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BRCA1/BRCA2 基因突变携带者预防性卵巢切除术的临床结局及随访期间的事件

Clinical outcome of prophylactic oophorectomy in BRCA1/BRCA2 mutation carriers and events during follow-up.

作者信息

Olivier R I, van Beurden M, Lubsen M A C, Rookus M A, Mooij T M, van de Vijver M J, van't Veer L J

机构信息

Department of Gynaecology, The Netherlands Cancer Institute/Antoni van Leeuwenhoek Hospital, Plesmanlaan 121, 1066 CX Amsterdam, The Netherlands.

出版信息

Br J Cancer. 2004 Apr 19;90(8):1492-7. doi: 10.1038/sj.bjc.6601692.

Abstract

A retrospective study was performed to assess the histopathologic findings in high-risk women undergoing bilateral prophylactic (salpingo)-oophorectomy. The medical files of BRCA1 or BRCA2 mutation carriers and members of a hereditary breast/ovarian cancer (HBOC) family, who had undergone prophylactic surgery, were reviewed. In all, 38 women underwent a bilateral oophorectomy (26 BRCA1, three BRCA2 and nine HBOC, respectively). A total of 90 women underwent bilateral salpingo-oophorectomy (58 BRCA1, six BRCA2, one BRCA1 and 2, 25 HBOC, respectively). At the time of salpingo-oophorectomy, five of 58 BRCA1 carriers (8.6%) were diagnosed with an occult carcinoma: two fallopian tube carcinomas, two ovarian carcinomas and one case was defined as a fallopian tube/ovarian carcinoma. No occult carcinomas were found in the other groups. Of the 38 patients, who underwent a bilateral oophorectomy (mean follow-up 45 months), three of 26 BRCA1 mutation carriers (3.4 in 100 women-years) developed peritoneal papillary serous carcinoma (PPSC) during follow-up. So far, no PPSC have occurred in the 90 women, who underwent a salpingo-oophorectomy (mean follow-up 12 months), including 58 BRCA1 carriers (0 in 60 in women-years). These results contribute to the thesis that BRCA1 germline mutation carriers are not only at risk for ovarian cancer, but also for fallopian tube carcinoma and peritoneal papillary serous carcinoma. Our data suggest that PPSC risk among BRCA2 carriers is lower than among BRCA1 carriers.

摘要

进行了一项回顾性研究,以评估接受双侧预防性(输卵管)卵巢切除术的高危女性的组织病理学结果。对接受预防性手术的BRCA1或BRCA2突变携带者以及遗传性乳腺癌/卵巢癌(HBOC)家族成员的医疗档案进行了审查。共有38名女性接受了双侧卵巢切除术(分别为26名BRCA1、3名BRCA2和9名HBOC)。共有90名女性接受了双侧输卵管卵巢切除术(分别为58名BRCA1、6名BRCA2、1名BRCA1和2、25名HBOC)。在进行输卵管卵巢切除术时,58名BRCA1携带者中有5名(8.6%)被诊断患有隐匿性癌:2例输卵管癌、2例卵巢癌,1例被定义为输卵管/卵巢癌。其他组未发现隐匿性癌。在接受双侧卵巢切除术的38例患者中(平均随访45个月),26名BRCA1突变携带者中有3名(每100人年3.4例)在随访期间发生了腹膜乳头状浆液性癌(PPSC)。到目前为止,在接受输卵管卵巢切除术的90名女性中(平均随访12个月),包括58名BRCA1携带者(每60人年0例),尚未发生PPSC。这些结果支持了这样的论点,即BRCA1种系突变携带者不仅有患卵巢癌的风险,而且有患输卵管癌和腹膜乳头状浆液性癌的风险。我们的数据表明,BRCA2携带者中PPSC的风险低于BRCA1携带者。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8625/2409718/60880dd23fda/90-6601692f1.jpg

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