Molecular profiling of rare thymoma using Next-Generation Sequencing: Meta-analysis


  • Jelena Kostic Peric Institute for molecular genetics and genetic engineering
  • Andja Cirkovic
  • Sanja Srzentic-Drazilov
  • Natalija Samardzic
  • Vesna Skodric Trifunovic
  • Dragana Jovanovic
  • Sonja Pavlovic


Background. Thymomas belong to rare tumors giving rise to thymic epithelial tissue. There is a classification of several forms of thymoma: A, AB, B1, B2, B3, and thymic carcinoma (TC). In this meta-analysis study, we have focused on thymoma using articles based on the disease's next-generation sequencing (NGS) genomic profiling.

Materials and methods. We conducted a systematic review and meta-analysis of the prevalence of studies that evaluated the frequency of the genes in less aggressive forms of the disease. Studies published before 12th October 2021 were identified through PubMed, WoS, and SCOPUS databases. Two reviewers have searched for the bases and selected the articles for the final analysis, based on well-defined exclusion and inclusion criteria.

Results. Finally, 10 publications were included in the qualitative as well as in quantitative analysis. Three genes HRAS, GTF2I, and TP53 emerged as disease-significant in the observed studies. The Odds Ratio for all three extracted genes HRAS (OR=1.10, CI [1.07, 1.13], p<0.00001), GTF2I (OR=1.56, [1.49, 1.64], p<0.00001), and TP53 (OR=1.07, CI [1.04, 1.10], p<0.00001).

Conclusions. According to obtained data, we noticed that the GTF2I gene exhibit a significant prevalence in the cohort of observed thymoma patients. Moreover, analysing published articles NGS has suggested HRAS, GTF2I, and TP53 genes as the most frequently mutated genes in thymoma that have pathogenic single nucleotide variants (SNV) and Insertion/Deletion (InDel). which contribute to disease development and progression. These variants could be valuable biomarkers and target points specific for thymoma.




How to Cite

Kostic Peric, J., Andja Cirkovic, Sanja Srzentic-Drazilov, Natalija Samardzic, Vesna Skodric Trifunovic, Dragana Jovanovic, & Sonja Pavlovic. (2023). Molecular profiling of rare thymoma using Next-Generation Sequencing: Meta-analysis. Radiology and Oncology, 57(1), 12–19. Retrieved from