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    1 OF 321

    Dietary intervention rescues myopathy associated with neurofibromatosis type 1.
    Hum Mol Genet 2017 Dec 8. Epub 2017 Dec 8.
    Orthopaedic Research & Biotechnology, The Children's Hospital at Westmead, Westmead, NSW, Australia.
    Neurofibromatosis type 1 (NF1) is an autosomal dominant genetic disorder with complex symptomology. In addition to a predisposition to tumors, children with NF1 can present with reduced muscle mass, global muscle weakness, and impaired motor skills, which can have a significant impact on quality of life. Genetic mouse models have shown a lipid storage disease phenotype may underlie muscle weakness in NF1. Read More

    Spontaneously regressing brain lesions in Smith-Lemli-Opitz syndrome.
    Am J Med Genet A 2017 Dec 11. Epub 2017 Dec 11.
    Division of Translational Research, Eunice Kennedy Shriver National Institute of Human Development (NICHD), National Institutes of Health, Bethesda, Maryland.
    Smith-Lemli-Opitz syndrome (SLOS) is a metabolic disorder caused by an inborn error of cholesterol synthesis that affects the development of many organ systems. Malformations in the central nervous system typically involve midline structures and reflect abnormal growth and differentiation of neurons and supporting cells. Despite these defects in central nervous system development, brain tumor formation has only rarely been reported in association with SLOS. Read More

    Gamma Knife stereotactic radiosurgery for non-vestibular cranial nerve schwannomas.
    World Neurosurg 2017 Dec 6. Epub 2017 Dec 6.
    Division of neurosurgery, Department of surgery, Université de Sherbrooke, Centre de recherche du Centre Hospitalier Universitaire de Sherbrooke, Sherbrooke, Québec, Canada. Electronic address:
    Background: Non-vestibular cranial schwannomas represent a rare type of benign intracranial tumor. Few studies have evaluated the use of stereotactic radiosurgery (SRS) as a primary management option for these lesions. We therefore performed a retrospective review of our institution's experience focussing on efficacy with regards to tumor control and clinical symptom stabilization, as well as treatment safety. Read More

    Multiple gastrointestinal stromal tumors involving extragastrointestinal sites in neurofibromatosis type 1.
    Pathol Int 2017 Dec 8. Epub 2017 Dec 8.
    Department of Surgical Pathology, Sapporo Medical University, School of Medicine, South 1, West 16, Chuo-ku, Sapporo, Hokkaido 060-8543, Japan.

    Successful treatment of a ruptured left internal mammary artery aneurysm with a delayed diagnosis of type I neurofibromatosis.
    J Thorac Dis 2017 Sep;9(9):E739-E742
    Department of Thoracic and Cardiovascular Surgery, Chonnam National University Hwasun Hospital, Chonnam National University Medical School, Jeollanam-do, Korea.
    Neurofibromatosis type I (NF-1) induced vasculopathy is rare but catastrophic complication after aneurysmal rupture. We present the case of a 55-year-old female who developed hypovolemic shock because of left internal mammary artery (IMA) pseudoaneurysm rupture associated with NF-1. Even she was not detected NF-1 at the time of arrival in emergency room. Read More

    Prevalence of neurofibromatosis type 1 in the Finnish population.
    Genet Med 2017 Dec 7. Epub 2017 Dec 7.
    Department of Cell Biology and Anatomy, Institute of Biomedicine, University of Turku, Turku, Finland.
    PurposeThe incidence of neurofibromatosis 1 (NF1) is ~1/2,000 live births, but the current estimates of prevalence vary greatly. This retrospective total-population study was aimed at determining the prevalence of NF1 in Finland.MethodsAll secondary and tertiary referral centers of Finland were searched for NF1 patients. Read More

    Isolated Absent Thelarche in a Patient With Neurofibromatosis Type 1 and Acromegaly.
    Obstet Gynecol 2017 Dec 4. Epub 2017 Dec 4.
    Department of Obstetrics and Gynecology, Rush University Medical Center, Chicago, Illinois; and the National Institutes of Health, Bethesda, Maryland.
    Background: Isolated absent thelarche is a rare condition that is infrequently reviewed in the literature.

