目的:探讨无症状携带者种系同源重组修复(HRR)基因致病/可能致病变异(PV/LPV)的临床病理结果和降低风险输卵管卵巢切除术(RRSO)的发生率。
方法:这项回顾性研究纳入了2006年至2022年在韩国国家癌症中心接受RRSO治疗的生殖系HR基因PV/LPV无症状携带者。临床特征,包括乳腺癌病史,卵巢癌/乳腺癌家族史,奇偶校验,和口服避孕药的使用,进行了分析。
结果:在接受RRSO的255名女性中,BRCA1中有129例(50.6%)患有PV/LPV,BRCA2中有121例(47.5%),BRCA1和BRCA2PV/LPV均有2例(0.7%)。此外,RAD51D中的1个携带PV/LPV,和2在BRIP1。在BRCA1/2PV/LPV运营商中,在3.5%的患者中发现隐匿性肿瘤:浆液性输卵管上皮内癌(1.1%,n=3),输卵管癌(0.8%,n=2),卵巢癌(1.2%,n=3),和乳腺癌(0.4%,n=1)。在9例隐匿性肿瘤患者中,从178例乳腺癌患者中发现5例(2.0%),在65例健康突变携带者中检测到4例(1.6%)。在36.7个月的中位随访期内(四分位数间距,25.9-71.4),30.1个月后,1名(0.4%)BRCA1PV携带者在RRSO无前体病变发展为原发性腹膜癌。
结论:患有HRR基因突变的女性接受RRSO治疗的PV/LPV有发现隐匿性肿瘤的风险,a为3.5%。即使在RRSO期间没有前兆病变,有腹膜癌发展的累积风险,强调继续监测的必要性。
OBJECTIVE: To investigate the prevalence of pathological findings and clinical outcomes of risk-reducing salpingo-oophorectomy (RRSO) in asymptomatic carriers with germline homologous recombination repair (HRR) gene pathogenic/likely pathogenic variants (PV/LPV).
METHODS: This retrospective study enrolled asymptomatic carriers with germline HR gene PV/LPV who underwent RRSO between 2006 and 2022 at the National Cancer Center in Korea. Clinical characteristics, including history of breast cancer, family history of ovarian/breast cancer, parity, and oral contraceptive use, were analyzed.
RESULTS: Of the 255 women who underwent RRSO, 129 (50.6%) had PV/LPV in BRCA1, 121 (47.5%) in BRCA2, and 2 (0.7%) had both BRCA1 and BRCA2 PV/LPV. In addition, 1 carried PV/LPV in RAD51D, and 2 in BRIP1. Among the BRCA1/2 PV/LPV carriers, occult neoplasms were identified in 3.5% of patients: serous tubal intraepithelial carcinoma (1.1%, n=3), fallopian tubal cancers (0.8%, n=2), ovarian cancer (1.2%, n=3), and breast cancer (0.4%, n=1). Of the 9 patients with occult neoplasms, 5 (2.0%) were identified from the 178 breast cancer patients, and 4 (1.6%) were detected in 65 healthy mutation carriers. During the median follow-up period of 36.7 months (interquartile range, 25.9-71.4), 1 (0.4%) BRCA1 PV carrier with no precursor lesions at RRSO developed primary peritoneal carcinomatosis after 30.1 months.
CONCLUSIONS: Women with HRR gene mutations PV/LPV who undergo RRSO are at a risk of detecting occult neoplasms, with a of 3.5%. Even in the absence of precursor lesions during RRSO, there was a cumulative risk of peritoneal carcinomatosis development, emphasizing the need for continued surveillance.