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Published on: April 11, 2016
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Genomic profiling of thymoma using a targeted high-throughput approach
Jelena Peric1, Natalija Samaradzic2, Vesna Skodric Trifunovic2,3
1Institute of Molecular Genetics and Genetic Engineering, University of Belgrade, Belgrade, Serbia.
Archives of Medical Science : AMS
|July 25, 2024
Summary
This study identified somatic variants in thymoma, revealing frequent mutations in APC, ATM, ERBB4, and SMAD4. SMAD4 gene variants were linked to shorter survival in thymoma patients, advancing understanding of thymoma molecular pathology.
Area of Science:
- Oncology
- Genetics
- Molecular Pathology
Background:
- Thymomas and thymic carcinoma (TC) are common but poorly understood thymus neoplasms.
- Next-generation sequencing (NGS) offers new insights into their molecular pathology.
Purpose of the Study:
- To investigate somatic variants in thymoma using NGS.
- To identify frequently mutated genes and their clinical significance in thymoma.
Main Methods:
- Genomic DNA from 35 thymoma tumors was analyzed using the TruSeq Amplicon Cancer Panel (TSACP).
- Somatic variants were identified and compared to healthy controls analyzed by TSACP and exome sequencing.
Main Results:
- 4447 variants were detected, with 2906 in coding regions.
- APC, ATM, ERBB4, and SMAD4 showed over 100 protein-changing variants.
- SMAD4, APC, ATM, PTEN, KDR, and TP53 were mutated in over 70% of cases.
- 168 recurrent variants were found, 15 pathogenic.
- SMAD4 variants predicted shorter overall survival in thymoma patients.
Conclusions:
- Frequently mutated genes (EGFR, ATM, TP53 pathways) regulate key cellular processes.
- These findings enhance the understanding of thymoma molecular pathogenesis.
