18,424 results match your criteria Neurofibromatosis

Predictors of progression in radiation-induced versus nonradiation-induced pediatric meningiomas: a large single-institution surgical experience.

J Neurosurg Pediatr 2021 Jun 11:1-7. Epub 2021 Jun 11.

1Department of Neurosurgery, Boston Children's Hospital.

Objective: The goal in this study was to outline unique differences between radiation-induced and nonradiation-induced pediatric meningiomas and to identify independent risk factors of tumor recurrence/progression.

Methods: This is a retrospective cohort study of all pediatric meningiomas diagnosed and surgically treated at the authors' institution between 1993 and 2017. Multivariable Cox regression was applied to identify independent risk factors for tumor recurrence/progression. Read More

View Article and Full-Text PDF

An unusual nevus spilus and neurofibromatosis type 1.

Daniele Torchia

Indian J Dermatol Venereol Leprol 2021 May 8. Epub 2021 May 8.

Department of Dermatology, James Paget University Hospital, Great Yarmouth, England.

View Article and Full-Text PDF

Retinal Vascular Abnormalities in Children with Neurofibromatosis type 1.

Retina 2021 Jun 7. Epub 2021 Jun 7.

Ophthalmology department, Hôpital Universitaire Necker-Enfants malades, AP-HP, Paris, France INSERM, UMRS 1138, Team 17, From Physiopathology of Ocular Diseases to Clinical Development, Paris University, Paris, France Borelli Centre, UMR 9010, CNRS-SSA-ENS Paris Saclay-Paris University, Paris, France.

Purpose: Retinal vascular abnormalities (RVA) have been recently described in patients with neurofibromatosis type 1 (NF1) as vascular tortuosity, best visible on infrared imaging. This study assessed clinical RVA's characteristics in a large series of children with NF1.

Methods: This retrospective observational study was conducted in children (0 - 18 years old) with an NF1 diagnosis. Read More

View Article and Full-Text PDF

Assessment of Tumor Volume Dynamics and Outcome After Radiosurgery for the Treatment of Vestibular Schwannoma: A Single-Center Experience.

Otol Neurotol 2021 Jul;42(6):e750-e757

Department of Radiation Oncology.

Objective: To assess the factors affecting early local and audiometric outcomes in vestibular schwannoma (VS) patients treated with stereotactic radiosurgery (SRS).

Study Design: A retrospective review of medical records.

Setting: Tertiary referral center. Read More

View Article and Full-Text PDF

Adaptation of a Live Video Mind-Body Program to a Web-Based Platform for English-Speaking Adults With Neurofibromatosis: Protocol for the NF-Web Study.

JMIR Res Protoc 2021 Jun 10;10(6):e27526. Epub 2021 Jun 10.

Integrated Brain Health Clinical and Research Program, Department of Psychiatry, Massachusetts General Hospital, Boston, MA, United States.

Background: Neurofibromatosis (NF) is a rare genetic condition associated with lower but modifiable quality of life (QoL). Although a virtual live video program (Relaxation Response Resiliency Program for Neurofibromatosis [3RP-NF]; efficacy randomized controlled trial underway) that we created has been made available, ongoing barriers impede some patients from engaging in this intervention. A necessary next step is to develop a stand-alone web-based intervention that reduces barriers to accessing NF-specific psychosocial care. Read More

View Article and Full-Text PDF

Case report of a man with multiple paragangliomas and pathogenic germline variants in both NF1 and SDHD.

Cancer Genet 2021 May 25;256-257:110-114. Epub 2021 May 25.

Department of Medical and Molecular Genetics, King's College London, Guy's Hospital, London SE1 9RT, United Kingdom; Department of Clinical Genetics, Guy's and St Thomas' NHS Foundation Trust, London SE1 9RT, United Kingdom. Electronic address:

We report a novel case of multiple paragangliomas in a patient who was identified with pathogenic variants in both NF1 and SDHD genes. The proband is a man with known familial NF1 disease, diagnosed clinically in childhood. Multiple head and neck paragangliomas (HNPGL) were found during investigations for acute left sided neurological symptoms, in the region of his known plexiform neurofibroma. Read More

View Article and Full-Text PDF

DINs: Deep Interactive Networks for Neurofibroma Segmentation in Neurofibromatosis Type 1 on Whole-Body MRI.