    Case: A 28-year-old woman with neurofibromatosis type 1 and acromegaly presented with absent breast development despite hormone therapy. Examination noted a normally developed woman with acromegalic features and Tanner stage I breasts. Read More

    Peripheral nerve sheath tumors of the upper extremity and hand in patients with neurofibromatosis type 1: topography of tumors and evaluation of surgical treatment in 62 patients.
    GMS Interdiscip Plast Reconstr Surg DGPW 2017 5;6:Doc15. Epub 2017 Dec 5.
    Department of Oral and Craniomaxillofacial Surgery, Eppendorf University Hospital, University of Hamburg, Hamburg.
    Objective: Neurofibromatosis type 1 (NF1) is an autosomal dominant tumor predisposition syndrome with a tendency to develop peripheral nerve sheath tumors (PNST). Plexiform neurofibromas (PNF) are detected in a high proportion of affected patients. The tumors can lead to severe disfigurement and are classified as precancerous. Read More

    Hypomelanotic melanoma detected by the "little red riding hood sign" in a patient with neurofibromatosis type 1.
    Dermatol Pract Concept 2017 Oct 15;7(4):71-73. Epub 2017 Jul 15.
    Department of Dermatology and Venereology, University of Trieste, Ospedale Maggiore, Trieste, Italy.
    Neurofibromatosis type 1 (NF1) is a genetic disorder commonly associated with an increased risk for development of malignancy, including skin cancers. Herein we describe a case of invasive melanoma occurring in a patient with NF1 and discuss the association between these two diseases, highlighting the importance of comparative clinical and dermoscopic approaches in this category of patients in which the detection of melanoma can be difficult because of the presence of multiple skin tumors. Read More

    [New opportunities in the optimization of epilepsy treatment in adolescents].
    Zh Nevrol Psikhiatr Im S S Korsakova 2017 ;117(9. Vyp. 2):70-74
    St. Petersburg State Pediatric Medical University, St. Petersburg, Russia.
    In the pubertal period, the most severe forms of childhood epilepsy persist and are modified; genetically determined syndromes, atypical for early and late age periods, make their debut. Hereditary predisposition, instability of homeostatic mechanisms, neuroendocrine restructuring at the age of puberty and the influence of factors contributing to the realization of a genetic defect lead to a long-term transformation of mediator systems and formation of epileptic activity in adolescents. The authors present common approaches in the treatment and characterization of the modern antiepileptic drug perampanel, which is highly effective in treatment of patients with resistant forms of epilepsy. Read More

    An Autopsy Case of Sudden Death in Neurofibromatosis Type 1 With Pheochromocytoma and Myocarditis.
    Am J Forensic Med Pathol 2017 Nov 28. Epub 2017 Nov 28.
    An autopsy case of sudden death in a 33-year-old man with neurofibromatosis type 1 (von Recklinghausen disease), pheochromocytoma, and myocarditis is reported. The decedent was found in his bedroom in cardiopulmonary arrest. Polypoid, elastic dermal papules on the neck, chest, abdomen, and back, and flat dark-brown macules on the chest and abdomen were observed. Read More

    Does elevated glucose metabolism correlate with higher cell density in Neurofibromatosis type 1 associated peripheral nerve sheath tumors?
    PLoS One 2017 5;12(12):e0189093. Epub 2017 Dec 5.
    Department of Biomedical Imaging and Image-guided Therapy, Division of Nuclear Medicine, Medical University of Vienna, Waehringer Guertel, Vienna, Austria, E.U.
    Purpose: To investigate whether elevated glucose metabolism in neurofibroma, determined by [F18]-FDG-PET, is correlated with cell density in MRI, as expressed through the apparent diffusion coefficient.

