Genomic profiling and pathological assessment of malignant peripheral nerve sheath tumors.

ABSTRACT:

Purpose

Addressing the significant clinical challenges associated with managing malignant peripheral nerve sheath tumor (MPNST), this study focuses on the difficulties encountered in achieving accurate pathological diagnosis and the exploration of effective treatment options through genomic analysis.

Methods

The study included 20 patients with an initial pathological diagnosis of MPNST. Next-generation sequencing-based genomic analysis was conducted to assess the molecular features of MPNST, specifically looking for somatic mutations and actionable mutations.

Results

The genomic analysis resulted in diagnostic refinement or reassignment for 20% of the cases. Somatic mutations were predominantly enriched in the RTK/RAS pathway, accounting for 64.7% of the findings. Add

SUBMITTER: Cui Q 

PROVIDER: S-EPMC12078426 | biostudies-literature | 2025 May

REPOSITORIES: biostudies-literature