Helfand Brian T, Conran Carly A, Xu Jianfeng, Catalona William J
aDepartment of Surgery, NorthShore University HealthSystem, Program for Personalized Cancer Care, Evanston bDepartment of Urology, Northwestern University, Chicago, Illinois, USA.
Curr Opin Urol. 2017 Sep;27(5):475-480. doi: 10.1097/MOU.0000000000000418.
To provide an overview of how genetic, serum, and urine biomarkers can help identify men at high risk for prostate cancer (PCa) and aggressive disease and men who would benefit from prostate biopsy.
Screening for PCa is controversial because of concerns about overdiagnosis and overtreatment of nonlife-threatening tumors. Therefore, an approach to screening that includes a detailed family history with genetic testing of risk single nucleotide polymorphisms and high-penetrance genetic variants should be considered. After an elevated serum prostate-specific antigen (PSA) level has been confirmed, obtaining additional information (family history, biomarkers, and imaging) should be considered before recommending a prostate biopsy.
There are now genetic tests that can help identify men who would benefit from PSA testing. Additional biomarker and imaging tests should be offered to those men who are confirmed to have elevated PSA values. These new biomarkers and imaging tests can improve the specificity of PSA testing while missing a small percentage of high-grade tumors. The path forward involves a multiparametric risk assessment based on clinical data and these new tests.
概述基因、血清和尿液生物标志物如何有助于识别前列腺癌（PCa）高危男性、侵袭性疾病患者以及将从前列腺活检中获益的男性。
由于担心对非危及生命的肿瘤进行过度诊断和过度治疗，PCa筛查存在争议。因此，应考虑一种筛查方法，包括详细的家族史以及对风险单核苷酸多态性和高穿透性基因变异进行基因检测。在确认血清前列腺特异性抗原（PSA）水平升高后，在推荐前列腺活检之前应考虑获取更多信息（家族史、生物标志物和影像学检查）。
现在有基因检测可帮助识别将从PSA检测中获益的男性。对于那些PSA值被确认升高的男性，应提供额外的生物标志物和影像学检查。这些新的生物标志物和影像学检查可以提高PSA检测的特异性，同时遗漏一小部分高级别肿瘤。未来的方向是基于临床数据和这些新检测进行多参数风险评估。
