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    10914 results match your criteria Neurofibromatosis Type 1

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    Gene signature associated with benign neurofibroma transformation to malignant peripheral nerve sheath tumors.
    PLoS One 2017 24;12(5):e0178316. Epub 2017 May 24.
    Biocomputing Unit, Nacional Center for Biotechnology (CSIC), Campus Universidad Autónoma de Madrid, Cantoblanco, Madrid, Spain.
    Benign neurofibromas, the main phenotypic manifestations of the rare neurological disorder neurofibromatosis type 1, degenerate to malignant tumors associated to poor prognosis in about 10% of patients. Despite efforts in the field of (epi)genomics, the lack of prognostic biomarkers with which to predict disease evolution frustrates the adoption of appropriate early therapeutic measures. To identify potential biomarkers of malignant neurofibroma transformation, we integrated four human experimental studies and one for mouse, using a gene score-based meta-analysis method, from which we obtained a score-ranked signature of 579 genes. Read More

    Florid cemento-osseous dysplasia and peripheral giant cell granuloma in a patient with neurofibromatosis 1.
    An Bras Dermatol 2017 Mar-Apr;92(2):249-252
    Department of Oral Pathology, Universidade Federal do Rio Grande do Norte (UFRN) - Natal (RN), Brazil.
    We report a 35-year-old mulatto female patient with neurofibromatosis Type 1 who presented with facial asymmetry. The patient had two lesions: florid cemento-osseous dysplasia associated with peripheral giant cell granuloma. She was referred for surgical treatment of the peripheral giant cell granuloma and the florid cemento-osseous dysplasia was treated conservatively by a multidisciplinary team. Read More

    Radiation-Induced Glandular Malignant Peripheral Nerve Sheath Tumor.
    Int J Surg Pathol 2017 May 1:1066896917710718. Epub 2017 May 1.
    1 University of Pittsburgh Medical Center, Pittsburgh, PA, USA.
    Malignant peripheral nerve sheath tumors (MPNSTs) are aggressive soft-tissue tumors. They can occur in patients with neurofibromatosis type-1 (NF-1) or as sporadic tumors. Only 10% of MPNSTs are radiation induced. Read More

    Motor problems in children with neurofibromatosis type 1.
    J Neurodev Disord 2017 19;9:19. Epub 2017 May 19.
    Department of Paediatric Neurology, ENCORE NF1, Erasmus Medical Centre-Sophia Children's Hospital, Rotterdam, The Netherlands.
    Background: Children with the neurogenetic disorder neurofibromatosis type 1 (NF1) often have problems with learning and behaviour. In both parent reports and neuropsychological assessment, motor problems are reported in approximately one third to one half of the children with NF1. Studies using broad motor performance test batteries with relatively large groups of children with NF1 are limited. Read More

    Validation of a Next-Generation Sequencing Pipeline for the Molecular Diagnosis of Multiple Inherited Cancer Predisposing Syndromes.
    J Mol Diagn 2017 May 18. Epub 2017 May 18.
    Cancer Genetics Group, IPO Porto Research Center, Portuguese Oncology Institute of Porto, Porto, Portugal; Department of Genetics, Portuguese Oncology Institute of Porto, Porto, Portugal; Biomedical Sciences Institute, University of Porto, Porto, Portugal. Electronic address:
    Despite the growing knowledge of the genetic background behind the cancers that occur in a context of hereditary predisposition, personal or family cancer history may not be clear enough to support directional gene testing. Defined targeted next-generation sequencing gene panels allow identification of the causative disease mutations of multigene syndromes and differential diagnosis for syndromes with phenotypically overlapping characteristics. Herein, we established a next-generation sequencing analysis pipeline for the molecular diagnosis of multiple inherited cancer predisposing syndromes using the commercially available target sequencing panel TruSight Cancer. Read More

    Repeated haemorrhages in peripheral nerve sheath tumours of the salivary glands after minor injury.
    Br J Oral Maxillofac Surg 2017 May 17. Epub 2017 May 17.
    Department of Oral and Maxillofacial Surgery, Faculty of Medicine, Fukuoka University. Electronic address:
    Repeated haemorrhages in peripheral nerve sheath tumours of the salivary glands are rare. We report the case of a patient with neurofibromatosis type 1 who had two episodes of massive haemorrhage in his right parotid gland the day after a minor injury. Oral and maxillofacial surgeons should be aware that vasculopathy may occur in patients with these tumours. Read More

