What type of study is this?

This is a Cross-Sectional Study study (also classified as: Experimental Study).

October 2, 2025Open Access

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

PJPaul A. JonesWashington University in St. Louis ABAaron U. BektasWashington University in St. Louis JSJeffrey J. SzymanskiMayo Clinic

Key Points

The ctdna assay achieved an AUC of 0.904, indicating high accuracy in detecting malignant tumors.
Among 82 participants, early detection of relapse occurred up to three months before traditional diagnosis methods.
The assay successfully identified disease-specific driver alterations, enhancing the understanding of tumor dynamics.
These findings highlight the potential for improved clinical management and monitoring of NF1 patients with MPNST.

Abstract

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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