Management of neurofibromatosis type 1-associated plexiform neurofibromas.

Plexiform Neurofibromas (PN) are a common manifestation of the genetic disorder neurofibromatosis type 1 (NF1). These benign nerve sheath tumors often cause significant morbidity, with treatment options limited historically to surgery. There have been tremendous advances over the past two decades in our understanding of PN, and the recent regulatory approvals of the MEK inhibitor selumetinib are reshaping the landscape for PN management.

Imaging Evaluation of Plexiform Neurofibromas in Neurofibromatosis Type 1: A Survey-Based Assessment.

Objective: To assess imaging utilization practices across clinical specialists in neurofibromatosis type 1 (NF1) for the evaluation of symptomatic and asymptomatic children and adults with or without plexiform neurofibromas (PN).

Methods: An institutional review board-exempt survey was administered to medical practitioners caring for individuals with NF1 at the Response Evaluation in Neurofibromatosis and Schwannomatosis (REiNS) meeting in September 2019. The survey included questions on respondent demographic data (9 questions), type of imaging obtained for asymptomatic (4 questions) and symptomatic (4 questions) people with and without PN, and utilization of diffusion-weighted imaging (2 questions).

The effect of pregnancy on growth-dynamics of neurofibromas in Neurofibromatosis type 1.

Introduction: Patients with Neurofibromatosis type 1 (NF1) develop plexiform neurofibromas (PNF) and cutaneous neurofibromas. These tumors are a major cause of the patient's morbidity and mortality. An influence of estrogen and progesterone on tumor growth has been suggested but reports on growth or malignant transformation of tumors during pregnancy remain anecdotal.

Combining Direct 3D Volume Rendering and Magnetic Particle Imaging to Advance Radiation-Free Real-Time 3D Guidance of Vascular Interventions.

Purpose: Magnetic particle imaging (MPI) is a novel tomographic radiation-free imaging technique that combines high spatial resolution and real-time capabilities, making it a promising tool to guide vascular interventions. Immediate availability of 3D image data is a major advantage over the presently used digital subtraction angiography (DSA), but new methods for real-time image analysis and visualization are also required to take full advantage of the MPI properties. This laboratory study illustrates respective techniques by means of three different patient-specific 3D vascular flow models.

Manifestations and Treatment of Adult-onset Symptomatic Optic Pathway Glioma in Neurofibromatosis Type 1.

This report describes the diagnosis and treatment of a 27-year-old patient with neurofibromatosis 1 (NF1) and late progression of a pre-existing optic pathway glioma (OPG) that caused significant reduction in vision. OPG is one of the diagnostic criteria for establishing the diagnosis of NF1. Most common findings of NF1 are café-au-lait spots, axillary and inguinal freckling of the skin, iris hamartoma (Lisch nodules), and tumors of the central nervous system and peripheral nerves.

Current whole-body MRI applications in the neurofibromatoses: NF1, NF2, and schwannomatosis.

Objectives: The Response Evaluation in Neurofibromatosis and Schwannomatosis (REiNS) International Collaboration Whole-Body MRI (WB-MRI) Working Group reviewed the existing literature on WB-MRI, an emerging technology for assessing disease in patients with neurofibromatosis type 1 (NF1), neurofibromatosis type 2 (NF2), and schwannomatosis (SWN), to recommend optimal image acquisition and analysis methods to enable WB-MRI as an endpoint in NF clinical trials.

Methods: A systematic process was used to review all published data about WB-MRI in NF syndromes to assess diagnostic accuracy, feasibility and reproducibility, and data about specific techniques for assessment of tumor burden, characterization of neoplasms, and response to therapy.

Results: WB-MRI at 1.