IEEE J Biomed Health Inform 2021 Jun 9;PP. Epub 2021 Jun 9.

Neurofibromatosis type 1 (NF1) is an autosomal dominant tumor predisposition syndrome that involves the central and peripheral nervous systems. Accurate detection and segmentation of neurofibromas are essential for assessing tumor burden and longitudinal tumor size changes. Automatic convolutional neural networks (CNNs) are sensitive and vulnerable as tumors' variable anatomical location and heterogeneous appearance on MRI. Read More

View Article and Full-Text PDF

[Sarcomatous transformation of Recklinghausen´s disease].

Pan Afr Med J 2021 11;38:256. Epub 2021 Mar 11.

Service de Dermatologie et Vénérologie, Hôpital Universitaire Hassan II, Fès, Maroc.

View Article and Full-Text PDF

Diffuse Tracheobronchial Neurofibromatosis and Papillomatosis. Key Diagnostic Aspects and Treatment.

Ann Thorac Surg 2021 Jun 5. Epub 2021 Jun 5.

Thoracic Surgery Division. Brigham and Women´s Hospital. Boston, MA. Electronic address:

Diffuse tracheobronchial neurofibromatosis is a rare condition and its clinical manifestations include obstruction, cough, wheezing and dyspnea. Furthermore, the limited amount of data makes treatment decisions challenging. In addition, airway papillomatosis tends to affect the upper airway and the larynx, in the form of well-delimited lesions leading to obstruction, predominantly in children. Read More

View Article and Full-Text PDF

Establishment of in-hospital clinical network for patients with neurofibromatosis type 1 in Nagoya University Hospital.

Sci Rep 2021 Jun 7;11(1):11933. Epub 2021 Jun 7.

Department of Psychiatry, Nagoya University Graduate School of Medicine, 65 Tsurumai, Showa, Nagoya, Aichi, 466-8550, Japan.

Neurofibromatosis type 1 (NF1) is a genetic multisystem disorder. Clinicians must be aware of the diverse clinical features of this disorder in order to provide optimal care for it. We have set up an NF1 in-hospital medical care network of specialists regardless of patient age, launching a multidisciplinary approach to the disease for the first time in Japan. Read More

View Article and Full-Text PDF

Renal manifestations in children with neurofibromatosis type 1.

Eur J Pediatr 2021 Jun 6. Epub 2021 Jun 6.

Faculty of Medicine, Department of Pediatric Neurology, Firat University, Elazig, Turkey.

Neurofibromatosis type 1 (NF1) is an autosomal-dominant neurocutaneous syndrome affecting various parts of the body, including the renovascular and urinary systems. We evaluated the renovascular, urinary, glomerular, and tubular functions of children with NF1. We compared blood pressures, urinary findings, and renal glomerular and tubular functions in children with NF1 with those of a healthy age- and gender-matched control group. Read More

View Article and Full-Text PDF

Bilateral congenital pseudarthrosis of the tibia with neurofibromatosis type 1.

J Pak Med Assoc 2021 May;71(5):1499-1502

Department of Orthopedics and Traumatology, KHSU School of Medicine, Evliya Celebi Education and Research Hospital, Turkey.

Neurofibromatosis type 1 is an autosomal dominant, common genetic disorder that affects many systems, including the skeleton and neurocutaneous system. Skeletal involvement is seen in 38% of patients with NF1. Bowing deformity and pseudarthrosis are observed in 5. Read More

View Article and Full-Text PDF

Pediatric Voice Disorders from the Perspective of Rare Diseases.

J Voice 2021 Jun 2. Epub 2021 Jun 2.

Department of Otorhinolaryngology Head and Neck Surgery, Faculty of Medicine, Ankara University, Ankara, Turkey.

