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Genomic profiling of thymoma using a targeted high-throughput approach. | LitMetric

AI Article Synopsis

  • - Thymomas and thymic carcinoma are the primary tumors found in the thymus, but they are not well understood. Recent advances in next-generation sequencing (NGS) have shed light on their molecular pathology.
  • - In a study of 35 thymoma patients, researchers identified a total of 4,447 genetic variants, including those in key cancer-related genes, with significant findings indicating potential implications for patient survival.
  • - The analysis revealed frequent mutations in genes associated with critical cellular processes, enhancing the understanding of thymoma's molecular pathogenesis and potential future therapeutic targets.

Article Abstract

Introduction: Thymomas and thymic carcinoma (TC) are the most common neoplasms localised in the thymus. These diseases are poorly understood, but progress made in next-generation sequencing (NGS) technology has provided novel data on their molecular pathology.

Material And Methods: Genomic DNA was isolated from formalin-fixed paraffin-embedded tumour tissue. We investigated somatic variants in 35 thymoma patients using amplicon-based TruSeq Amplicon Cancer Panel (TSACP) that covers 48 cancer related genes. We also analysed three samples from healthy individuals by TSACP platform and 32 healthy controls using exome sequencing.

Results: The total number of detected variants was 4447, out of which 2906 were in the coding region (median per patient 83, range: 2-300) and 1541 were in the non-coding area (median per patient 44, range: 0-172). We identified four genes, , , , and , having more than 100 protein-changing variants. Additionally, more than 70% of the analysed cases harboured protein-changing variants in , and . Moreover, this study revealed 168 recurrent variants, out of which 15 were shown to be pathogenic. Comparison to controls revealed that the variants we reported in this study were somatic thymoma-specific variants. Additionally, we found that the presence of variants in 4 gene predicted shorter overall survival in thymoma patients.

Conclusions: The most frequently mutated genes in thymoma samples analysed in this study belong to the EGFR, ATM, and TP53 signalling pathways, regulating cell cycle check points, gene expression, and apoptosis. The results of our study complement the knowledge of thymoma molecular pathogenesis.

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Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC11264071PMC
http://dx.doi.org/10.5114/aoms.2020.96537DOI Listing

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