Genomic and transcriptomic analysis of uterine corpus endometrial carcinoma: immune Modulation, prognostic Biomarkers, and somatic alterations
Sabetian S. Cava C. Jahromi B.N. Askary E. Alaee S. Vakili B.
December 2025Springer
Network Modeling Analysis in Health Informatics and Bioinformatics
2025#14Issue 1
Endometrial carcinoma (EC) represents the most prevalent gynecologic malignancy in developed countries and continues to pose significant clinical challenges. Despite favorable prognoses for patients diagnosed at early stages, high-grade and recurrent EC subtypes are associated with adverse outcomes and limited therapeutic options. In this study, we performed a comprehensive integrative analysis of uterine corpus endometrial carcinoma using transcriptomic and genomic data from The Cancer Genome Atlas (TCGA-UCEC) cohort. Analyses were conducted using R software employing DESeq2 for differential expression, clusterProfiler for functional enrichment, msigdbr for apoptosis-related gene, maftools for somatic mutations, and Cytoscape for regulatory network visualization. We identified 1,232 mRNAs, 531 lncRNAs, and 3 miRNAs significantly dysregulated in tumor tissues. Functional enrichment revealed prominent dysregulation of pathways involved in cell cycle control, apoptosis, immune modulation, and tissue-specific biological processes. Of particular interest, apoptosis-related genes TOP2A, ERN2, FAP, FOXL2, HTR2A, and PTGIS exhibited significant differential expression. An integrated mRNA–miRNA–lncRNA network identified hub RNAs including miR-23b, miR-27b, miR-145, KIF20A, TOP2A, CDC20, CCNB1, DLGAP5, NUSAP1, UBE2C, CENPE, NCAPG, PLK1, KIF4A, PTTG1, MKI67, CDCA3, and HMMR implicated in tumor progression. Survival analysis showed that high expression of GFRA4, SPRR1A, CALCA, and TOP2A was associated with reduced overall survival. Immune infiltration analysis demonstrated negative correlations between the key genes involved in disease development and CD8+/CD4+ T cell abundance, suggesting immune evasion mechanisms. Somatic mutation profiling revealed frequent alterations in mitosis-regulating genes. These findings provide valuable insights into the molecular and immunological landscape of EC, proposing novel candidate biomarkers and therapeutic targets.
Endometrial carcinoma , Genomic analysis , Regulatory network , Survival analysis
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Infertility Research Center, Shiraz University of Medical Sciences, Shiraz, Iran
Department of Science, Technology and Society, University School for Advanced Studies IUSS Pavia, Palazzo del Broletto, Piazza Della Vittoria 15, Pavia, 27100, Italy
Department of Obstetrics and Gynecology, School of Medicine, Shiraz University of Medical Sciences, Shiraz, Iran
Department of Reproductive Biology, School of Advanced Medical Sciences and Technologies, Shiraz University of Medical Sciences, Shiraz, Iran
Stem Cells Technology Research Center, Shiraz University of Medical Sciences, Shiraz, Iran
Department of Natural Sciences, West Kazakhstan Marat Ospanov Medical University, Aktobe, 030012, Kazakhstan
Pharmaceutical Sciences Research Center, School of Pharmacy, Shiraz University of Medical Sciences, Shiraz, Iran
Infertility Research Center
Department of Science
Department of Obstetrics and Gynecology
Department of Reproductive Biology
Stem Cells Technology Research Center
Department of Natural Sciences
Pharmaceutical Sciences Research Center
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