ADVANCES IN CELLULAR AND MOLECULAR PATHOLOGY: MECHANISTIC INSIGHTS INTO DISEASE ETIOLOGY AND THERAPEUTIC TARGETS

Abstract

Molecular changes in the gynecological cancers are complex and play a pivotal role in disease onset, progression and drug resistance. Transcriptomics is a powerful tool to discover the altered genes and pathways in cervical cancer. The present study aimed to identify differentially expressed genes and enriched molecular pathways associated with cervical cancer and to highlight potential mechanistic and therapeutic targets. A secondary transcriptomic dataset comprising cervical, endometrial, and vulvar cancer and normal tissue samples was analyzed, with a focused comparison between cervical cancer and normal cervical tissues. Genes with low variance were filtered, probe identifiers were mapped to gene symbols, and differential expression analysis was performed using a threshold of p < 0.01 and |log2 fold change| ≥ 1. Functional interpretation was carried out using Gene Ontology and KEGG pathway enrichment analyses for both upregulated and downregulated gene sets. A total of 628 differentially expressed genes were identified, including 323 upregulated and 305 downregulated genes. Upregulated genes were primarily enriched in DNA replication, DNA metabolic processes, mitotic spindle organization, cell cycle regulation, p53 signaling, and homologous recombination, with key candidates including MCM4, MCM2, FEN1, CDK1, CCNB1, and PCNA. In contrast, downregulated genes were associated with extracellular matrix assembly, epithelial development, muscle contraction, Wnt signaling, and focal adhesion, including ZFP36L2, LTBP4, MYL9, and TAGLN. These findings indicate a transcriptional shift toward enhanced proliferative and genome maintenance activity alongside suppression of structural and differentiation-related processes. The results provide mechanistic insight into cervical cancer etiology and identify candidate molecular targets for further validation and therapeutic exploration.