Neoplasms Associated with Germline and Somatic NF1 Gene Mutations

S Patil, RS Chamberlain - The oncologist, 2012 - academic.oup.com
Abstract Learning Objectives After completing this course, the reader will be able to:
Describe phenotypic and clinical features associated with neurofibromatosis 1. Identify …

Comparison of cancer prevalence in patients with neurofibromatosis type 1 at an academic cancer center vs in the general population from 1985 to 2020

JP Landry, KL Schertz, YJ Chiang, AD Bhalla… - JAMA Network …, 2021 - jamanetwork.com
Importance Neurofibromatosis type 1 (NF1) is a complex genetic disorder that is associated
with not only neurofibromas, but also an increased susceptibility to other neoplasms …

Brainstem gliomas

A Ramos, A Hilario, A Lagares, E Salvador… - Seminars in Ultrasound …, 2013 - Elsevier
Historically, brainstem gliomas have been considered as a single entity. Since the
introduction of magnetic resonance (MR) imaging in the late 1980s, these tumors are now …

Genotype-Phenotype Correlations in Neurofibromatosis Type 1: Identification of Novel and Recurrent NF1 Gene Variants and Correlations with Neurocognitive …

F Napolitano, M Dell'Aquila, C Terracciano… - Genes, 2022 - mdpi.com
Neurofibromatosis type 1 (NF1) is one of the most common genetic tumor predisposition
syndrome, caused by mutations in the NF1. To date, few genotype-phenotype correlations …

Neurofibromatosis type 1 and malignancy in childhood

A Varan, H Şen, B Aydın, B Yalçın, T Kutluk… - Clinical …, 2016 - Wiley Online Library
Neurofibromatosis type 1 (NF1) is an autosomal dominant hereditary neurocutaneous
syndrome characterized by multi‐system involvement and an increased incidence of both …

Malignant peripheral nerve sheath tumors (MPNST): a SEER analysis of incidence across the age spectrum and therapeutic interventions in the pediatric population

JE Bates, CR Peterson, S Dhakal… - Pediatric blood & …, 2014 - Wiley Online Library
Background Malignant peripheral nerve sheath tumors (MPNST) are very rare in the general
population and challenging to treat. A paucity of data exists regarding the incidence of …

Epilepsy surgery in neurofibromatosis type 1

C Barba, T Jacques, P Kahane, T Polster, J Isnard… - Epilepsy research, 2013 - Elsevier
Epilepsy is relatively uncommon in patients with Neurofibromatosis Type 1 (NF1) and
seizures are usually well controlled with antiepileptic treatment. However …

Optic pathway glioma in children with neurofibromatosis type 1: a multidisciplinary entity, posing dilemmas in diagnosis and management multidisciplinary …

LN Lohkamp, P Parkin, A Puran, UK Bartels… - Frontiers in …, 2022 - frontiersin.org
Introduction Neurofibromatosis type 1 (NF1) has an incidence of 1 in 2,000 to 3,000
individuals and in 15% is associated with optic pathway glioma (OPG). Given the variability …

Mutation spectrum of the NF1 gene and genotype–phenotype correlations in Turkish patients: Seventeen novel pathogenic variants

AE Solmaz, E Isik, T Atik, F Ozkinay, H Onay - Clinical Neurology and …, 2021 - Elsevier
Objective Neurofibromatosis type 1 is one of the most common autosomal dominant
diseases caused by heterozygous mutation in the NF1 gene. Wide spectrum of NF1-related …

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

Y Nishida, K Ikuta, A Natsume, N Ishihara… - Scientific reports, 2021 - nature.com
Abstract 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 …