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    Increased Tissue Stiffness in Tumors from Mice with Neurofibromatosis-1 Optic Glioma.
    Biophys J 2017 Apr;112(8):1535-1538
    Department of Biomedical Engineering, Washington University, St. Louis, Missouri; Department of Mechanical Engineering and Materials Science, Washington University, St. Louis, Missouri. Electronic address:
    Children with neurofibromatosis type 1 (NF1) cancer predisposition syndrome are prone to the development of low-grade brain tumors (gliomas) within the optic pathway (optic gliomas). One of the key obstacles to developing successful therapeutic strategies for these tumors is the striking lack of information about the mechanical properties that characterize these tumors relative to non-neoplastic optic nerve tissue. To study the physical changes that may occur when an optic nerve glioma is present, we employed atomic force microscopy to measure the stiffness of healthy versus tumor-bearing optic nerve tissue. Read More

    CyberKnife for Treatment of Vestibular Schwannoma: A Meta-analysis.
    Otolaryngol Head Neck Surg 2017 Apr 1:194599817695805. Epub 2017 Apr 1.
    1 Division of Neurotology and Skull Base Surgery, Department of Otolaryngology-Head and Neck Surgery, University of California, Irvine, California, USA.
    Objectives (1) Perform a meta-analysis of the available data on the outcomes of CyberKnife radiosurgery for treatment of vestibular schwannomas (VSs) in the published English-language literature and (2) evaluate the collective outcomes of CyberKnife treatment with respect to tumor control and hearing preservation. Data Sources A thorough literature search of published English-language articles was performed in the PubMed, Ovid, and Cochrane databases. Review Methods A database search was conducted with the keywords "CyberKnife" and "vestibular schwannoma" or "acoustic neuroma. Read More

    Quantitative Ultrasound and Tibial Dysplasia in Neurofibromatosis Type 1.
    J Clin Densitom 2017 Apr 21. Epub 2017 Apr 21.
    Department of Pediatrics, University of Utah, Salt Lake City, UT, USA.
    Neurofibromatosis type 1 (NF1) is a common autosomal dominant disorder associated with unilateral anterolateral bowing with subsequent fracture and nonunion. In infancy, physiologic bowing of the lower leg can be confused with pathologic tibial dysplasia in NF1. Little is known about the bone physiology of the tibiae prior to fracture or predictors of fracture. Read More

    The path forward: 2015 International Children's Tumor Foundation conference on neurofibromatosis type 1, type 2, and schwannomatosis.
    Am J Med Genet A 2017 Apr 24. Epub 2017 Apr 24.
    Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts.
    The Annual Children's Tumor Foundation International Neurofibromatosis Meeting is the premier venue for connecting discovery, translational and clinical scientists who are focused on neurofibromatosis types 1 and 2 (NF1 and NF2) and schwannomatosis (SWN). The meeting also features rare tumors such as glioma, meningioma, sarcoma, and neuroblastoma that occur both within these syndromes and spontaneously; associated with somatic mutations in NF1, NF2, and SWN. The meeting addresses both state of the field for current clinical care as well as emerging preclinical models fueling discovery of new therapeutic targets and discovery science initiatives investigating mechanisms of tumorigenesis. Read More

    Utilization of Whole-Exome Next-Generation Sequencing Variant Read Frequency for Detection of Lesion-Specific, Somatic Loss of Heterozygosity in a Neurofibromatosis Type 1 Cohort with Tibial Pseudarthrosis.
    J Mol Diagn 2017 May;19(3):468-474
    ARUP Institute for Clinical and Experimental Pathology, Salt Lake City, Utah; Department of Pathology, School of Medicine, University of Utah, Salt Lake City, Utah.
    A subset of neurofibromatosis type 1 patients develop tibial dysplasia, which can lead to pseudarthrosis. The tissue from the tibial pseudarthrosis region commonly has a somatic second hit in NF1: single-nucleotide variants, small deletions, or loss of heterozygosity (LOH). We used exome next-generation sequencing (NGS) variant frequency data (allelic imbalance analysis) to detect somatic LOH in pseudarthrosis tissue from three individuals with clinically and diagnostically confirmed neurofibromatosis type 1, and verified the results with microarray. Read More

    Genotype-phenotype correlation in paediatric pheochromocytoma and paraganglioma: a single centre experience from India.
    J Pediatr Endocrinol Metab 2017 Apr 22. Epub 2017 Apr 22.
    Department of Endocrinology, Seth G S Medical College and KEM Hospital, Mumbai.
    Background: Data on genotype-phenotype correlation in children is limited. Hence, we studied the prevalence of germline mutations and genotype-phenotype correlation in children with pheochromocytoma (PCC)/paraganglioma (PGL) and compared it with adult PCC/PGL cohort.

