Department of Gastrointestinal Surgery, Helsinki University Central Hospital, University of Helsinki, Helsinki, Finland; Department of Surgical Oncology, Johns Hopkins Hospital, Baltimore, MD, USA; The International Society for Gastrointestinal Hereditary Tumours (InSiGHT), The Polyposis Registry, St Mark's Hospital, Watford Road, Harrow, Middlesex, HA1 3UJ, UK; European Hereditary Tumour Group (EHTG), C/o Lindsays, Caledonian Exchange, 19A Canning Street, Edinburgh, EH3 8HE, United Kingdom.
Department of Tumor Biology, Institute of Cancer Research, The Norwegian Radium Hospital, Oslo, Norway; The International Society for Gastrointestinal Hereditary Tumours (InSiGHT), The Polyposis Registry, St Mark's Hospital, Watford Road, Harrow, Middlesex, HA1 3UJ, UK; European Hereditary Tumour Group (EHTG), C/o Lindsays, Caledonian Exchange, 19A Canning Street, Edinburgh, EH3 8HE, United Kingdom.
Eur J Cancer. 2021 May;148:124-133. doi: 10.1016/j.ejca.2021.02.022. Epub 2021 Mar 17.
This study aimed to report the uptake of hysterectomy and/or bilateral salpingo-oophorectomy (BSO) to prevent gynaecological cancers (risk-reducing surgery [RRS]) in carriers of pathogenic MMR (path_MMR) variants.
The Prospective Lynch Syndrome Database (PLSD) was used to investigate RRS by a cross-sectional study in 2292 female path_MMR carriers aged 30-69 years.
Overall, 144, 79, and 517 carriers underwent risk-reducing hysterectomy, BSO, or both combined, respectively. Two-thirds of procedures before 50 years of age were combined hysterectomy and BSO, and 81% of all procedures included BSO. Risk-reducing hysterectomy was performed before age 50 years in 28%, 25%, 15%, and 9%, and BSO in 26%, 25%, 14% and 13% of path_MLH1, path_MSH2, path_MSH6, and path_PMS2 carriers, respectively. Before 50 years of age, 107 of 188 (57%) BSO and 126 of 204 (62%) hysterectomies were performed in women without any prior cancer, and only 5% (20/392) were performed simultaneously with colorectal cancer (CRC) surgery.
Uptake of RRS before 50 years of age was low, and RRS was rarely undertaken in association with surgical treatment of CRC. Uptake of RRS aligned poorly with gene- and age-associated risk estimates for endometrial or ovarian cancer that were published recently from PLSD and did not correspond well with current clinical guidelines. The reasons should be clarified. Decision-making on opting for or against RRS and its timing should be better aligned with predicted risk and mortality for endometrial and ovarian cancer in Lynch syndrome to improve outcomes.
本研究旨在报告携带致病性 MMR(path_MMR)变异体的女性接受子宫切除术和/或双侧输卵管卵巢切除术(BSO)以预防妇科癌症(风险降低手术 [RRS])的情况。
使用前瞻性 Lynch 综合征数据库(PLSD),通过对 2292 名年龄在 30-69 岁的 path_MMR 携带者进行横断面研究,调查 RRS。
总体而言,分别有 144、79 和 517 名携带者接受了风险降低的子宫切除术、BSO 或两者联合手术。在 50 岁之前进行的手术有三分之二是子宫切除术和 BSO 联合进行的,所有手术中有 81% 包括 BSO。28%、25%、15%和 9% 的 path_MLH1、path_MSH2、path_MSH6 和 path_PMS2 携带者分别在 50 岁之前接受了风险降低的子宫切除术,26%、25%、14%和 13% 的携带者接受了 BSO。在 50 岁之前,在没有任何先前癌症的 188 名 BSO 中的 107 名和 204 名子宫切除术患者中的 126 名接受了手术,只有 5%(20/392)是与结直肠癌(CRC)手术同时进行的。
50 岁之前 RRS 的采用率较低,并且很少将 RRS 与 CRC 的手术治疗联合进行。RRS 的采用与最近来自 PLSD 的基因和年龄相关的子宫内膜或卵巢癌风险估计不一致,也与当前的临床指南不一致。原因应予以澄清。选择 RRS 的决定及其时间应更好地与 Lynch 综合征中子宫内膜癌和卵巢癌的预测风险和死亡率保持一致,以改善结果。