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

    Isolated cranio-orbitofacial neurofibroma mimicking vascular malformation.
    Orbit 2017 Aug 18:1-4. Epub 2017 Aug 18.
    d Dept. of Ophthalmology , School of Medicine, University of California, Davis , Sacramento , California , USA.
    Isolated neurofibromas in the absence of systemic neurofibromatosis are known as solitary or localized neurofibromas. When present in the orbit, these lesions may appear clinically and radiographically similar to other tumors, complicating diagnosis and management. Key radiographic signs may guide clinicians to the correct diagnosis when the presentation and patient demographic data obfuscate the disease entity. Read More

    The pregnancy in neurofibromatosis 1: A retrospective register-based total population study.
    Am J Med Genet A 2017 Aug 16. Epub 2017 Aug 16.
    University of Turku, Turku, Finland.
    The objective of this retrospective total population study was to form a view of the pregnancies of the patients with neurofibromatosis type 1 (NF1). A cohort of 1,410 Finnish patients with NF1 was acquired by searching NF1-related inpatient and outpatient hospital visits and confirming the diagnoses by reviewing the medical records. Ten matched control persons per patient with NF1 were collected from Population Register Centre. Read More

    Constipation in adults with neurofibromatosis type 1.
    Orphanet J Rare Dis 2017 Aug 16;12(1):139. Epub 2017 Aug 16.
    NIDO | Danmark, Research in Education and Health, West Danish Hospital, HEV, Gl. Landevej 61, 7400, Herning, Denmark.
    Background: Neurofibromatosis type 1 (NF1) is an autosomal-dominant disease characterised by symptoms of the skin, eyes, nervous system and bones. A previous study indicated that constipation, large rectal diameters and prolonged colorectal transit times are common in children with NF1. The aim of the present study was to investigate and compare the prevalence of gastrointestinal symptoms in adult patients with NF1 to their unaffected relatives serving as the control group. Read More

    Expression and inhibition of BRD4, EZH2 and TOP2A in neurofibromas and malignant peripheral nerve sheath tumors.
    PLoS One 2017 15;12(8):e0183155. Epub 2017 Aug 15.
    Department of Medical Oncology, Erasmus MC Cancer Institute, Erasmus University Medical Center, Rotterdam, The Netherlands.
    Malignant peripheral nerve sheath tumors (MPNST) are rare, highly aggressive sarcomas that can occur spontaneously or from pre-existing plexiform neurofibromas in neurofibromatosis type1 (NF1) patients. MPNSTs have high local recurrence rates, metastasize easily, are generally resistant to therapeutic intervention and frequently fatal for the patient. Novel targeted therapeutic strategies are urgently needed. Read More

    Soft Tissue Perineurioma in a Child With Neurofibromatosis Type 1: A Case Report and Review of the Literature.
    Pediatr Dev Pathol 2017 Sep-Oct;20(5):444-448. Epub 2017 Jan 25.
    1 Department of Cellular Pathology, St Thomas' Hospital, London, UK.
    Soft tissue perineurioma is a rare benign peripheral nerve sheath tumor, especially in children. This manuscript presents an unusual case of soft tissue perineurioma in a 10-year-old boy with neurofibromatosis type 1. The patient presented with a lump in the region of the right breast. Read More

    CRISPR/Cas9 editing of Nf1 gene identifies CRMP2 as a therapeutic target in neurofibromatosis type 1 (NF1)-related pain that is reversed by (S)-Lacosamide.
    Pain 2017 Jul 3. Epub 2017 Jul 3.
    1Departments of Pharmacology, 2Anesthesiology, and 3Neuroscience, College of Medicine, University of Arizona, Tucson, AZ 85724, USA; 4Department of Biological Chemistry, University of Science and Technology and Center for Neuro-Medicine, Brain Science Institute, Korea Institute of Science and Technology, Seoul 136-791, Republic of Korea, and 5Department of Collaborative Research, Mayo Clinic, Phoenix, USA.
    Neurofibromatosis type 1 (NF1) is a rare autosomal dominant disease linked to mutations of the Nf1 gene. NF1 patients commonly experience severe pain. Studies on mice with Nf1 haploinsufficiency have been instructive in identifying sensitization of ion channels as a possible cause underlying the heightened pain suffered by NF1 patients. Read More

