ArticleArchives of medical science : AMS2024
Genomic profiling of thymoma using a targeted high-throughput approach.
Article in Archives of medical science : AMS, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers, 2 of them syntheses that pooled it.
What it found
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Who cites it
7 citing papers in PubMed, 2 syntheses or guidelines pooled it.
- Genomic landscape and subgroup stratification of thymic epithelial tumors: a systematic meta-analysis of next-generation sequencing data.Frontiers in oncology · 2026Pooled it
- Molecular profiling of rare thymoma using next-generation sequencing: meta-analysis.Radiology and oncology · 2023Pooled it
- Advancing Precision Medicine: The Role of Genetic Testing and Sequencing Technologies in Identifying Biological Markers for Rare Cancers.Cancer medicine · 2025Review
- DNA extraction from long-term preserved formalin-fixed paraffin-embedded samples of thymic epithelial tumours - a performance comparison of three commercial kits.Contemporary oncology (Poznan, Poland) · 2025Article
- Heterogeneity in biomarkers, mitogenome and genetic disorders of the Arab population with special emphasis on large-scale whole-exome sequencing.Archives of medical science : AMS · 2023Article
- Targeted Next-Generation Sequencing of Thymic Epithelial Tumours Revealed Pathogenic Variants inCancers · 2022Article
- Correlation of genomic alterations and PD-L1 expression in thymoma.Journal of thoracic disease · 2020Review
Corrections and comments
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Authors and funding
7 authors.
Funding
No grant is acknowledged in the PubMed record.
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, 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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Registered trials
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