    Methods: A total of 121 consecutive, unrelated, index PCC/PGL patients underwent genetic testing for five PCC/PGL susceptibility genes (RET, VHL, SDHB, SDHD and SDHC) and were evaluated for clinical diagnosis of neurofibromatosis type1 (NF1). Read More

    Cognitive profile and disorders affecting higher brain functions in paediatric patients with neurofibromatosis type 1.
    Neurologia 2017 Apr 18. Epub 2017 Apr 18.
    Servicio de Neurología Infantil, Hospital Italiano de Buenos Aires, Ciudad de Buenos Aires, Argentina.
    Introduction: Neurofibromatosis type 1 (NF1) is a common neurocutaneous syndrome often associated with specific cognitive deficits that are rarely monitored during follow-up of these patients.

    Objective: The purpose of our study is two-fold. First, we aimed to describe the cognitive profile of patients with NF1 and detect disorders in higher brain functions associated with the disease. Read More

    miRNA Regulation in Gliomas: Usual Suspects in Glial Tumorigenesis and Evolving Clinical Applications.
    J Neuropathol Exp Neurol 2017 Apr;76(4):246-254
    From the Division of Neuropathology (HA, FJR); Division of Cardiovascular Pathology (MKH), and Sidney Kimmel Comprehensive Cancer Center (MKH, FJR); and Johns Hopkins University School of Medicine, Baltimore, Maryland.
    In recent years, an increasing role for noncoding small RNAs (miRNA) has been uncovered in carcinogenesis. These oligonucleotides can promote degradation and/or inhibit translation of key mRNAs. Recent studies have also highlighted a possible role for miRNAs in adult and pediatric brain tumors, including high- and low-grade gliomas, medulloblastoma, ependymoma, and neoplasms associated with neurofibromatosis type 1. Read More

    Aneurysms in neurofibromatosis type 2: Evidence for vasculopathy?
    Am J Med Genet A 2017 Apr 21. Epub 2017 Apr 21.
    Department of Neurology, Guy's and St. Thomas' NHS Trust, London, UK.
    There have been anecdotal reports of vasculopathy associated with Neurofibromatosis Type 2 (NF2). Given the increasing use of bevacizumab, a vascular endothelial growth factor inhibitor which results in an increased risk of bleeding, it is important to ascertain if there is a predisposition to vascular abnormalities in NF2. In our unit NF2 patients undergo annual MRI brain and internal auditory meatus imaging. Read More

    The effect of post-injection (18)F-FDG PET scanning time on texture analysis of peripheral nerve sheath tumours in neurofibromatosis-1.
    EJNMMI Res 2017 Dec 20;7(1):35. Epub 2017 Apr 20.
    Department of Cancer Imaging, Division of Imaging Sciences and Biomedical Engineering, King's College London, London, UK.
    Background: Texture features are being increasingly evaluated in (18)F-fluorodeoxyglucose positron emission tomography ((18)F-FDG PET) as adjunctive imaging biomarkers in a number of different cancers. Whilst studies have reported repeatability between scans, there have been no studies that have specifically investigated the effect that the time of acquisition post-injection of (18)F-FDG has on texture features. The aim of this study was to investigate if texture features change between scans performed at different time points post-injection. Read More

    Ponatinib promotes a G1 cell-cycle arrest of merlin/NF2-deficient human schwann cells.
    Oncotarget 2017 Mar 6. Epub 2017 Mar 6.
    Burnett School of Biomedical Sciences, College of Medicine, University of Central Florida, Lake Nona-Orlando, FL 32827, USA.
    Neurofibromatosis type 2 (NF2) is a genetic syndrome that predisposes individuals to multiple benign tumors of the central and peripheral nervous systems, including vestibular schwannomas. Currently, there are no FDA approved drug therapies for NF2. Loss of function of merlin encoded by the NF2 tumor suppressor gene leads to activation of multiple mitogenic signaling cascades, including platelet-derived growth factor receptor (PDGFR) and SRC in Schwann cells. Read More