    Malignant transformation of a conservatively managed incidental childhood cerebral mass lesion: controversy regarding management paradigm.
    Childs Nerv Syst 2017 Aug 14. Epub 2017 Aug 14.
    Departments of Neurosurgery and Pediatric Neurosurgery, Tel Aviv Medical Center & Dana Children's Hospital, 6 Weizmann Street, Tel Aviv, Israel.
    Background: Incidental findings on neuroimaging in the pediatric population are an emerging treatment challenge. Treatment options for these incidental childhood brain mass lesions, which radiologically may be assumed to be low-grade gliomas (LGG), vary, ranging from careful conservative "wait and scan" treatment to surgical biopsy, gross total resection, and upfront radiation and/or chemotherapy. As malignant transformation of LGG in children is extremely rare, some series advocate careful conservative management of these lesions; however, universal treatment protocols are not totally agreed upon. Read More

    Intrathecal catheter-associated inflammatory mass in a neurofibromatosis type-1 patient receiving fentanyl and bupivacaine.
    Surg Neurol Int 2017 25;8:159. Epub 2017 Jul 25.
    Department of Neurological Surgery, University of California, San Francisco, California, USA.
    Background: Catheter-associated inflammatory masses (CIMs) are a rare but serious complication of intrathecal drug delivery devices. CIM formation is influenced by local medication concentration, which is determined in part by flow dynamics at the catheter tip. Underlying spinal pathologies, such as neoplasms, may alter flow at the catheter tip, thereby contributing to CIM formation. Read More

    Optic Pathway Gliomas in Neurofibromatosis Type 1: An Update: Surveillance, Treatment Indications, and Biomarkers of Vision.
    J Neuroophthalmol 2017 Sep;37 Suppl 1:S23-S32
    Cancer and Blood Diseases Institute (PMKdB), Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio; Department of Pediatrics (PMKdB), University of Cincinnati College of Medicine, Cincinnati, Ohio; Division of Oncology (MJF), Children's Hospital of Philadelphia, Philadelphia, Pennsylvania; Department of Pediatrics (MJF), Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania; Neuro-Ophthalmology Service (GTL, RAA), Children's Hospital of Philadelphia, Philadelphia, Pennsylvania; Departments of Neurology and Ophthalmology (GTL, RAA), Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania; Neurofibromatosis Center and Department of Neurology (DHG), Washington University, St. Louis, Missouri; Department of Pediatrics (RL), Ann & Robert H. Lurie Children's Hospital of Chicago, Feinberg School of Medicine, Northwestern University, Chicago, Illinois; Neurofibromatosis Centre, Department of Neurology (REF), Guy's and St. Thomas' NHS Foundation Trust; and Department of Clinical Neuroscience (REF), King's College, London, United Kingdom.
    Optic pathway gliomas (OPGs) occur in 15%-20% of children with neurofibromatosis type 1 (NF1), leading to visual deficits in fewer than half of these individuals. The goal of chemotherapy is to preserve vision, but vision loss in NF1-associated OPG can be unpredictable. Determining which child would benefit from chemotherapy and, equally important, which child is better observed without treatment can be difficult. 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

    Updated nomenclature for human and mouse neurofibromatosis type 1 genes.
    Neurol Genet 2017 Aug 26;3(4):e169. Epub 2017 Jul 26.
    Department of Neurology (C.A., D.H.G.), Washington University in St. Louis, MO; Department of Dermatology (L.Q.L.), University of Texas Southwestern Medical Center, Dallas; and Department of Genetics (R.A.K.), The University of Alabama at Birmingham.