    Materials And Methods: Patients diagnosed with neurofibromatosis type 1 and peripheral nerve sheath tumors (PNST) were enrolled in this prospective, IRB-approved study. After a single [F18]-FDG injection, patients consecutively underwent [F18]-FDG-PET/CT and [F18]-FDG-PET/MRI on the same day. Read More

    Early development of infants with neurofibromatosis type 1: a case series.
    Mol Autism 2017 23;8:62. Epub 2017 Nov 23.
    Centre for Brain and Cognitive Development and Department of Psychology, Birkbeck, University of London, Malet Street, London, WC1E 7HX UK.
    Background: Prospective studies of infants at familial risk for autism spectrum disorder (ASD) have yielded insights into the earliest signs of the disorder but represent heterogeneous samples of unclear aetiology. Complementing this approach by studying cohorts of infants with monogenic syndromes associated with high rates of ASD offers the opportunity to elucidate the factors that lead to ASD.

    Methods: We present the first report from a prospective study of ten 10-month-old infants with neurofibromatosis type 1 (NF1), a monogenic disorder with high prevalence of ASD or ASD symptomatology. Read More

    A rare case of diffuse neurofibroma masquerading as a hemangioma: a radiological perspective.
    J Ultrasound 2017 Dec 7;20(4):343-346. Epub 2017 Nov 7.
    The Department of Radiodiagnosis, Jawaharlal Nehru Medical College, Aligarh Muslim University, Aligarh, UP India.
    Diffuse neurofibroma is a rarely encountered subtype of neurofibroma but the most common to be misdiagnosed. Its imaging appearance is very similar to that of a vascular malformation, and it is often labelled one until a biopsy proves it to be otherwise. The infrequency of its association with neurofibromatosis makes it a rare and difficult diagnosis. Read More

    Segmental distribution of nodules on trunk.
    J Fam Pract 2017 Dec;66(12):765-767
    San Antonio Uniformed Services Health Education Consortium, TX, USA.
    A 70-year-old Caucasian man presented with a longstanding history of numerous nontender, fleshy, skin-colored papules on his trunk, ranging from 3 to 8 mm in size. They were noted incidentally during an examination of unrelated nonhealing lesions on the patient's left cheek. He said the lesions on his trunk first appeared when he was 28 years old and had continued to grow in size and number. Read More

    The importance of pheochromocytoma case detection in patients with neurofibromatosis type 1: A case report and review of literature.
    SAGE Open Med Case Rep 2017 16;5:2050313X17741016. Epub 2017 Nov 16.
    Endocrinology Service, Department of Medicine, San Antonio Military Medical Center, San Antonio, TX, USA.
    Neurofibromatosis type 1 is a complex, multi-system genetic disorder that is associated with an increased prevalence of pheochromocytoma and paraganglioma compared to the general population, 1.0%-5.7% versus 0. Read More

    Metastatic Epithelioid Malignant Peripheral Nerve Sheath Tumor in a Known Case of Neurofibromatosis-1, Cytomorphological Appearance, and Critical Analysis of Immunohistochemistry.
    Indian J Med Paediatr Oncol 2017 Jul-Sep;38(3):387-390
    Department of Pathology, Hindu Rao Hospital, North Delhi Municipal Corporation, New Delhi, India.
    Malignant peripheral nerve sheath tumors (MPNSTs) are rare soft tissue tumors commonly arising from nerve roots in the extremities with a predilection in neurofibromatosis (NF) patients. MPNSTs are known to behave aggressively, with worse prognosis in nonresectable cases, and a 5-year survival of about 52% and 15% in resectable and unresectable cases, respectively. Although cytological diagnosis in a known case of NF-1 is possible, however, in the absence of any associated syndrome in a sporadic case, it is very challenging to accurately diagnose this tumor. Read More

    Metaplastic Carcinoma of Breast and Neurofibromatosis 1: A Rare Association.
    Indian J Med Paediatr Oncol 2017 Jul-Sep;38(3):374-376
    Department of Surgical Oncology, St. John's Medical College, Bengaluru, Karnataka, India.
    Neurofibromatosis 1 (NF1) patients are generally at higher risk of developing common malignant tumors such as brain and soft tissue tumors. These patients are 5-fold increased the risk of developing breast cancer by the age of 50 years after that the risk remains the same. The most common reported cancer is infiltrating duct carcinoma. Read More