    What's new with common genetic skin disorders?
    Minerva Pediatr 2017 Apr 20. Epub 2017 Apr 20.
    Department of Dermatology, Rochester, MN, USA -
    Familiar genetic disorders such as neurofibromatosis type I (NF1), tuberous sclerosis complex (TSC), oculocutaneous albinism (OCA), basal cell nevus syndrome (BCNS), incontinentia pigmenti, ichthyosis, and epidermolysis bullosa (EB) have prominent, cutaneous manifestations. This review describes recent advances in knowledge concerning the pathophysiology, diagnosis, and treatment of these skin features. Specifically, clinical diagnostic criteria for incontinentia pigmenti, ichthyosis, and tuberous sclerosis have been updated. Read More

    Targeted disruption of NF1 in osteocyte increases FGF23 and osteoid with osteomalacia-like bone phenotype.
    J Bone Miner Res 2017 Apr 20. Epub 2017 Apr 20.
    Texas Scottish Rite Hospital for Children, Dallas, TX 75219, USA.
    Neurofibromatosis type 1 (NF1, OMIM 162200), caused by NF1 gene mutations, exhibits multi-system abnormalities including skeletal deformities in humans. Osteocytes play critical roles in controlling bone modeling and remodeling. However, the role of neurofibromin, the protein product of the NF1 gene, in osteocytes is largely unknown. Read More

    Oligodendrocyte Nf1 Controls Aberrant Notch Activation and Regulates Myelin Structure and Behavior.
    Cell Rep 2017 Apr;19(3):545-557
    Division of Experimental Hematology and Cancer Biology, Cincinnati Children's Hospital Medical Center, University of Cincinnati, Cincinnati, OH 45229, USA. Electronic address:
    The RASopathy neurofibromatosis type 1 (NF1) is one of the most common autosomal dominant genetic disorders. In NF1 patients, neurological issues may result from damaged myelin, and mice with a neurofibromin gene (Nf1) mutation show white matter (WM) defects including myelin decompaction. Using mouse genetics, we find that altered Nf1 gene-dose in mature oligodendrocytes results in progressive myelin defects and behavioral abnormalities mediated by aberrant Notch activation. Read More

    Moyamoya syndrome in children with neurofibromatosis type 1: Italian-French experience.
    Am J Med Genet A 2017 Apr 19. Epub 2017 Apr 19.
    Dipartimento della Donna, del Bambino e di Chirurgia Generale e Specialistica, Università degli Studi della Campania "Luigi Vanvitelli,", Naples, Italy.
    Moyamoya syndrome (MMS) is the most common cerebral vasculopathy among children with neurofibromatosis type 1 (NF1). In this study, we clinically, radiologically, and genetically examined a cohort that was not previously described, comprising European children with NF1 and MMS. The NF1 genotyping had been registered. Read More

    Cranial irradiation in childhood mimicking neurofibromatosis type II.
    Am J Med Genet A 2017 Apr 19. Epub 2017 Apr 19.
    The Gilbert Israeli Neurofibromatosis Center, Tel-Aviv Medical Center, Tel-Aviv, Israel.
    Neurofibromatosis type II (NF2) is a genetic disease characterized by bilateral vestibular schwannomas (VS) and other nerve system tumors. However, such tumors may be associated with environmental, rather than a genetic, etiology. Individuals fulfilling the clinical criteria of NF2 who had been treated by head ionized irradiation at a young age were compared for disease characteristics and molecular analysis with non-irradiated sporadic NF2 cases. Read More

    Pediatric Non-vestibular Schwannoma.
    Pediatr Dev Pathol 2017 Jan 1:1093526617703540. Epub 2017 Jan 1.
    1 Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota, USA.
    While the clinicopathologic features of pediatric vestibular schwannomas, often in the context of neurofibromatosis type 2 (NF2), have been well studied, there is less data regarding the characteristics of pediatric non-vestibular schwannomas (NVS). Additionally, the rate of loss of SMARCB1/INI1 expression in this population has not been systematically evaluated. Our institutional archives were searched for cases of NVS arising in patients 18 years or younger. Read More

    A case of splenomegaly in CBL syndrome.
    Eur J Med Genet 2017 Apr 13. Epub 2017 Apr 13.
    British Columbia Children's Hospital Research Institute, Vancouver, Canada; Centre for Molecular Medicine & Therapeutics, University of British Columbia, Vancouver, Canada; Treatable Intellectual Disability Endeavour in British Columbia (TIDE-BC), Vancouver, Canada; Department of Pediatrics, University of British Columbia, Vancouver, Canada; Department of Pediatrics, Emma Children's Hospital, Academic Medical Centre, Amsterdam, The Netherlands. Electronic address:
    Introduction: We present a child with unexplained splenomegaly to highlight this feature as a presenting sign of the RASopathy CBL syndrome and to draw attention to the power and utility of next generation genomic sequencing for providing rapid diagnosis and critical information to guide care in the pediatric clinical setting.

