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    2298 results match your criteria Neurofibromatosis Type 2

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

    Study Design: Prospective, longitudinal cohort study.

    Setting: Quaternary medical research institute. Read More

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

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

    Early Genetic Diagnosis of Neurofibromatosis Type 2 From Skin Plaque Plexiform Schwannomas in Childhood.
    JAMA Dermatol 2018 Jan 10. Epub 2018 Jan 10.
    Department of Dermatology, Germans Trias i Pujol Hospital (HUGTiP), Can Ruti Campus, Badalona, Barcelona, Spain.
    Importance: Neurofibromatosis type 2 (NF2) is a devastating genetic condition characterized by the development of multiple tumors of the nervous system. An early diagnosis of individuals with NF2 would facilitate treatment and reduction of disease impact because most severe effects of the disease do not usually develop before adolescence. Little attention has traditionally been paid to dermatological signs in NF2. Read More

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

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

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

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

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

    Target Population: Adults with vestibular schwannomas.

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

    Diagnostics and therapy of vestibular schwannomas - an interdisciplinary challenge.
    GMS Curr Top Otorhinolaryngol Head Neck Surg 2017 18;16:Doc03. Epub 2017 Dec 18.
    Department of Neurosurgery, Helios Hospital of Erfurt, Germany.
    Vestibular schwannomas (VS) expand slowly in the internal auditory canal, in the cerebellopontine angle, inside the cochlear and the labyrinth. Larger tumors can displace and compress the brainstem. With an annual incidence of 1:100,000 vestibular schwannoma represent 6-7% of all intracranial tumors. Read More

    Differential Expression of NF2 in Neuroepithelial Compartments Is Necessary for Mammalian Eye Development.
    Dev Cell 2018 Jan 14;44(1):13-28.e3. Epub 2017 Dec 14.
    Department of Biological Sciences, Korea Advanced Institute of Science and Technology (KAIST), Daejeon 34141, South Korea. Electronic address:
    The optic neuroepithelial continuum of vertebrate eye develops into three differentially growing compartments: the retina, the ciliary margin (CM), and the retinal pigment epithelium (RPE). Neurofibromin 2 (Nf2) is strongly expressed in slowly expanding RPE and CM compartments, and the loss of mouse Nf2 causes hyperplasia in these compartments, replicating the ocular abnormalities seen in human NF2 patients. The hyperplastic ocular phenotypes were largely suppressed by heterozygous deletion of Yap and Taz, key targets of the Nf2-Hippo signaling pathway. Read More

    Neurofibromatosis Clinical Trial Consortium.
    J Child Neurol 2018 Jan;33(1):82-91
    5 University of Alabama at Birmingham, Birmingham, AL, USA.
    Neurofibromatosis type 1 and type 2, affecting both children and adults, often results in devastating complications. The rapid unravelling of the genetic underpinnings of these unique disorders has led to the development of novel therapies, especially molecular-targeted therapies. To facilitate clinical trial development, the Neurofibromatosis Clinical Trial Consortium (NFCTC) was established in 2006 by the Department of Defense. Read More

    Double somatic SMARCB1 and NF2 mutations in sporadic spinal schwannoma.
    J Neurooncol 2017 Dec 11. Epub 2017 Dec 11.
    Department of Experimental and Clinical Biomedical Sciences "Mario Serio", Medical Genetics Unit, University of Florence, Florence, Italy.
    In sporadic schwannomas, inactivation of both copies of the NF2 tumor suppressor gene on 22q is common. Constitutional mutations of SMARCB1 are responsible of schwannomatosis, an inherited tumor predisposition syndrome, characterized by the development of multiple schwannomas. We analysed the frequency of copy number changes on chromosome 22 and the mutation of NF2 and SMARCB1 in 26 sporadic schwannomas. Read More

    Gamma Knife Stereotactic Radiosurgery for Nonvestibular Cranial Nerve Schwannomas.
    World Neurosurg 2018 Feb 6;110:e1031-e1039. Epub 2017 Dec 6.
    Division of Neurosurgery, Department of Surgery, Université de Sherbrooke, Centre de Recherche du Centre Hospitalier Universitaire de Sherbrooke, Sherbrooke, Québec, Canada. Electronic address:
    Background: Nonvestibular cranial schwannomas represent a rare type of benign intracranial tumor. Few studies have evaluated the use of stereotactic radiosurgery (SRS) as a primary management option for these lesions. We performed a retrospective review of our institution's experience focusing on efficacy with regard to tumor control and clinical symptom stabilization as well as treatment safety. Read More