    Lipoamide Inhibits NF1 Deficiency-induced Epithelial-Mesenchymal Transition in Murine Schwann Cells.
    Arch Med Res 2017 Nov 29. Epub 2017 Nov 29.
    Department of Plastic and Aesthetic Maxillofacial Surgery, The First Affiliated Hospital of Xi'an Jiaotong University, Shaanxi, Xi'an, China. Electronic address:
    Background And Aims: Neurofibromatosis type I (NF1) is one of the most common neurocutaneous syndromes characterized by development of adult neurofibromas which is mainly made up of Schwann cells. The disease is generally accepted to be caused by inactivation mutation of Nf1 gene. And Nf1 deficiency had been reported to lead to ROS overproduction and epithelial-mesenchymal transition (EMT) phenotype. Read More

    Characteristics of cerebellar glioblastomas in adults.
    J Neurooncol 2017 Dec 1. Epub 2017 Dec 1.
    Service de Neurochirurgie D, Groupe Hospitalier Est, Hospices Civils de Lyon, 59 Bvd Pinel, 69677, Bron Cedex, France.
    Adult cerebellar glioblastomas (cGBM) are rare and their characteristics remain to be fully described. We analyzed the characteristics of 17 adult patients with cGBM and compared them to a series of 103 patients presenting a supra-tentorial glioblastoma (stGBM). The mean age at GBMc diagnosis was 53. Read More

    Spinal ependymomas in NF2: a surgical disease?
    J Neurooncol 2017 Nov 29. Epub 2017 Nov 29.
    Department of Neurology, Salford Royal NHS Foundation Trust, Manchester Academic Health Science Centre, Manchester, UK.
    The management of spinal cord ependymomas in Neurofibromatosis Type 2 (NF2) has traditionally been conservative, in contrast to the management of sporadic cases; the assumption being that, in the context of NF2, they did not cause morbidity. With modern management and improved outcome of other NF2 tumours, this assumption, and therefore the lack of role for surgery, has been questioned. To compare the outcome of conservative treatment of spinal ependymomas in NF2 with surgical intervention in selected patients. Read More

    Pilomatrixoma of the Neck/Shoulder Region Mimicking a Rapidly Growing Neoplasm of Peripheral Nerve Sheath Origin in Neurofibromatosis Type 1.
    Anticancer Res 2017 12;37(12):6907-6910
    Institute of Neuropathology, Eppendorf University Hospital, University of Hamburg, Hamburg, Germany.
    Neurofibromatosis type 1 (NF1) is an autosomal dominant hereditary disorder. Neurofibroma is the most common neoplasm of this disease. This lesion is characterized by circumscribed soft or knotty skin tumors derived from peripheral nerve sheath cells. Read More

    Measurements of Retinal Nerve Fiber Thickness and Ganglion Cell Complex in Neurofibromatosis Type 1, with and Without Optic Pathway Gliomas: A Case Series.
    Curr Eye Res 2017 Nov 29:1-4. Epub 2017 Nov 29.
    c Department of Radiology, Faculty of Medicine , Baskent University, Adana Training and Research Center , Adana , Turkey.
    Purpose: The aim of this study was to investigate differences in retinal nerve fiber layer (RNFL) and ganglion cell complex (GCC) thicknesses in neurofibromatosis 1 (NF1) cases, with and without optic pathway gliomas (OPGs).

    Materials And Methods: In total, 33 eyes of 33 subjects were evaluated in this prospective observational case series. Twenty-one patients with a diagnosis of NF1 were enrolled. Read More

    The effect of estradiol, testosterone, and human chorionic gonadotropin on the proliferation of Schwann cells with NF1 +/- or NF1 -/- genotype derived from human cutaneous neurofibromas.
    Mol Cell Biochem 2017 Nov 28. Epub 2017 Nov 28.
    Department of Cell Biology and Anatomy, Institute of Biomedicine, University of Turku, Kiinamyllynkatu 10, 20520, Turku, Finland.
    Dermal neurofibromas are the hallmarks of neurofibromatosis type 1 (NF1). Neurofibromas harbor Schwann cells with two different genotypes: Schwann cells which carry the germline mutation and a healthy NF1 allele (NF1 +/-), and a subpopulation of Schwann cells which harbor the so-called second hit leading to inactivation of both NF1 alleles (NF1 -/-). The second hit in the NF1 gene of Schwann cells is considered to be the initial step in the development of neurofibromas. Read More