    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

    Spinal and Paraspinal Plexiform Neurofibromas in Patients with Neurofibromatosis Type 1: A Novel Scoring System for Radiological-Clinical Correlation.
    AJNR Am J Neuroradiol 2017 Aug 10. Epub 2017 Aug 10.
    From the Gilbert Israeli NF Center (M.M.-H., B.S., S.B.-S., L.B.-S., S.C., F.B.), Pediatric Radiology Unit (M.M.-H., L.B.-S.), Pediatric Neurosurgery (B.S., S.C.), and Neuro-Oncology Service (F.B.), Dana Children's Hospital, Tel-Aviv Medical Center, and Tel-Aviv University, Tel-Aviv, Israel.
    Background And Purpose: Neurofibromatosis type 1 is a common tumor predisposition syndrome. The aim of this study was to characterize the radiologic presentation of patients with neurofibromatosis type 1 with widespread spinal disease and to correlate it to clinical presentation and outcome.

    Materials And Methods: We conducted a historical cohort study of adult patients with neurofibromatosis type 1 with spinal involvement. Read More

    Neurological comorbidity in children with neurofibromatosis type 1.
    Pediatr Int 2017 Aug 10. Epub 2017 Aug 10.
    Department of Pediatrics, Faculty of Medicine, Saga University, 5-1-1 Nabeshima, Saga, 849-8501, Japan.
    Objective: To determine the frequency of central nervous system comorbidities in children with neurofibromatosis type 1 (NF1).

    Methods: We performed a nationwide survey to investigate neurological comorbidities in 3-15-year-old children with NF1 in Japan by sending questionnaires to pediatricians and pediatric neurologists. A secondary questionnaire was sent to the parents of identified NF1 patients to assess neurological comorbidities including headache, attention deficit hyperactivity disorder (ADHD)-Rating Scale (RS), and the Social Responsiveness Scale -2. Read More

    Schwannoma of the penis, presenting as a scrotal mass, rare entity with an uncommon presentation.
    Urol Ann 2017 Jul-Sep;9(3):301-303
    Department of General Surgery, R.I.M.S, Ranchi, Jharkhand, India.
    Schwannomas are benign nerve sheath tumors that are seen either sporadically or in patients of neurofibromatosis. This tumor is common in head, neck, and extremities. Penis is a rare site for this tumor. Read More

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

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

    Psychosocial functioning, self-image, and quality of life in children and adolescents with neurofibromatosis type 1.
    Child Care Health Dev 2017 Aug 3. Epub 2017 Aug 3.
    Department of General Psychology, University of Padua, Padua, Italy.
    Background: Neurofibromatosis type 1 (NF1) is a genetic disorder associated with neurocutaneus manifestations, as well as attention and learning problems. The aim of this study was to examine the psychosocial functioning, quality of life, and self-image of children with NF1.

    Method: Two hundred forty participants were recruited, comprising 60 children and adolescents with NF1, 60 parents of children with NF1, 60 children and adolescents without NF1, and 60 parents of children without NF1. Read More

    Significance of H3K27me3 loss in the diagnosis of malignant peripheral nerve sheath tumors.
    Mod Pathol 2017 Aug 4. Epub 2017 Aug 4.
    Department of Pathology, University of California San Francisco, San Francisco, CA, USA.
    The diagnosis of malignant peripheral nerve sheath tumors can be challenging and other spindle cell sarcomas commonly enter in the differential diagnosis. Loss of trimethylation at lysine 27 of histone-H3 (H3K27me3) by immunohistochemistry was recently described in malignant peripheral nerve sheath tumors. However, its specificity remains controversial. Read More

    Identification of an atypical microdeletion generating the RNF135-SUZ12 chimeric gene and causing a position effect in an NF1 patient with overgrowth.
    Hum Genet 2017 Aug 3. Epub 2017 Aug 3.
    Dipartimento di Biotecnologie Mediche e Medicina Traslazionale, Università degli Studi di Milano, Via Viotti 3/5, 20133, Milan, Italy.
    Neurofibromatosis type I (NF1) microdeletion syndrome, which is present in 4-11% of NF1 patients, is associated with a severe phenotype as it is caused by the deletion of NF1 and other genes in the 17q11.2 region. The variable expressivity of the disease makes it challenging to establish genotype-phenotype correlations, which also affects prognosis and counselling. Read More

