The diagnosis and management of neurofibromatosis type 1

KI Ly, JO Blakeley - Medical Clinics, 2019 - medical.theclinics.com
Neurofibromatosis (NF) type 1 (NF1), NF type 2 (NF2), and schwannomatosis constitute a
group of autosomal dominant tumor suppressor syndromes that predispose to benign and …

[HTML][HTML] Neurofibromatosis 1

JM Friedman - 2022 - europepmc.org
Neurofibromatosis 1 (NF1) is a multisystem disorder characterized by multiple café au lait
macules, intertriginous freckling, multiple cutaneous neurofibromas, and learning disability …

Current status and recommendations for imaging in neurofibromatosis type 1, neurofibromatosis type 2, and schwannomatosis

S Ahlawat, JO Blakeley, S Langmead, AJ Belzberg… - Skeletal radiology, 2020 - Springer
Abstract Neurofibromatosis type 1 (NF1), neurofibromatosis type 2 (NF2), and
schwannomatosis (SWN) are three clinically distinct tumor predisposition syndromes with a …

Update on pediatric cancer surveillance recommendations for patients with neurofibromatosis type 1, noonan syndrome, CBL syndrome, Costello syndrome, and …

MR Perrino, A Das, SR Scollon, SG Mitchell… - Clinical Cancer …, 2024 - aacrjournals.org
Abstract Neurofibromatosis type 1 (NF1), Noonan syndrome, and related syndromes,
grouped as RASopathies, result from dysregulation of the RAS-MAPK pathway and …

Secondary prevention in hereditary breast and/or ovarian cancer syndromes other than BRCA

C Piombino, L Cortesi, M Lambertini… - Journal of …, 2020 - Wiley Online Library
BRCA1‐and BRCA2‐associated hereditary breast and ovarian cancer syndromes are
among the best‐known and most extensively studied hereditary cancer syndromes …

Management of neurofibromatosis type 1-associated plexiform neurofibromas

MJ Fisher, JO Blakeley, BD Weiss, E Dombi… - Neuro …, 2022 - academic.oup.com
Plexiform Neurofibromas (PN) are a common manifestation of the genetic disorder
neurofibromatosis type 1 (NF1). These benign nerve sheath tumors often cause significant …

Current and new frontiers in hereditary cancer surveillance: Opportunities for liquid biopsy

KM Farncombe, D Wong, ML Norman… - The American Journal of …, 2023 - cell.com
At least 5% of cancer diagnoses are attributed to a causal pathogenic or likely pathogenic
germline genetic variant (hereditary cancer syndrome—HCS). These individuals are …

Genetics of human malignant peripheral nerve sheath tumors

A Pemov, H Li, W Presley, MR Wallace… - Neuro-Oncology …, 2020 - academic.oup.com
Malignant peripheral nerve sheath tumors (MPNSTs) are heterogeneous, highly aggressive
tumors with no widely effective treatment other than surgery. Genomic architecture of …

Incidence and prevalence of neurofibromatosis type 1 and 2: a systematic review and meta-analysis

TSJ Lee, M Chopra, RH Kim, PC Parkin… - Orphanet Journal of …, 2023 - Springer
Objective To obtain updated estimates of the incidence and prevalence of neurofibromatosis
type 1 (NF1) and type 2 (NF2). Study design We conducted a systematic search of NF1 and …

Imaging biomarkers for malignant peripheral nerve sheath tumors in neurofibromatosis type 1

S Ahlawat, JO Blakeley, FJ Rodriguez, LM Fayad - Neurology, 2019 - AAN Enterprises
Objective To determine the utility of quantitative metrics obtained from fMRI using diffusion-
weighted imaging (DWI)/apparent diffusion coefficient (ADC) mapping compared with …