    Developing Cervical Hematoma Following Jaw Thrust Maneuver Triggered Diagnosis of Neurofibromatosis: A Case Report and Brief Literature Review.
    Anesth Pain Med 2017 Jun 14;7(3):e41941. Epub 2017 Jan 14.
    Department of Anesthesiology, Imam Hossein Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
    A 25-year-old man underwent an excision of a thigh mass under general anesthesia without any complication. After the operation, he developed oxygen desaturation requiring a jaw thrust maneuver. A rapidly expanding hematoma on the right side of the neck was formed shortly after the application of the maneuver. Read More

    LukS-PV-Regulated MicroRNA-125a-3p Promotes THP-1 Macrophages Differentiation and Apoptosis by Down-Regulating NF1 and Bcl-2.
    Cell Physiol Biochem 2017 Nov 27;44(3):1093-1105. Epub 2017 Nov 27.
    Department of Laboratory Medicine, Anhui Provincial Hospital, Anhui Medical University, Hefei, China.
    Background/aims: LukS-PV is a component of Panton-Valentine leukocidin (PVL). We have previously demonstrated that LukS-PV potently promoted differentiation and induced apoptosis in THP-1 cells. However, the precise mechanisms of these actions remain unknown. Read More

    Poliosis and Neurofibromatosis Type 1: Two Familiar Cases and Review of the Literature.
    Skin Appendage Disord 2017 Oct 17;3(4):219-221. Epub 2017 Jun 17.
    Dermatology, Department of Experimental, Diagnostic and Specialty Medicine, S. Orsola-Malpighi Hospital, University of Bologna, Bologna, Italy.
    Two brothers were referred to our clinic for reevaluation of neurofibromatosis type 1 (NF1). Both brothers presented a peculiarity that is not so common in NF1: poliosis overlying plexiform neurofibromas on the scalp. Poliosis overlying plexiform neurofibromas is rarely reported in the literature. Read More

    Boundary cap cells in development and disease.
    Curr Opin Neurobiol 2017 Nov 22;47:209-215. Epub 2017 Nov 22.
    Institut de Biologie de l'Ecole Normale Supérieure (IBENS), 46 rue d'Ulm, 75005 Paris, France. Electronic address:
    Broad plasticity of the peripheral glia is an emerging concept during development of the peripheral nervous system (PNS). Recent studies have identified the neural crest-derived boundary caps (BCs), as a multitask stem cell population of the developing PNS. BC progeny migrate along the nerves to provide the major glial component of nerve roots and nerve terminals in the skin. Read More

    Clinicopathologic Features of Benign Neurogenic Tumor of Urinary Bladder.
    Int J Surg Pathol 2017 Nov 1:1066896917742722. Epub 2017 Nov 1.
    1 Seoul National University, Seoul, Korea.
    Background: Benign neurogenic tumor involving the urinary bladder is a very rare and heterogeneous disease group. The clinical and radiological diagnosis may be difficult because of the disease's rarity and the histological similarities of each disease especially in needle biopsy specimens. However, accurate diagnosis is very important because the clinical course of each disease, even within the same diseases, is quite variable. Read More

    The clinical genetics of phaeochromocytoma and paraganglioma.
    Arch Endocrinol Metab 2017 Oct;61(5):490-500
    Oxford Centre for Diabetes, Endocrinology and Metabolism, University of Oxford, UK.
    Phaeochromocytoma and paraganglioma are rare catecholamine-producing tumours, recognised to have one of the richest hereditary backgrounds of all neoplasms, with germline mutations seen in approximately 30% of patients. They can be a part of genetic syndromes such as MEN 2 or Neurofibromatosis type 1, or can be found as apparently sporadic tumours. Germline mutations are almost always found in syndromic patients. Read More

