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Peer-reviewedCC BY-NC-ND 4.0NPJ Precision Oncology

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

  • Paul A. Jones1,2
  • Aaron U. Bektas1
  • Jeffrey J. Szymanski3
  • R. Taylor Sundby4
  • John S. A. Chrisinger5
  • Peter K. Harris1
  • Mark I. Zoberi1
  • Kara Weekley1
  • Sanita Burgic1
  • Stacey Chamberlain1
  • Faridi Qaium3
  • Jack F. Shern6
2 more authors
  • Aadel A. Chaudhuri3,7,8,9
  • Angela C. Hirbe1,2,10,11
11 affiliations
  1. 1Division of Oncology, Department of Medicine, Washington University School of Medicine, St. Louis, MO USA
  2. 2Division of Biology and Biomedical Sciences, Washington University School of Medicine, St. Louis, MO USA
  3. 3Department of Radiation Oncology, Mayo Clinic, Rochester, MN USA
  4. 4Nemours Children’s Health, Lisa Dean Moseley Foundation Institute for Cancer and Blood Disorders, Wilmington, DE USA
  5. 5Department of Pathology and Immunology, Washington University School of Medicine, St. Louis, MO USA
  6. 6Pediatric Oncology Branch, Center for Cancer Research, National Cancer Institute, National Institutes of Health, Bethesda, MD USA
  7. 7Department of Immunology, Mayo Clinic, Rochester, MN USA
  8. 8Mayo Clinic Comprehensive Cancer Center, Rochester, MN USA
  9. 9Department of Computer Science and Engineering, Washington University, St. Louis, MO USA
  10. 10Department of Pediatrics, Washington University School of Medicine, St. Louis, MO USA
  11. 11Siteman Cancer Center, Washington University School of Medicine, St. Louis, MO USA
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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.

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Cite

BibTeXRIS
BibTeX
@article{jones2026integrated,
  title = {{Integrated multiclass driver ctDNA profiling enables MPNST detection and monitoring in NF1 patients}},
  author = {Paul A. Jones and Aaron U. Bektas and Jeffrey J. Szymanski and R. Taylor Sundby and John S. A. Chrisinger and Peter K. Harris and Mark I. Zoberi and Kara Weekley and Sanita Burgic and Stacey Chamberlain and Faridi Qaium and Jack F. Shern and Aadel A. Chaudhuri and Angela C. Hirbe},
  journal = {NPJ Precision Oncology},
  year = {2026},
  month = jul,
  doi = {10.1038/s41698-026-01586-9},
  url = {https://doi.org/10.1038/s41698-026-01586-9},
  note = {CC BY-NC-ND 4.0},
}
RIS
TY  - JOUR
TI  - Integrated multiclass driver ctDNA profiling enables MPNST detection and monitoring in NF1 patients
AU  - Paul A. Jones
AU  - Aaron U. Bektas
AU  - Jeffrey J. Szymanski
AU  - R. Taylor Sundby
AU  - John S. A. Chrisinger
AU  - Peter K. Harris
AU  - Mark I. Zoberi
AU  - Kara Weekley
AU  - Sanita Burgic
AU  - Stacey Chamberlain
AU  - Faridi Qaium
AU  - Jack F. Shern
AU  - Aadel A. Chaudhuri
AU  - Angela C. Hirbe
PY  - 2026
DA  - 2026/07/04
JO  - NPJ Precision Oncology
DO  - 10.1038/s41698-026-01586-9
UR  - https://doi.org/10.1038/s41698-026-01586-9
AB  - 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.
SN  - 2397-768X
ER  -