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

npj Precision Oncology 2026 Open access

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Authors: Paul A. Jones, Aaron U. Bektas, Jeffrey J. Szymanski, R. Taylor Sundby, John S.A. Chrisinger, Peter K. W. Harris, Mark I. Zoberi, Kara Weekley, Sanita Burgic, Stacey Chamberlain, Faridi Qaium, Jack F. Shern
+2 more Aadel A. Chaudhuri, Angela C. Hirbe
DOI: 10.1038/s41698-026-01586-9
Cited by: 0
References: 19

Abstract

We developed and cross-validated an integrated circulating tumor DNA assay incorporating SNVs, indels, CNAs, and SVs to distinguish neurofibromatosis type 1 patients with malignant peripheral nerve sheath tumors from those with benign plexiform neurofibromas or tumor-free controls. Among 82 participants, the assay achieved an AUC of 0.904, compared with 0.735 for genome-wide CNAs. We also detected recurrent disease-specific driver alterations, relapse up to three months before diagnosis, and early clearance consistent with durable remission.

Fields of Study & Subjects

Cancer Genomics and Diagnostics Pancreatic and Hepatic Oncology Research Lung Cancer Treatments and Mutations

Publication details

Journal / source
npj Precision Oncology
Publisher
Springer Science and Business Media LLC
Volume
10
Issue
1
Publication date
4 July 2026
Language
EN