Naiqiso Silipa Lock Sam, Moses Jo, Tan Ai Ling, Eva Lois
Department of Gynaecological Oncology, National Women's Health, Te Whatu Ora, Te Toka Tumai, Auckland, Aotearoa, New Zealand.
Department of Histopathology, Te Whatu Ora, Te Toka Tumai, Auckland, Aotearoa, New Zealand.
Aust N Z J Obstet Gynaecol. 2025 Feb;65(1):47-54. doi: 10.1111/ajo.13857. Epub 2024 Jul 17.
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.
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.
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.
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%).
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.
2017年1月，新西兰奥克兰引入了用于子宫内膜癌（EC）林奇综合征（LS）检测的通用错配修复免疫组化（MMR IHC）肿瘤检测。识别LS患者可使他们及其家人获得降低风险的策略。通用MMR IHC检测有助于EC的分子分类，并具有预后和治疗意义。
我们旨在确定在新西兰奥克兰引入MMR检测后EC女性中LS的发病率，以及通用筛查对当地遗传服务的影响。
这是一项对2017年1月1日至2018年12月31日转诊至奥克兰妇科肿瘤病房的新诊断为EC的女性进行的回顾性临床病理评估。患者数据从妇科肿瘤病房数据库和电子记录中提取，并使用描述性统计进行分析。
在研究期间，409例患者被诊断为EC，其中太平洋岛民比例过高（32.5%）。其中，82.6%的患者接受了MMR IHC检测，20%为错配修复缺陷（MMRd），71%存在体细胞高甲基化。与欧洲人相比，太平洋岛民群体发生MMRd肿瘤的几率降低了64%（优势比0.36，P = 0.005）。在接受MMR IHC检测的患者中，5.5%被转诊至遗传门诊进行种系检测。8例患者（2.3%）确诊为LS。
2.3%的患者被诊断为LS。EC组中太平洋岛民比例过高，但在诊断为LS的患者中并非如此。
