R Taylor Sundby, Jeffrey J Szymanski, Alexander Pan, Paul A Jones, Sana Z Mahmood, Olivia H Reid, Divya Srihari, Amy E Armstrong, Stacey Chamberlain, Sanita Burgic, Kara Weekley, Béga Murray, Sneh Patel, Andrea N Lucas, Margaret Fagan, Anne Dufek, Christian F Meyer, Natalie B Collins, Brian A Van Tine, Eva Dombi, Andrea M Gross, AeRang Kim, John S A Chrisinger, Carina A Dehner, Brigitte C Widemann, Angela C Hirbe, Aadel A Chaudhuri, Jack F Shern
Early detection of neurofibromatosis type 1 (NF1) associated peripheral nerve sheath tumors (PNST) informs clinical decision-making, potentially averting deadly outcomes. Here, we describe a cell-free DNA (cfDNA) fragmentomic approach which distinguishes non-malignant, pre-malignant and malignant forms of NF1 PNST. Using plasma samples from a novel cohort of 101 NF1 patients and 21 healthy controls, we validated that our previous cfDNA copy number alteration (CNA)-based approach identifies malignant peripheral nerve sheath tumor (MPNST) but cannot distinguish among benign and premalignant states...
January 19, 2024: medRxiv