Abstract：
BACKGROUND: Universal mismatch repair immunohistochemistry (MMR IHC) tumour testing in endometrial cancer (EC) for Lynch syndrome (LS) was introduced in Auckland, New Zealand, in January 2017. Identifying patients with LS allows them and their families to access risk reduction strategies. Universal MMR IHC testing aids in the molecular classification of EC and has prognostic and therapeutic implications.
OBJECTIVE: We aimed to determine the incidence of LS in women with EC in Auckland, New Zealand, following the introduction of MMR testing and the impact of universal screening on local genetic services.
METHODS: This is a retrospective clinicopathological evaluation of women with a new EC diagnosis referred to the Auckland Gynaecological Oncology Unit from 1/1/17 to 31/12/18. Patient data were extracted from the Gynaecological Oncology Unit database and electronic records, and analysed using descriptive statistics.
RESULTS: During the study period, 409 patients were diagnosed with EC, with an over-representation of Pacific Islanders (32.5%). Of these, 82.6% underwent MMR IHC testing, 20% were MMR-deficient (MMRd), and 71% had somatic hypermethylation. The Pacific Islander population had a 64% (odds ratio 0.36, P = 0.005) reduction in the odds of having MMRd tumours compared with Europeans. Of the patients who underwent MMR IHC testing, 5.5% were referred to a genetic clinic for germline testing. LS was confirmed in eight patients (2.3%).
CONCLUSIONS: LS was diagnosed in 2.3% of patients. There was an over-representation of Pacific Islanders in the EC group but not among those diagnosed with LS.
OBJECTIVE: We aimed to determine the incidence of LS in women with EC in Auckland, New Zealand, following the introduction of MMR testing and the impact of universal screening on local genetic services.
METHODS: This is a retrospective clinicopathological evaluation of women with a new EC diagnosis referred to the Auckland Gynaecological Oncology Unit from 1/1/17 to 31/12/18. Patient data were extracted from the Gynaecological Oncology Unit database and electronic records, and analysed using descriptive statistics.
RESULTS: During the study period, 409 patients were diagnosed with EC, with an over-representation of Pacific Islanders (32.5%). Of these, 82.6% underwent MMR IHC testing, 20% were MMR-deficient (MMRd), and 71% had somatic hypermethylation. The Pacific Islander population had a 64% (odds ratio 0.36, P = 0.005) reduction in the odds of having MMRd tumours compared with Europeans. Of the patients who underwent MMR IHC testing, 5.5% were referred to a genetic clinic for germline testing. LS was confirmed in eight patients (2.3%).
CONCLUSIONS: LS was diagnosed in 2.3% of patients. There was an over-representation of Pacific Islanders in the EC group but not among those diagnosed with LS.
摘要：
背景：奥克兰引入了子宫内膜癌（EC）治疗Lynch综合征（LS）的通用错配修复免疫组织化学（MMRIHC）肿瘤测试，新西兰,2017年1月。识别LS患者使他们及其家人能够获得降低风险的策略。通用MMRIHC测试有助于EC的分子分类，并具有预后和治疗意义。
目的：我们旨在确定奥克兰女性EC的LS发生率，新西兰,在介绍MMR测试以及普遍筛查对当地遗传服务的影响之后。
方法：这是一项回顾性的临床病理评估，对1/1/17至31/12/18的奥克兰妇科肿瘤科进行了新的EC诊断。患者数据从妇科肿瘤科数据库和电子记录中提取，并使用描述性统计分析。
结果：在研究期间，409例患者被诊断为EC，太平洋岛民的比例过高(32.5%)。其中,82.6%接受了MMRIHC检测,20%是MMR缺陷(MMRd)，71%的人有体细胞甲基化。与欧洲人相比，太平洋岛民患MMRd肿瘤的几率降低了64％（比值比0.36，P=0.005）。在接受MMRIHC检测的患者中，5.5%的人被转诊到遗传诊所进行种系测试。8例患者（2.3%）确诊为LS。
结论：在2.3%的患者中诊断为LS。在EC组中，太平洋岛民的人数过多，但在被诊断为LS的人群中却没有。
目的：我们旨在确定奥克兰女性EC的LS发生率，新西兰,在介绍MMR测试以及普遍筛查对当地遗传服务的影响之后。
方法：这是一项回顾性的临床病理评估，对1/1/17至31/12/18的奥克兰妇科肿瘤科进行了新的EC诊断。患者数据从妇科肿瘤科数据库和电子记录中提取，并使用描述性统计分析。
结果：在研究期间，409例患者被诊断为EC，太平洋岛民的比例过高(32.5%)。其中,82.6%接受了MMRIHC检测,20%是MMR缺陷(MMRd)，71%的人有体细胞甲基化。与欧洲人相比，太平洋岛民患MMRd肿瘤的几率降低了64％（比值比0.36，P=0.005）。在接受MMRIHC检测的患者中，5.5%的人被转诊到遗传诊所进行种系测试。8例患者（2.3%）确诊为LS。
结论：在2.3%的患者中诊断为LS。在EC组中，太平洋岛民的人数过多，但在被诊断为LS的人群中却没有。