Objective: This study aims to present rare pediatric voice disorders, which are usually reported as case reports in the literature, with their clinical features, treatment options, and prognosis, and to emphasize clinical findings that may be associated with rare diseases.

Methods: The clinical records of the pediatric patients presented with dysphonia were reviewed between 2014 and 2019. The terminology "rare disease" is used to describe diseases where the average prevalence thresholds are between 40 to 50 cases/100,000 people. Read More

View Article and Full-Text PDF

Ruptured tibial artery in neurofibromatosis type 1: A case report.

Int J Surg Case Rep 2021 May 26;83:106012. Epub 2021 May 26.

Department of Vascular Surgery, Saitama Medical Center, Saitama Medical University, Kawagoe, Saitama, Japan. Electronic address:

Introduction: Neurofibromatosis type 1 (NF-1) or von Recklinghausen's disease, an autosomal dominant genetic disorder, is characterized by a café au lait spot and cutaneous neurofibromas. It typically involves the skin, nerves, bones, muscles, and eyes, and occasionally involves vascular complications and can lead to life-threatening hemorrhage.

Case Presentation: We present the case of a 77-year-old female with a posterior tibial artery rupture with NF-1. Read More

View Article and Full-Text PDF

Deletion of the whole NF1 gene in a three-generation family with neurofibromatosis type 1.

Neurol Sci 2021 Jun 5. Epub 2021 Jun 5.

Department of Neurology, West China Hospital, Sichuan University, Guo Xuexiang #37, Chengdu, 610041, Sichuan, China.

Background: Neurofibromatosis type 1 (NF1) is an autosomal dominant neurocutaneous disorder characterized by café-au-lait macules (CALMs), skinfold freckling, Lisch nodules, and neurofibromas. It is associated with heterozygous mutations in the neurofibromatosis type 1 (NF1) gene. Whole NF1 deletion has been described in some cases, but most cases are sporadic, and familial forms are extremely rare. Read More

View Article and Full-Text PDF

Light Drives Optic Glioma Formation in a Cancer-Predisposition Syndrome.


Cancer Discov 2021 Jun 4. Epub 2021 Jun 4.

In a model of neurofibromatosis 1 (NF1), light exposure during a critical period promoted tumorigenesis. Read More

View Article and Full-Text PDF

Mutational spectrum of NF1 gene in 24 unrelated Egyptian families with neurofibromatosis type 1.

Mol Genet Genomic Med 2021 Jun 3:e1631. Epub 2021 Jun 3.

Medical Molecular Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt.

Background: Neurofibromatosis 1 (NF1; OMIM# 162200) is a common autosomal dominant genetic disease [incidence: ~1:3500]. In 95% of cases, clinical diagnosis of the disease is based on the presence of at least two of the seven National Institute of Health diagnostic criteria. The molecular pathology underlying this disorder entails mutation in the NF1 gene. Read More

View Article and Full-Text PDF

WNT5A inhibition alters the malignant peripheral nerve sheath tumor microenvironment and enhances tumor growth.

Oncogene 2021 Jun 2. Epub 2021 Jun 2.

Division of Experimental Hematology and Cancer Biology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.

Malignant peripheral nerve sheath tumors (MPNST) are aggressive soft-tissue sarcomas that cause significant mortality in adults with neurofibromatosis type 1. We compared gene expression of growth factors in normal human nerves to MPNST and normal human Schwann cells to MPNST cell lines. We identified WNT5A as the most significantly upregulated ligand-coding gene and verified its protein expression in MPNST cell lines and tumors. Read More

View Article and Full-Text PDF

PAK1 inhibition reduces tumor size and extends the lifespan of mice in a genetically engineered mouse model of Neurofibromatosis Type 2 (NF2).

Hum Mol Genet 2021 Jun 1. Epub 2021 Jun 1.

Department of Pediatrics, Indiana University School of Medicine, Indianapolis, Indiana.

