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    NF1+/- hematopoietic cells accelerate malignant peripheral nerve sheath tumor development without altering chemotherapy response.
    Cancer Res 2017 Jun 23. Epub 2017 Jun 23.
    Radiation Oncology, Duke University Medical Center
    Haploinsufficiency in the tumor suppressor NF1 contributes to the pathobiology of type 1 neurofibromatosis, but a related role has not been established in malignant peripheral nerve sheath tumors (MPNST) where NF1 mutations also occur. Patients with NF1-associated MPNST appear to have worse outcomes than patients with sporadic MPNST, but the mechanism underlying this correlation is not understood. To define the impact of stromal genetics on the biology of this malignancy, we developed unique mouse models that reflect the genetics of patient-associated MPNST. Read More

    Does spinal deformity correction of non-dystrophic scoliosis in neurofibromatosis type-1 with one-stage posterior pedicle screw technique produce outcomes similar to adolescent idiopathic scoliosis?
    Spine J 2017 Jun 20. Epub 2017 Jun 20.
    Department of orthopedics surgery, West China Hospital, Sichuan University, China.
    Background Context: Efficacy of one-stage posterior pedicle screw instrument used in the treatment of non-dystrophic scoliosis in neurofibromatosis type-1(NF-1) is unknown. And there is no study that has directly compared the results of spinal deformity correction between non-dystrophic scoliosis in NF-1 and adolescent idiopathic scoliosis (AIS).

    Purpose: To study the efficacy of one-stage posterior pedicle screw instrument used in the treatment of non-dystrophic scoliosis in NF-1 and compare non-dystrophic scoliosis in NF-1 with matched AIS to illustrate the differences. 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

    A review of craniofacial and dental findings of the RASopathies.
    Orthod Craniofac Res 2017 Jun;20 Suppl 1:32-38
    Department of Orofacial Sciences and Program in Craniofacial Biology, University of California, San Francisco, San Francisco, CA, USA.
    Objectives: The RASopathies are a group of syndromes that have in common germline mutations in genes that encode components of the Ras/mitogen-activated protein kinase (MAPK) pathway and have been a focus of study to understand the role of this pathway in development and disease. These syndromes include Noonan syndrome (NS), Noonan syndrome with multiple lentigines (NSML or LEOPARD syndrome), neurofibromatosis type 1 (NF1), Costello syndrome (CS), cardio-facio-cutaneous (CFC) syndrome, neurofibromatosis type 1-like syndrome (NFLS or Legius syndrome) and capillary malformation-arteriovenous malformation syndrome (CM-AVM). These disorders affect multiple systems, including the craniofacial complex. Read More

    Successful surgical management of bilateral epiretinal membrane in a child with only café-au-lait spots.
    Indian J Ophthalmol 2017 Jun;65(6):531-533
    Department of Pathology, Christian Medical College and Hospital, Vellore, Tamil Nadu, South India.
    A 6-year-old boy diagnosed as anisometropic amblyopia, with only café-au-lait spots and a family history of neurofibromatosis, presented with decrease in vision in the both eyes. Dilated fundus examination showed epiretinal membrane in both eyes over the macula. He underwent successful surgical management of the epiretinal membrane. Read More

    Primary intraventricular meningiomas in children-experience of two cases with review of literature.
    Childs Nerv Syst 2017 Jun 22. Epub 2017 Jun 22.
    Bombay Hospital Institute Of Medical Sciences (BHIMS), Room No. 126B, 1st Floor, MRC Building,12, New Marine Lines, Mumbai, 400020, India.
    Meningiomas are rare in the pediatric age group, more so in the intraventricular location. They arise in the lateral ventricles from the arachnoid cells contained within the choroid plexus, in the third ventricle from the velum interpositum and in the fourth ventricle from the choroids. These tumors are usually large and have an aggressive behaviour. Read More

    CNS Tumors in Neurofibromatosis.
    J Clin Oncol 2017 Jun 22:JCO2016717199. Epub 2017 Jun 22.
    All authors: Washington University School of Medicine, St. Louis, MO.
    Neurofibromatosis (NF) encompasses a group of distinct genetic disorders in which affected children and adults are prone to the development of benign and malignant tumors of the nervous system. The purpose of this review is to discuss the spectrum of CNS tumors arising in individuals with NF type 1 (NF1) and NF type 2 (NF2), their pathogenic etiologies, and the rational treatment options for people with these neoplasms. This article is a review of preclinical and clinical data focused on the treatment of the most common CNS tumors encountered in children and adults with NF1 and NF2. Read More

