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    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, The Ohio State University College of Pharmacy, Columbus, OH, USA; Department of Pediatrics, The Ohio State University College of Pharmacy, Columbus, OH, USA; Department of Otolaryngology-Head and Neck Surgery, The Ohio State University College of Pharmacy, Columbus, OH, USA; Department of Pathology, The Ohio State University College of Medicine, Columbus, OH, USA; Department of Pathology, The Ohio State University College of Pharmacy, Columbus, OH, USA. Electronic address:
    Meningiomas frequently display activation of the PI3K/AKT/mTOR pathway, leading to elevated levels of phospho-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 Jun 12:1-7. 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 Jun 4. 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 May 26:1-8. 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 May 5:1-9. 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 May 3. Epub 2017 May 3.
    Department of Cancer Biology and David H. Koch Center for Applied Research of Genitourinary Cancers, UT MD Anderson Cancer Center
    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). In order 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 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 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 Apr 10. 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

    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 Jul 24;46(1):79-93. 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

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