Neurofibromatosis Type II (NF2) is an autosomal dominant cancer predisposition syndrome in which germline haploinsufficiency at the NF2 gene confers a greatly increased propensity for tumor development arising from tissues of neural crest derived origin. NF2 encodes the tumor suppressor, Merlin, and its biochemical function is incompletely understood. One well established function of Merlin is as a negative regulator of group A serine/threonine p21 activated kinases (PAKs). Read More

View Article and Full-Text PDF

Current Understanding of Neurofibromatosis Type 1, 2, and Schwannomatosis.

Ryota Tamura

Int J Mol Sci 2021 May 29;22(11). Epub 2021 May 29.

Department of Neurosurgery, Kawasaki Municipal Hospital, Shinkawadori, Kanagawa, Kawasaki-ku 210-0013, Japan.

Neurofibromatosis (NF) is a neurocutaneous syndrome characterized by the development of tumors of the central or peripheral nervous system including the brain, spinal cord, organs, skin, and bones. There are three types of NF: NF1 accounting for 96% of all cases, NF2 in 3%, and schwannomatosis (SWN) in <1%. The NF1 gene is located on chromosome 17q11. Read More

View Article and Full-Text PDF

Neurofibromin Deficiency and Extracellular Matrix Cooperate to Increase Transforming Potential through FAK-Dependent Signaling.

Cancers (Basel) 2021 May 12;13(10). Epub 2021 May 12.

Department of Surgery, Oncology and Gastroenterology, Veneto Institute of Oncology IOV-IRCCS, University of Padova, 35128 Padova, Italy.

Plexiform neurofibromas (Pnfs) are benign peripheral nerve sheath tumors that are major features of the human genetic syndrome, neurofibromatosis type 1 (NF1). Pnfs are derived from Schwann cells (SCs) undergoing loss of heterozygosity (LOH) at the locus in an milieu and thus are variably lacking in the key Ras-controlling protein, neurofibromin (Nfn). As these SCs are embedded in a dense desmoplastic milieu of stromal cells and abnormal extracellular matrix (ECM), cell-cell cooperativity (CCC) and the molecular microenvironment play essential roles in Pnf progression towards a malignant peripheral nerve sheath tumor (MPNST). Read More

View Article and Full-Text PDF

RABL6A Regulates Schwann Cell Senescence in an RB1-Dependent Manner.

Int J Mol Sci 2021 May 20;22(10). Epub 2021 May 20.

The Department of Neuroscience and Pharmacology, Carver College of Medicine, University of Iowa, Iowa City, IA 52242, USA.

Schwann cells are normally quiescent, myelinating glia cells of the peripheral nervous system. Their aberrant proliferation and transformation underlie the development of benign tumors (neurofibromas) as well as deadly malignant peripheral nerve sheath tumors (MPNSTs). We discovered a new driver of MPNSTs, an oncogenic GTPase named RABL6A, that functions in part by inhibiting the RB1 tumor suppressor. Read More

View Article and Full-Text PDF

Chromosomal translocations inactivating CDKN2A support a single path for malignant peripheral nerve sheath tumor initiation.

Hum Genet 2021 May 31. Epub 2021 May 31.

Hereditary Cancer Group, Germans Trias i Pujol Research Institute (IGTP)-PMPPC, Badalona, 08916, Barcelona, Spain.

Malignant peripheral nerve sheath tumors (MPNST) are aggressive soft tissue sarcomas with poor prognosis, developing either sporadically or in persons with neurofibromatosis type 1 (NF1). Loss of CDKN2A/B is an important early event in MPNST progression. However, many reported MPNSTs exhibit partial or no inactivation of CDKN2A/B, raising the question of whether there is more than one molecular path for MPNST initiation. Read More

View Article and Full-Text PDF

Transcriptomic signature of painful human neurofibromatosis type 2 schwannomas.

Ann Clin Transl Neurol 2021 May 30. Epub 2021 May 30.

Department of Anesthesia, Critical Care, and Pain Medicine, Massachusetts General Hospital (MGH), Harvard Medical School (HMS), Boston, Massachusetts, 02114, USA.