    Clinical Report: A 7-year-old boy presented with unexplained splenomegaly, attention deficit hyperactivity disorder, mild learning difficulties, easy bruising, mild thrombocytopenia, and subtle dysmorphic features. Extensive haematological testing including a bone marrow biopsy showed mild megaloblastoid erythropoiesis and borderline fibrosis. Read More

    Abdominal schwannoma in a case of neurofibromatosis type 2: A report of a rare combination.
    Asian J Neurosurg 2017 Jan-Mar;12(1):89-91
    Department of Neurosurgery, Dhaka Medical College Hospital, Dhaka, Bangladesh.
    Neurofibromatosis-2 (NF2) is an autosomal-dominant disease, which is characterized by vestibular schwannomas (VSs) (acoustic neurinoma) as well as tumours of the peripheral and central nervous system, demonstrating a variety of expression. A 12-year-old girl presented to us with headache and ataxia for four months. We examined and found a lump in the right side of her abdomen. Read More

    T-Cell Lymphoma in a Patient with Neurofibromatosis Type 1 and AIDS.
    Case Rep Oncol 2017 Jan-Apr;10(1):161-168. Epub 2017 Feb 15.
    Universidade Federal do Estado do Rio de Janeiro (UNIRIO), Rio de Janeiro, Brazil.
    Neurofibromatosis type 1 (NF1) and AIDS are risk factors for the development of malignant neoplasms, including hematological malignancies, such as non-Hodgkin lymphoma. NF1 is an autosomal dominant disease that primarily manifests as café-au-lait spots, dermal neurofibromas, axillary and/or inguinal ephelides or freckles, plexiform neurofibromas, Lisch nodules, and bone deformities. In this report, we present a 38-year-old female patient with NF1 from childhood and AIDS who developed peripheral T-cell lymphoma with good response to chemotherapeutic treatment. Read More

    Long-term results of the transmanubrial osteomuscular-sparing approach for pediatric tumors.
    Pediatr Blood Cancer 2017 Apr 14. Epub 2017 Apr 14.
    Department of Pediatric Surgery, Hôpital Necker-Enfants Malades, Paris Descartes University, Paris, France.
    Background: The complete and safe resection of pediatric cervicothoracic tumors, mostly represented by neurogenic tumors, remains a surgical challenge because of the complex anatomy of this region. The transmanubrial osteomuscular-sparing approach (TOSA) is an alternative to isolated or combined cervical and thoracic approaches enabling the control of supra-aortic vessels and nerves through the thoracic inlet.

    Methods: We retrospectively reviewed the tumor characteristics, completeness of resection, morbidity, and long-term outcome of patients with cervicothoracic tumors removed by TOSA between 2000 and 2012 in our institution. Read More

    Sphenoid dysplasia in neurofibromatosis type 1: a new technique for repair.
    Childs Nerv Syst 2017 Apr 13. Epub 2017 Apr 13.
    Department of Neurosurgery, International Neuroscience Institute, Rudolf Pichlmayr Str. 4, 30625, Hannover, Germany.
    Purpose: Sphenoid bone dysplasia in neurofibromatosis type 1 is characterized by progressive exophthalmos and facial disfiguration secondary to herniation of meningeal and cerebral structures. We describe a technique for reconstruction of the sphenoid defect apt at preventing or correcting the ocular globe dislocation.

    Methods: After placement of spinal cerebrospinal fluid drainage to reduce intracranial pressure, the temporal pole is posteriorly dislocated extradurally. Read More

    Thick Corpus Callosum in Children.
    J Clin Neurol 2017 Apr;13(2):170-174
    Department of Pediatric Neurology and Epilepsy Center, Schneider Children's Medical Center of Israel, Petach Tikva, Israel.
    Background And Purpose: A thick corpus callosum (TCC) can be associated with a very grave outcome in fetuses, but its clinical presentation in older children seems to be markedly different.