    The cell of origin dictates the temporal course of neurofibromatosis-1 (Nf1) low-grade glioma formation.
    Oncotarget 2017 May 3. Epub 2017 May 3.
    Department of Neurology and Washington University School of Medicine, St. Louis, MO, USA.
    Low-grade gliomas are one of the most common brain tumors in children, where they frequently form within the optic pathway (optic pathway gliomas; OPGs). Since many OPGs occur in the context of the Neurofibromatosis Type 1 (NF1) cancer predisposition syndrome, we have previously employed Nf1 genetically-engineered mouse (GEM) strains to study the pathogenesis of these low-grade glial neoplasms. In the light of the finding that human and mouse low-grade gliomas are composed of Olig2+ cells and that Olig2+ oligodendrocyte precursor cells (OPCs) give rise to murine high-grade gliomas, we sought to determine whether Olig2+ OPCs could be tumor-initiating cells for Nf1 optic glioma. Read More

    [Update on the treatment of RASopathies].
    Rev Neurol 2017 May;64(s03):S13-S17
    Hospital Infantil Universitario Nino Jesus, 28009 Madrid, Espana.
    Introduction: The term 'RASopathies' covers a series of diseases that present mutations in the genes that code for the proteins of the RAS/MAPK pathway. These diseases include neurofibromatosis type 1, Noonan syndrome, Legius syndrome, LEOPARD syndrome, Costello syndrome and cardiofaciocutaneous syndrome. Involvement of the RAS/MAPK pathway not only increases predisposition to develop tumours, but also determines the presence of phenotypic anomalies and alterations in learning processes. Read More

    High-frequency ultrasound imaging of cutaneous neurofibroma in patients with neurofibromatosis type I.
    Eur J Dermatol 2017 May 19. Epub 2017 May 19.
    Department of Dermatology, CHRU, Tours, France, INSERM U930, University François-Rabelais, Tours, France.
    Neurofibromas (NFs) are benign tumours arising from a nerve sheath, which are present in nearly all patients with neurofibromatosis type 1 (NF1). High-frequency ultrasound (HFU) systems, using frequencies over 20 MHz, were developed to improve visualization of skin tumours by means of increased resolution. To describe NFs by using HFU in patients with NF1. Read More

    Halolike Phenomenon Around a Café au Lait Spot Superimposed on a Mongolian Spot.
    Pediatr Dermatol 2017 May;34(3):e152-e153
    Division of Dermatology, Department of Experimental, Diagnostic and Specialty Medicine, Bologna, Italy.
    An 8-month-old Caucasian infant with neurofibromatosis type 1 presented with a congenital plexiform neurofibroma and multiple café au lait spots. A pale area surrounded one of the café au lait spots located on the left gluteus in the area of dermal melanocytosis. This halolike phenomenon results from the disappearance of the Mongolian spot around the café au lait spots, revealing normal pigmented skin. Read More

    Visuoperceptual processing in children with neurofibromatosis type 1: True deficit or artefact?
    Am J Med Genet B Neuropsychiatr Genet 2017 Jun;174(4):342-358
    Leuven Autism Research (LAuRes), KU Leuven, Leuven, Belgium.
    Impairments in visuoperceptual processing have long been considered a hallmark deficit of individuals with Neurofibromatosis type 1 (NF1). However, it is unclear which specific visuoperceptual subprocesses are impaired and whether impairments on these tasks really result from visuoperceptual impairments or rather from confounding factors like Executive Functioning (EF) impairments, lower intelligence (IQ) and/or co-occurring symptoms of Autism Spectrum Disorder (ASD). To answer these questions, we administered four visuoperceptual tasks and two control tasks in 39 children with NF1, 52 typically developing children and 52 children with ASD (8-18 years), all matched for age and gender. Read More

    Optical Coherence Tomography Angiography of Retinal Microvascular Changes Overlying Choroidal Nodules in Neurofibromatosis Type 1.
    Case Rep Ophthalmol 2017 Jan-Apr;8(1):214-220. Epub 2017 Apr 10.
    aDepartment of Ophthalmology, University Hospitals Leuven, Leuven, Belgium.
    Purpose: To report 3 cases of neurofibromatosis type 1 (NF1) with choroidal nodules associated with retinal microvascular changes imaged with optical coherence tomography angiography (OCTA).

