Division of Urology, Rabin Medical Center, Petah Tikva, Israel.
Division of Surgery, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
J Urol. 2020 Oct;204(4):707-713. doi: 10.1097/JU.0000000000001027. Epub 2020 Mar 19.
Men with germline mutations in DNA repair genes have a higher risk of prostate cancer. Active surveillance is the preferred treatment modality for low risk prostate cancer. However, many fear offering this alternative to men with germline mutations. We describe the short-term oncologic outcomes of active surveillance in a population of men with a high genetic predisposition for prostate cancer.
A prospective cohort of men with germline DNA repair gene mutations were diagnosed with Grade Group 1 prostate cancer. All men were offered active surveillance. Followup consisted of prostate specific antigen every 3 months, multiparametric magnetic resonance imaging and a magnetic resonance imaging-ultrasound fusion confirmatory biopsy within 1 year of diagnosis. The primary end points included treatment and progression-free survival.
Eighteen carriers of DNA repair gene mutations were diagnosed with low risk prostate cancer ( [8], [6], [2], Lynch syndrome [2]). Of these patients 15 (83%) initiated active surveillance and 3 (17%) declined. All but 1 were fully compliant with the active surveillance protocol (93%). Overall 20% (3) had upgrading at confirmatory biopsy and were treated. At a median followup of 28 months (IQR 8.5-42) 80% of patients (12) on active surveillance are free from upgrading or radical treatment.
Active surveillance may be feasible among carriers diagnosed with low risk prostate cancer. If embarking on active surveillance, carriers should be very carefully monitored at a specialized clinic, optimizing patient compliance and minimizing risk. Until larger scale studies with long-term followup become available, this option should be cautiously discussed with the patient.
具有 DNA 修复基因突变的男性患前列腺癌的风险更高。主动监测是低危前列腺癌的首选治疗方式。然而，许多人担心向携带基因突变的男性提供这种替代方案。我们描述了具有高遗传易感性前列腺癌的男性人群中主动监测的短期肿瘤学结果。
对携带种系 DNA 修复基因突变的男性进行前瞻性队列研究，诊断为 1 级前列腺癌。所有男性均接受主动监测。随访包括前列腺特异性抗原每 3 个月 1 次、多参数磁共振成像和磁共振成像-超声融合确认活检，在诊断后 1 年内进行。主要终点包括治疗和无进展生存。
18 名 DNA 修复基因突变携带者被诊断为低危前列腺癌（[8]、[6]、[2]、林奇综合征[2]）。这些患者中有 15 名（83%）开始接受主动监测，3 名（17%）拒绝。除 1 名外，所有患者均完全遵守主动监测方案（93%）。总体而言，20%（3 名）的患者在确认活检时出现升级并接受治疗。在中位数为 28 个月（IQR 8.5-42）的随访中，12 名（80%）接受主动监测的患者无升级或根治治疗。
在诊断为低危前列腺癌的携带者中，主动监测可能是可行的。如果选择主动监测，应在专门的诊所对携带者进行非常仔细的监测，优化患者依从性并降低风险。在提供长期随访的更大规模研究之前，应谨慎与患者讨论此选项。
