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

## TL;DR

A new blood test can detect and monitor cancer in patients with a genetic condition called neurofibromatosis type 1.

## Contribution

An integrated ctDNA assay combining multiple genomic features for MPNST detection in NF1 patients.

## Key findings

- The assay achieved an AUC of 0.904 in distinguishing MPNST from benign tumors and controls.
- Recurrent driver alterations and early signs of relapse were detected up to three months before diagnosis.
- Early clearance of ctDNA was observed in patients with durable remission.

## 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.