Schwannomas are benign neoplasms that can cause gain- and loss-of-function neurological phenotypes, including severe, intractable pain. To investigate the molecular mechanisms underlying schwannoma-associated pain we compared the RNA sequencing profile of painful and non-painful schwannomas from NF2 patients. Distinct segregation of painful and non-painful tumors by gene expression patterns was observed. Read More

View Article and Full-Text PDF

Evaluation of the dimensions, morphology, and position of the mandibular condyles in individuals with neurofibromatosis 1: a case-control study.

Clin Oral Investig 2021 May 29. Epub 2021 May 29.

Department of Oral Pathology and Diagnosis, School of Dentistry, Federal University of Rio de Janeiro (UFRJ), Rio de Janeiro, Rio de Janeiro, Brazil.

Objectives: The aim of this study was to evaluate the mandibular condyles of neurofibromatosis 1 (NF1) individuals without facial plexiform neurofibroma using cone beam computed tomography images.

Materials And Methods: Eighty cone beam computed tomography scans (160 mandibular condyles) were analyzed: 40 from NF1 individuals (study group) and 40 from individuals without NF1 (control group). The anteroposterior and mediolateral dimensions, height, and volume of the mandibular condyles were measured. Read More

View Article and Full-Text PDF

Early differences in auditory processing relate to Autism Spectrum Disorder traits in infants with Neurofibromatosis Type I.

J Neurodev Disord 2021 May 28;13(1):22. Epub 2021 May 28.

Centre for Brain and Cognitive Development, Birkbeck, University of London, Henry Wellcome Building, Malet Street, London, WC1E 7HX, UK.

Background: Sensory modulation difficulties are common in children with conditions such as Autism Spectrum Disorder (ASD) and could contribute to other social and non-social symptoms. Positing a causal role for sensory processing differences requires observing atypical sensory reactivity prior to the emergence of other symptoms, which can be achieved through prospective studies.

Methods: In this longitudinal study, we examined auditory repetition suppression and change detection at 5 and 10 months in infants with and without Neurofibromatosis Type 1 (NF1), a condition associated with higher likelihood of developing ASD. Read More

View Article and Full-Text PDF

Congenital pseudarthrosis of the forearm as a single manifestation of neurofibromatosis type 1 at birth: A case report.

Clin Imaging 2021 Apr 29;78:214-216. Epub 2021 Apr 29.

Department of Radiology and Biomedical imaging, Yale University School of Medicine, 333 Cedar Street, New Haven, CT 06520, USA. Electronic address:

Congenital pseudoarthrosis of the forearm is an extremely rare condition. It is most commonly associated with neurofibromatosis type I (NF1). Patients with NF1-associated pseudoarthrosis have complex medical management and often require surgical intervention due to higher failure rates of union. Read More

View Article and Full-Text PDF

Effects of Age on White Matter Microstructure in Children With Neurofibromatosis Type 1.

J Child Neurol 2021 May 28:8830738211008736. Epub 2021 May 28.

Neurology, Stanford Hospital and Clinics, Palo Alto, CA, USA.

Children with neurofibromatosis type 1 (NF1) often report cognitive challenges, though the etiology of such remains an area of active investigation. With the advent of treatments that may affect white matter microstructure, understanding the effects of age on white matter aberrancies in NF1 becomes crucial in determining the timing of such therapeutic interventions. A cross-sectional study was performed with diffusion tensor imaging from 18 NF1 children and 26 age-matched controls. Read More

View Article and Full-Text PDF

Characterization of Two Loss-of-Function NF1 Variants in Chinese Patients and Potential Molecular Interpretations of Phenotypes.

Front Genet 2021 11;12:660592. Epub 2021 May 11.

Department of Pediatrics, Ruijin Hospital Affiliated to Shanghai Jiao Tong University, Shanghai, China.

Neurofibromatosis type 1 (NF1) is a common genetic disorder characterized by cafe'-au-lait spots, skinfold freckles, the formation of neurofibromas, skeletal dysplasia, vascular dysplasia, and an increased risk of malignant tumors. In this study, two Chinese NF1 children troubled with bone lesions or hypertension were reported. A mutation (c. Read More

View Article and Full-Text PDF