Context

Although the widespread use of prostate-specific antigen (PSA) has led to an early detection of prostate cancer (PCa) and a reduction of metastatic disease at diagnosis, PSA remains one of the most controversial biomarkers due to its limited specificity. As part of emerging efforts to improve both detection and management decision making, a number of new genomic tools have recently been developed.

Objective

This review summarizes the ability of genomic biomarkers to recognize men at high risk of developing PCa, discriminate clinically insignificant and aggressive tumors, and facilitate the selection of therapies in patients with advanced disease.

Evidence acquisition

A PubMed-based literature search was conducted up to May 2017. We selected the most recent and relevant original articles and clinical trials that have provided indispensable information to guide treatment decisions.

Evidence synthesis

Genome-wide association studies have identified several genetic polymorphisms and inherited variants associated with PCa susceptibility. Moreover, the urine-based assays SelectMDx, Mi-Prostate Score, and ExoDx have provided new insights into the identification of patients who may benefit from prostate biopsy. In men with previous negative pathological findings, Prostate Cancer Antigen 3 and ConfirmMDx predicted the outcome of subsequent biopsy. Commercially available tools (Decipher, Oncotype DX, and Prolaris) improved PCa risk stratification, identifying men at the highest risk of adverse outcome. Furthermore, other biomarkers could assist in treatment selection in castration-resistant PCa. AR-V7 expression predicts resistance to abiraterone/enzalutamide, while poly(ADP-ribose) polymerase-1 inhibitor and platinum-based chemotherapy could be indicated in metastatic patients who are carriers of mutations in DNA mismatch repair genes.

Conclusions

Introduction of genomic biomarkers has dramatically improved the detection, prognosis, and risk evaluation of PCa. Despite the progress made in discovering suitable biomarker candidates, few have been used in a clinical setting. Large-scale and multi-institutional studies are required to validate the efficacy and cost utility of these new technologies.

Patient summary

Prostate cancer is a heterogeneous disease with a wide variability. Genomic biomarkers in combination with clinical and pathological variables are useful tools to reduce the number of unnecessary biopsies, stratify low-risk from high-risk tumors, and guide personalized treatment decisions.

中文翻译：

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前列腺癌决策中的基因组标记

语境

尽管前列腺特异性抗原（PSA）的广泛使用已导致对前列腺癌（PCa）的早期检测并在诊断时减少了转移性疾病，但PSA由于其有限的特异性而仍是最具争议的生物标志物之一。作为改善检测和管理决策能力的新举措的一部分，最近开发了许多新的基因组工具。

客观的

这篇综述总结了基因组生物标志物识别患有PCa的高风险男性，区分临床上无关紧要的和侵袭性肿瘤以及促进晚期疾病患者的治疗选择的能力。

取证

截至2017年5月，我们进行了基于PubMed的文献检索。我们选择了最新和相关的原始文章和临床试验，这些文章提供了必不可少的信息来指导治疗决策。

证据综合

全基因组关联研究已经确定了几种遗传多态性和与PCa易感性相关的遗传变异。此外，基于尿液的分析SelectMDx，Mi-Prostate Score和ExoDx为鉴定可能受益于前列腺活检的患者提供了新的见识。对于先前有阴性病理发现的男性，前列腺癌抗原3和ConfirmMDx预测了随后的活检结果。市售工具（解密，Oncotype DX和Prolaris）改善了PCa风险分层，从而确定了处于不良后果风险最高的男性。此外，其他生物标记物可以协助去势抵抗性PCa的治疗选择。AR-V7表达可预测对阿比特龙/ enzalutamide的耐药性，

结论

基因组生物标志物的引入极大地改善了PCa的检测，预后和风险评估。尽管在发现合适的生物标志物候选物方面取得了进展，但很少在临床环境中使用。需要进行大规模和多机构的研究，以验证这些新技术的功效和成本效用。

病人总结

前列腺癌是具有广泛变异性的异质性疾病。基因组生物标志物结合临床和病理学变量是减少不必要的活检次数，对高危肿瘤的低危进行分层以及指导个性化治疗决策的有用工具。