    Retinal Findings on OCT in Systemic Conditions.
    Semin Ophthalmol 2017 Jun 22:1-22. Epub 2017 Jun 22.
    a Srimati Kanuri Santhamma Centre for Vitreo Retinal Diseases, KAR Campus , L. V. Prasad Eye Institute , Hyderabad , Telangana , India.
    Purpose: Imaging technology has advanced by leaps and bounds in the recent past and has resulted in a much greater understanding of ocular diseases. The aim of this review article is to summarize optical coherence tomography (OCT) findings of various systemic conditions.

    Method: A systematic literature search of the Medline/PubMed database was performed. Read More

    The NF1 somatic mutational landscape in sporadic human cancers.
    Hum Genomics 2017 Jun 21;11(1):13. Epub 2017 Jun 21.
    Division of Cancer and Genetics, Institute of Medical Genetics, Cardiff University, Heath Park, Cardiff, CF14 4XN, UK.
    Background: Neurofibromatosis type 1 (NF1: Online Mendelian Inheritance in Man (OMIM) #162200) is an autosomal dominantly inherited tumour predisposition syndrome. Heritable constitutional mutations in the NF1 gene result in dysregulation of the RAS/MAPK pathway and are causative of NF1. The major known function of the NF1 gene product neurofibromin is to downregulate RAS. Read More

    An Exceptional Case of Intraparotid Plexiform Neurofibroma Originating from Autonomic Fibers of the Auriculotemporal Nerve.
    Case Rep Med 2017 29;2017:8327215. Epub 2017 May 29.
    1st Department of Otorhinolaryngology, Head and Neck Surgery, Aristotle University of Thessaloniki, AHEPA Hospital, 1 Stilponos Kyriakidi St., 54636 Thessaloniki, Greece.
    Plexiform neurofibromas are benign tumors that tend to occur in patients suffering from neurofibromatosis type 1 (NF-1). This report addresses a rare case where the tumor affected the parotid gland, deriving almost exclusively from the peripheral portion of the facial nerve. A 6-year-old male was referred to us complaining about a gradually enlarging swelling over the right parotid area. Read More

    Epilepsy in neurofibromatosis type 1.
    Epilepsy Behav 2017 Jun 17;73:137-141. Epub 2017 Jun 17.
    Duke University Medical Center, Division of Pediatric Neurology, Durham, NC 27710, United States. Electronic address:
    Objectives: To describe the characteristics of epilepsy in patients with Neurofibromatosis type 1 (NF1).

    Methods: Analysis of a cohort of consecutive NF1 patients seen in our NF1 clinic during a three-year period.

    Results: Of the 184 NF1 patients seen during that period, 26 had epilepsy and three had febrile seizures. Read More

    Growth hormone excess in children with neurofibromatosis type-1 and optic glioma.
    Am J Med Genet A 2017 Jun 20. Epub 2017 Jun 20.
    Rare Diseases and Medical Genetics Unit, Bambino Gesù Children Hospital, IRCCS, Rome, Italy.
    In children with neurofibromatosis type 1 (NF1) and optic pathways glioma (OPG), growth hormone (GH) excess has been rarely reported and mainly associated to central precocious puberty. The aim of our study is to evaluate the prevalence of GH excess, the association with central precocious puberty, the relation with tumor site and the evolution over time in a large cohort of children with NF1 and OPG. Sixty-four NF1 children with OPG were evaluated. Read More

    Pharmacological inhibition of Anaplastic Lymphoma Kinase rescues spatial memory impairments in Neurofibromatosis 1 mutant mice.
    Behav Brain Res 2017 Jun 16. Epub 2017 Jun 16.
    Department of Behavioral Neuroscience, Oregon Health & Science University, Portland, OR 97239, USA; Departments of Neurology, and Radiation Medicine, Division of Neuroscience, ONPRC, Oregon Health & Science University, Portland, OR 97239, USA. Electronic address:
    Heterozygous Neurofibromatosis 1 (NF1) loss of function mutations are found in 90% of patients with neurofibromatosis, a syndrome associated with disabling cognitive impairment. Drosophila studies have demonstrated a genetic interaction between Anaplastic Lymphoma Kinase (Alk) and NF1 in cognitive performance. In addition, pharmacologic inhibition of Alk improves cognitive performance in heterozygous NF1 mutant flies. Read More

