental overgrowth presented with headaches. She also had a unilateral vestibular schwannoma (VS), as well as three small (<2 cm) meningiomas, which according to the Manchester consensus diagnostic criteria for neurofibromatosis 2 (NF2) is sufficient for a clinical diagnosis. Analysis of blood revealed a mosaic PIK3CA c. Read More

    The efficacy of lapatinib and nilotinib in combination with radiation therapy in a model of NF2 associated peripheral schwannoma.
    J Neurooncol 2017 Jul 22. Epub 2017 Jul 22.
    Departments of Neurosurgery, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
    Neurofibromatosis type 2 (NF2), a neurogenetic condition manifest by peripheral nerve sheath tumors (PNST) throughout the neuroaxis for which there are no approved therapies. In vitro and in vivo studies presented here examine agents targeting signaling pathways, angiogenesis, and DNA repair mechanisms. In vitro dose response assays demonstrated potent activity of lapatinib and nilotinib against the mouse schwannoma SC4 (Nf2 (-/-)) cell line. Read More

    Management of multiple meningiomas.
    J Neurosurg 2017 Jul 21:1-7. Epub 2017 Jul 21.
    Divisions of 1 Neurosurgery and.
    OBJECTIVE Multiple meningiomas account for 1%-10% of meningiomas. This study describes epidemiological aspects of the disease and its management, which is more challenging than for single tumors. METHODS A consecutive series of adult patients with ≥ 2 spatially separated meningiomas was reviewed. Read More

    An essential role for the tumor suppressor Merlin in regulating fatty acid synthesis.
    Cancer Res 2017 Jul 20. Epub 2017 Jul 20.
    Cancer Biology, Fox Chase Cancer Center
    Neurofibromatosis type 2 (NF2) is an autosomal dominant disorder characterized by the development of multiple tumors in the central nervous system, most notably schwannomas and meningiomas. Mutational inactivation of the NF2 gene encoding the protein Merlin is found in most sporadic and inherited schwannomas, but the molecular mechanisms underlying neoplastic changes in schwannoma cells remain unclear. We report here that NF2-deficient cells display elevated expression levels of key enzymes involved in lipogenesis and that this upregulation is caused by increased activity of Torc1. Read More

    Population rCharacteristics and Progressive Disability in Neuofibromatosis Type 2.
    World Neurosurg 2017 Jul 15. Epub 2017 Jul 15.
    Fukushima Medical University, Fukushima City, JAPAN, Department of Neurosurgery.
    Objective: To characterize the clinical features of the NF2 population and determine prognostic risk factors for progressive disabilities.

    Methods: In this retrospective cohort study of the Japanese national NF2 registry between 2009-2013, various clinical data (demographic, history, oncological, and neurological) of 807 patients with diagnosis of NF2 were analyzed. The overall severity of neurological disability was assessed using a comprehensive 25-point scoring system encompassing a wide variety of neurological deficits. Read More

    Drug development against the hippo pathway in mesothelioma.
    Transl Lung Cancer Res 2017 Jun;6(3):335-342
    Department of Surgery, University of California, San Francisco, USA.
    Advances in the treatments for malignant pleural mesothelioma (MPM) have been disappointing until recently. Conventional cytotoxic drugs fail in MPM in part because they do not address the cancer stem cell population or stem cell pathways that drive tumor resistance and resurgence following treatment. The Hippo stem cell pathway regulates cell contact inhibition with tumor suppressor genes such as NF2 (Neurofibromatosis 2) upstream controlling YAP (Yes-associated protein 1) oncogenes. Read More

    Cellular prion protein (PrP(C)) in the development of Merlin-deficient tumours.
    Oncogene 2017 Jul 10. Epub 2017 Jul 10.
    Institute of Translational and Stratified Medicine, Plymouth University Peninsula Schools of Medicine and Dentistry, Plymouth, UK.
    Loss of function mutations in the neurofibromatosis Type 2 (NF2) gene, coding for a tumour suppressor, Merlin, cause multiple tumours of the nervous system such as schwannomas, meningiomas and ependymomas. These tumours may occur sporadically or as part of the hereditary condition neurofibromatosis Type 2 (NF2). Current treatment is confined to (radio) surgery and no targeted drug therapies exist. Read More

    Nerve ultrasound shows subclinical peripheral nerve involvement in neurofibromatosis type 2.
    Muscle Nerve 2017 Jun 29. Epub 2017 Jun 29.
    Department of Neurology and Clinical Neurophysiology, Elisabeth-Tweesteden Hospital, Hilvarenbeekseweg 60, 5022 GC, Tilburg, The Netherlands.
    Introduction: Neurofibromatosis type 2 (NF2) is mainly associated with central nervous system (CNS) tumors. Peripheral nerve involvement is described in symptomatic patients, but evidence of subclinical peripheral nerve involvement is scarce.