    Methods: The corpus callosum (CC) was defined as thick based on observations and impressions. We reviewed cases of children who were diagnosed as TCC based on brain magnetic resonance imaging (MRI) studies. Read More

    Arteriovenous Malformation Underlying a Plexiform Neurofibroma: An Unusual Presentation.
    Indian Dermatol Online J 2017 Mar-Apr;8(2):128-130
    Jamejam Imaging Centre, Shahryar, Tehran, Iran.
    Vascular abnormalities associated with neurofibromatosis type 1 are well described in the literature, however, arteriovenous malformation is a very rare finding in neurofibromatosis type 1. We report the case of an 11-year-old girl who presented with a soft mass on the right flank. Provisional diagnosis of plexiform neurofibroma was made on the basis of clinical and histological observations. Read More

    Congenital Pseudoarthrosis of the Distal Radius Treated With Physeal-Sparing Double Barrel Vascularized Free Fibula Transfer: A Case Report.
    Hand (N Y) 2017 Apr 1:1558944717702472. Epub 2017 Apr 1.
    2 University of California, San Francisco, USA.
    Background: Neurofibromatosis type 1 is a hereditary disease that can lead to pseudoarthrosis of various long bones. Rarely, pseudoarthrosis affects the forearm, and to the best of our knowledge, this is the first reported case of pseudarthrosis of the distal radius treated by this unique method.

    Methods: We present a case of a 7-year-old male who underwent multiple operations to treat pseudoarthrosis of the distal radius. Read More

    Desmoplastic melanoma may mimic a cutaneous peripheral nerve sheath tumor. Report of three challenging cases.
    J Cutan Pathol 2017 Apr 12. Epub 2017 Apr 12.
    Pathology Department, University of Valencia, Valencia, Spain.
    Desmoplastic melanoma (DM) and cutaneous malignant peripheral nerve sheath tumors (MPNST) reveal histological and immunohistochemical similarities, including S100 positivity and negative staining for conventional melanocytic markers. We present three cases of cutaneous S100-positive spindle cell tumors in elderly patients, in which first findings led to initial misdiagnoses as cutaneous MPNST and benign peripheral sheath nerve tumor (neurofibroma). The identification of adjacent atypical melanocytic hyperplasia in the overlying skin along with tumor cell proliferation, also in the superficial dermis, the neurotropic component and the absence of any relationship between the tumor and a major nerve, pre-existing neural benign tumor or the existence of stigmata suggestive of neurofibromatosis raised consideration of a desmoplastic melanoma. Read More

    Evidence of neurofibromatosis type 1 in a multi-morbid Inca child mummy: A paleoradiological investigation using computed tomography.
    PLoS One 2017 12;12(4):e0175000. Epub 2017 Apr 12.
    Anthropology, Natural History Museum of Basel, Basel, Switzerland.
    Objective: In this study, an Inca bundle was examined using computed tomography (CT). The primary aim was to determine the preservation status of bony and soft tissues, the sex, the age at the time of death, possible indicators for disease or even the cause of death, as well as the kind of mummification. A secondary aim was to obtain a brief overview of the wrapping in order to gain additional information on the cultural background. Read More

    Sella turcica measurements on lateral cephalograms of patients with neurofibromatosis type 1.
    GMS Interdiscip Plast Reconstr Surg DGPW 2017 23;6:Doc05. Epub 2017 Mar 23.
    Department of Orthodontics, Eppendorf University Hospital, University of Hamburg, Germany.
    The aim of this study was to measure line segments and areas of sella turcica on lateral cephalograms with respect to the clinical diagnosis of facial phenotype of patients with neurofibromatosis type 1 (NF1). Special attention was given to correlate the measured values with certain tumour types that are typical for this disease. Material and methods: Lateral cephalograms of 194 individuals were investigated. Read More

    A high-throughput molecular data resource for cutaneous neurofibromas.
    Sci Data 2017 Apr 11;4:170045. Epub 2017 Apr 11.
    Children's Tumour Foundation, New York, New York 10005, USA.
    Neurofibromatosis type 1 (NF1) is a genetic disorder with a range of clinical manifestations such as widespread growth of benign tumours called neurofibromas, pain, learning disorders, bone deformities, vascular abnormalities and even malignant tumours. With the establishment of the Children's Tumour Foundation biobank, neurofibroma samples can now be collected directly from patients to be analysed by the larger scientific community. This work describes a pilot study to characterize one class of neurofibroma, cutaneous neurofibromas, by molecularly profiling of ~40 cutaneous neurofibromas collected from 11 individual patients. Read More

