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Updated: Jul 18, 2026
Predictive Immune Modeling of Solid Tumors
Published on: February 25, 2020
Tumor mutational burden, gene expression patterns, and immune-cell deconvolution in testicular germ cell tumors
Lili Wang1,2, Yun Peng3, Dingkun Hou1,2
1Department of Oncology, the 2nd Hospital of Tianjin Medical University, Tianjin, China.
Background:
Testicular germ cell tumor (TGCT) is the most common malignancy in young males from ages 15 to 44 years, but treatment remains challenging. Emerging evidence indicates that the tumor mutational burden (TMB) may be associated with tumor growth and progression. This study examined the association of TMB with the gene expression profiles and the tumor microenvironment (TME) of TGCT.
Methods:
Datasets from the Gene Expression Omnibus (GEO), The Cancer Genome Atlas (TCGA), and Genotype-Tissue Expression (GTEx) databases were analyzed. Differential expression analysis was applied to identify TMB-related genes via DESeq2 in TCGA. Further protein-protein interaction (PPI) network analysis, including module and degree analysis combined with Kaplan-Meier analysis, was applied to identify four hub genes (FOXA2, IRX3, MYH7, and TNNT2). Gene set enrichment analysis (GSEA) demonstrated significant enrichment of immune-related pathways associated with both TMB and hub gene expression profiles. The Human Protein Atlas database, receiver operating characteristic (ROC) curve analysis, and univariable Cox analysis were used to confirm the prognostic implications of hub genes in TGCT.
Results:
The CIBERSORT algorithm, Wilcoxon rank-sum test, and Spearman analysis were applied to determine the association between TMB, the four hub genes (FOXA2, IRX3, MYH7, and TNNT2), and the infiltration levels of 22 immune cell types. GSEA indicated that TMB and TMB-related hub genes (FOXA2, IRX3, MYH7, and TNNT2) were all highly associated with immune-related function.
Conclusions:
Our findings could provide a better understanding of the progression of TGCT and identify potential biomarkers or drug targets for TGCT.
Insights
Tumor mutational burden (TMB) is linked to immune cell infiltration in testicular germ cell tumors (TGCT). This research identifies four key genes (FOXA2, IRX3, MYH7, TNNT2) associated with TMB and immune function in TGCT.
Area of Science:
- Oncology
- Genomics
- Immunology
Background:
- Testicular germ cell tumor (TGCT) is the most prevalent cancer in young males (15-44 years).
- Treatment for TGCT remains challenging, necessitating novel therapeutic strategies.
- Tumor mutational burden (TMB) shows potential as a factor influencing TGCT growth and progression.
Purpose of the Study:
- To investigate the association between TMB and gene expression profiles in TGCT.
- To explore the relationship between TMB and the tumor microenvironment (TME) in TGCT.
- To identify potential prognostic biomarkers and therapeutic targets for TGCT.
Main Methods:
- Analysis of datasets from GEO, TCGA, and GTEx databases.
- Differential expression analysis and protein-protein interaction (PPI) network analysis to identify TMB-related hub genes (FOXA2, IRX3, MYH7, TNNT2).
- Gene set enrichment analysis (GSEA) and immune cell infiltration analysis (CIBERSORT) to assess TME and immune associations.
Main Results:
- Four hub genes (FOXA2, IRX3, MYH7, TNNT2) were identified as significantly associated with TMB in TGCT.
- GSEA revealed strong links between TMB, hub gene expression, and immune-related pathways.
- TMB and the identified hub genes demonstrated significant correlations with the infiltration levels of various immune cell types.
Conclusions:
- TMB and its associated hub genes are integral to the immune landscape of TGCT.
- The identified hub genes may serve as potential prognostic biomarkers for TGCT.
- These findings offer insights into TGCT progression and potential avenues for targeted therapies.
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