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Meta-Analysis
. 2023 Mar 22;57(1):12-19.
doi: 10.2478/raon-2023-0013. eCollection 2023 Mar 1.

Molecular profiling of rare thymoma using next-generation sequencing: meta-analysis

Jelena Kostic Peric  1 , Andja Cirkovic  2 , Sanja Srzentic Drazilov  1 , Natalija Samardzic  3 , Vesna Skodric Trifunovic  3   4 , Dragana Jovanovic  5 , Sonja Pavlovic  1
Affiliations
Meta-Analysis

Molecular profiling of rare thymoma using next-generation sequencing: meta-analysis

Jelena Kostic Peric et al. Radiol Oncol. .

Abstract

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, thymic carcinoma (TC) and thymic neuroendocrine thymoma. 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 discovered the genes and variants occurring in the less aggressive forms of the thymic epithelial tumors. Studies published before 12th December 2022 were identified through PubMed, Web of Science (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, 12 publications were included in the qualitative as well as quantitative analysis. The three genes, GTF2I, TP53, and HRAS, emerged as disease-significant in the observed studies. The Odds Ratio for all three extracted genes GTF2I (OR = 1.58, CI [1.51, 1.66] p < 0.00001), TP53 (OR = 1.36, CI [1.12, 1.65], p < 0.002), and HRAS (OR = 1.02, CI [1.00, 1.04], p < 0.001).

Conclusions: According to obtained data, we noticed that the GTF2I gene exhibits a significant prevalence in the cohort of observed thymoma patients. Moreover, analyzing published articles NGS has suggested GTF2I, TP53, and HRAS 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 to thymoma.

Keywords: SNVs/InDels; meta-analysis; next-generation sequencing (NGS); thymoma.

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Figures

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Flow chart to illustrate the process by which articles were selected or rejected for inclusion in the study.
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Forest plot of GTH2I gene in thymoma.
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Forest plot of TP53 gene in thymoma.
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Forest plot of HRAS gene in thymoma.
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Funnel plot of GTF2I gene in thymoma.
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Funnel plot of TP53 gene in thymoma.
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Funnel plot of HRAS gene in thymoma.
See this image and copyright information in PMC

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