    Spinal ependymomas in NF2: a surgical disease?
    J Neurooncol 2018 Feb 29;136(3):605-611. Epub 2017 Nov 29.
    Department of Neurology, Salford Royal NHS Foundation Trust, Manchester Academic Health Science Centre, Manchester, UK.
    The management of spinal cord ependymomas in Neurofibromatosis Type 2 (NF2) has traditionally been conservative, in contrast to the management of sporadic cases; the assumption being that, in the context of NF2, they did not cause morbidity. With modern management and improved outcome of other NF2 tumours, this assumption, and therefore the lack of role for surgery, has been questioned. To compare the outcome of conservative treatment of spinal ependymomas in NF2 with surgical intervention in selected patients. Read More

    Voice and Swallowing Dysfunction in Neurofibromatosis 2.
    Otolaryngol Head Neck Surg 2017 Nov 1:194599817741839. Epub 2017 Nov 1.
    2 Department of Neurology, Johns Hopkins School of Medicine, Baltimore, Maryland, USA.
    Objective Neurofibromatosis 2 (NF2) is a neuro-oncologic condition that presents with bilateral vestibular schwannomas of the cerebellopontine angle (CPA). Voice and swallowing impairment can occur from direct involvement or compression of the vagus nerve or as the result of surgical excision of CPA tumors. The objectives in this study are to (1) assess the prevalence of voice and swallowing impairments and (2) analyze the effects of vagal dysfunction in patients with NF2. Read More

    Natural history of primary paediatric optic nerve sheath meningioma: case series and review.
    Br J Ophthalmol 2017 Nov 16. Epub 2017 Nov 16.
    Department of Ophthalmology, South Australian Institute of Ophthalmology, Adelaide, South Australia, Australia.
    Purpose: To study the natural history, clinical and radiological characteristics of primary paediatric optic nerve sheath meningioma (PPONSM).

    Methods: Retrospective study of eight paediatric patients who were treated between 1994 and 2016 at the University Hospital Zurich, Switzerland and the Royal Adelaide Hospital, Australia. Clinical records and imaging studies were reviewed. Read More

    Long-term Hearing Preservation After Resection of Vestibular Schwannoma: A Systematic Review and Meta-analysis.
    Otol Neurotol 2017 Dec;38(10):1505-1511
    *Department of Otolaryngology†Department of Biostatistics and Research Epidemiology, Henry Ford Health System, Detroit, Michigan.
    Objective: The objective is to perform a systematic review and meta-analysis of the literature on the long-term results of hearing preservation after vestibular schwannoma resection.

    Data Sources: Ovid/Medline, PubMed, Embase, and the Cochrane library from January 1980 to January 2015.

    Study Selection: Inclusion criteria: age ≥18 years, minimum 10 patients in the treatment group, hearing preserving microsurgery, no previous radiation treatment, serviceable hearing at immediate postop follow-up, hearing outcomes reported using Gardner Robinson or the American Academy of Otolaryngology-Head and Neck Surgeons hearing grading scales, and average follow-up of 5 years. Read More

    Molecular alterations of the NF2 gene in hepatocellular carcinoma and intrahepatic cholangiocarcinoma.
    Oncol Rep 2017 Dec 24;38(6):3650-3658. Epub 2017 Oct 24.
    Liver Research Center, Experimental Center, Beijing Friendship Hospital, Capital Medical University, Beijing 100050, P.R. China.
    Neurofibromatosis type 2 with mutations in the neurofibromin 2 (NF2) gene, encoding the Merlin protein, is an autosomal dominant disorder characterized by enhanced cancer predisposition, particularly tumors of the central nervous system. Recent animal studies indicate that disruption of NF2/Merlin function in oval cells, which are hepatic progenitor cells, may lead to the development of primary liver cancers including hepatocellular carcinoma (HCC) and intrahepatic cholangiocarcinoma (ICC); however, its role in human primary liver cancer remains unclear. In the present study, we explored the role of NF2/Merlin in human primary liver cancers. Read More

    Health literacy assessment in adults with neurofibromatosis: electronic and short-form measurement using FCCHL and Health LiTT.
    J Neurooncol 2018 Jan 8;136(2):335-342. Epub 2017 Nov 8.
    Department of Psychiatry, Behavioral Medicine Service, Massachusetts General Hospital, Harvard Medical School, One Bowdoin Square, 7th floor, Suite 758, Boston, MA, 02114, USA.
    Determining health literacy level is an important prerequisite for effective patient education. We assessed multiple dimensions of health literacy and sociodemographic predictors of health literacy in patients with neurofibromatosis. In 86 individuals with a confirmed diagnosis of neurofibromatosis 1 (NF1), neurofibromatosis 2 (NF2), or schwannomatosis, we assessed health literacy status using two HL tools-the adapted functional, communicative, and critical health literacy scale (adapted FCCHL) and health literacy assessment using talking touchscreen technology (Health LiTT). Read More

