{
  "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.",
  "abstract_shown": true,
  "affiliations": [
    "Division of Oncology, Department of Medicine, Washington University School of Medicine, St. Louis, MO USA",
    "Division of Biology and Biomedical Sciences, Washington University School of Medicine, St. Louis, MO USA",
    "Department of Radiation Oncology, Mayo Clinic, Rochester, MN USA",
    "Nemours Children’s Health, Lisa Dean Moseley Foundation Institute for Cancer and Blood Disorders, Wilmington, DE USA",
    "Department of Pathology and Immunology, Washington University School of Medicine, St. Louis, MO USA",
    "Pediatric Oncology Branch, Center for Cancer Research, National Cancer Institute, National Institutes of Health, Bethesda, MD USA",
    "Department of Immunology, Mayo Clinic, Rochester, MN USA",
    "Mayo Clinic Comprehensive Cancer Center, Rochester, MN USA",
    "Department of Computer Science and Engineering, Washington University, St. Louis, MO USA",
    "Department of Pediatrics, Washington University School of Medicine, St. Louis, MO USA",
    "Siteman Cancer Center, Washington University School of Medicine, St. Louis, MO USA"
  ],
  "article_type": "brief report",
  "arxiv": null,
  "author_total": 14,
  "authors": [
    {
      "affs": [
        0,
        1
      ],
      "name": "Paul A. Jones"
    },
    {
      "affs": [
        0
      ],
      "name": "Aaron U. Bektas"
    },
    {
      "affs": [
        2
      ],
      "name": "Jeffrey J. Szymanski"
    },
    {
      "affs": [
        3
      ],
      "name": "R. Taylor Sundby"
    },
    {
      "affs": [
        4
      ],
      "name": "John S. A. Chrisinger"
    },
    {
      "affs": [
        0
      ],
      "name": "Peter K. Harris"
    },
    {
      "affs": [
        0
      ],
      "name": "Mark I. Zoberi"
    },
    {
      "affs": [
        0
      ],
      "name": "Kara Weekley"
    },
    {
      "affs": [
        0
      ],
      "name": "Sanita Burgic"
    },
    {
      "affs": [
        0
      ],
      "name": "Stacey Chamberlain"
    },
    {
      "affs": [
        2
      ],
      "name": "Faridi Qaium"
    },
    {
      "affs": [
        5
      ],
      "name": "Jack F. Shern"
    },
    {
      "affs": [
        2,
        6,
        7,
        8
      ],
      "name": "Aadel A. Chaudhuri"
    },
    {
      "affs": [
        0,
        1,
        9,
        10
      ],
      "name": "Angela C. Hirbe"
    }
  ],
  "bibtex": "https://research.draconitic.com/paper/2wp1t4qcrfs1t.bib",
  "cited_by": 0,
  "doi": "10.1038/s41698-026-01586-9",
  "fulltext_url": "https://pmc.ncbi.nlm.nih.gov/articles/PMC13714247/",
  "id": "2wp1t4qcrfs1t",
  "issns": [
    "2397-768X"
  ],
  "landing_url": "https://doi.org/10.1038/s41698-026-01586-9",
  "language": "en",
  "licence": "CC-BY-NC-ND-4.0",
  "licence_label": "CC BY-NC-ND 4.0",
  "licence_source": "article",
  "licence_url": "https://creativecommons.org/licenses/by-nc-nd/4.0/",
  "metadata_licence": null,
  "native_subjects": [
    [
      "heading",
      "Brief Communication"
    ],
    [
      "openalex",
      "2728|Neurofibromatosis and Schwannoma Cases"
    ]
  ],
  "openalex": "W4414674043",
  "pdf_url": "https://www.nature.com/articles/s41698-026-01586-9_reference.pdf",
  "pmcid": "PMC13714247",
  "pmid": "42401714",
  "published": "2026-07-04",
  "publisher": "Nature Publishing Group",
  "ris": "https://research.draconitic.com/paper/2wp1t4qcrfs1t.ris",
  "sources": [
    {
      "first_seen": "2026-11-01T12:21:47Z",
      "native_id": "PMC13714247",
      "source": "pmc",
      "url": "https://doi.org/10.1038/s41698-026-01586-9"
    }
  ],
  "subjects": [
    {
      "field": "medicine",
      "origin": "openalex:2728|Neurofibromatosis and Schwannoma Cases",
      "subfield": "neurology"
    }
  ],
  "title": "Integrated multiclass driver ctDNA profiling enables MPNST detection and monitoring in NF1 patients",
  "title_text": "Integrated multiclass driver ctDNA profiling enables MPNST detection and monitoring in NF1 patients",
  "type": "peer-reviewed",
  "updated_at": "2026-11-01T12:21:47Z",
  "url": "https://research.draconitic.com/paper/2wp1t4qcrfs1t",
  "venue": "NPJ Precision Oncology",
  "versions": []
}