Clinical Epidemiology Unit, Faculty of Medicine, Memorial University of Newfoundland, St. John's, Newfoundland, Canada.
Clin Genet. 2013 Apr;83(4):359-64. doi: 10.1111/j.1399-0004.2012.01929.x. Epub 2012 Aug 7.
Lifetime risk of developing endometrial cancer in Lynch syndrome carriers is very high and females are also at an increased risk of developing ovarian cancer. The aim of the study was to determine the impact of gynecological screening in MSH2 mutation carriers. Gynecological cancer incidence and overall survival was compared in female mutation carriers who received gynecological screening (cases) and in matched controls. Controls were randomly selected from non-screened mutation carriers who were alive and disease-free at the age the case entered the screening program. Median age to diagnosis of gynecological cancer was 54 years in the screened group compared to 56 years in controls (p = 0.50). Stage I or II cancer was diagnosed in 92% of screened patients compared to 71% in the control group (p = 0.17). Two of three deaths in the screened group were the result of ovarian cancer. Mean survival in the screened group was 79 years compared to 69 years in the control group (p = 0.11), likely associated with concomitant colonoscopy screening. Gynecological screening did not result in earlier gynecologic cancer detection and despite screening two young women died from ovarian cancer suggesting that prophylactic hysterectomy with bilateral salpingo-oophorectomy be considered in female mutation carriers who have completed childbearing.
林奇综合征携带者一生中罹患子宫内膜癌的风险非常高，女性也有更高的罹患卵巢癌的风险。本研究旨在确定妇科筛查对 MSH2 突变携带者的影响。比较了接受妇科筛查（病例组）和匹配对照（对照组）的女性突变携带者的妇科癌症发病率和总生存率。对照组是从年龄与病例进入筛查计划时相匹配的未接受筛查的、无病生存的突变携带者中随机选择的。筛查组诊断妇科癌症的中位年龄为 54 岁，而对照组为 56 岁（p = 0.50）。筛查组 92%的患者诊断为 I 期或 II 期癌症，而对照组为 71%（p = 0.17）。筛查组的 3 例死亡中有 2 例是卵巢癌导致的。筛查组的平均生存时间为 79 岁，而对照组为 69 岁（p = 0.11），可能与同时进行的结肠镜筛查有关。妇科筛查并未导致更早发现妇科癌症，尽管进行了筛查，但仍有两名年轻女性死于卵巢癌，这表明对于已完成生育的女性突变携带者，应考虑行预防性子宫切除术和双侧输卵管卵巢切除术。