    Development of emotional and behavioral problems in neurofibromatosis type 1 during young childhood.
    Am J Med Genet A 2017 Jun 19. Epub 2017 Jun 19.
    Department of Child and Adolescent Psychiatry/Psychology, Erasmus MC-Sophia Children's Hospital and ENCORE Expertise Centre for Neurodevelopmental Disorders, Rotterdam, The Netherlands.
    This retrospective longitudinal study in young children with neurofibromatosis type 1 (NF1) aimed to identify if, and how early problems in behavior, intelligence, and language development are associated with later behavioral problems. At the first assessment at preschool age, we evaluated language skills, intelligence, and emotional and behavioral problems as reported by parents. The second assessment at school-age we evaluated intelligence, and emotional and behavioral problems as reported by parents and teachers. Read More

    Subarachnoid hemorrhage due to distal superior cerebellar artery dissection in Neurofibromatosis Type 1.
    World Neurosurg 2017 Jun 15. Epub 2017 Jun 15.
    Department of Neurosurgery, Kumamoto University Graduate School of Medical Science, Kumamoto, 1-1-1 Honjo, Chuo-ku, Kumamoto, 860-8556, Japan.
    Background: Neurofibromatosis type 1 (NF1) is a rare disease with an incidence of one in every 3000 births. Numerous studies have focused on the main function of NF1 as a tumor suppressor, while few have examined the cerebrovascular abnormalities observed in patients with NF1. It is worth noting that intracranial aneurysms are uncommon in this condition. Read More

    Schwannoma and neurofibroma of the posterior tibial nerve presenting as tarsal tunnel syndrome: review of the literature with two case reports.
    Foot (Edinb) 2017 Mar 30;32:22-26. Epub 2017 Mar 30.
    Charlotte Maxeke Academic Hospital, and Orthopaedic Department, University of the Witwatersrand, Johannesburg, South Africa. Electronic address:
    Background: Hallux valgus is the lateral deviation of the great toe at the MTPJ that has many attributing aetiologies. This study will aim to identify whether hallux valgus progresses over time in the oriental Chinese population in Hong Kong.

    Methods: Patients with acquired symptomatic hallux valgus who presented to clinic between 2008 and 2013 were included. Read More

    Plexiform neurofibroma causing an ossifying subperiosteal haematoma: a rare case in the tibia of an 11-year-old girl.
    Skeletal Radiol 2017 Jun 16. Epub 2017 Jun 16.
    Department of Orthopaedic Surgery, Sir Charles Gairdner Hospital, Nedlands, WA, 6009, Australia.
    Ossifying subperiosteal haematoma is an exceedingly rare manifestation of Neurofibromatosis type 1 (NF-1). We report an interesting case of plexiform neurofibroma causing a rapidly growing tibial mass as a result of subperiosteal haemorrhage, in an 11-year-old girl with previously undiagnosed NF-1. This reflects a precursor of the more mature periosteal ossification seen in cases traditionally termed "subperiosteal cysts". Read More

    Salvage of the Foot for Recurrent Malignant Peripheral Nerve Sheath Tumor.
    J Foot Ankle Surg 2017 Jun 13. Epub 2017 Jun 13.
    Professor of Orthopaedics and Surgeon, Third Orthopaedic Department, University of Athens, KAT Hospital, Marousi, Greece.
    Malignant peripheral nerve sheath tumors are rare soft tissue tumors accounting for 3% to 10% of all soft tissue tumors. They are strongly related to neurofibromatosis type 1, an autosomal dominant disease, and are characterized by aggressive biologic behavior, high local recurrence rates, and frequent metastases. Although the major nerves of the lower extremities are a common location of these tumors, scarce cases have been reported of malignant peripheral nerve sheath tumors involving the interdigital nerves of the foot. Read More

    Intrathoracic meningocele associated with neurofibromatosis Type 1 and a novel technique for surgical repair: case report.
    J Neurosurg Spine 2017 Jun 16:1-4. Epub 2017 Jun 16.
    Department of Neurosurgery, University of Minnesota, Minneapolis, Minnesota.
    Neurofibromatosis Type 1 (NF1) is a neurocutaneous disorder that can have associated spinal abnormalities related to both bone and dural dysplasia. Thoracic meningoceles are one spine anomaly associated with NF1, although they are a fairly uncommon pathology. Surgical techniques to treat these meningoceles, usually undertaken only when the patient is symptomatic, are targeted at decreasing the size of the protrusion and improving lung capacity. Read More

