BRCA1/2 基因致病变异携带者在接受降低风险的输卵管切除术后发生高级别浆液性癌。

IF 9.9 1区 医学 Q1 ONCOLOGY
Iris A S Stroot, Joost Bart, Harry Hollema, Marise M Wagner, Refika Yigit, Helena C van Doorn, Joanne A de Hullu, Katja N Gaarenstroom, Marc van Beurden, Luc R C W van Lonkhuijzen, Brigitte F M Slangen, Ronald P Zweemer, Encarna B Gómez Garcia, Margreet G E M Ausems, Fenne L Komdeur, Christi J van Asperen, Muriel A Adank, Marijke R Wevers, Maartje J Hooning, Marian J E Mourits, Geertruida H de Bock
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引用次数: 0

摘要

背景:降低风险的输卵管切除术(RRSO)可有效预防 BRCA1/2 基因致病变异体(GPV)携带者发生高级别浆液性癌(HGSC)。但仍有一些妇女在 RRSO 后发生 HGSC,而病理结果却没有发现。本研究评估了无病理结果的 RRSO 后发生 HGSC 的长期发病率和风险因素:方法:从荷兰遗传性乳腺癌和卵巢癌(HEBON)队列中筛选出 BRCA1/2 GPV 携带者。RRSO后HGSC的随访数据来自荷兰全国病理数据库(PALGA),并通过组织病理学审查进行确认。HGSC 的累积发病率通过 Kaplan-Meier 分析法进行计算。采用Cox比例危险模型计算无病理结果的RRSO后HGSC风险增加的相关因素的危险比(HRs)和95%置信区间(CIs):共纳入 2519 名妇女,中位随访时间为 13.4 年(范围:0.0-27.6)。BRCA1 和 BRCA2 GPV 携带者的 HGSC 20 年累积发病率分别为 1.5%(95% CI:0.0-2.1)和 0.2%(95% CI:0.0-1.4)。所有发生 HGSC 的女性都在推荐年龄之后接受了 RRSO。RRSO标本包埋不完整(HR:4.2,95% CI:1.4-12.6)、RRSO年龄较高(HR每年:1.1,95% CI:1.0-1.1)以及携带BRCA1 GPV(HR:12.1,95% CI:1.6-91.2)与HGSC风险增加有关:结论:在 BRCA1/2 GPV 携带者中,RRSO 后无病理发现的 HGSC 长期发病率较低。严格遵守关于及时进行 RRSO 并将标本完整包埋的指南,可进一步降低 RRSO 后数年内发生 HGSC 的风险。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
High-grade serous carcinoma occurring after risk-reducing salpingo-oophorectomy in BRCA1/2 germline pathogenic variant carriers.

Background: Risk-reducing salpingo-oophorectomy (RRSO) effectively prevents high-grade serous carcinoma (HGSC) in BRCA1/2 germline pathogenic variant (GPV) carriers. Still, some women develop HGSC after RRSO without pathologic findings. This study assessed long-term incidence and risk factors for developing HGSC after RRSO without pathologic findings.

Methods: BRCA1/2 GPV carriers were selected from Hereditary Breast and Ovarian cancer in the Netherlands (HEBON) cohort. Follow-up data for HGSC after RRSO were obtained from the Dutch Nationwide Pathology Databank (PALGA) and confirmed by histopathological review. Cumulative incidence rates of HGSC were calculated using Kaplan-Meier analyses. Cox proportional hazards model was used to calculate hazard ratios (HRs) and 95% confidence intervals (CIs) for factors associated with an increased risk of HGSC following RRSO without pathologic findings.

Results: A total of 2519 women were included, with a median follow-up of 13.4 years (range: 0.0-27.6). The 20-years cumulative incidence rate of HGSC was 1.5% (95% CI: 0.0-2.1) for BRCA1 and 0.2% (95% CI: 0.0-1.4) for BRCA2 GPV carriers. All women who developed HGSC underwent RRSO after the recommended age. Incomplete embedding of the RRSO specimen (HR: 4.2, 95% CI: 1.4-12.6), higher age at RRSO (HR per year: 1.1, 95% CI: 1.0-1.1), and carrying a BRCA1 GPV (HR: 12.1, 95% CI: 1.6-91.2) were associated with increased risk of HGSC.

Conclusions: In BRCA1/2 GPV carriers, long-term incidence of HGSC after RRSO without pathologic findings was low. Strict adherence to guidelines regarding timely RRSO followed by complete specimen embedding can further reduce the risk of HGSC in the years following RRSO.

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来源期刊
CiteScore
17.00
自引率
2.90%
发文量
203
审稿时长
4-8 weeks
期刊介绍: The Journal of the National Cancer Institute is a reputable publication that undergoes a peer-review process. It is available in both print (ISSN: 0027-8874) and online (ISSN: 1460-2105) formats, with 12 issues released annually. The journal's primary aim is to disseminate innovative and important discoveries in the field of cancer research, with specific emphasis on clinical, epidemiologic, behavioral, and health outcomes studies. Authors are encouraged to submit reviews, minireviews, and commentaries. The journal ensures that submitted manuscripts undergo a rigorous and expedited review to publish scientifically and medically significant findings in a timely manner.
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