North Central London Cancer Alliance, University College London Hospitals NHS Foundation Trust, London, UK.
Department of Economics, University of Piraeus, Athens, Greece.
J Med Genet. 2023 May;60(5):440-449. doi: 10.1136/jmg-2022-108741. Epub 2022 Nov 1.
Our study aimed to establish 'real-world' performance and cost-effectiveness of ovarian cancer (OC) surveillance in women with pathogenic germline variants who defer risk-reducing bilateral salpingo-oophorectomy (RRSO).
Our study recruited 875 female -heterozygotes at 13 UK centres and via an online media campaign, with 767 undergoing at least one 4-monthly surveillance test with the Risk of Ovarian Cancer Algorithm (ROCA) test. Surveillance performance was calculated with modelling of occult cancers detected at RRSO. The incremental cost-effectiveness ratio (ICER) was calculated using Markov population cohort simulation.
Our study identified 8 OCs during 1277 women screen years: 2 occult OCs at RRSO (both stage 1a), and 6 screen-detected; 3 of 6 (50%) were ≤stage 3a and 5 of 6 (83%) were completely surgically cytoreduced. Modelled sensitivity, specificity, Positive Predictive Value (PPV) and Negative Predictive Value (NPV) for OC were 87.5% (95% CI, 47.3 to 99.7), 99.9% (99.9-100), 75% (34.9-96.8) and 99.9% (99.9-100), respectively. The predicted number of quality-adjusted life years (QALY) gained by surveillance was 0.179 with an ICER costsaving of -£102,496/QALY.
OC surveillance for women deferring RRSO in a 'real-world' setting is feasible and demonstrates similar performance to research trials; it down-stages OC, leading to a high complete cytoreduction rate and is cost-saving in the UK National Health Service (NHS) setting. While RRSO remains recommended management, ROCA-based surveillance may be considered for female -heterozygotes who are deferring such surgery.
我们的研究旨在确定在推迟进行降低风险双侧输卵管卵巢切除术（RRSO）的致病性种系变异女性中，卵巢癌（OC）监测的“真实世界”表现和成本效益。
我们的研究在 13 个英国中心和通过在线媒体活动招募了 875 名女性杂合子，其中 767 名接受了至少一次每 4 个月一次的 ROCA 测试进行监测。通过 RRSO 检测到隐匿性癌症的建模来计算监测性能。使用马尔可夫人群队列模拟计算增量成本效益比（ICER）。
我们的研究在 1277 名女性筛查年内发现了 8 例 OC：RRSO 时发现了 2 例隐匿性 OC（均为 1a 期），还有 6 例筛查发现的 OC；6 例中的 3 例（50%）≤3a 期，6 例中的 5 例（83%）完全手术减瘤。OC 的模型敏感性、特异性、阳性预测值（PPV）和阴性预测值（NPV）分别为 87.5%（95%CI，47.3-99.7）、99.9%（99.9-100）、75%（34.9-96.8）和 99.9%（99.9-100）。监测获得的质量调整生命年（QALY）预测数量为 0.179，ICER 节省了 -102496 英镑/QALY。
在“真实世界”环境中，为推迟 RRSO 的女性进行 OC 监测是可行的，并且与研究试验表现相似；它降低 OC 的分期，导致高完全减瘤率，并且在英国国家医疗服务体系（NHS）中具有成本效益。虽然 RRSO 仍然是推荐的治疗方法，但对于推迟这种手术的女性杂合子，可以考虑基于 ROCA 的监测。