    Atypical Local Interference Affects Global Processing in Children with Neurofibromatosis Type 1.
    J Int Neuropsychol Soc 2017 Apr 11:1-5. Epub 2017 Apr 11.
    1Murdoch Childrens Research Institute,The Royal Children's Hospital,Australia.
    Objectives: To examine hierarchical visuospatial processing in children with neurofibromatosis type 1 (NF1), a single gene disorder associated with visuospatial impairments, attention deficits, and executive dysfunction.

    Methods: We used a modified Navon paradigm consisting of a large "global" shape composed of smaller "local" shapes that were either congruent (same) or incongruent (different) to the global shape. Participants were instructed to name either the global or local shape within a block. Read More

    Acta Clin Croat 2016 06;55(2):331-3
    Schwannomas are benign encapsulated tumors arising from the sheaths of peripheral nerves. They present as slowly enlarging solitary lumps, which may cause neurological defects. Multiple schwannomas in non-neurofi bromatosis type 2 patients are extremely rare. Read More

    Deficit in phonological processes: a characteristic of the neuropsychological profile of children with NF1.
    Child Neuropsychol 2017 Apr 10:1-17. Epub 2017 Apr 10.
    n "Brain & Imaging" Joint Research Unit (UMR 930), Bretonneau Hospital , Tours Regional University Hospital , Tours , France.
    Learning disabilities are one of the most frequent complications of neurofibromatosis type 1 (NF1) in children. Studies of the effects of the neurocognitive deficit on academic performance are relatively rare, owing to the small size of the populations concerned. However, research is needed to develop effective rehabilitation programs. Read More

    Jugular Foramen Collision Tumor (Schwannoma and Plasma Cell Pseudotumor), a Probable IgG4-Related Disease: A Case Report.
    World Neurosurg 2017 Apr 6. Epub 2017 Apr 6.
    Department of Neurosurgery, Fukushima Medical University, Fukushima city, Japan.
    Lower cranial nerve sheath tumors are relatively rare, and cases of schwannoma collision tumors have rarely been reported, with most of the reported cases describing schwannoma and meningioma collision tumors. We report a very rare case of a cerebellopontine angle collision tumor of the 9(th) cranial nerve schwannoma with an IgG4 plasma cell pseudotumor. IgG4 plasma cell pseudotumors comprise a group of diseases called IgG4-related diseases (IgG4-RDs). Read More

    Human stem cell modeling in neurofibromatosis type 1 (NF1).
    Exp Neurol 2017 Apr 6. Epub 2017 Apr 6.
    Department of Neurology, Washington University School of Medicine, St. Louis, MO 63110, United States. Electronic address:
    The future of precision medicine is heavily reliant on the use of human tissues to identify the key determinants that account for differences between individuals with the same disorder. This need is exemplified by the neurofibromatosis type 1 (NF1) neurogenetic condition. As such, individuals with NF1 are born with a germline mutation in the NF1 gene, but may develop numerous distinct neurological problems, ranging from autism and attention deficit to brain and peripheral nerve sheath tumors. Read More

    Malignant Triton Tumor (Malignant Peripheral Nerve Sheath Tumor With Rhabdomyoblastic Differentiation) Occurring in a Vascularized Free Flap Reconstruction Graft.
    Int J Surg Pathol 2017 Apr 1:1066896917700725. Epub 2017 Apr 1.
    3 Department of Orthopedics Oncology, University of Arkansas for Medical Sciences, Little Rock, AR, USA.
    Malignant peripheral nerve sheath tumor (MPNST) is a rare form of sarcoma arising from Schwann cells or pluripotent cells of the neural crest. Malignant triton tumor (MTT) is a subtype of MPNST with a component of malignant rhabdomyoblasts in addition to malignant Schwann cells. MPNST and MTT are both aggressive malignancies that most commonly arise from large deep neurofibromas in patients with neurofibromatosis type 1 (NF-1). Read More

