Integrated multiclass driver ctDNA profiling enables MPNST detection and monitoring in NF1 patients.

Authors

Paul A Jones, Aaron U Bektas, Jeffrey J Szymanski, R Taylor Sundby, John S A Chrisinger, Peter K Harris, Mark I Zoberi, Kara Weekley, Sanita Burgic, Stacey Chamberlain, Faridi Qaium, Jack F Shern, Aadel A Chaudhuri, Angela C Hirbe

Published in

NPJ precision oncology. Jul 04, 2026. Epub Jul 04, 2026.

Abstract

We developed and internally cross-validated an integrated circulating tumor DNA assay incorporating single nucleotide variants (SNVs), insertions/deletions (indels), copy number alterations (CNAs), and structural variants (SVs) to distinguish neurofibromatosis type 1 patients with malignant peripheral nerve sheath tumors (MPNST) from those with benign plexiform neurofibromas and tumor-free controls. Among 82 participants, the assay achieved an AUC of 0.917 versus 0.737 for off-target genome-wide CNA analysis. We detected disease-specific alterations, relapse eighty days before diagnosis, and molecular clearance consistent with remission.

PMID:
42401714
Bibliographic data and abstract were imported from PubMed on 05 Jul 2026.

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