Cell-Free DNA Fragmentomics for Early Detection of Malignant Transformation in NF1 Patients Harboring Plexiform Neurofibromas

This study suggests that fragmentomic analysis of cell-free DNA can accurately risk-stratify NF1 patients with plexiform neurofibromas. Cell-free DNA fragmentomics outperformed our previously published copy number alteration method for distinguishing closely related patient subgroups with different malignancy risks. Atypical neurofibroma patients with cell-free DNA fragmentomic scores suggestive of MPNST were deemed clinically very high-risk for malignant transformation.