    Cognitive and Behavioral Disorders in Children with Neurofibromatosis Type 1.
    Front Pediatr 2017 30;5:227. Epub 2017 Oct 30.
    Neurosciences Research Group, Medicine and Health Sciences School, Universidad del Rosario, Bogota, Colombia.
    Aim: The last systematic review of research on the behavior of children with neurofibromatosis type 1 (NF1) was in 2012. Since then, several important findings have been published. Therefore, the study aim was to synthesize recent relevant work related to this issue. Read More

    Expression of the BRAF L597Q mutation in sporadic neurofibromas of the upper extremity.
    Exp Mol Pathol 2017 Dec 21;103(3):276-278. Epub 2017 Nov 21.
    Department of Plastic Surgery, University of California, Irvine, United States.
    The pathogenesis of neurofibromas is poorly understood outside of neurofibromatosis (NF). The BRAF proto-oncogene has been implicated in malignant peripheral nerve sheath tumors (PNSTs), however its role in neurofibromas has not been described. In this study, we identify a BRAF mutation in a 61-year old non-NF patient with a history of sporadic and recurrent neurofibromas localized to the right upper extremity. Read More

    Spontaneous Rupture of Multiple Occipital Artery Aneurysms in a Patient With Neurofibromatosis Type 1.
    Vasc Endovascular Surg 2017 Jan 1:1538574417742285. Epub 2017 Jan 1.
    2 Department of Clinical Sciences and Community Health, Università degli Studi di Milano, Milan, Italy.
    Neurofibromatosis type 1 (NF-1) is an autosomal dominant genetic disorder, mainly characterized by skin and peripheral nervous system abnormalities. Uncommonly, NF-1 may be associated with peripheral or supra-aortic trunks artery aneurysms. We report a case of symptomatic multiple occipital artery aneurysms detected in a 53-year-old woman affected by sporadic NF-1. Read More

    Voice and Swallowing Dysfunction in Neurofibromatosis 2.
    Otolaryngol Head Neck Surg 2017 Nov 1:194599817741839. Epub 2017 Nov 1.
    2 Department of Neurology, Johns Hopkins School of Medicine, Baltimore, Maryland, USA.
    Objective Neurofibromatosis 2 (NF2) is a neuro-oncologic condition that presents with bilateral vestibular schwannomas of the cerebellopontine angle (CPA). Voice and swallowing impairment can occur from direct involvement or compression of the vagus nerve or as the result of surgical excision of CPA tumors. The objectives in this study are to (1) assess the prevalence of voice and swallowing impairments and (2) analyze the effects of vagal dysfunction in patients with NF2. Read More

    Next generation panel sequencing identifies NF1 germline mutations in three patients with pheochromocytoma but no clinical diagnosis of Neurofibromatosis Type 1.
    Eur J Endocrinol 2017 Nov 20. Epub 2017 Nov 20.
    B Klink, Institute for Clinical Genetics, Faculty of Medicine Carl Gustav Carus, TU Dresden, Fetscherstraße 74, 01307 Dresden, Germany.
    Objective Our objective was to improve molecular diagnostics in patients with hereditary pheochromocytoma and paraganglioma (PPGL) by using next generation sequencing (NGS) multi-gene panel analysis. Derived from this study we here present three cases that were diagnosed with NF1 germline mutations but did not have a prior clinical diagnosis of Neurofibromatosis Type 1 (NF1). Design We performed genetic analysis of known tumor predisposition genes, including NF1, using a multi-gene NGS enrichment-based panel applied to a total of 1029 PPGL patients. Read More

    A Unique Case of Carotid Splaying by a Cervical Vagal Neurofibroma and the Role of Neuroradiology in Surgical Management.
    Cureus 2017 Sep 7;9(9):e1658. Epub 2017 Sep 7.
    Department of Surgery, University of Toledo Medical Center.
    Carotid splaying, also known as the Lyre sign, is a widening of the carotid bifurcation due to the displacement of the internal carotid artery and the external carotid artery just distal to the point of divergence. This phenomenon is classically exhibited by highly vascularized carotid body tumors and, in rare cases, by cervical sympathetic chain schwannomas. Demonstration of the Lyre sign by a cervical vagal neurofibroma, however, is a unique occurrence that has not been previously documented in the literature. Read More