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

    Monitoring of plexiform neurofibroma in children and adolescents with neurofibromatosis type 1 by [(18) F]FDG-PET imaging. Is it of value in asymptomatic patients?
    Pediatr Blood Cancer 2017 Aug 3. Epub 2017 Aug 3.
    Division of Nuclear Medicine, Department of Biomedical Imaging and Image-Guided Therapy, Medical University of Vienna, Vienna, Austria.
    Purpose: About 10% of patients with neurofibromatosis type 1 (NF-1) develop malignant peripheral nerve sheath tumours (MPNST) mostly arising in plexiform neurofibroma (PN); 15% of MPNST arise in children and adolescents. 2-[(18) F]fluoro-2-deoxy-d-glucose ([(18) F]FDG)-PET (where PET is positron emission tomography) is a sensitive method in differentiating PN and MPNST in symptomatic patients with NF-1. This study assesses the value of [(18) F]FDG-PET imaging in detecting malignant transformation in symptomatic and asymptomatic children with PN. Read More

    Dissecting the role of the CRMP2-Neurofibromin complex on pain behaviors.
    Pain 2017 Jul 31. Epub 2017 Jul 31.
    1Departments of Pharmacology College of Medicine, University of Arizona, Tucson, Arizona 85724, USA 2Departments of Anesthesiology College of Medicine, University of Arizona, Tucson, Arizona 85724, USA 3Departments of Neuroscience Graduate Interdisciplinary Program, College of Medicine, University of Arizona, Tucson, Arizona 85724, USA 4Departments of Chemistry and Biochemistry, College of Science, University of Arizona, Tucson, Arizona 85721, USA.
    Neurofibromatosis type 1 (NF1), a genetic disorder linked to inactivating mutations or homozygous deletion of the Nf1 gene, is characterized by tumorigenesis, cognitive dysfunction, seizures, migraine, and pain. Omic studies on human NF1 tissues identified an increase in expression of collapsin response mediator protein 2 (CRMP2), a cytosolic protein reported to regulate the trafficking and activity of presynaptic N-type voltage-gated calcium (Cav2.2) channels. Read More

    Phenotype analysis of congenital and neurodevelopmental disorders in the next generation sequencing era.
    Am J Med Genet C Semin Med Genet 2017 Aug 2. Epub 2017 Aug 2.
    Department of Pediatrics, Division of Medical Genetics, University of Utah Health, Salt Lake City, Utah.
    The designation, phenotype, was proposed as a term by Wilhelm Johannsen in 1909. The word is derived from the Greek, phano (showing) and typo (type), phanotypos. Phenotype has become a widely recognized term, even outside of the genetics community, in recent years with the ongoing identification of human disease genes. Read More

    Improved union and bone strength in a mouse model of NF1 pseudarthrosis treated with recombinant human bone morphogenetic protein-2 and zoledronic acid.
    J Orthop Res 2017 Aug 2. Epub 2017 Aug 2.
    Orthopaedic Research & Biotechnology Unit, The Children's Hospital at Westmead, Sydney, Australia.
    Tibial pseudarthrosis associated with Neurofibromatosis type 1 (NF1) is an orthopedic condition with consistently poor clinical outcomes. Using a murine model that features localized double inactivation of the Nf1 gene in an experimental tibial fracture, we tested the effects of recombinant human bone morphogenetic protein-2 (rhBMP-2) and/or the bisphosphonate zoledronic acid (ZA). Tibiae were harvested at 3 weeks for analysis, at which time there was negligible healing in un-treated control fractures (7% union). Read More

    [Pediatric brain tumors].
    Radiologe 2017 Aug 1. Epub 2017 Aug 1.
    Klinik für Diagnostische und Interventionelle Neuroradiologie, Universitätsklinikum des Saarlandes, Kirrberger Straße, 66421, Homburg/Saar, Deutschland.
    Brain tumors differ between children and adults both in histology and localization. Malignant gliomas and meningiomas predominate in adults while medulloblastomas and low-grade astrocytomas are the most frequent brain tumors in children. More than one half (50-70%) of pediatric brain tumors have an infratentorial location but only approximately 30% in adults. Read More