    Intraosseous Neurofibroma of the Mandible: A Case Report and Review of Literature.
    J Clin Diagn Res 2017 Feb 1;11(2):ZD06-ZD08. Epub 2017 Feb 1.
    Postgraduate Student, Department of Oral Pathology and Microbiology, Sinhgad Dental College & Hospital , Pune, India .
    Neurofibroma (NF) is a benign tumor of the peripheral nervous system. Head and neck NF are generally located in the soft tissue. The tumour is rarely seen intraosseously and most commonly such tumours are seen as solitary lesions, rather than part of neurofibromatosis. Read More

    Familial Schwannomatosis: A Diagnostic Challenge.
    J Clin Diagn Res 2017 Feb 1;11(2):RD01-RD03. Epub 2017 Feb 1.
    Professor and Head of Unit, Department of Orthopaedics, Pad. Dr. D.Y. Patil Hospital , Navi Mumbai, Maharashtra, India .
    Schwannomatosis is a disease characterized by the development of multiple benign tumours originating from Schwann cells. Schwannomatosis is a member of the family of diseases known as Neurofibromatosis (NF). Patients with Schwannomatosis develop multiple Schwannomas on cranial, spinal and peripheral nerves. Read More

    Bilateral Mirror Image Cervical Neurofibroma in an Adult with Neurofibromatosis Type 1.
    Malays J Med Sci 2017 Mar 24;24(1):117-120. Epub 2017 Feb 24.
    Department of Pathology, Sir Sunder Lal Hospital, IMS BHU, Varanasi, Uttar Pradesh-221005, India.
    Neurofibromatosis type 1 (NF1) is an autosomal dominant disorder characterised by various phenotypic features like hyperpigmented spots, neurofibromas, Lisch nodules, skeletal abnormalities and tendency to develop neoplasms. Only few cases of Non-Familial Spinal Neurofibromatosis-1 (Non-FSNF1) have been described in literature with tumors involving the spinal roots at every level being even rarer. We reported an interesting case of bilateral symmetrical cervical neurofibroma with multiple spinal neurofibromas appearing as mirror image on CT, associated with non familial NF-1 as a rare presentation in a 25-year-old adult male. Read More

    Homozygous germ-line mutation of the PMS2 mismatch repair gene: a unique case report of constitutional mismatch repair deficiency (CMMRD).
    BMC Med Genet 2017 Apr 5;18(1):40. Epub 2017 Apr 5.
    Medical Genetics and Cancer Epidemiology, Genomic Medicine, Manchester Academic Health Science Centre, The University of Manchester, Oxford Road, Manchester, M13 9WL, UK.
    Background: Constitutional mismatch repair deficiency syndrome results from bi-allelic inheritance of mutations affecting the key DNA mismatch repair genes: MLH1, MSH2, MSH6 or PMS2. Individuals with bi-allelic mutations have a dysfunctional mismatch repair system from birth; as a result, constitutional mismatch repair deficiency syndrome is characterised by early onset malignancies. Fewer than 150 cases have been reported in the literature over the past 20 years. Read More

    Malignant Peripheral Nerve Sheath Tumor With Divergent Glandular Differentiation.
    Int J Surg Pathol 2017 Mar 1:1066896917696749. Epub 2017 Mar 1.
    1 Royal Marsden Hospital, London, UK.
    Malignant peripheral nerve sheath tumors (MPNST) are soft tissue neoplasms with evidence of nerve sheath differentiation. They usually arise from peripheral nerves or from preexisting benign nerve sheath neoplasms, often in patients with neurofibromatosis type 1 (NF1). The histologic diagnosis of MPNST is challenging as their morphology is highly variable, and there has been a lack of routine diagnostic immunohistochemical markers and specific genetic aberrations. Read More

    Ccl5 establishes an autocrine high-grade glioma growth regulatory circuit critical for mesenchymal glioblastoma survival.
    Oncotarget 2017 Mar 23. Epub 2017 Mar 23.
    Department of Neurology, Washington University School of Medicine, St. Louis, MO, USA.
    Glioblastoma (GBM) is the most common malignant brain tumor in adults, with a median survival of 15 months. These poor clinical outcomes have prompted the development of drugs that block neoplastic cancer cell growth; however, non-neoplastic cell-derived signals (chemokines and cytokines) in the tumor microenvironment may also represent viable treatment targets. One such chemokine, Ccl5, produced by low-grade tumor-associated microglia, is responsible for maintaining neurofibromatosis type 1 (NF1) mouse optic glioma growth in vivo. Read More

