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    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

    Meningioangiomatosis Without Neurofibromatosis Type 2.
    World J Oncol 2012 Jun 5;3(3):127-133. Epub 2012 Jul 5.
    Department of Neurosurgery, San Salvatore Hospital, L'Aquila, Italy.
    Meningioangiomatosis (MA) is a rare, benign hamartomatous lesion found in cerebral cortex and leptomeninges. It occurs mostly in 5 - 15 year old children in form isolated or diffuse; the diffuse form may be associated with neurofibromatosis type 2 (NF2). The sporadic type in the adults is less common. 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 2017 Nov 8. 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 2017 Nov 7:1-11. 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

    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 2017 Sep 11. 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

    Surgery versus stereotactic radiosurgery for the treatment of multiple meningiomas in neurofibromatosis type 2: illustrative case and systematic review.
    Neurosurg Rev 2017 Sep 13. Epub 2017 Sep 13.
    Department of Neurosurgery, David Geffen School of Medicine, University of California-Los Angeles, Los Angeles, CA, USA.
    Neurofibromatosis type 2 (NF2) is a genetic neoplastic disorder that presents with hallmark bilateral vestibular schwannomas and multiple meningiomas. Though the current standard of care for meningiomas includes surgery, the multiplicity of meningiomas in NF2 patients renders complete resection of all developing lesions infeasible. Stereotactic radiosurgery (SRS) may be a viable non-invasive therapeutic alternative to surgery. Read More

    Clinicopathological variables of sporadic schwannomas of peripheral nerve in 291 patients and expression of biologically relevant markers.
    J Neurosurg 2017 Sep 8:1-10. Epub 2017 Sep 8.
    Neurosurgery and.
    OBJECTIVE While sporadic peripheral schwannomas (SPSs) are generally well treated with surgery, their biology is not well understood. Consequently, treatment options are limited. The aim of this study was to provide a comprehensive description of SPS. Read More

    A systematic review of radiosurgery versus surgery for neurofibromatosis type 2 vestibular schwannomas.
    World Neurosurg 2017 Sep 4. Epub 2017 Sep 4.
    Department of Neurosurgery, University of California Los Angeles, 300 Stein Plaza, 5th Floor Wasserman Bldg., Los Angeles, CA 90095-6901, USA; Department of Radiation Oncology, University of California Los Angeles, 200 UCLA Medical Plaza, Suite B265, Los Angeles, CA 90095-6951, USA; Department of Head and Neck Surgery, University of California Los Angeles, 200 UCLA Medical Plaza, Suite 550, Los Angeles, CA 90095-6901, USA; Jonsson Comprehensive Cancer Center, University of California Los Angeles, 200 UCLA Medical Plaza, Suite B265, Los Angeles, CA 90095-6951, USA. Electronic address:
    Objective: Neurofibromatosis type 2 (NF2) is an autosomal dominant disease characterized by bilateral vestibular schwannomas (VS). NF2-associated VS (NF2-VS) are routinely treated with microsurgery; however, stereotactic radiosurgery (SRS) has emerged as an effective alternative in recent decades. To better elucidate the role of SRS in NF2-VS, a systematic review of the literature was conducted to compare outcomes of SRS versus surgery. Read More

    [Tumors of the inner ear and adjacent structures].
    Pathologe 2017 Nov;38(6):521-528
    Abteilung Neuropathologie, Department für Pathologie und Neuropathologie und Zentrum für Neuroonkologie, Comprehensive Cancer Center, Universitätsklinikum Tübingen, Eberhard-Karls-Universität Tübingen, Calwerstr. 3, 72076, Tübingen, Deutschland.
    Tumors of the inner ear and adjacent structures often present with hearing loss, tinnitus and vertigo due to compression of the traversing cranial nerves. More than 90% of the tumors of the inner ear with or without expansion into the cerebellopontine angle are histologically diagnosed as vestibular schwannomas. Less common tumorous lesions include ectopic meningiomas located in the petrous bone, glomus tympanicum paragangliomas or endolymphatic sac tumors (ELST) originating in the vestibular recess. 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

