研究动态
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同源重组修复基因突变无症状携带者进行降低风险输卵管卵巢切除术的病理和临床结果。

The pathologic and clinical outcomes of risk-reducing salpingo-oophorectomy in asymptomatic carriers of homologous recombination repair gene mutation.

发表日期:2024 Jul 05
作者: Yeon Jee Lee, Ji Hyun Kim, Youn Jee Kim, Yoon Jung Chang, Sun-Young Kong, Chong Woo Yoo, Dong Ock Lee, Sang-Soo Seo, Sokbom Kang, Sang-Yoon Park, Myong Cheol Lim
来源: Journal of Gynecologic Oncology

摘要:

旨在调查具有种系同源重组修复 (HRR) 基因致病性/可能致病性变异 (PV/LPV) 的无症状携带者中降低风险的输卵管卵巢切除术 (RRSO) 的病理结果和临床结果的患病率。这项回顾性研究纳入了无症状携带者种系HR基因PV/LPV于2006年至2022年间在韩国国家癌症中心接受了RRSO。分析了临床特征,包括乳腺癌病史、卵巢/乳腺癌家族史、产次和口服避孕药的使用情况。 在 255 名接受 RRSO 的女性中,129 名 (50.6%) 患有 BRCA1 中的 PV/LPV,121 名 (47.5 %)存在于 BRCA2 中,2 名(0.7%)同时具有 BRCA1 和 BRCA2 PV/LPV。此外,RAD51D 中有 1 个携带 PV/LPV,BRIP1 中有 2 个携带 PV/LPV。在 BRCA1/2 PV/LPV 携带者中,3.5% 的患者发现隐匿性肿瘤: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)。 9例隐匿性肿瘤患者中,178例乳腺癌患者中检出5例(2.0%),65例健康突变携带者中检出4例(1.6%)。在 36.7 个月的中位随访期间(四分位距,25.9-71.4),1 名(0.4%)BRCA1 PV 携带者在 RRSO 处无前驱病变,在 30.1 个月后发展为原发性腹膜癌病。 患有 HRR 基因突变 PV/LPV 的女性接受 RRSO 的人有检测到隐匿性肿瘤的风险,该风险为 3.5%。即使在 RRSO 期间没有出现前驱病变,腹膜癌病发展的累积风险也存在,强调需要持续监测。© 2025。亚洲妇科肿瘤学会、韩国妇科肿瘤学会和日本妇科肿瘤学会。
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).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.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.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.© 2025. Asian Society of Gynecologic Oncology, Korean Society of Gynecologic Oncology, and Japan Society of Gynecologic Oncology.