    Methods: We conducted a cross-sectional pilot study in 2 asymptomatic and 3 minimally symptomatic patients with NF2 to detect subclinical peripheral nerve involvement. Read More

    Characterization and utilization of an international neurofibromatosis web-based, patient-entered registry: An observational study.
    PLoS One 2017 23;12(6):e0178639. Epub 2017 Jun 23.
    Children's Tumor Foundation, New York, United States of America.
    The neurofibromatoses (neurofibromatosis type 1, neurofibromatosis type 2 and schwannomatosis) are rare disorders having clinical manifestations that vary greatly from patient to patient. The rarity and variability of these disorders has made it challenging for investigators to identify sufficient numbers of patients with particular clinical characteristics or specific germline mutations for participation in interventional studies. Similarly, because the natural history of all types of neurofibromatosis (NF) is variable and unique for each individual, it is difficult to identify meaningful clinical outcome measures for potential therapeutic interventions. Read More

    Cancer and Central Nervous System Tumor Surveillance in Pediatric Neurofibromatosis 2 and Related Disorders.
    Clin Cancer Res 2017 Jun;23(12):e54-e61
    Division of Haematology/Oncology, University of Toronto, Toronto, Ontario, Canada.
    The neurofibromatoses consist of at least three autosomal-dominant inherited disorders: neurofibromatosis type 1 (NF1), neurofibromatosis type 2 (NF2), and schwannomatosis. For over 80 years, these conditions were inextricably tied together under generalized neurofibromatosis. In 1987, the localization of NF1 to chromosome 17q and NF2 (bilateral vestibular schwannoma) to 22q led to a consensus conference at Bethesda, Maryland. Read More

    Cancer and Central Nervous System Tumor Surveillance in Pediatric Neurofibromatosis 1.
    Clin Cancer Res 2017 Jun;23(12):e46-e53
    Division of Haematology/Oncology, University of Toronto, Toronto, Ontario, Canada.
    Although the neurofibromatoses consist of at least three autosomal dominantly inherited disorders, neurofibromatosis 1 (NF1), neurofibromatosis 2 (NF2), and schwannomatosis, NF1 represents a multisystem pleiotropic condition very different from the other two. NF1 is a genetic syndrome first manifesting in childhood; affecting multiple organs, childhood development, and neurocognitive status; and presenting the clinician with often complex management decisions that require a multidisciplinary approach. Molecular genetic testing (see article for detailed discussion) is recommended to confirm NF1, particularly in children fulfilling only pigmentary features of the diagnostic criteria. Read More

    Overexpression of eIF4F components in meningiomas and suppression of meningioma cell growth by inhibiting translation initiation.
    Exp Neurol 2017 Jun 10. Epub 2017 Jun 10.
    Center for Childhood Cancer and Blood Diseases, The Research Institute at Nationwide Children's Hospital, Columbus, OH, USA; Department of Pediatrics, The Ohio State University College of Medicine, Columbus, OH, USA; Department of Otolaryngology-Head and Neck Surgery, The Ohio State University College of Medicine, Columbus, OH, USA; Department of Pathology, The Ohio State University College of Medicine, Columbus, OH, USA. Electronic address:
    Meningiomas frequently display activation of the PI3K/AKT/mTOR pathway, leading to elevated levels of phospho-eukaryotic translation initiation factor 4E binding proteins, which enhances protein synthesis; however, it is not known whether inhibition of protein translation is an effective treatment option for meningiomas. We found that human meningiomas expressed high levels of the three components of the eukaryotic initiation factor 4F (eIF4F) translation initiation complex, eIF4A, eIF4E, and eIF4G. The expression of eIF4A and eIF4E was important in sustaining the growth of NF2-deficient benign meningioma Ben-Men-1 cells, as shRNA-mediated knockdown of these proteins strongly reduced cell proliferation. Read More