    Cellular characteristics of keratin 19-positive canine hepatocellular tumours explain its aggressive behaviour.
    Vet Rec Open 2017 21;4(1):e000212. Epub 2017 Oct 21.
    Clinical Sciences of Companion Animals, Utrecht University, Utrecht, The Netherlands.
    The expression of the hepatic progenitor cell marker keratin 19 (K19) in canine hepatocellular carcinomas is linked with a poor prognosis. To better understand this aggressive behaviour, K19-positive hepatocellular carcinomas (n=5) and K19-negative hepatocellular adenomas (n=6) were immunohistochemically stained for proteins involved in malignant tumour development. The K19-positive carcinomas showed marked positivity for platelet-derived growth factor receptor alpha polypeptide (PDGFRα), laminin, integrin beta-1/CD29, B-cell-specific Moloney murine leukaemia virus Integration site 1, glypican-3 (GPC-3) and prominin-1/CD133, in contrast with K19-negative hepatocellular adenomas. Read More

    Magnetic Resonance Imaging Appearance of Schwannomas from Head to Toe: A Pictorial Review.
    J Clin Imaging Sci 2017 3;7:38. Epub 2017 Oct 3.
    Department of Radiology, Mayo Clinic, Rochester, Minnesota, USA.
    Schwannomas are benign soft-tissue tumors that arise from peripheral nerve sheaths throughout the body and are commonly encountered in patients with neurofibromatosis Type 2. The vast majority of schwannomas are benign, with rare cases of malignant transformation reported. In this pictorial review, we discuss the magnetic resonance imaging (MRI) appearance of schwannomas by demonstrating a collection of tumors from different parts of the body that exhibit similar MRI characteristics. Read More

    Melanotic Schwannomas Are Rarely Seen Pigmented Tumors with Unpredictable Prognosis and Challenging Diagnosis.
    Case Rep Pathol 2017 3;2017:1807879. Epub 2017 Oct 3.
    Tepecik Education and Research Hospital, Izmir, Turkey.
    Melanotic Schwannoma (MS) is rarely seen and potentially malignant neoplasm that is categorized as a variant of Schwannoma. MS most frequently involves intracranial structures followed by posterior nerve roots in the spinal canal. Approximately 50% of the cases with MS have psammomatous calcifications and this type of MS is related to Carney complex with autosomal dominant inheritance. Read More

    An update on the diagnosis and treatment of vestibular schwannoma.
    Expert Rev Neurother 2018 Jan 7;18(1):29-39. Epub 2017 Nov 7.
    c Manchester Centre for Genomic Medicine, MAHSC, Division of Evolution and Genomic Science , University of Manchester , Manchester , UK.
    Introduction: Vestibular schwannomas (VS) account for approximately 85% of tumors in the cerebello-pontine angle, with a lifetime incidence of approximately 1 in 1000. Most are sporadic, with approximately 5% related to the tumor predisposition syndrome Neurofibromatosis Type 2 (NF2). The mainstays of management strategies are: observation, surgery, radiosurgery/radiotherapy and, for patients with NF2 and rapidly growing tumors or deteriorating neurologic function the targeted therapy bevacizumab. Read More

    [Diagnosis and Management of Vestibular Schwannomas - An Interdisciplinary Challenge].
    Laryngorhinootologie 2017 Apr 16;96(S 01):S152-S182. Epub 2017 Oct 16.
    Hals-Nasen-Ohren-Klinik, Universitätsklinikum Erlangen.
    Vestibular schwannomas expand slowly in the internal auditory canal, in the cerebellopontine angle, inside the cochlear and the labyrinth. Larger tumors can displace and compress the brainstem. With an annual incidence of 1:100 000 vestibular schwannoma represent 6-7% of all intracranial tumors. Read More

    Malignant Peripheral Nerve Sheath Tumors are not a Feature of Neurofibromatosis Type 2 in the Unirradiated Patient.
    Neurosurgery 2017 Jul 20. Epub 2017 Jul 20.
    Manchester Centre for Genomic Medicine, Manchester Academic Health Science Centre, Central Manchester NHS Foundation Trust, Manchester, United Kingdom.
    Background: The published literature suggests that malignant peripheral nerve sheath tumors (MPNST) occur at increased frequency in neurofibromatosis type 2 (NF2). A recent review based on incidence data in North America showed that 1 per 1000 cerebellopontine angle nerve sheath tumors were malignant.

    Objective: To determine whether MPNST occurred spontaneously in NF2 by reviewing our NF2 database. Read More

    High-Grade Glioma is not a Feature of Neurofibromatosis Type 2 in the Unirradiated Patient.
    Neurosurgery 2017 Jul 21. Epub 2017 Jul 21.
    Department of Manchester Centre for Genomic Medicine, Manchester Academic Health Science Centre, Central Manchester NHS Foundation Trust, Manchester, United Kingdom.
    Background: The Manchester criteria for neurofibromatosis type 2 (NF2) include a range of tumors, and gliomas were incorporated in the original description. The gliomas are now widely accepted to be predominantly spinal cord ependymomas.

