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ORIGINAL RESEARCH article

Front. Genet.

Sec. Cancer Genetics and Oncogenomics

Volume 16 - 2025 | doi: 10.3389/fgene.2025.1631060

Bioinformatics-Based Identification of Differentially Expressed Genes in Endometrial Carcinoma: Implications for Early Diagnosis and Prognostic Stratification

Provisionally accepted
Liang  GaoLiang Gao1Donglan  YuanDonglan Yuan2Aihua  HuangAihua Huang2Hua  QianHua Qian2*
  • 1Other
  • 2The Affiliated Taizhou People's Hospital of Nanjing Medical University, Taizhou, China

The final, formatted version of the article will be published soon.

Introduction: This study aims to identify differentially expressed genes (DEGs) in endometrial carcinoma (EC) through bioinformatics analysis and investigate their roles in early diagnosis and prognosis. Methods: EC-related gene datasets were retrieved from the NCBI and analyzed using R packages to screen for DEGs. Primers were designed for selected DEGs, and their expression levels were validated via qPCR. Logistic regression, survival analysis, Cox proportional hazards models, and random forest models were employed to evaluate associations between DEGs and clinical outcomes. Results: Bioinformatics analysis identified significantly upregulated genes (Erb-B2, PIK3CA, CCND1, VEGF, KIT) and downregulated genes (PTEN, E-cadherin, p53). Logistic regression revealed Erb-B2 as a protective factor against poor prognosis, whereas E-cadherin and P53 were risk genes. Clinical markers CA125, CA199, and IL-9 also emerged as prognostic risk factors. Survival analysis demonstrated significant divergence between good and poor prognosis groups (P < 0.05), with HR < 1 for Erb-B2 and p53 (protective effects) and HR > 1 for E-cadherin, CA125, CA199, and IL-9 (risk effects). The random forest model highlighted CA199 as a pivotal prognostic biomarker, while decision tree analysis enabled effective patient stratification based on CA125 and CA199 thresholds. Conclusion: The identified DEGs and clinical indicators hold significant potential for improving early diagnosis and prognostic evaluation in EC. These findings provide novel biomarkers and theoretical foundations for precision medicine, guiding risk stratification and personalized therapeutic strategies.

Keywords: Bioinformatics analysis, diagnosis, prognosis, endometrial carcinoma, biomarkers

Received: 19 May 2025; Accepted: 29 Aug 2025.

Copyright: © 2025 Gao, Yuan, Huang and Qian. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.

* Correspondence: Hua Qian, The Affiliated Taizhou People's Hospital of Nanjing Medical University, Taizhou, China

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