    Translabyrinthine vestibular schwannoma resection with simultaneous cochlear implantation.
    Cochlear Implants Int 2017 Sep 12;18(5):278-284. Epub 2017 Jun 12.
    a Department of Otolaryngology - Head & Neck Surgery , Virginia Commonwealth University School of Medicine , 1200 East Broad Street, West Hospital, 12th Floor, South Wing, Suite 313, PO Box 980146, Richmond , VA 23298-0146 , USA.
    Objectives: (1) Report a rare case of translabyrinthine resection of a sporadic vestibular schwannoma (VS) and concurrent cochlear implantation (CI). (2) Discuss pre-, intra-, and post-operative considerations in this unique patient population. (3) Describe surgical and audiologic outcomes reported in this population. Read More

    Animal models of meningiomas.
    Chin Clin Oncol 2017 Jul 4;6(Suppl 1):S6. Epub 2017 Jun 4.
    Department of Neuropathology, Otto-von-Guericke University, Magdeburg, Germany.
    Meningiomas are frequent intracranial and intraspinal tumors. They are tumors of the elderly, and meningioma growth at certain localizations, as well as recurrent tumors or primary aggressive biology may pose a therapeutic challenge. To understand the growth characteristics of meningiomas, animal models can provide insights both from a biological and therapeutical point of view. Read More

    Appendiceal ganglioneuroma in neurofibromatosis type 2.
    Clin Imaging 2017 May 27;45:22-25. Epub 2017 May 27.
    Department of Radiology, Northwell Health System, Hofstra Northwell School of Medicine, 300 Community Drive, Manhasset, NY 11030, USA. Electronic address:
    Here we report the case of a 30-year-old woman with a history of neurofibromatosis type 2 (NF2) who presented with an incidentally discovered pelvic mass on an ultrasound. The identity of the mass remained indeterminate following a CT and MRI, although appendiceal pathology was suspected. An elective laparoscopy and appendectomy were performed without complication and pathology on the specimen demonstrated an appendiceal ganglioneuroma. Read More

    Merlin is required for coordinating proliferation of two stem cell lineages in the Drosophila testis.
    Sci Rep 2017 May 31;7(1):2502. Epub 2017 May 31.
    Life Sciences Institute, Center for Stem Cell Biology, Ann Arbor, Michigan, United States.
    Although the mechanisms that balance self-renewal and differentiation of a stem cell lineage have been extensively studied, it remains poorly understood how tissues that contain multiple stem cell lineages maintain balanced proliferation among distinct lineages: when stem cells of a particular lineage proliferate, how do the other lineages respond to maintain the correct ratio of cells among linages? Here, we show that Merlin (Mer), a homolog of the human tumor suppressor neurofibromatosis 2, is required to coordinate proliferation of germline stem cells (GSCs) and somatic cyst stem cells (CySCs) in the Drosophila testis. Mer mutant CySCs fail to coordinate their proliferation with that of GSCs in multiple settings, and can be triggered to undergo tumorous overproliferation. Mer executes its function by stabilizing adherens junctions. Read More

    Sporadic pediatric meningiomas: a neuroradiological and neuropathological study of 15 cases.
    J Neurosurg Pediatr 2017 Aug 26;20(2):141-148. Epub 2017 May 26.
    Departments of 1 Neurological Surgery.
    OBJECTIVE Sporadic meningiomas have been classified in many different ways. Radiographically, these lesions can be described as occurring in either typical or atypical locations. The purpose of this study was to determine if there are any histopathological differences between sporadic meningiomas that arise in these varying locations in children. Read More

    Pediatric meningiomas: 65-year experience at a single institution.
    J Neurosurg Pediatr 2017 Jul 5;20(1):42-50. Epub 2017 May 5.
    Department of Neurosurgery, University of Iowa Hospitals and Clinics, Iowa City, Iowa; and.
    OBJECTIVE Meningiomas are relatively common, typically benign neoplasms in adults; however, they are relatively rare in the pediatric population. Pediatric meningiomas behave very differently from their adult counterparts, tending to have more malignant histological subtypes and recur more frequently. The authors of this paper investigate the risk factors, pathological subtypes, and recurrence rates of pediatric meningiomas. Read More

    [Hereditary tumor syndromes in neuropathology].
    Pathologe 2017 May;38(3):186-196
    Institut für Neuropathologie, Otto-von-Guericke-Universität Magdeburg, Leipziger Straße 44, 39120, Magdeburg, Deutschland.
    Neoplasms in the central (CNS) and peripheral nervous system (PNS) in hereditary tumor syndromes play an important role in the neuropathological diagnostics. The benign and malignant PNS and CNS tumors that occur in the frequent neurofibromatosis type 1 (NF1) and type 2 (NF2) often represent essential factors for the course of the disease in those affected. Furthermore, certain clinical constellations (e. Read More

