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Molecular Landscape of Resected Thymomas: Insights from Mutational Profiling

Luca Frasca1, Antonio Sarubbi1,2, Lorenzo Nibid3,4

  • 1Department of Thoracic Surgery, Fondazione Policlinico Universitario Campus Bio-Medico, Via Alvaro del Portillo, 200, 00128 Rome, Italy.

Diagnostics (Basel, Switzerland)
|February 13, 2026
PubMed

Insights

This study found PIK3CA mutations in thymomas and that high programmed death-ligand 1 (PD-L1) expression is linked to aggressive subtypes, suggesting potential biomarkers for thymic tumors.

Area of Science:

  • Oncology
  • Molecular Pathology

Background:

  • Thymomas are common anterior mediastinum tumors with limited advanced-stage treatment options.
  • The molecular profile of thymomas requires further characterization.
  • Targetable mutations and PD-L1 expression in thymomas are not well understood.

Purpose of the Study:

  • To investigate targetable mutations and PD-L1 expression in thymomas.
  • To explore the correlation between PD-L1 expression, histological subtype, and recurrence risk.
  • To assess the potential of PD-L1 as a prognostic biomarker in thymic epithelial tumors.

Main Methods:

  • Next-generation sequencing (NGS) Cancer Panel for 16 genes.
  • PD-L1 expression assessment using Tumor Proportion Score (TPS) (≥50% defined as high expressors).
  • Statistical analysis including logistic regression, Cox models, and Kaplan-Meier curves.

Main Results:

  • PIK3CA mutations were identified in 5.4% of thymomas; no other targetable mutations were found.
  • High PD-L1 expression (≥50%) was observed in 40.5% of patients and significantly associated with aggressive histological subtypes (B2/B3) (p < 0.001).
  • High PD-L1 expression strongly predicted aggressive histology (OR=15.5, p=0.001), but no significant difference in disease-free survival was observed between PD-L1 expression groups.

Conclusions:

  • PIK3CA mutations are present in thymomas, warranting investigation into molecular targeted therapies.
  • High PD-L1 expression is associated with aggressive thymoma subtypes and may serve as a prognostic biomarker.
  • Further research into molecular and predictive pathology is crucial for thymic epithelial tumors.
Keywords:
PD-L1PIK3CArecurrencethymectomythymoma

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