    Impact on GABA systems in monogenetic developmental CNS disorders: Clues to symptomatic treatment.
    Neuropharmacology 2017 Jul 29. Epub 2017 Jul 29.
    Institute of Pharmacology and Toxicology, University of Zurich, Winterthurerstrasse 190, CH-8057 Zurich, Switzerland; Neuroscience Center Zurich, Winterthurerstrasse 190, CH-8057 Zurich, Switzerland; Department of Chemistry and Applied Biosciences, Swiss Federal Institute of Technology (ETH), Vladimir-Prelog-Weg 10, 8023 Zurich, Switzerland. Electronic address:
    Animal studies of several single-gene disorders demonstrate that reversing the molecular signaling deficits can result in substantial symptomatic improvements in function. Focusing on the ratio of excitation to inhibition as a potential pathophysiological hallmark, seven single-gene developmental CNS disorders are reviewed which are characterized by a striking dysregulation of neuronal inhibition. Deficits in inhibition and excessive inhibition are found. 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

    Large Solitary Neurofibroma of Face in a Paediatric Patient.
    J Clin Diagn Res 2017 Jun 1;11(6):ZD04-ZD06. Epub 2017 Jun 1.
    Postgraduate Student, Department of Prosthodontics, School of Dental Sciences, Karad, Maharashtra, India.
    Neurofibroma is a rare, benign, neurogenic tumour which may present as multiple lesions as a part of neurofibromatosis syndrome or as a solitary mass. This paper reports a case of large solitary neurofibroma of face in a young female patient. Clinical presentation, imaging characteristics and management of the pathology has been described in detail. Read More

    Genetic associations of intracranial aneurysm formation and sub-arachnoid hemorrhage.
    Asian J Neurosurg 2017 Jul-Sep;12(3):374-381
    Department of Neurosurgery, Miller School of Medicine, University of Miami, Miami, FL, USA.
    Risk factors for cerebral aneurysms typically include age, hypertension, smoking, and alcohol usage. However, the possible connection of aneurysms with genetic conditions such as Marfan's syndrome, polycystic kidney disease, and neurofibromatosis raises the question of possible genetic risk factors for aneurysm, and additionally, genetic risk factors for rupture. We conducted a literature review using the PubMed database for studies regarding genetic correlation with cerebral aneurysm formation as well as rupture from December 2008 to Jun 2015. Read More

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

    68Ga-PSMA Uptake in Neurofibromas Demonstrated on PET/CT in a Patient With Neurofibromatosis Type 1.
    Clin Nucl Med 2017 Jul 29. Epub 2017 Jul 29.
    From the Queensland PET Service, Royal Brisbane and Women's Hospital, Brisbane, Queensland, Australia.
    We present a case of Ga-PSMA PET/CT imaging of PSMA expression in neurofibromas in a patient with neurofibromatosis type 1 (or von Recklinghausen disease). PSMA uptake has previously been demonstrated in schwannomas both with PET and histological staining. The presented images confirm that PSMA expression in cutaneous neurofibromas can be well imaged with PET, with uptake mostly at relatively low levels. Read More

    Insidious malignant triton tumor of the chest wall with late flare-up.
    Ci Ji Yi Xue Za Zhi 2016 Jul-Sep;28(3):121-123. Epub 2014 Dec 19.
    Department of Hematology-Oncology, Taichung Tzu Chi Hospital, Buddhist Tzu Chi Medical Foundation, Taichung, Taiwan.
    Malignant triton tumor is a rare malignant peripheral nerve sheath tumor with rhabdomyoblastic differentiation. Most of these tumors are located in the head, neck, and extremities, and about half of cases are associated with neurofibromatosis type 1 featuring cafe-au-lait spots or cutaneous neurofibromas. We present a 76-year-old man with an insidious chest wall tumor with late progressive painful enlargement and pleural and pulmonary involvement. Read More

    A novel SHANK3 interstitial microdeletion in a family with intellectual disability and brain MRI abnormalities resembling Unidentified Bright Objects.
    Eur J Paediatr Neurol 2017 Jul 20. Epub 2017 Jul 20.
    Department of Translational Medicine (Section of Pediatrics), Federico II University, Naples, Italy.
    Background: SHANK3 mutations are responsible for Phelan-McDermid syndrome but they are also associated with autism and/or intellectual disability.

