NF1 is a genetic disorder that currently affects approximately 100,000 children and adults in the United States.2,3Patients with NF1 have approximately a 30-50% lifetime risk of developing plexiform neurofibromas, or PNs, which are ...
deletions.NF1microdeletion patients also have an increased risk of malignant peripheral nerve sheath tumours (MPNSTs); their lifetime MPNST risk is 16–26%, rather higher than that of NF1 patients with intragenicNF1mutations (8–13%).NF1microdeletion patients, therefore, represent a high-risk ...