Background

To clarify the clinical as well as pathological outcomes in Japanese women with germline pathogenic BRCA1/2 variants who underwent risk-reducing salpingo-oophorectomy (RRSO).

Methods

This prospective study examined the rate of occult cancer and primary peritoneal cancer after RRSO at our institution in the period from 2011 to 2020. Clinical records of genetically confirmed patients with germline pathogenic BRCA1/2 variants who desired to undergo RRSO were reviewed. Specimens obtained during RRSO were pathologically diagnosed as per SEE-FIM protocol. All the participants underwent magnetic resonance imaging (MRI) about 1 month preoperatively.

Results

One hundred and seventeen women underwent RRSO during this period. Of these, the numbers of women with germline pathogenic BRCA1 and BRCA2 variants were 72 and 45, respectively. The mean observational time after RRSO was 35.8 months. Despite negative preoperative screening results, three (2.6%) serous tubal intraepithelial carcinoma and three (2.6%) invasive carcinomas were identified. Of the three invasive carcinomas cases, two were International Federation of Gynecology and Obstetrics (FIGO) stage I primary fallopian tube cancer, and the third case was double cancer (ovarian cancer and fallopian tube cancer) with FIGO stage IC3.

Conclusions

The rate of occult neoplasms was similar to those reported by studies performed in other countries. Although women with occult cancer were diagnosed with FIGO stage I, the MRI performed 1 month preoperatively did not show any such malignant findings. Thus, RRSO is the only promising method that can improve the prognosis in women with germline pathogenic BRCA1/2 variants.

中文翻译：

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日本遗传性乳腺癌和卵巢癌女性输卵管卵巢切除术风险降低的临床和病理结果

背景

阐明接受降低风险输卵管卵巢切除术 (RRSO) 的具有生殖系致病性BRCA1/2变异的日本女性的临床和病理结果。

方法

这项前瞻性研究检查了 2011 年至 2020 年期间在我们机构进行 RRSO 后隐匿性癌症和原发性腹膜癌的发生率。回顾了希望接受 RRSO的遗传证实的具有生殖系致病性BRCA1/2变异的患者的临床记录。根据 SEE-FIM 协议对 RRSO 期间获得的标本进行病理诊断。所有参与者在术前约 1 个月接受了磁共振成像（MRI）检查。

结果

在此期间，有 117 名女性接受了 RRSO。其中，具有生殖系致病性BRCA1和BRCA2变异的女性人数分别为 72 和 45。RRSO 后的平均观察时间为 35.8 个月。尽管术前筛查结果为阴性，但仍确定了三个（2.6%）浆液性输卵管上皮内癌和三个（2.6%）浸润性癌。3例浸润癌病例中，2例为国际妇产科联合会（FIGO）I期原发性输卵管癌，第3例为FIGO分期IC3的双癌（卵巢癌和输卵管癌）。

结论

隐匿性肿瘤的发生率与其他国家研究报告的相似。尽管患有隐匿性癌症的女性被诊断为FIGO I期，但术前1个月进行的MRI未显示任何此类恶性发现。因此，RRSO 是唯一可以改善具有生殖系致病性BRCA1/2变异的女性预后的有前景的方法。