    Moyamoya Syndrome in a Child with Neurofibromatosis Type 1: Magnetic Resonance Imaging as a Tool for Clinical Decision Making.
    Cureus 2017 May 9;9(5):e1233. Epub 2017 May 9.
    Radiology, Nemours Chil.
    Moyamoya syndrome is a rare cerebrovasculopathy of unknown etiology which is associated with multiple risk factors. Moyamoya was first discovered in Japan and is reported to have an increased prevalence in the Japanese population. The term "Moyamoya" translates into "puff of smoke" and is named after the finding of the collateral cerebral vasculature that develops secondary to occlusion of an internal carotid artery at the entrance into the circle of Willis. Read More

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

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

    Immune profiling of NF1-associated tumors reveals histologic subtype distinctions and heterogeneity: Implications for immunotherapy.
    Oncotarget 2017 May 30. Epub 2017 May 30.
    Division of Hematology, Oncology, Blood and Marrow Transplant, Department of Pediatrics, Nationwide Children's Hospital, Columbus, Ohio, USA.
    Successful treatment of neurofibromatosis type 1 (NF1)-associated tumors poses a significant clinical challenge. While the primary underlying genetic defect driving RAS signaling is well described, recent evidence suggests immune dysfunction contributes to tumor pathogenesis and malignant transformation. As immunologic characterizations, prognostic and predictive of immunotherapeutic clinical response in other cancers, are not fully described for benign and malignant NF1-related tumors, we sought to define their immunologic profiles. Read More

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

    Characterization of the Phenotype Associated with Microduplication Reciprocal to NF1 Microdeletion Syndrome.
    Cytogenet Genome Res 2017 Jun 13. Epub 2017 Jun 13.
    Laboratory of Cytogenetics, Giannina Gaslini Institute, Genoa, Italy.
    17q11.2 microduplication syndrome is a recently described relatively rare condition associated with a nonspecific phenotype. Intellectual disability, developmental delay, and dysmorphisms are the only clinical features common to a majority of cases. Read More

    Computerized cognitive training for children with neurofibromatosis type 1: A pilot resting-state fMRI study.
    Psychiatry Res 2017 Jun 6;266:53-58. Epub 2017 Jun 6.
    Department of Pediatrics and Neurology, George Washington University, School of Medicine, Washington, DC, USA; Children's National Health System, Washington, DC, USA. Electronic address:
    In this pilot study, we examined training effects of a computerized working memory program on resting state functional magnetic resonance imaging (fMRI) measures in children with neurofibromatosis type 1 (NF1). We contrasted pre- with post-training resting state fMRI and cognitive measures from 16 participants (nine males; 11.1 ± 2. Read More

    Three-dimensional translations following posterior three-column spinal osteotomies for the correction of severe and stiff kyphoscoliosis.
    Spine J 2017 Jun 7. Epub 2017 Jun 7.
    Department of Spinal Surgery, The First Affiliated Hospital of Sun Yat-sen University, NO. 58, Zhongshan Er Road, Guangzhou, Guangdong, China. Electronic address:
    Background Context: Posterior three-column spinal osteotomies were shown to be effective to treat severe and stiff kyphoscoliosis. Translations at the site of osteotomy after deformity correction were commonly seen intraoperatively, which might cause potential neurologic deficits. However, this phenomenon was not thoroughly discussed in the current literature. Read More

    Radiation-induced malignant peripheral nerve sheath tumors: A systematic review.
    World Neurosurg 2017 Jun 8. Epub 2017 Jun 8.
    Laboratory of Molecular Target Therapy for Cancer, Graduate School for Medical Science, Kyoto Prefectural University of Medicine, 465 Kajii-cho, Kawaramachi-Hirokoji, Kamigyo-ku, Kyoto 602-8566, Japan.
    Objective: Radiation-induced malignant peripheral nerve sheath tumors (MPNSTs) are an uncommon late risk of irradiation. We conducted the largest systematic review to date, of individual patient data for patients with these tumors.

