Abstract 7082: Differentially expressed genes as potential biomarkers in patients with suspected prostate cancer in a population of Colombian men

Abstract Prostate cancer (PCa) is the second most common type of cancer in men worldwide. In Colombia, PCa ranks first in incidence, with an estimated crude rate of 52.6 cases per 100, 000 men. A large proportion of PCa are latent and do not progress or affect the lives of patients. The prostate-specific antigen (PSA) test remains the most widely adopted primary screening biomarker for the presumptive diagnosis of PCa. However, PSA testing demonstrates limited utility as a screening tool due to its low specificity, which increases the risk of unnecessary biopsies and the potential for overdiagnosis. Our overarching goal is to identify specific biomarkers that allow the early detection of patients with suspected PCa. We conducted an exploratory study to identify genetic expression profiles associated with the aggressiveness of the disease in a cohort of Colombian patients attending the Urology clinic for the first biopsy at the National Cancer Institute and Urobosque recruited from 2021 to 2024 in Bogotá, Colombia. We performed transcriptome analysis using Illumina high-throughput RNA sequencing (NextSeq2000 system) on 75 paraffin-embedded tissues (FFPE): 36 Gleason-positive cancer samples (Patients) and 39 PCa-negative samples (Controls). Histopathological results according to Gleason Grade Group (GG) were distributed as follows: (GG1 n=1, GG2 n=2, GG3 n=15, GG4 n=5, and GG5 n=13). The mean age was 65 years, and the PSA ranged between 4.34 ng/ml and 191 ng/ml. We first identified differentially expressed genes (DEGs) by status (patient vs. control), and the DEGs were then correlated with age and PSA. Four hundred and seventy-three (473) genes were differentially expressed between patients and controls, 55 of which were identified as putative biomarkers of PCa using the Key Pathways Advisor software (KPA, Clarivate). Of those, 173 DEGs were correlated with PSA levels and 203 with age. We identified 113 DEGs common to the 3 variables (status, PSA, and age). According to the pathway enrichment analysis performed through KPA, SPON2, SERHL, KCNA2, PKP3, and SLC29A2 genes were the most significant (p < 0.001). We found that 6 out of the 10 most significant pathways in which our identified DEGs participate are associated with diseases of the genito-urinary tract, including prostate neoplasms, genital diseases, neoplasms, and male urogenital diseases. This is the first Colombian report that performs transcriptome analysis in a cohort of patients with suspected prostate cancer, showing very specific differences between patients diagnosed with prostate cancer versus patients with negative results. The development of strategies that will lead to a decrease in diagnostic biopsies and overtreatment of indolent disease remains a challenge for early detection of prostate cancer. Additional validations are needed to confirm these data. Citation Format: Dayanne M. Rodríguez-Hernández, Jovanny Zabaleta, Alba L. Cómbita, Rafael S. Parra-Medina, Carmen L. Roa, Mateo Barros Barraza, Alvaro Gutierrez. Differentially expressed genes as potential biomarkers in patients with suspected prostate cancer in a population of Colombian men [abstract]. In: Proceedings of the American Association for Cancer Research Annual Meeting 2025; Part 1 (Regular Abstracts); 2025 Apr 25-30; Chicago, IL. Philadelphia (PA): AACR; Cancer Res 2025;85(8_Suppl_1):Abstract nr 7082.