    Comprehensive pharmacological profiling of neurofibromatosis cell lines.
    Am J Cancer Res 2017 1;7(4):923-934. Epub 2017 Apr 1.
    Department of Systems Pharmacology and Translational Therapeutics, Perelman School of Medicine, University of PennsylvaniaPhiladelphia, PA 19104, USA.
    Patients with Neurofibromatosis type 1 (NF1) and Neurofibromatosis type 2 (NF2) are predisposed to tumors of the nervous system. NF1 patients predominantly develop neurofibromas, and Malignant Peripheral Nerve Sheath Tumors (MPNST) while NF2 patients develop schwannomas and meningiomas. Here we quantified the drug sensitivities of NF1 and NF2 tumor cell lines in a high throughput platform. Read More

    Combined Inhibition of NEDD8-Activating Enzyme and mTOR Suppresses NF2 Loss-Driven Tumorigenesis.
    Mol Cancer Ther 2017 Aug 3;16(8):1693-1704. Epub 2017 May 3.
    Department of Cancer Biology and David H. Koch Center for Applied Research of Genitourinary Cancers, University of Texas MD Anderson Cancer Center, Houston, Texas.
    Inactivation of NF2/Merlin causes the autosomal-dominant cancer predisposition syndrome familial neurofibromatosis type 2 (NF2) and contributes to the development of malignant pleural mesothelioma (MPM). To develop a targeted therapy for NF2-mutant tumors, we have exploited the recent realization that Merlin loss drives tumorigenesis by activating the E3 ubiquitin ligase CRL4(DCAF1), thereby inhibiting the Hippo pathway component Lats. Here, we show that MLN4924, a NEDD8-activating enzyme (NAE) inhibitor, suppresses CRL4(DCAF1) and attenuates activation of YAP in NF2-mutant tumor cells. Read More

    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 Jul 25;157(1):7-15. Epub 2017 Apr 25.
    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 Jun 24;173(6):1714-1721. 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 Jun 21;173(6):1562-1565. 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 May;8(19):31666-31681
    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 Jun 18;20(3):232-239. Epub 2017 Apr 18.
    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

    Genomic and Molecular Screenings Identify Different Mechanisms for Acquired Resistance to MET Inhibitors in Lung Cancer Cells.
    Mol Cancer Ther 2017 Jul 10;16(7):1366-1376. Epub 2017 Apr 10.
    Genes and Cancer Group, Cancer Epigenetics and Biology Program (PEBC), Bellvitge Biomedical Research Institute-IDIBELL, Hospitalet de Llobregat, Barcelona, Spain.
    The development of resistance to tyrosine kinase inhibitors (TKI) limits the long-term efficacy of cancer treatments involving them. We aimed to understand the mechanisms that underlie acquired resistance (AR) to MET inhibitors in lung cancer. EBC1 cells, which have MET amplification and are sensitive to TKIs against MET, were used to generate multiple clones with AR to a MET-TKI. 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 Jun 1;33(6):933-940. 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

    Ultrasound assessment of peripheral nerve pathology in neurofibromatosis type 1 and 2.
    Clin Neurophysiol 2017 May 20;128(5):702-706. Epub 2017 Feb 20.
    Center of Neurology, Tübingen University Hospital and Hertie Institute for Clinical Brain Research, Eberhard-Karl University Tübingen, Tübingen, Germany. Electronic address:
    Objective: The neurofibromatoses (NF) type 1 and 2 are hereditary tumor predisposition syndromes caused by germline mutations in the NF1 and NF2 tumor suppressor genes. In NF1 and 2, peripheral nerve tumors occur regularly. For further characterizing nerve ultrasound was performed in patients with NF1 and 2. 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

    [Intramedullary spinal cord tumors and neurofibromatosis].
    Zh Vopr Neirokhir Im N N Burdenko 2017;81(1):70-73
    Burdenko Neurosurgical Institute, Moscow, Russia.
    The article addresses the issue of a combination and relationship between intramedullary spinal cord tumors (IMSCTs) and neurofibromatosis (NF).

    Aim: To study, based on large clinical material, features of the prevalence and biological nature of intramedullary spinal cord tumors in neurofibromatosis patients in different age groups.

    Material And Methods: We analyzed the data of the largest series of patients from all age groups who underwent surgery for spinal cord intramedullary tumors (541 patients; 586 surgeries; age, 2 months to 72 years). 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 Jul 11;159(7):1243-1246. 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

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