Integrated Multiclass Driver ctDNA Profiling Enables MPNST Detection and Monitoring in NF1 Patients

  1. Paul A. Jones
  2. Aaron U. Bektas
  3. Jeffrey J. Szymanski
  4. R. Taylor Sundby
  5. John S.A. Chrisinger
  6. Peter K. Harris
  7. Mark I. Zoberi
  8. Kara Weekley
  9. Sanita Burgic
  10. Stacey Chamberlain
  11. Faridi Qaium
  12. Jack F. Shern
  13. Aadel A. Chaudhuri
  14. Angela C. Hirbe
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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.

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