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November 1, 2025Neuro-OncologyOpen Access

PATH-81. DNA sequencing identifies NF1 variant classes associated with malignant peripheral nerve sheath tumor (MPNST) formation in neurofibromatosis type I

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Authors

BNBrian NaFSFarhaz ShaikhKMKanish Mirchia

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Overview

Analysis reveals NF1 variants associated with MPNST development in neurofibromatosis type 1, suggesting key biomarkers.

Key Points

  • This research examines the association of NF1 variants with malignant peripheral nerve sheath tumors in individuals with neurofibromatosis type 1.
  • Identified 220 individuals with neurofibromatosis type 1 treated at UCSF from 2015-2025.
  • Carried out DNA sequencing including whole exome sequencing and targeted assays for selected patients.
  • Collected comprehensive clinical data regarding tumor-related and non-tumor findings.
  • Found 64 cases of MPNST, a higher incidence than previously reported.
  • Identified NF1 variants: mainly nonsense, frameshift, and deletions among MPNST patients.
  • Definitive loss of function variants were significantly linked to MPNST development.

Cite This Study

Na et al. (2025) studied this question.

synapsesocial.com/papers/6925436cc0ce034ddc358644https://doi.org/10.1093/neuonc/noaf201.1033
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Also Consider

Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

  1. 1Plexiform Neurofibromas and Malignant Peripheral Nerve Sheath Tumors in Adults with Neurofibromatosis Type 1: Clinical Insights from a Large Cohort2026
  2. 2Pathogenic <i>Neurofibromatosis type 1</i> gene variants in tumors of non‐ <scp>NF1</scp> patients and role of <scp>R1276</scp>2025
  3. 3The Pathogenesis of the Neurofibroma-to-Sarcoma Transition in Neurofibromatosis Type I: From Molecular Profiles to Diagnostic Applications2025
  4. 4An Integrated Whole-Genome Sequencing and In-House Targeted Testing Strategy Enhances Comprehensive Mutation Detection in Neurofibromatosis Type 12026
  5. 5Malignant Peripheral Nerve Sheath Tumors in Neurofibromatosis Type 1 arise from Distinct Nodular Lesions: A Retrospective Imaging Analysis2025