WCLC 2025 - Posters & ePosters-EP.14.20 Whole-Exome Sequencing Study of Thymic Epithelial Tumors

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This study addresses the lack of effective treatments for unresectable metastatic and recurrent thymic epithelial tumors (TETs), which often coexist with comorbidities linked to paraneoplastic syndromes. Leveraging advances in whole-exome sequencing (WES), researchers analyzed tumor genetics from 24 TET patients (18 thymic carcinomas, 6 thymomas) treated between 2019 and 2024 at Jiangsu Province Hospital. <br /><br />WES revealed that RHPN2 was the most frequently mutated gene, found in 45.8% of cases. Tumors harboring RHPN2 mutations exhibited increased activation of oncogenic pathways including Notch and WNT signaling, and a tendency toward poorer patient survival. Additionally, 21 focal copy number variation regions linked to various cancers were identified. Mutated genes were enriched in classical tumorigenic pathways such as cAMP, Notch, PI3K-Akt, and WNT signaling, as well as hormone-related pathways. Immune-related pathways involving cytokine receptors and cytokines were also altered, which may underpin the high incidence of paraneoplastic syndromes in TET patients.<br /><br />The findings suggest RHPN2 as a potentially valuable gene involved in TET pathogenesis and highlight multiple molecular factors relevant to tumor development and associated syndromes, spanning tumor signaling, hormonal influence, and immune modulation. This comprehensive genetic profiling enhances understanding of TET biology and could guide future research and therapeutic development efforts.

Asset Subtitle

Wen Gao

Meta Tag

Speaker Wen Gao

Topic Mesothelioma, Thymoma, and Other Thoracic Tumors

Keywords

Thymic epithelial tumors

RHPN2 mutation

Whole-exome sequencing

Notch signaling pathway

WNT signaling pathway

Paraneoplastic syndromes

Copy number variation

Tumorigenic pathways

Immune-related pathways

Thymic carcinoma