    Methods: Small case series in 3 NF1 patients. OCTA examinations were performed by a trained examiner (J. Read More

    Malignant Peripheral Nerve Sheath Tumor of the Femur: A Rare Diagnosis Supported by Complete Immunohistochemical Loss of H3K27me3.
    Int J Surg Pathol 2017 May 1:1066896917709580. Epub 2017 May 1.
    1 Department of Musculoskeletal Oncology, National Cancer Center Hospital, Tokyo, Japan.
    The histological diagnosis of malignant peripheral nerve sheath tumor (MPNST) is challenging because of the wide morphological spectrum and suboptimal performance of conventional immunohistochemical markers. MPNST arising primarily in the bone is exceptional, and its definitive diagnosis, particularly out of the neurofibromatosis type 1 (NF1) context, is even more problematic. Recurrent inactivation of EED or SUZ12 in a majority of MPNSTs results in a complete loss of trimethylated histone H3 at lysine 27 (H3K27me3) immunoreactivity, making it a highly specific biomarker of MPNSTs. Read More

    Constitutional mismatch repair deficiency in a healthy child: on the spot diagnosis?
    Clin Genet 2017 May 14. Epub 2017 May 14.
    Department of Clinical Genetics, Leiden University Medical Centre, Leiden, the Netherlands.
    Constitutional mismatch repair deficiency (CMMRD) is a rare, recessively inherited childhood cancer predisposition syndrome caused by bi-allelic germline mutations in one of the mismatch repair genes. The CMMRD phenotype overlaps with that of neurofibromatosis type 1 (NF1), since many patients have multiple café-au-lait macules (CALM) and other NF1 signs, but no germline NF1 mutations. We report of a case of a healthy six-year-old girl who fulfilled the diagnostic criteria of NF1 with >6 CALM and freckling. Read More

    The Cellular Retinoic Acid Binding Protein 2 Promotes Survival of Malignant Peripheral Nerve Sheath Tumor Cells.
    Am J Pathol 2017 May 11. Epub 2017 May 11.
    Institute of Neuropathology, University Hospital Münster, Münster, Germany; Institute of Pathology, Brandenburg Medical School, Brandenburg, Germany. Electronic address:
    Malignant peripheral nerve sheath tumors (MPNSTs) are aggressive neoplasms that commonly occur in patients with neurofibromatosis type 1 (NF1). Effective chemotherapy is not available. To characterize a therapeutic target for treatment, we investigated the role of cellular retinoic acid binding protein 2 (CRABP2) in MPNST in vitro. Read More

    Cutaneous Malignant Peripheral Nerve Sheath Tumor.
    Surg Pathol Clin 2017 Jun 14;10(2):337-343. Epub 2017 Mar 14.
    Department of Pathology, University of Trieste School of Medicine, Strada di Fiume 449, Trieste 34149, Italy.
    Cutaneous malignant peripheral nerve sheath tumors (MPNSTs) are rare sarcomas of neuroectodermal origin arising in the dermis and/or subcutis. In contrast with their deep soft tissue and visceral counterparts, cutaneous MPNSTs are rarely associated with neurofibromatosis type 1. Two main subtypes of cutaneous MPNST can be distinguished histologically: conventional (ie, spindle cell) and epithelioid MPNST. Read More

    Whole tumor RNA-sequencing and deconvolution reveal a clinically-prognostic PTEN/PI3K-regulated glioma transcriptional signature.
    Oncotarget 2017 Apr 18. Epub 2017 Apr 18.
    Department of Neurology, Washington University School of Medicine, St. Louis, MO, USA.
    The concept that solid tumors are maintained by a productive interplay between neoplastic and non-neoplastic elements has gained traction with the demonstration that stromal fibroblasts and immune system cells dictate cancer development and progression. While less studied, brain tumor (glioma) biology is likewise influenced by non-neoplastic immune system cells (macrophages and microglia) which interact with neoplastic glioma cells to create a unique physiological state (glioma ecosystem) distinct from that found in the normal tissue. To explore this neoplastic ground state, we leveraged several preclinical mouse models of neurofibromatosis type 1 (NF1) optic glioma, a low-grade astrocytoma whose formation and maintenance requires productive interactions between non-neoplastic and neoplastic cells, and employed whole tumor RNA-sequencing and mathematical deconvolution strategies to characterize this low-grade glioma ecosystem as an aggregate of cellular and acellular elements. Read More

    Pediatric meningiomas: 65-year experience at a single institution.
    J Neurosurg Pediatr 2017 May 5:1-9. Epub 2017 May 5.
    Department of Neurosurgery, University of Iowa Hospitals and Clinics, Iowa City, Iowa; and.
    OBJECTIVE Meningiomas are relatively common, typically benign neoplasms in adults; however, they are relatively rare in the pediatric population. Pediatric meningiomas behave very differently from their adult counterparts, tending to have more malignant histological subtypes and recur more frequently. The authors of this paper investigate the risk factors, pathological subtypes, and recurrence rates of pediatric meningiomas. Read More