    Objective: To determine whether these gliomas include any cases of malignant glioma (WHO grade III and IV) through a database review. Read More

    β1 integrin-dependent Rac/group I PAK signaling mediates YAP activation of Yes-associated protein 1 (YAP1) via NF2/merlin.
    J Biol Chem 2017 Nov 29;292(47):19179-19197. Epub 2017 Sep 29.
    From the Institute for Advanced Bioscience, Université Grenoble Alpes, INSERM 1209, CNRS 5309, F-38042 Grenoble, France,
    Cell adhesion to the extracellular matrix or to surrounding cells plays a key role in cell proliferation and differentiation and is critical for proper tissue homeostasis. An important pathway in adhesion-dependent cell proliferation is the Hippo signaling cascade, which is coregulated by the transcription factors Yes-associated protein 1 (YAP1) and transcriptional coactivator with PDZ-binding motif (TAZ). However, how cells integrate extracellular information at the molecular level to regulate YAP1's nuclear localization is still puzzling. Read More

    The value of intraoperative EABRs in auditory brainstem implantation.
    Int J Pediatr Otorhinolaryngol 2017 Oct 9;101:158-163. Epub 2017 Aug 9.
    New York University School of Medicine, NYU Langone Medical Center, United States.
    Objective: To compare the intraoperative electrically evoked auditory brainstem response (EABR) morphologies between neurofibromatosis II (NF2) adult auditory brainstem implant (ABI) recipients who had auditory percepts post-operatively and those who did not and between NF2 adult ABI recipients and non-NF2 pediatric ABI recipients.

    Methods: This was a retrospective case series at a single tertiary academic referral center examining all ABI recipients from 1994 to 2016, which included 34 NF2 adults and 11 non-NF2 children. The morphologies of intraoperative EABRs were evaluated for the number of waveforms showing a response, the number of positive peaks in those responses, and the latencies of each of these peaks. Read More

    Reduced RAC1 activity inhibits cell proliferation and induces apoptosis in neurofibromatosis type 2(NF2)-associated schwannoma.
    Neurol Res 2017 Dec 22;39(12):1086-1093. Epub 2017 Sep 22.
    a Beijing Neurosurgical Institute, Capital Medical University , Beijing , China.
    Objective To study the function and potential mechanism of RAC1 inhibitors in NF2-associated schwannoma. Methods In this study, we the downregulation of RAC1 activity and tumor cell phenotypes by RAC1 inhibitor NSC23766 in vitro. And we further validated the anti-proliferation effect by this RAC1 inhibitor in subcutaneous xenograft tumor model and sciatic nerve model. Read More

    Parasagittal meningioma: A not so benign entity.
    Med Sci Law 2017 Oct 19;57(4):175-178. Epub 2017 Sep 19.
    School of Medicine, The University of Adelaide, Australia.
    While the majority of intracranial meningiomas have an indolent clinical course, sudden and unexpected death may rarely occur. Two cases are reported to demonstrate rapid clinical deterioration resulting in death in individuals with large, grade I, parasagittal meningiomas. Case 1 was a 46-year-old man with a history of headaches and epilepsy who suddenly collapsed and died. Read More

    Osteoglycin promotes meningioma development through downregulation of NF2 and activation of mTOR signaling.
    Cell Commun Signal 2017 Sep 18;15(1):34. Epub 2017 Sep 18.
    Center for Skull Base and Pituitary Surgery, Department of Neurosurgery, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, USA.
    Background: Meningiomas are the most common primary intracranial tumors in adults. While a majority of meningiomas are slow growing neoplasms that may cured by surgical resection, a subset demonstrates more aggressive behavior and insidiously recurs despite surgery and radiation, without effective alternative treatment options. Elucidation of critical mitogenic pathways in meningioma oncogenesis may offer new therapeutic strategies. Read More

    Anti-VEGF treatment improves neurological function in tumors of the nervous system.
    Exp Neurol 2018 Jan 11;299(Pt B):326-333. Epub 2017 Sep 11.
    Edwin Steele Laboratories, Department of Radiation Oncology, Massachusetts General Hospital, Harvard Medical School, Boston, MA 02114, USA. Electronic address:
    Research of various diseases of the nervous system has shown that VEGF has direct neuroprotective effects in the central and peripheral nervous systems, and indirect effects on improving neuronal vessel perfusion which leads to nerve protection. In the tumors of the nervous system, VEGF plays a critical role in tumor angiogenesis and tumor progression. The effect of anti-VEGF treatment on nerve protection and function has been recently reported - by normalizing the tumor vasculature, anti-VEGF treatment is able to relieve nerve edema and deliver oxygen more efficiently into the nerve, thus reducing nerve damage and improving nerve function. Read More

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