    Case Report: We report a family with four affected individuals including the 37 year-old mother, her 12 year-old male monozygotic twins and 8 year-old daughter harboring a novel SHANK3 interstitial microdeletion. All four members presented with intellectual disability of variable severity. Read More

    Synergistic Interplay between Curcumin and Polyphenol-Rich Foods in the Mediterranean Diet: Therapeutic Prospects for Neurofibromatosis 1 Patients.
    Nutrients 2017 Jul 21;9(7). Epub 2017 Jul 21.
    Division of Neurology, Center for Rare Diseases & Inter University Center for Research in Neurosciences, Department of Medical, Surgical, Neurologic, Metabolic and Aging Sciences, University of Campania Luigi Vanvitelli, via Sergio Pansini, 5, 80131 Naples, Italy.
    Neurofibromas are the hallmark lesions in Neurofibromatosis 1 (NF1); these tumors are classified as cutaneous, subcutaneous and plexiform. In contrast to cutaneous and subcutaneous neurofibromas, plexiform neurofibromas can grow quickly and progress to malignancy. Curcumin, a turmeric-derived polyphenol, has been shown to interact with several molecular targets implicated in carcinogenesis. Read More

    Effect of higher implant density on curve correction in dystrophic thoracic scoliosis secondary to neurofibromatosis Type 1.
    J Neurosurg Pediatr 2017 Jul 28:1-7. Epub 2017 Jul 28.
    Department of Spine Surgery, Drum Tower Hospital, Nanjing University Medical School, Nanjing, China.
    OBJECTIVE The aim of this study was to investigate how implant density affects radiographic results and clinical outcomes in patients with dystrophic scoliosis secondary to neurofibromatosis Type 1 (NF1). METHODS A total of 41 patients with dystrophic scoliosis secondary to NF1 who underwent 1-stage posterior correction between June 2011 and December 2013 were included. General information about patients was recorded, as were preoperative and postoperative scores from Scoliosis Research Society (SRS)-22 questionnaires. Read More

    Loss of H3K27 trimethylation is not suitable for distinguishing malignant peripheral nerve sheath tumor from melanoma: a study of 387 cases including mimicking lesions.
    Mod Pathol 2017 Jul 28. Epub 2017 Jul 28.
    Department of Biopathology, Institut Bergonié, Bordeaux, France.
    The diagnosis of malignant peripheral nerve sheath tumor remains challenging, especially in the sporadic setting. Malignant peripheral nerve sheath tumor is a rare malignancy, and owing to the lack of specific histological criteria, immunohistochemical and molecular diagnostic markers, several differential diagnoses must be considered, in particular melanoma. Recently, inactivation of the polycomb repressive complex 2 (PRC2), induced by inactivating mutations in two of its critical constituents SUZ12 and EED, was reported in a large subset of malignant peripheral nerve sheath tumors. Read More

    Composite Pheochromocytoma/Paraganglioma-Ganglioneuroma: A Clinicopathologic Study of Eight Cases with Analysis of Succinate Dehydrogenase.
    Endocr Pathol 2017 Jul 27. Epub 2017 Jul 27.
    Department of Laboratory Medicine and Pathology, Mayo Clinic, 200 First Street SW, Rochester, MN, 55905, USA.
    Ganglioneuromas represent the most well-differentiated spectrum of neoplasia arising from the sympathetic nervous system, while neuroblastomas represent the most poorly differentiated counterpart, and ganglioneuroblastomas represent intermediate stages of differentiation. Small series of cases have documented the co-occurrence of ganglioneuroma with a pheochromocytoma (Pheo)/paraganglioma (PGL) component. We report the clinicopathologic features of eight such cases, diagnosed between 2003 and 2015 with a mean follow-up of 22 months (1-47), which were evaluated for syndrome associations, SDHB expression, and clinical outcome. Read More