    Legius syndrome: A case report.
    J Dermatol 2017 Apr 5;44(4):459-460. Epub 2016 Nov 5.
    Division of Dermatology, Department of Medicine of Sensory and Motor Organs, Tottori University Faculty of Medicine, Yonago, Japan.
    Legius syndrome is a rare genetic disorder caused by heterozygous germ line loss-of-function SPRED1 mutation. In Japan, a family with Legius syndrome was first described in 2015 by Sakai et al. We described a first solitary case of Legius syndrome identified by next-generation sequencing in Japan. Read More

    Surgical management of solitary nerve sheath tumors originating around the epiconus or conus medullaris: a retrospective case analysis based on neurological function.
    Neurosurg Rev 2017 Apr 3. Epub 2017 Apr 3.
    Department of Neurosurgery, Osaka City University Graduate School of Medicine, 1-4-3 Asahi-machi, Abeno-ku, Osaka, 545-8585, Japan.
    The objective of this retrospective case analysis was to evaluate the surgical impact on neurological functional recovery in cases of solitary spinal nerve sheath tumors (NSTs) originating around the epiconus, conus medullaris, or cauda equina and not associated with neurofibromatosis. This 10-year surgical study included 30 cases of spinal NSTs originating around the spine level of T12-L1 (epiconus-to-conus medullaris: Epi-CM group), and 15 cases of spinal NSTs originating below the spine level of L2 (cauda equina: CE group). A minimally invasive posterior unilateral approach was applied in 22 of 30 subjects in the Epi-CM group and in 14 of 15 subjects in the CE group. Read More

    Hearing Optimization in Neurofibromatosis type 2: A Systematic Review.
    Clin Otolaryngol 2017 Apr 1. Epub 2017 Apr 1.
    Department of Genomic Medicine, Central Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Science Centre, Manchester, M13 9WL, UK.
    Background: It is common for patients with Neurofibromatosis type 2 to develop bilateral profound hearing loss hearing loss and this is one of the main determinants of quality of life in this patient group.

    Objectives: The aim of this systematic review was to review the current literature regarding hearing outcomes of treatments for vestibular schwannomas in neurofibromatosis type 2 including conservative and medical management, radiotherapy, hearing preservation surgery and auditory implantation in order to determine the most effective way of preserving or rehabilitating hearing Search Strategy: A MESH search in PubMed using search terms (("Neurofibromatosis 2"[Mesh]) AND "Neuroma, Acoustic"[Mesh]) AND "Hearing Loss"[Mesh] was performed. A search using keywords was also performed. Read More

    Neurofibromatosis type 2: Multiple intra-dermal tumors in a toddler.
    Am J Med Genet A 2017 May 3;173(5):1447-1449. Epub 2017 Apr 3.
    University of Manchester, Division of Evolution and Genomic Science, St Mary's Hospital, Manchester Academic Health Science Centre, Central Manchester Foundation Trust, Manchester, UK.

    Sonographic evaluation of renovascular hypertension in the pediatric population: State-of-the-art.
    J Clin Ultrasound 2017 Mar 28. Epub 2017 Mar 28.
    Department of Diagnostic Imaging, Schneider Children's Medical Center of Israel, Petach Tikva, Israel.
    Hypertension in children affects 2-5% of the pediatric population. Identifying secondary causes of hypertension is crucial, as some of these entities may be treatable. Renovascular hypertension accounts for 5-10% of the secondary causes of hypertension in children and is mainly related to fibromuscular dysplasia and neurofibromatosis type 1. Read More

    Epilepsy Mechanisms in Neurocutaneous Disorders: Tuberous Sclerosis Complex, Neurofibromatosis Type 1, and Sturge-Weber Syndrome.
    Front Neurol 2017 17;8:87. Epub 2017 Mar 17.
    Department of Neurology, Kennedy Krieger Institute, Johns Hopkins University School of Medicine , Baltimore, MD , USA.
    Neurocutaneous disorders are multisystem diseases affecting skin, brain, and other organs. Epilepsy is very common in the neurocutaneous disorders, affecting up to 90% of patients with tuberous sclerosis complex (TSC) and Sturge-Weber syndrome (SWS), for example. The mechanisms underlying the increased predisposition to brain hyperexcitability differ between disorders, yet some molecular pathways overlap. Read More

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