    Methods: We conducted a systematic search using the PubMed database, and compiled a systematic literature review. Read More

    Translabyrinthine vestibular schwannoma resection with simultaneous cochlear implantation.
    Cochlear Implants Int 2017 Jun 12:1-7. Epub 2017 Jun 12.
    a Department of Otolaryngology - Head & Neck Surgery , Virginia Commonwealth University School of Medicine , 1200 East Broad Street, West Hospital, 12th Floor, South Wing, Suite 313, PO Box 980146, Richmond , VA 23298-0146 , USA.
    Objectives: (1) Report a rare case of translabyrinthine resection of a sporadic vestibular schwannoma (VS) and concurrent cochlear implantation (CI). (2) Discuss pre-, intra-, and post-operative considerations in this unique patient population. (3) Describe surgical and audiologic outcomes reported in this population. Read More

    Atypical neurofibromatosis type 1 with unilateral limb hypertrophy mimicking overgrowth syndrome.
    Clin Exp Dermatol 2017 Jun 8. Epub 2017 Jun 8.
    Department of Medical Genetics, University of Szeged, Szeged, Hungary.
    Neurofibromatosis type 1 (NF1; OMIM 162200), a dominantly inherited multitumor syndrome, results from mutations in the Neurofibromin 1 (NF1) gene. We present the case of a Hungarian woman with the clinical phenotype of NF1 over her whole body and the clinical features of unilateral overgrowth involving her entire left leg. This unusual phenotype suggested either the atypical form of NF1 or the coexistence of NF1 and overgrowth syndrome. Read More

    Hybrid peripheral nerve sheath tumors: A review.
    Cesk Patol 2017 ;53(2):81-88
    Hybrid peripheral nerve sheath tumors (HPNST) are relatively recently described tumors. With ongoing research, a considerable amount of important findings have been made, much of which has substantial clinical implications. However, a comprehensive review of the whole topic has not been published in the literature so far. 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

    Clinical presentation and prognostic indicators in 100 adults and children with neurofibromatosis 1 associated non-optic pathway brain gliomas.
    J Neurooncol 2017 Jun 7. Epub 2017 Jun 7.
    National Neurofibromatosis Service, Guy's and St. Thomas' NHS Foundation Trust, London, UK.
    Type 1 Neurofibromatosis (NF1) is a common autosomal dominant condition, with a major impact on the nervous system, eye, bone, and skin, and a predisposition to malignancy. At present it is not possible to predict clinically or on imaging, whether a brain tumour will remain indolent or undergo high-grade change. There are no consensus guidelines on the follow-up of non-optic pathway glioma (non-OPG) tumours in NF1. Read More

    Malignant Peripheral Nerve Sheath Tumors State of the Science: Leveraging Clinical and Biological Insights into Effective Therapies.
    Sarcoma 2017 16;2017:7429697. Epub 2017 May 16.
    National Cancer Institute, Pediatric Oncology Branch, 10 Center Drive, Room 1-3742, Building 10, Bethesda, MD 20892, USA.
    Malignant peripheral nerve sheath tumor (MPNST) is the leading cause of mortality in patients with neurofibromatosis type 1. In 2002, an MPNST consensus statement reviewed the current knowledge and provided guidance for the diagnosis and management of MPNST. Although the improvement in clinical outcome has not changed, substantial progress has been made in understanding the natural history and biology of MPNST through imaging and genomic advances since 2002. Read More

    [Overlap syndrome. LEOPARD and neurofibromatosis. A case report].
    Rev Med Inst Mex Seguro Soc 2017 Jul-Aug;55(4):540-543
    Servicio de Terapia Intensiva, Hospital General de Zona 30 "Iztacalco", Instituto Mexicano del Seguro Social, Ciudad de México, México.
    We expose a clinical case of a 43-year-old patient who was attended at the Dermatology service in a general hospital of the Instituto Mexicano del Seguro Social, with a disseminated pattern of lentigines, psychomotor retardation and electrocardiographic abnormalities. Afterwards, we made an analysis of the literature. Read More

    Characterisation of malignant peripheral nerve sheath tumours in neurofibromatosis-1 using heterogeneity analysis of (18)F-FDG PET.
    Eur J Nucl Med Mol Imaging 2017 Jun 7. Epub 2017 Jun 7.
    Cancer Imaging Department, Division of Imaging Sciences and Biomedical Engineering, King's College London, London, SE1 7EH, UK.
    Purpose: Measurement of heterogeneity in (18)F-fluorodeoxyglucose ((18)F-FDG) positron emission tomography (PET) images is reported to improve tumour phenotyping and response assessment in a number of cancers. We aimed to determine whether measurements of (18)F-FDG heterogeneity could improve differentiation of benign symptomatic neurofibromas from malignant peripheral nerve sheath tumours (MPNSTs).

