From prostate specific antigen to genomic signatures: Advances in biomarkers for prostate cancer diagnosis and prognosis

Abstract

Prostate cancer is one of the most prevalent malignancies affecting men worldwide. It arises from the uncontrolled proliferation of abnormal cells within the prostate gland, an essential component of the male reproductive system, and exhibits highly variable clinical behaviour, ranging from indolent, localised tumours to aggressive, metastatic disease. Early detection significantly improves treatment outcomes and survival rates, emphasising the urgent need for more sensitive and specific diagnostic approaches. This review provides a comprehensive overview of diagnostic and prognostic biomarkers associated with prostate cancer, highlighting their potential in early detection and disease monitoring. Traditional biomarkers such as digital rectal examination (DRE), prostate-specific antigen (PSA), prostatic acid phosphatase (PAP), and alkaline phosphatase (ALP) are discussed alongside emerging molecular markers that offer enhanced accuracy and predictive value. These include PCA3, SelectMDx, ExoDx Prostate (EPI), bone-specific ALP (BALP), 4Kscore, circulating tumour cells (CTCs), prostate health index (PHI), Oncotype DX Genomic Prostate Score (GPS), Decipher test, and ERG gene fusion. Additionally, the review addresses key genetic alterations implicated in prostate carcinogenesis, including mutations in BRCA1/2, HOXB13, and PTEN deletions, as well as changes in the androgen receptor pathway. By evaluating recent advancements and applications of these biomarkers, this review aims to enhance understanding of their role in improving early diagnosis, prognosis, and personalised management of prostate cancer.