    Repeated Multiple Neurofibromatosis Type 1 in the Right Lower Limb: A Case Report.
    World J Oncol 2017 Apr 4;8(2):58-61. Epub 2017 May 4.
    Department of Orthopedics, Artificial Joints Engineering and Technology, Research Center of Jiangxi Province, Nanchang, China.
    Neurofibromatosis type 1 (NF1) is an autosomal-dominant genetic disease characterized by the presence of multiple neurofibromas. We encountered a unique case of NF1 that manifested as a recurrent soft tissue neurofibroma in the right lower limb that developed over a period of 16 years. The patient presented with a painless mass that was initially diagnosed as inflammatory changes via computed tomography and magnetic resonance imaging. Read More

    Natural history of primary paediatric optic nerve sheath meningioma: case series and review.
    Br J Ophthalmol 2017 Nov 16. Epub 2017 Nov 16.
    Department of Ophthalmology, South Australian Institute of Ophthalmology, Adelaide, South Australia, Australia.
    Purpose: To study the natural history, clinical and radiological characteristics of primary paediatric optic nerve sheath meningioma (PPONSM).

    Methods: Retrospective study of eight paediatric patients who were treated between 1994 and 2016 at the University Hospital Zurich, Switzerland and the Royal Adelaide Hospital, Australia. Clinical records and imaging studies were reviewed. Read More

    The effect of parental age on NF1 patients in Turkey.
    J Community Genet 2017 Nov 15. Epub 2017 Nov 15.
    Department of Medical Biology, TOBB University of Economics and Technology, Faculty of Medicine, Ankara, Turkey.
    Neurofibromatosis type 1 (NF1) is the most common neurogenetic disorder worldwide, and its clinical presentations are highly variable. NF1 is caused by mutations in the NF1 gene, and 50% of NF1 cases are sporadic, which occur in the absence of a family history of the disease and usually result from a new mutation in the germline of a parent. Advanced paternal age may increase the risk for germinal NF1 mutations; however, some dominant conditions, including neurofibromatosis, have shown a lesser association with paternal age, although there are conflicting reports in the literature. Read More

    Plexiform Neurofibroma of Clitoris.
    J Pediatr Genet 2017 Dec 2;6(4):244-246. Epub 2017 May 2.
    Department of Pediatric Genetics, Amrita Institute of Medical Sciences & Research Center, Cochin, Kerala, India.
    The most frequent genital presentation of neurofibromatosis in females is clitoromegaly. We report a case of a 5-year-old girl with neurofibromatosis type 1 with clitoral plexiform neurofibromatosis. Clitoroplasty was done, and the histopathology confirmed the diagnosis. Read More

    Long-term Hearing Preservation After Resection of Vestibular Schwannoma: A Systematic Review and Meta-analysis.
    Otol Neurotol 2017 Dec;38(10):1505-1511
    *Department of Otolaryngology†Department of Biostatistics and Research Epidemiology, Henry Ford Health System, Detroit, Michigan.
    Objective: The objective is to perform a systematic review and meta-analysis of the literature on the long-term results of hearing preservation after vestibular schwannoma resection.

    Data Sources: Ovid/Medline, PubMed, Embase, and the Cochrane library from January 1980 to January 2015.

