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- Title
Comparative Analysis of Comprehensive Genomic Profile in Thymomas and Recurrent Thymomas Reveals Potentially Actionable Mutations for Target Therapies.
- Authors
Lococo, Filippo; De Paolis, Elisa; Evangelista, Jessica; Dell'Amore, Andrea; Giannarelli, Diana; Chiappetta, Marco; Campanella, Annalisa; Sassorossi, Carolina; Cancellieri, Alessandra; Calabrese, Fiorella; Conca, Alessandra; Vita, Emanuele; Minucci, Angelo; Bria, Emilio; Castello, Angelo; Urbani, Andrea; Rea, Federico; Margaritora, Stefano; Scambia, Giovanni
- Abstract
Molecular profiles of thymomas and recurrent thymomas are far from being defined. Herein, we report an analysis of a comprehensive genetic profile (CGP) in a highly selected cohort of recurrent thymomas. Among a cohort of 426 thymomas, the tissue was available in 23 recurrent tumors for matching the biomolecular results obtained from primary and relapse samples. A control group composed of non-recurrent thymoma patients was selected through a propensity score match analysis. CGP was performed using the NGS Tru-SightOncology assay to evaluate TMB, MSI, and molecular alterations in 523 genes. CGP does not differ when comparing initial tumor with tumor relapse. A significantly higher frequency of cell cycle control genes alterations (100.0% vs. 57.1%, p = 0.022) is detected in patients with early recurrence (<32 months) compared to late recurrent cases. The CGPs were similar in recurrent thymomas and non-recurrent thymomas. Finally, based on NGS results, an off-label treatment or clinical trial could be potentially proposed in >50% of cases (oncogenic Tier-IIC variants). In conclusion, CGPs do not substantially differ between initial tumor vs. tumor recurrence and recurrent thymomas vs. non-recurrent thymomas. Cell cycle control gene alterations are associated with an early recurrence after thymectomy. Multiple target therapies are potentially available by performing a comprehensive CGP, suggesting that a precision medicine approach on these patients could be further explored.
- Subjects
GENETIC profile; PROPENSITY score matching; GENOMICS; CELL cycle; INDIVIDUALIZED medicine
- Publication
International Journal of Molecular Sciences, 2024, Vol 25, Issue 17, p9560
- ISSN
1661-6596
- Publication type
Article
- DOI
10.3390/ijms25179560