    Methods: (18)F-FDG PET data from a cohort of 54 patients (24 female, 30 male, mean age 35. Read More

    Neuropathies in the setting of Neurofibromatosis tumor syndromes: Complexities and opportunities.
    Exp Neurol 2017 Jun 3. Epub 2017 Jun 3.
    Department of Neurology, University Medical Center Hamburg-Eppendorf, University of Hamburg, 20246 Hamburg, Germany. Electronic address:
    The term 'Neurofibromatosis' (NF) comprises a group of rare diseases with related clinical presentations but distinct genetic conditions. All currently known types - NF1, NF2 and Schwannomatosis - predispose afflicted individuals to the development of glial cell-derived (gliogenic) tumors. Furthermore, the occurrence of neuropathic symptoms, which add to the overall neurologic disability of patients, has been described in all disease entities. Read More

    Validation of an automated tractography method for the optic radiations as a biomarker of visual acuity in neurofibromatosis-associated optic pathway glioma.
    Exp Neurol 2017 Jun 3. Epub 2017 Jun 3.
    Department of Radiology, The Children's Hospital of Philadelphia, Philadelphia, PA, United States.
    Introduction: Fractional anisotropy (FA) of the optic radiations has been associated with vision deficit in multiple intrinsic brain pathologies including NF1 associated optic pathway glioma, but hand-drawn regions of interest used in previous tractography methods limit consistency of this potential biomarker. We created an automated method to identify white matter tracts in the optic radiations and compared this method to previously reported hand-drawn tractography.

    Method: Automated tractography of the optic radiation using probabilistic streamline fiber tracking between the lateral geniculate nucleus of the thalamus and the occipital cortex was compared to the hand-drawn method between regions of interest posterior to Meyer's loop and anterior to tract branching near the calcarine cortex. Read More

    Attention and Executive Disorders in Neurofibromatosis 1: Comparison Between NF1 With ADHD Symptomatology (NF1 + ADHD) and ADHD Per Se.
    J Atten Disord 2017 Jun 1:1087054717707579. Epub 2017 Jun 1.
    9 Laboratoire d'Étude des Mécanismes Cognitifs, EA 3082, Université de Lyon, Université Lumière-Lyon 2, Lyon, France.
    Objective: To compare children with Neurofibromatosis type 1 and associated ADHD symptomatology (NF1 + ADHD) with children having received a diagnosis of ADHD without NF1. The idea was that performance differences in tasks of attention between these two groups would be attributable not to the ADHD symptomatology, but to NF1 alone.

    Method: One group of children with NF1 + ADHD ( N = 32), one group of children with ADHD ( N = 31), and one group of healthy controls ( N = 40) participated in a set of computerized tasks assessing intensive, selective, and executive aspects of attention. Read More

    Genetic status determines (18) F-FDG uptake in pheochromocytoma/paraganglioma.
    J Med Imaging Radiat Oncol 2017 Jun 5. Epub 2017 Jun 5.
    Department of Endocrinology, Seth G S Medical College and KEM Hospital, Mumbai, India.
    Introduction: Although few studies have demonstrated utility of (18) F- fluoro-2-deoxy-d-glucose positron emission tomography/computerised tomography ((18) F-FDG PET/CT) in benign pheochromocytoma/paragangliomas (PCC/PGLs), there limited data on factors predicting the FDG uptake in PCC/PGL.

    Methods: The study was conducted at a tertiary health care centre. In addition to the routine investigations, all patients (n = 96) with PCC/PGL were evaluated with (18) F-FDGPET/CT and majority (n = 78) underwent (131) I-metaiodobenzyl guanidine ((131) I-MIBG) scintigraphy. Read More

    Isolated Neurofibroma of the Orbit: Case Report and Literature Review.
    Ophthal Plast Reconstr Surg 2017 Jun 2. Epub 2017 Jun 2.
    *Department of Ophthalmology, Virginia Commonwealth University, †Virginia Commonwealth University School of Medicine, and ‡Virginia Eye Institute, Richmond, Virginia, U.S.A.
    Purpose: To summarize the clinical, radiographic, and intraoperative characteristics of isolated neurofibromas of the orbit (INFO) in the literature and report a case of INFO.

