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Characteristics of genomic mutations and signaling pathway alterations in thymic epithelial tumors
Weilin Yang1, Sai Chen2, Xinxin Cheng1
1Department of Cardiothoracic Surgery of East Division, the First Affiliated Hospital, Sun Yat-sen University, Guangzhou, China.
Background:
To elucidate the mechanisms of thymic epithelial tumor (TET) canceration by characterizing genomic mutations and signaling pathway alterations.
Methods:
Primary tumor and blood samples were collected from 21 patients diagnosed with TETs (thymoma and thymic cancer), 15 of whom were screened by nucleic acid extraction and whole exon sequencing. Bioinformatics was used to comprehensively analyze the sequencing data for these samples, including gene mutation information and the difference of tumor mutation burden (TMB) between thymoma and thymic carcinoma groups. We performed signaling pathway and functional enrichment analysis using the WebGestalt 2017 toolkit.
Results:
ZNF429 (36%) was the gene with the highest mutation frequency in thymic carcinoma. Mutations in BAP1 (14%), ABI1 (7%), BCL9L (7%), and CHEK2 (7%) were exclusively detected in thymic carcinoma, whereas ZNF721 mutations (14%) and PABPC1 (14%) were found exclusively in thymoma. The mean TMB values for thymic carcinoma and thymoma were 0.722 and 0.663 mutations per megabase (Mb), respectively, and these differences were not statistically significant. The ErbB signaling pathway was enriched in the thymoma and intersection groups, and pathways of central carbon metabolism in cancer, longevity regulating and MAPK signaling were only found in the thymoma group, while pathways in cancer (hsa05200) was found in the thymoma and thymic carcinoma groups.
Conclusions:
Multiple differences in somatic genes and pathways have been identified. Our findings provide insights into differences between thymoma and thymic carcinoma that could aid in designing personalized clinical therapeutic strategies.
Insights
Genomic analysis reveals distinct mutations and signaling pathways in thymic epithelial tumors (TETs). These findings offer insights into thymoma and thymic carcinoma differences for personalized cancer therapies.
Area of Science:
- Oncology and Molecular Biology
- Genomic Medicine
Background:
- Thymic epithelial tumors (TETs) encompass thymoma and thymic carcinoma, requiring deeper understanding of their molecular underpinnings.
- Elucidating the genomic landscape and signaling pathways is crucial for understanding TET canceration mechanisms.
Purpose of the Study:
- To characterize genomic mutations and signaling pathway alterations in thymic epithelial tumors.
- To identify molecular differences between thymoma and thymic carcinoma.
Main Methods:
- Whole exome sequencing and bioinformatics analysis of primary tumor and blood samples from 21 TET patients.
- Comprehensive analysis of gene mutation profiles and tumor mutation burden (TMB) differences.
- Signaling pathway and functional enrichment analysis using the WebGestalt 2017 toolkit.
Main Results:
- Distinct somatic gene mutations were identified, with ZNF429 highly mutated in thymic carcinoma, and BAP1, ABI1, BCL9L, CHEK2 exclusively in thymic carcinoma.
- ZNF721 and PABPC1 mutations were exclusively found in thymoma.
- While TMB did not significantly differ, enriched signaling pathways included ErbB in thymoma and intersection groups, and specific pathways like MAPK and pathways in cancer (hsa05200) were differentially represented.
Conclusions:
- Significant differences in somatic genes and signaling pathways between thymoma and thymic carcinoma were identified.
- These molecular distinctions provide a foundation for developing personalized therapeutic strategies for TET patients.
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