HNPCC-Register, Department of Gastroenterology and Clinical Research Centre, Copenhagen University Hospital, Hvidovre, Denmark; Department of Gynaecology and Obstetrics, OUH - Odense University Hospital, Denmark.
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, Denmark.
Gynecol Oncol. 2014 Jun;133(3):526-30. doi: 10.1016/j.ygyno.2014.03.012. Epub 2014 Mar 13.
We aimed to estimate the incidence rate of endometrial cancer (EC) and to evaluate the results of EC-surveillance in hereditary nonpolyposis colorectal cancer (HNPCC) families.
All at-risk women recommended for EC-surveillance by the HNPCC-register-2959 women (19,334women years)-were included. Data on EC-surveillance were available for 871 women (6894women years), who had performed 1945 surveillance visits. The average surveillance period was 7.9 (range 0.1-21.7) years and 46% of the women had had less than 3years between their visits.
During 19,334women years, 60 women with gynecological malignancies or premalignancies were diagnosed. Thirty-nine women had EC. Of these, 31 were from families with identified MMR gene mutations with the median age at diagnosis of 54 (39-83) years (Incidence Rate, IR=0.63 per 100women years) and four women from each Amsterdam (AMS)-positive and AMS-like families (median age 64 (55-73) years, IR=0.06 and 0.05 per 100women years, respectively, p<.0001). Among the 871 surveilled women, 13 EC were found: 7/13 cases were diagnosed by surveillance examination-two as prevalent cancers, diagnosed at the first visit-and 6/13 based on symptoms. In addition, five complex atypical hyperplasias and four ovarian cancers (OCs) were diagnosed. All these women were MMR mutation carriers.
Based on 19,334women years of EC-surveillance, our analysis provides a thorough estimation of the EC risk in women with an MMR mutation, or suspected of having Lynch syndrome. We conclude that EC surveillance should only be targeted at MMR-mutation carriers.
我们旨在评估子宫内膜癌（EC）的发病率，并评估遗传性非息肉病性结直肠癌（HNPCC）家族中 EC 监测的结果。
所有符合 HNPCC-register-2959 建议进行 EC 监测的高危女性（19334 名女性年）均被纳入研究。共有 871 名女性（6894 名女性年）可提供 EC 监测数据，她们进行了 1945 次监测访问。平均监测期为 7.9 年（范围 0.1-21.7 年），46%的女性两次就诊之间的时间少于 3 年。
在 19334 名女性年中，诊断出 60 名患有妇科恶性肿瘤或癌前病变的女性。其中 39 名女性患有 EC。这些患者中，有 31 名来自已确定的 MMR 基因突变的家族，诊断时的中位年龄为 54（39-83）岁（发病率，IR=0.63/100 名女性年），另外 4 名来自每个阿姆斯特丹（AMS）阳性和 AMS 样家族（中位年龄分别为 64（55-73）岁，IR=0.06 和 0.05/100 名女性年，p<.0001）。在 871 名接受监测的女性中，发现 13 例 EC：7/13 例是通过监测检查发现的，其中 2 例为普遍癌症，在首次就诊时发现，6/13 例是基于症状发现的。此外，还诊断出 5 例复杂不典型增生和 4 例卵巢癌（OC）。所有这些女性均为 MMR 基因突变携带者。
根据 19334 名女性年的 EC 监测分析，我们对 MMR 基因突变或疑似林奇综合征的女性的 EC 风险进行了全面评估。我们的结论是，仅应针对 MMR 基因突变携带者进行 EC 监测。
