Department for Gynaecological Oncology, Institute of Oncology Ljubljana, Ljubljana, Slovenia.
Molecular Diagnostics Department, Institute of Oncology Ljubljana, Ljubljana, Slovenia.
Radiol Oncol. 2020 May 28;54(2):180-186. doi: 10.2478/raon-2020-0020.
Background We assessed the prevalence, localization, type and outcome of occult cancer at risk-reducing salpingo-oophorectomy or salpingectomy (RRSO) in asymptomatic carriers of pathogenic or likely pathogenic BRCA1/2 variants and high-risk BRCA1/2 negative women. Patients and methods A retrospective analysis of all consecutive gynaecologic preventive surgeries from January 2009 to December 2015 was performed. Participants underwent genetic counselling and BRCA1/2 testing before the procedure. Data on clinical parameters, adjuvant treatment and follow-up were collected and analysed. Results One hundred and fifty-five RRSO were performed in 110 BRCA1, 35 BRCA2 carriers of pathogenic or likely pathogenic variants and 10 high-risk BRCA1/2 negative women, at the mean age of 48.3 years. Nine occult cancers (9/155, 5.8%) were identified; eight in BRCA1 positive women and one in high-risk BRCA1/2 negative woman. We identified four non-invasive serous intraepithelial tubal carcinomas (3 in BRCA1 carriers and 1 in a high-risk BRCA1/2 negative woman) and five invasive tubo-ovarian high grade serous cancers (all detected in BRCA1 carriers). Only one out of nine patients (11.1%) with occult cancer had a slightly elevated CA-125 value preoperatively. Conclusions A 5.8% prevalence of occult invasive and noninvasive tubo-ovarian serous cancer after RRSO was found in high risk asymptomatic and screen negative women. We conclude that RRSO should be performed in BRCA1/2 carriers and in high-risk BRCA1/2 negative women. Age of preventive gynaecologic surgery should be carefully planned, taking into account the completion of childbearing age and type of mutation. The results favour the tubal hypothesis of tubal origin of high grade serous ovarian and peritoneal cancer. Cytology result of peritoneal cavity washing was important for the decision making process in determining treatment. Cytology examination should be performed in all cases of RRSO. CA-125 assay did not prove to be an effective screening tool for early cancer detection in our patients.
我们评估了在无症状携带致病性或可能致病性 BRCA1/2 变体和高风险 BRCA1/2 阴性的高危女性中进行预防性输卵管卵巢切除术或输卵管切除术（RRSO）的隐匿性癌症的患病率、定位、类型和结局。
对 2009 年 1 月至 2015 年 12 月期间所有连续进行的妇科预防性手术进行回顾性分析。参与者在手术前接受遗传咨询和 BRCA1/2 检测。收集并分析了临床参数、辅助治疗和随访的数据。
在 110 名 BRCA1 携带者、35 名携带致病性或可能致病性变异的 BRCA2 携带者和 10 名高风险 BRCA1/2 阴性女性中进行了 155 例 RRSO，平均年龄为 48.3 岁。在 9 例隐匿性癌症（155 例中的 9 例，5.8%）中发现了 8 例在 BRCA1 阳性女性中，1 例在高风险 BRCA1/2 阴性女性中。我们发现了 4 例非侵袭性浆液性输卵管内上皮性 tubal 癌（3 例在 BRCA1 携带者中，1 例在高风险 BRCA1/2 阴性女性中）和 5 例侵袭性 tubo-ovarian 高级别浆液性癌症（均在 BRCA1 携带者中发现）。只有 9 例隐匿性癌症患者（11.1%）中的 1 例术前 CA-125 值略有升高。
在高风险无症状和阴性筛查的女性中，RRSO 后隐匿性侵袭性和非侵袭性 tubo-ovarian 浆液性癌的患病率为 5.8%。我们得出结论，RRSO 应在 BRCA1/2 携带者和高风险 BRCA1/2 阴性女性中进行。妇科预防性手术的年龄应谨慎计划，考虑到生育年龄和突变类型。结果支持输卵管起源的 tubal 假说，即输卵管起源的高级别浆液性卵巢和腹膜癌。腹腔冲洗细胞学结果对确定治疗方案的决策过程很重要。RRSO 应在所有病例中进行细胞学检查。CA-125 测定在我们的患者中并未证明是早期癌症检测的有效筛查工具。