    Importance of Sonography for Guiding Central Venous Cannulation in Patients with Neurofibromatosis.
    Turk J Anaesthesiol Reanim 2017 Jun 27;45(3):169-171. Epub 2017 Apr 27.
    All India Institute of Medical Sciences, New Delhi, India.
    A 15-year-old boy with neurofibromatosis type 1 (NF1) was referred to us for central venous catheter insertion, and on ultrasound of the neck, he was found to have extensive involvement of the brachial plexus due to the nerve sheath tumour. Multiple hypoechogenic lesions resembling the internal jugular vein and internal carotid artery were visualised and could be differentiated from the vessels by Doppler ultrasound. The importance of analyzing sonographic images of nerve sheath tumours, which can mimic blood vessels, and the importance of Doppler ultrasound for guiding central venous catheters in such patients to avoid nerve injury are discussed in this case report. Read More

    The absence that makes the difference: choroidal abnormalities in Legius syndrome.
    J Hum Genet 2017 Jul 27. Epub 2017 Jul 27.
    Medical Genetics Unit Woman, Child and Newborn department, IRCSS Foundation, Ca' Granda-Ospedale Maggiore Policlinico, Milan, Italy.
    Neurofibromatosis type 1 (NF1) is an hereditary disorder characterized by abnormal proliferation of multiple tissues of neural crest origin, and presents mainly with multiple café-au-lait macules, axillary freckling and neurofibromas. Choroidal involvement in NF1 patients has been studied, thanks to the development of non-invasive tools such as infrared monochromatic light during fundus examination, which showed bright patchy lesions consistent with choroidal nodules. Choroidal abnormalities identified with near-infrared reflectance have reported with a frequency of up to 100% in NF1, and have been recently been proposed as a novel diagnostic criterion for NF1. Read More

    Modification of pedicle lengthening through perforator transposition in free anterolateral thigh flaps with pedicle size discrepancy: A case report.
    Microsurgery 2017 Jul 26. Epub 2017 Jul 26.
    Department of Plastic and Reconstructive Surgery, College of Medicine, The Catholic University of Korea, Seoul, Republic of Korea.
    In spite of thorough presurgical planning, emergency situations requiring longer pedicle length may arise during anterolateral thigh (ALT) free flap surgeries. While performing vessel graft for pedicle lengthening, discrepancy may occur because of a certain genetic predisposition or vascular variation at the anastomosis site of the graft vessel and the flap pedicle. A 76-year-old male patient with neurofibromatosis type I had a 15 x 10 cm defect, which was caused by radical excision of a malignant peripheral nerve sheath tumor on his back. Read More

    A case report: hypercalcemia due to vitamin supplementation in a patient with neurofibromatosis.
    Clin Cases Miner Bone Metab 2017 Jan-Apr;14(1):87-88. Epub 2017 May 30.
    College of Osteopathic Medicine, Touro University California, Vallejo, USA.
    A 54-year-old female with history of neurofibromatosis who presented with severe hypercalcemia and renal failure secondary to over supplementation of calcium and vitamin D. 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

    Risky Decision Making in Neurofibromatosis Type 1: An Exploratory Study.
    Biol Psychiatry Cogn Neurosci Neuroimaging 2017 Mar;2(2):170-179
    Semel Institute for Neuroscience and Human Behavior, University of California-Los Angeles.
    Background: Neurofibromatosis type 1 (NF1) is a monogenic disorder affecting cognitive function. About one third of children with NF1 have attentional disorders, and the cognitive phenotype is characterized by impairment in prefrontally-mediated functions. Mouse models of NF1 show irregularities in GABA release and striatal dopamine metabolism. Read More

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