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<p>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.</p>

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

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2026年7月4日

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  • 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

摘要

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.