Background: Prostate cancer (PCa) remains a major health concern worldwide, necessitating comprehensive research into potential biomarkers for improved diagnostic accuracy and therapeutic targeting. This cross-sectional study aims to explore gene expression profiling of prostate cancer tumor markers, conducted at Riphah University and DHQ Hospital Toba Tek Singh.

Aim: The primary objective of this study is to elucidate the gene expression patterns associated with novel prostate cancer tumor markers, shedding light on their potential diagnostic and therapeutic implications.

Methods: The study included 70 participants from the Riphah University and DHQ Hospital Toba Tek Singh. Sample size determination was performed using an online sample size calculator for genetic studies, considering a minor allele frequency (MAF) of 0.40, power of study at 90%, and a significance level of 0.05%. Gene expression profiling carried out through advanced molecular techniques, providing insights into the intricate genetic landscape of prostate cancer.

Results: Samples of seventy patients included in the study to measure the utilization of (PCA3), TMPRSS2:ERG  and OR51E1 as biomarkers for the diagnosis of prostate cancer. Mean age of study participants was 62.05±9.1 years. Gleason scores of the thirty three participants were taken. Majority of them were 4+4=8 (10 cases; 43.47%). Median value of the prostate-specific antigen (PSA) was 12.7ng/mL (0.33–62.71).

There was 55gram median value of the prostate weight. The median value for TMPRSS2: ERG expression was 0.13 (−0.19–0.38), PCA 3 expression was 0.15 (0.21–0.42) and OR51E1 expression was 0.12 (0.19–0.38). TMPRSS2 ERG, with a 5.2-fold increase, is known to facilitate viral entry into prostate cells, suggesting potential links between viral infections and prostate cancer development. PCA3, highly specific to prostate cancer, shows an 8.1-fold upregulation, making it a promising candidate for diagnostic markers. Key genes in this pathway, such TMPRSS2ERG gene and PCA3.

Conclusion: Diagnostic accuracy of PCA3, OR51E1 and TMPRSS-2 (ERG gene) genes and comparison with serum PSA level in diagnosing the prostate cancer is identified as a potential diagnostic and therapeutic target of PCa. And recent study showed a great ascendance of biomarkers PCA3, OR51E1, TMPRSS-2 (ERG fusion gene) in PCa diagnosis, which may prevail in clinical practice. Therefore, in order to optimize the PCa detection, PCA3, OR51E1, TMPRSS-2 (ERG fusion gene) test might have applicable diagnostic.