    Methods: Case report and a systematic review of the literature.

    Results: A total of 45 patients were identified from 18 previous studies. Read More

    Does pamidronate enhance the osteogenesis in mesenchymal stem cells derived from fibrous hamartoma in congenital pseudarthrosis of the tibia?
    Bone Rep 2016 Dec 14;5:292-298. Epub 2016 Oct 14.
    Department of Biostatistics, Christian Medical College, Vellore 632004, Tamil Nadu, India.
    Neurofibromatosis type 1 (NF1) is a commonly occurring genetic disorder in children. Mutation in the NF1 gene has its implication in poor osteoblastic capabilities. We hypothesised that pamidronate will enhance the osteoblastic potential of the mesenchymal stem cells (MSCs) derived from lipofibromatosis tissue of children with congenital pseudarthrosis tibia (CPT) associated with NF1. Read More

    Solitary neurofibroma of eyelid masquerading as chalazion.
    Int Med Case Rep J 2017 23;10:177-179. Epub 2017 May 23.
    Department of Ophthalmology, Buddhist Tzu Chi General Hospital, Hualien, Taiwan.
    Neurofibroma, a benign peripheral nerve sheath tumor, usually appears together with café-au-lait spots, iris nodules, and other tumors within the scope of neurofibromatosis von Recklinghausen type 1 tumors. A solitary neurofibroma of the eyelid is relatively rare. In this case report, we present a 39-year-old woman who had a lesion on the eyelid crease, previously treated as a chalazion. Read More

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

    Natural history of optic pathway gliomas in a cohort of unselected patients affected by Neurofibromatosis 1.
    J Neurooncol 2017 Jun 2. Epub 2017 Jun 2.
    Clinical Genetics Unit, Department of Woman and Child Health, University of Padova, Via Giustiniani 3, 35128, Padova, Italy.
    Optic pathway glioma (OPG) represents the most common central nervous system tumor in children with Neurofibromatosis type-1 (NF1). Although overall survival is usually good, no clear prognostic factors have been identified so far. We assessed the natural history of OPG in a cohort of unselected patients affected by NF1. Read More

    Neurofibromatosis type 1 is not associated with subarachnoid haemorrhage.
    PLoS One 2017 2;12(6):e0178711. Epub 2017 Jun 2.
    Neurosurgery, NeuroCenter, Kuopio University Hospital, Kuopio, Finland.
    Background: The prevalence of intracranial aneurysms (IAs) has been proposed to be elevated in the patients with neurofibromatosis type 1 (NF1). Our aims were to determine the prevalence of NF1 in a large Finnish population based cohort of IA patients and, on the other hand, the occurrences of subarachnoid haemorrhage and unruptured intracranial aneurysms in a nationwide population-based cohort of NF1 patients and its matched ten-fold control cohort.

    Methods: The Kuopio IA Database (www. Read More

    Anaplastic Pleomorphic Xanthoastrocytoma in a Case of Neurofibromatosis Type 1: A Case Report.
    J Clin Diagn Res 2017 Apr 1;11(4):ED23-ED24. Epub 2017 Apr 1.
    Professor, Department of Pathology, Pondicherry Institute of Medical Sciences, Puducherry, India.
    Pleomorphic Xanthoastrocytoma (PXA) is a rare brain tumour comprising only <1% of primary brain tumours which is seen in children and young adults. Only 9-20% of the PXA shows anaplastic features and this has a bad prognosis. PXA is a WHO grade II tumour while anaplastic PXA is a WHO grade III tumour. Read More

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

    Pedicle screw versus hybrid posterior instrumentation for dystrophic neurofibromatosis scoliosis.
    Medicine (Baltimore) 2017 Jun;96(22):e6977
    aDepartment of Orthopedic Surgery, Shin Kong Wu Ho-Su Memorial Hospital, Taipei bDepartment of Orthopedic Surgery, Chang Gung Memorial Hospital, Chang Gung University College of Medicine cBone and Joint Research Center, Chang Gung Memorial Hospital, Taoyuan, Taiwan.
    Surgical management of severe rigid dystrophic neurofibromatosis (NF) scoliosis is technically demanding and produces varying results. In the current study, we reviewed 9 patients who were treated with combined anterior and posterior fusion using different types of instrumentation (i.e. Read More

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