    Voxel-based lesion mapping of meningioma: a comprehensive lesion location mapping of 260 lesions.
    J Neurosurg 2017 Sep 1:1-6. Epub 2017 Sep 1.
    Department of Neurosurgery, Osaka University Graduate School of Medicine, Suita, Osaka; and.
    OBJECTIVE In the present study the authors aimed to determine preferred locations of meningiomas by avoiding descriptive analysis and instead using voxel-based lesion mapping and 3D image-rendering techniques. METHODS Magnetic resonance images obtained in 248 treatment-naïve meningioma patients with 260 lesions were retrospectively and consecutively collected. All images were registered to a 1-mm isotropic, high-resolution, T1-weighted brain atlas provided by the Montreal Neurological Institute (the MNI152), and a lesion frequency map was created, followed by 3D volume rendering to visualize the preferred locations of meningiomas in 3D. Read More

    Genetic Severity Score predicts clinical phenotype in NF2.
    J Med Genet 2017 Oct 28;54(10):657-664. Epub 2017 Aug 28.
    Oxford NF2 Unit, Neurosciences, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.
    ​BACKGROUND: The clinical severity of disease in neurofibromatosis type 2 (NF2) is variable. Patients affected with a constitutional truncating NF2 mutation have severe disease, while missense mutations or mosaic mutations present with a milder attenuated phenotype. Genotype-derived natural history data are important to inform discussions on prognosis and management. Read More

    Vestibular schwannoma appears to be very rare in a region of Sub-Saharan Africa.
    Surg Neurol Int 2017 1;8:171. Epub 2017 Aug 1.
    Neurosurgery Department, Memfys Hospital for Neurosurgery, Enugu, Nigeria.
    Background: Vestibular schwannoma (VS) is a significant neurosurgical problem hence it enjoys a special attention at conferences and workshops. It accounts for about 8-10% of all intracranial tumors with an annual incidence of about 11-14 per million per year. Most VS are sporadic with 5-10% attributed to neurofibromatosis type 2 (NF2). Read More

    A CASE OF NEUROFIBROMATOSIS TYPE 2 WITH UNUSUAL CLINICAL FEATURES.
    Retin Cases Brief Rep 2017 Aug 21. Epub 2017 Aug 21.
    Eye Research Center, Department of Ophthalmology, Farabi Eye Hospital, Tehran University of Medical Sciences, Tehran, Iran.
    Purpose: To report a case of a neurofibromatosis Type 2 with unusual clinical features.

    Methods: Observational clinical case report.

    Results: A 22-year-old woman was referred with bilateral blurred vision and macular "scars. Read More

    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 Oct 3;36(5):378-383. 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 Nov 3;16(11):2387-2398. Epub 2017 Aug 3.
    Division of Neuroscience, Burnett School of Biomedical Science, College of Medicine, University of Central Florida, Orlando, 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 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 Sep;74(9):1123-1129
    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, 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

    Novel insights into mesothelioma biology and implications for therapy.
    Nat Rev Cancer 2017 Jul;17(8):475-488
    University of Leicester, Leicester LE1 9HN, UK.
    Malignant mesothelioma is a universally lethal cancer that is increasing in incidence worldwide. There is a dearth of effective therapies, with only one treatment (pemetrexed and cisplatin combination chemotherapy) approved in the past 13 years. However, the past 5 years have witnessed an exponential growth in our understanding of mesothelioma pathobiology, which is set to revolutionize therapeutic strategies. 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 Oct 22;135(1):47-56. 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 Sep 20;77(18):5026-5038. Epub 2017 Jul 20.
    Cancer Biology Program, Fox Chase Cancer Center, Philadelphia, Pennsylvania.
    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 Characteristics and Progressive Disability in Neurofibromatosis Type 2.
    World Neurosurg 2017 Oct 16;106:653-660. Epub 2017 Jul 16.
    Department of Neurosurgery, Fukushima Medical University, Fukushima City, Japan.
    Objective: To characterize the clinical features of patients with neurofibromatosis type 2 (NF2) and determine prognostic risk factors for progressive disabilities.

    Methods: In this retrospective cohort study of the Japanese national NF2 registry between 2009 and 2013, clinical data (demographic, history, oncologic, and neurologic) of 807 patients with a diagnosis of NF2 were analyzed. The overall severity of neurologic disability was assessed using a comprehensive 25-point scoring system encompassing a wide variety of neurologic 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 Nov 10;36(44):6132-6142. 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

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