Department of Gynecology, Cancer Institute Hospital, Japanese Foundation for Cancer Research, Ariake 3-8-31, Koto City, Tokyo, 135-8550, Japan.
Department of Clinical Genetics, Cancer Institute Hospital, Japanese Foundation for Cancer Research, Ariake 3-8-31, Koto City, Tokyo, Japan.
Int J Clin Oncol. 2021 Dec;26(12):2331-2337. doi: 10.1007/s10147-021-02020-9. Epub 2021 Aug 28.
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).
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.
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.
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.
阐明日本携带种系致病性 BRCA1/2 变异的女性接受预防性输卵管-卵巢切除术(RRSO)后的临床和病理结局。
本前瞻性研究检查了我们机构在 2011 年至 2020 年期间 RRSO 后隐匿性癌症和原发性腹膜癌的发生率。回顾了有意愿接受 RRSO 的携带种系致病性 BRCA1/2 变异的基因确诊患者的临床记录。RRSO 获得的标本按照 SEE-FIM 方案进行病理诊断。所有参与者均在术前 1 个月接受磁共振成像(MRI)检查。
在此期间,有 117 名女性接受了 RRSO。其中,BRCA1 和 BRCA2 种系致病性变异的女性数量分别为 72 名和 45 名。RRSO 后平均观察时间为 35.8 个月。尽管术前筛查结果为阴性,但仍发现 3 例(2.6%)浆液性输卵管上皮内癌和 3 例(2.6%)浸润性癌。在 3 例浸润性癌中,2 例为国际妇产科联合会(FIGO)分期 I 原发性输卵管癌,第 3 例为双癌(卵巢癌和输卵管癌),FIGO 分期 IC3。
隐匿性肿瘤的发生率与其他国家报道的研究相似。尽管隐匿性癌症患者被诊断为 FIGO 分期 I,但术前 1 个月进行的 MRI 未显示任何恶性发现。因此,RRSO 是唯一有望改善携带种系致病性 BRCA1/2 变异的女性预后的方法。