    [Hereditary tumor syndromes in neuropathology].
    Pathologe 2017 May;38(3):186-196
    Institut für Neuropathologie, Otto-von-Guericke-Universität Magdeburg, Leipziger Straße 44, 39120, Magdeburg, Deutschland.
    Neoplasms in the central (CNS) and peripheral nervous system (PNS) in hereditary tumor syndromes play an important role in the neuropathological diagnostics. The benign and malignant PNS and CNS tumors that occur in the frequent neurofibromatosis type 1 (NF1) and type 2 (NF2) often represent essential factors for the course of the disease in those affected. Furthermore, certain clinical constellations (e. Read More

    Comprehensive pharmacological profiling of neurofibromatosis cell lines.
    Am J Cancer Res 2017 1;7(4):923-934. Epub 2017 Apr 1.
    Department of Systems Pharmacology and Translational Therapeutics, Perelman School of Medicine, University of PennsylvaniaPhiladelphia, PA 19104, USA.
    Patients with Neurofibromatosis type 1 (NF1) and Neurofibromatosis type 2 (NF2) are predisposed to tumors of the nervous system. NF1 patients predominantly develop neurofibromas, and Malignant Peripheral Nerve Sheath Tumors (MPNST) while NF2 patients develop schwannomas and meningiomas. Here we quantified the drug sensitivities of NF1 and NF2 tumor cell lines in a high throughput platform. Read More

    Genotype-Phenotype Correlation in Patients With Germline Mutations of VHL, RET, SDHB, and SDHD Genes: Thai Experience.
    Clin Med Insights Endocrinol Diabetes 2017 20;10:1179551417705122. Epub 2017 Apr 20.
    Department of Medicine, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, Thailand.
    Mutations in the VHL, RET, SDHB, and SDHD genes are responsible for von Hippel-Lindau (VHL) disease, multiple endocrine neoplasia type 2 (MEN2), and familial paraganglioma, respectively. However, genotype-phenotype correlation data are lacking in Southeast Asia. A retrospective medical chart review was performed on patients referred to the genetics service. Read More

    Multiple spinal nerve enlargement and SOS1 mutation: further evidence of overlap between Neurofibromatosis type 1 and Noonan phenotype.
    Clin Genet 2017 Apr 29. Epub 2017 Apr 29.
    Dipartimento di Biochimica, Biofisica e Patologia Generale, Università degli Studi della Campania "Luigi Vanvitelli", Naples, Italy.
    Neurofibromatosis type 1 (NF1) has long been considered a well-defined, recognizable monogenic disorder, with neurofibromas constituting a pathognomonic sign. This dogma has been challenged by recent descriptions of patients with enlarged nerves or paraspinal tumors, suggesting that neurogenic tumors and hypertrophic neuropathy may be a complication of Noonan syndrome with multiple lentigines or RASopathy phenotype. We describe a 15-year-old boy, whose mother previously received clinical diagnosis of NF1 due to presence of bilateral cervical and lumbar spinal lesions resembling plexiform neurofibromas and features suggestive of Noonan syndrome. Read More

    Telomere erosion in NF1 tumorigenesis.
    Oncotarget 2017 Apr 9. Epub 2017 Apr 9.
    Division of Cancer and Genetics, Cardiff University, Heath Park, Cardiff, CF14 4XN, UK.
    Neurofibromatosis type 1 (NF1; MIM# 162200) is a familial cancer syndrome that affects 1 in 3,500 individuals worldwide and is inherited in an autosomal dominant fashion. Malignant Peripheral Nerve Sheath Tumors (MPNSTs) represent a significant cause of morbidity and mortality in NF1 and currently there is no treatment or definite prognostic biomarkers for these tumors. Telomere shortening has been documented in numerous tumor types. Read More

    Mosaic Neurofibromatosis Type 1 in Children: A Single-Institution Experience.
    J Cutan Med Surg 2017 Apr 1:1203475417708163. Epub 2017 Apr 1.
    3 Division of Clinical and Metabolic Genetics Hospital for Sick Children, Department of Molecular Genetics, University of Toronto, Toronto, Ontario, Canada.
    Background: Neurofibromatosis type 1 (NF1) is a neurocutaneous disorder caused by loss-of-function mutation in the NF1 gene. Segmental or mosaic NF1 (MNF) is an uncommon presentation of the NF1 result of postzygotic mutations that present with subtle localised clinical findings.

    Objectives: Our study's objectives were to describe the clinical characteristics of children with MNF. Read More

    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

    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 Jun 24;173(6):1714-1721. 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

    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

    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

    Targeted Disruption of NF1 in Osteocytes 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, 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 Jun 19;173(6):1521-1530. 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

    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

    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

    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

    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 May 11;23(5):446-450. 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

    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

    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

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