Viti Alessandro, Quarta Leonardo, Zaurito Paolo, Santangelo Alfonso, Cosenza Andrea, Barletta Francesco, Scuderi Simone, Stabile Armando, Cucchiara Vito, Montorsi Francesco, Gandaglia Giorgio, Briganti Alberto
Unit of Urology, Division of Oncology, Gianfranco Soldera Prostate Cancer Lab, Urological Research Institute (URI), IRCCS San Raffaele Scientific Institute, 20132 Milan, Italy.
Vita-Salute San Raffaele University, 20132 Milan, Italy.
Cancers (Basel). 2025 Jul 14;17(14):2334. doi: 10.3390/cancers17142334.
Genomic score testing is increasingly being integrated into the management of prostate cancer (PCa) to overcome the limitations of traditional clinical and pathological parameters. Genomic tools will represent essential components of precision medicine, supporting risk stratification, therapeutic decision-making, and personalized screening strategies. Genomic score tests can be broadly classified into two main categories: polygenic risk scores (PRSs) and tumor-derived genomic classifiers (GCs). While not yet standard in routine practice, several international guidelines recommend their selective use when results are likely to impact clinical management. PRSs estimate an individual's susceptibility to PCa based on the cumulative effect of multiple low-penetrance germline genetic variants. These scores show promise in enhancing early detection strategies and identifying men at higher genetic risk who may benefit from tailored screening protocols. Tumor-based GCs assays provide prognostic information that complements conventional clinical and pathological parameters, and are used to guide treatment decisions, including eligibility for active surveillance (AS) or adjuvant therapy after treatment of the primary tumor. This review summarizes and analyzes the current evidence on genomic testing in PCa, with a focus on the available assays, their clinical applications, and their predictive and prognostic value across the disease spectrum. When integrated with clinical and pathological parameters, these tools have the potential to significantly enhance personalized care and should be increasingly considered in routine clinical practice.
基因组评分检测正越来越多地被纳入前列腺癌(PCa)的管理中,以克服传统临床和病理参数的局限性。基因组工具将成为精准医学的重要组成部分,支持风险分层、治疗决策和个性化筛查策略。基因组评分检测大致可分为两大类:多基因风险评分(PRSs)和肿瘤来源的基因组分类器(GCs)。虽然在常规实践中尚未成为标准,但一些国际指南建议在结果可能影响临床管理时选择性使用它们。PRSs基于多个低 penetrance 种系遗传变异的累积效应来估计个体患 PCa 的易感性。这些评分在加强早期检测策略和识别可能从定制筛查方案中受益的高遗传风险男性方面显示出前景。基于肿瘤的 GCs 检测提供补充传统临床和病理参数的预后信息,并用于指导治疗决策,包括原发性肿瘤治疗后进行主动监测(AS)或辅助治疗的资格。本综述总结并分析了目前关于 PCa 基因组检测的证据,重点关注可用的检测方法、它们的临床应用以及它们在整个疾病谱中的预测和预后价值。当与临床和病理参数相结合时,这些工具有可能显著加强个性化护理,并且在常规临床实践中应越来越多地被考虑。