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Related Experiment Video

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Author Spotlight: Finding New Therapeutic Targets for Malignant Peripheral Nerve Sheath Tumor Through Genome-Scale shRNA Screens

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

Paul A Jones¹, Aaron U Bektas¹, Jeffrey J Szymanski²

¹Washington University School of Medicine.

Research Square

|November 19, 2025

Summary

This summary is machine-generated.

A new circulating tumor DNA assay accurately distinguishes malignant peripheral nerve sheath tumors in neurofibromatosis type 1 patients. This blood test detects early relapse and confirms remission, improving patient management.

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Area of Science:

Oncology
Genetics
Molecular Diagnostics

Background:

Neurofibromatosis type 1 (NF1) patients are at high risk for malignant peripheral nerve sheath tumors (MPNSTs).
Distinguishing MPNSTs from benign plexiform neurofibromas or tumor-free states is clinically challenging.
Current diagnostic methods may be invasive or lack sensitivity for early detection.

Purpose of the Study:

To develop and validate an integrated circulating tumor DNA (ctDNA) assay for differentiating MPNSTs in NF1 patients.
To assess the assay's performance against genome-wide copy number alterations (CNAs).
To identify disease-specific alterations and monitor treatment response using ctDNA.

Main Methods:

Development of a multi-variant ctDNA assay analyzing single nucleotide variants (SNVs), insertions/deletions (indels), CNAs, and structural variants (SVs).
Cross-validation of the assay in 82 participants, including NF1 patients with MPNSTs, benign plexiform neurofibromas, and healthy controls.
Comparison of ctDNA assay performance with genome-wide CNA analysis.

Main Results:

The integrated ctDNA assay achieved an Area Under the Curve (AUC) of 0.904, significantly outperforming genome-wide CNAs (AUC=0.735).
The assay detected recurrent, disease-specific driver alterations.
Early relapse was detected up to three months prior to clinical diagnosis, and early ctDNA clearance indicated durable remission.

Conclusions:

The integrated ctDNA assay is a highly accurate tool for distinguishing MPNSTs in NF1 patients.
ctDNA analysis offers potential for early relapse detection and monitoring of treatment response, including remission.
This assay represents a promising non-invasive approach for managing NF1-associated MPNSTs.