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无症状致病性变异携带者行预防性输卵管卵巢切除术降低高级别浆液性卵巢癌发病风险:患病率及临床因素。

High-Grade Serous Carcinoma at Risk-Reducing Salpingo-Oophorectomy in Asymptomatic Carriers of Pathogenic Variants: Prevalence and Clinical Factors.

机构信息

Department of Obstetrics and Gynecology, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands.

Department of Epidemiology, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands.

出版信息

J Clin Oncol. 2023 May 10;41(14):2523-2535. doi: 10.1200/JCO.22.01237. Epub 2023 Feb 21.

Abstract

PURPOSE

To investigate the prevalence of and clinical factors associated with high-grade serous carcinoma (HGSC) at risk-reducing salpingo-oophorectomy (RRSO) in asymptomatic -pathogenic variant (PV) carriers.

PATIENTS AND METHODS

We included -PV carriers who underwent RRSO between 1995 and 2018 from the Hereditary Breast and Ovarian cancer in the Netherlands study. All pathology reports were screened, and histopathology reviews were performed for RRSO specimens with epithelial abnormalities or where HGSC developed after normal RRSO. We then compared clinical characteristics, including parity and oral contraceptive pill (OCP) use, for women with and without HGSC at RRSO.

RESULTS

Of the 2,557 included women, 1,624 had , 930 had , and three had both -PV. The median age at RRSO was 43.0 years (range: 25.3-73.8) for -PV and 46.8 years (27.6-77.9) for -PV carriers. Histopathologic review confirmed 28 of 29 HGSCs and two further HGSCs from among 20 apparently normal RRSO specimens. Thus, 24 (1.5%) -PV and 6 (0.6%) -PV carriers had HGSC at RRSO, with the fallopian tube identified as the primary site in 73%. The prevalence of HGSC in women who underwent RRSO at the recommended age was 0.4%. Among PV carriers, older age at RRSO increased the risk of HGSC and long-term OCP use was protective.

CONCLUSION

We detected HGSC in 1.5% (-PV) and 0.6% (-PV) of RRSO specimens from asymptomatic -PV carriers. Consistent with the fallopian tube hypothesis, we found most lesions in the fallopian tube. Our results highlight the importance of timely RRSO with total removal and assessment of the fallopian tubes and show the protective effects of long-term OCP.

摘要

目的

调查无症状 - 致病性变异(PV)携带者接受风险降低的输卵管卵巢切除术(RRSO)时,高级别浆液性癌(HGSC)的流行情况和与高级别浆液性癌相关的临床因素。

患者和方法

我们纳入了 1995 年至 2018 年间接受 RRSO 的 -PV 携带者,这些患者均来自荷兰遗传性乳腺癌和卵巢癌研究。所有的病理报告都进行了筛查,并对 RRSO 标本中存在上皮异常或 RRSO 后正常组织中出现 HGSC 的标本进行了组织病理学复查。然后,我们比较了 RRSO 时患有和不患有 HGSC 的女性的临床特征,包括生育史和口服避孕药(OCP)使用情况。

结果

在 2557 名纳入的女性中,1624 名携带 -PV,930 名携带 -PV,3 名同时携带两种致病性变异。-PV 携带者的 RRSO 中位年龄为 43.0 岁(范围:25.3-73.8),-PV 携带者的 RRSO 中位年龄为 46.8 岁(范围:27.6-77.9)。组织病理学复查证实了 29 例 HGSC 中的 28 例,以及 20 例看似正常的 RRSO 标本中的另外 2 例 HGSC。因此,24 名(1.5%)-PV 和 6 名(0.6%)-PV 携带者在 RRSO 时患有 HGSC,其中 73%的原发性部位为输卵管。建议年龄接受 RRSO 的女性中 HGSC 的患病率为 0.4%。在 PV 携带者中,RRSO 年龄越大,HGSC 的风险越高,长期使用口服避孕药具有保护作用。

结论

我们在无症状 -PV 携带者的 RRSO 标本中发现了 1.5%(-PV)和 0.6%(-PV)的 HGSC。与输卵管假说一致,我们发现大多数病变都在输卵管。我们的研究结果强调了及时进行 RRSO 的重要性,包括全面切除和评估输卵管,并显示了长期使用口服避孕药的保护作用。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/56e9/10414703/9f0ac85f6c91/jco-41-2523-g001.jpg

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