    Study Selection: Inclusion criteria: age ≥18 years, minimum 10 patients in the treatment group, hearing preserving microsurgery, no previous radiation treatment, serviceable hearing at immediate postop follow-up, hearing outcomes reported using Gardner Robinson or the American Academy of Otolaryngology-Head and Neck Surgeons hearing grading scales, and average follow-up of 5 years. Read More

    Metaplastic spindle cell carcinoma of the breast in a patient with neurofibromatosis type 1.
    Breast J 2017 Nov 15. Epub 2017 Nov 15.
    Department of Pathology, Gyeongsang National University Changwon Hospital, Gyeongsang National University School of Medicine, Changwon, Korea.
    We report a unique case of a 67-year-old woman with neurofibromatosis type 1, who was also diagnosed with metaplastic spindle cell carcinoma of the left breast. She had many neurofibromatosis lesions on her body, as well as the mass in the left breast. After the breast mass was diagnosed as a malignant mesenchymal tumor by core needle biopsy, the patient underwent left modified radical mastectomy. Read More

    Limitations of the Pax7-creERT2 transgene for driving deletion of Nf1 in adult mouse muscle.
    Int J Dev Biol 2017 ;61(8-9):531-536
    Orthopaedic Research and Biotechnology, The Children's Hospital at Westmead, Westmead, NSW, Australia.
    Neurofibromatosis Type 1 (NF1) is an autosomal dominant genetic disorder that results in a variety of characteristic manifestations. Prior studies have shown reduced muscle size and global skeletal muscle weakness in children with NF1. This associated weakness can lead to significant challenges impacting on quality of life. Read More

    Glioblastoma in neurofibromatosis 1 patients without IDH1, BRAF V600E, and TERT promoter mutations.
    Brain Tumor Pathol 2017 Nov 14. Epub 2017 Nov 14.
    Department of Neurosurgery, Tohoku University School of Medicine, Sendai, Japan.
    Pilocytic astrocytomas and low-grade gliomas are more common compared with glioblastomas in patients with neurofibromatosis 1 (NF1). A recent genome-wide analysis has shown frequent NF1 gene alterations in the mesenchymal subtype of a glioblastoma; however, little is known about clinicopathological features of glioblastomas in NF1 patients (NF1 glioblastomas). We analyzed four NF1 glioblastomas. Read More

    Malignant Peripheral Nerve Sheath Tumor of the Inguinum and Angiosarcoma of the Scalp in a Child with Neurofibromatosis Type 1.
    Case Rep Pathol 2017 24;2017:7542825. Epub 2017 Aug 24.
    Institute of Pathology, School of Medicine, University of Zagreb, Šalata 10, 10000 Zagreb, Croatia.
    Benign and malignant tumors are common in the setting of neurofibromatosis type 1 (NF1). Malignant peripheral nerve sheath tumor (MPNST) and angiosarcoma are rare tumors in children and adolescents and mostly occur in young patients in relation to NF1. Both histological types can be present in the same tumor mass in patients with NF1. Read More

    SARC006: Phase II Trial of Chemotherapy in Sporadic and Neurofibromatosis Type 1 Associated Chemotherapy-Naive Malignant Peripheral Nerve Sheath Tumors.
    Sarcoma 2017 12;2017:8685638. Epub 2017 Sep 12.
    Pediatric Oncology Branch, NCI, CCR, Bethesda, MD, USA.
    Background: Worse chemotherapy response for neurofibromatosis type 1- (NF1-) associated compared to sporadic malignant peripheral nerve sheath tumors (MPNST) has been reported.

    Methods: We evaluated the objective response (OR) rate of patients with AJCC Stage III/IV chemotherapy-naive NF1 MPNST versus sporadic MPNST after 4 cycles of neoadjuvant chemotherapy, 2 cycles of ifosfamide/doxorubicin, and 2 cycles of ifosfamide/etoposide. A Simon optimal two-stage design was used (target response rate 40%). Read More

    Neurofibromatosis type-1 is a prognostic indicator in human gastric carcinoma.
    Oncotarget 2017 Oct 3;8(47):82910-82919. Epub 2017 Aug 3.
    Department of Oncology, Affiliated Hospital of Shandong Academy of Medical Sciences, Jinan, Shandong, China.
    We investigated whether the Neurofibromatosis type-1(NF1) gene was of prognostic relevance to gastric cancer (GC) patients. Immunohistochemical staining of 160 matched GC tumor and adjacent normal tissue samples showed that 58.1% (93/160) of GC samples were NF1-positive as compared to 94. Read More

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