A single-center case study series assessing the effect of selumetinib use in patients with neurofibromatosis-related plexiform neurofibromas.

ABSTRACT:

Background

Neurofibromatosis type 1 (NF1) is a common genetic disorder of phenotypic variability with age-dependent penetrance. This study describes the diagnosis, clinical characterization, management, and outcomes of a large patient cohort with plexiform neurofibroma (PN) treated with selumetinib in a real-world clinical setting.

Methods

This single-center observational study consecutively enrolled patients with NF1-PN treated with selumetinib from April 2018 to 2023. Data on clinical features, tumor types and locations, and results from genetic tests were recorded at baseline; details of disease management with selumetinib and surgical intervention and disease evolution including imaging data and evaluations of pain and function were documented.

Results

Overall, 54

SUBMITTER: Passos J 

PROVIDER: S-EPMC11600336 | biostudies-literature | 2024 Jan-Dec

REPOSITORIES: biostudies-literature