Division of Urology, University of Toronto, Toronto, Ontario, Canada.
Curr Opin Urol. 2022 Sep 1;32(5):445-450. doi: 10.1097/MOU.0000000000001019. Epub 2022 Jul 18.
Men with high-risk germline mutations are at significantly higher risk of developing and dying from prostate cancer. Current screening and treatment paradigms may lead to missed opportunities for cure. Herein we review the current literature on prevention, screening and treatment of these carriers and explore the potential role of prophylactic prostatectomy in primary prevention of prostate cancer mortality.
Prostate-specific antigen (PSA)-based screening has demonstrated marginal benefits in prostate cancer (PCa) survival and uncertainty remains on its true benefit among high-risk carriers. Recent results indicate that PCa in BRCA 2 carriers occurs at a higher incidence, younger age and progresses more rapidly compared with noncarriers. An intensified screening protocol of MRI and PSA in young carriers demonstrated how using PSA values alone may be insufficient. Current evidence indicates that high-risk carriers have worse survival outcomes after undergoing radical treatment for screening detected disease when compared with noncarriers.
Prophylactic prostatectomy within the context of a clinical trial is a reasonable primary prevention option for discussion with high-risk carriers, especially BRCA2 carriers during the shared decision-making process. Limitations exist in the current strategies of early PSA screening followed by radical treatment in this group.
具有高风险种系突变的男性患前列腺癌和死于前列腺癌的风险显著增加。目前的筛查和治疗模式可能导致错失治愈机会。本文回顾了这些携带者的预防、筛查和治疗的最新文献，并探讨了预防性前列腺切除术在前列腺癌死亡率一级预防中的潜在作用。
基于前列腺特异性抗原（PSA）的筛查在前列腺癌（PCa）生存方面显示出了边际获益，但在高风险携带者中的真正获益仍存在不确定性。最近的结果表明，BRCA2 携带者的前列腺癌发病率更高，发病年龄更小，进展速度更快。对年轻携带者进行 MRI 和 PSA 的强化筛查方案表明，仅使用 PSA 值可能不够。目前的证据表明，与非携带者相比，高危携带者在接受筛查发现的疾病的根治性治疗后，生存结局更差。
在临床试验的背景下，预防性前列腺切除术对于与高危携带者（尤其是 BRCA2 携带者）进行讨论是合理的一级预防选择，在这一过程中，需要进行共同决策。在这一人群中，目前的早期 PSA 筛查后进行根治性治疗策略存在局限性。
