Universal screening for Lynch syndrome in endometrial cancer diagnoses in Auckland, New Zealand: The initial experience.

IF 1.4 4区 医学 Q3 OBSTETRICS & GYNECOLOGY
Silipa Lock Sam Naiqiso, Jo Moses, Ai Ling Tan, Lois Eva
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引用次数: 0

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.

Aim: 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.

Materials and 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%).

Conclusion: 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.

新西兰奥克兰子宫内膜癌诊断中林奇综合征的普遍筛查:初步经验。
背景:2017年1月,新西兰奥克兰引入了针对林奇综合征(LS)的子宫内膜癌(EC)通用错配修复免疫组化(MMR IHC)肿瘤检测。识别林奇综合征患者可使他们及其家人获得降低风险的策略。普遍的MMR IHC检测有助于EC的分子分类,并具有预后和治疗意义。目的:我们旨在确定新西兰奥克兰引入MMR检测后EC妇女中LS的发病率,以及普遍筛查对当地遗传服务的影响:这是一项回顾性临床病理学评估,对象是17年1月1日至18年12月31日期间转诊至奥克兰妇科肿瘤科的新确诊EC妇女。患者数据提取自妇科肿瘤科数据库和电子记录,并使用描述性统计进行分析:在研究期间,409 名患者被确诊为宫颈癌,其中太平洋岛民占多数(32.5%)。其中,82.6%接受了麻风腮基因IHC检测,20%为麻风腮基因缺陷(MMRd),71%存在体细胞高甲基化。与欧洲人相比,太平洋岛民患 MMRd 肿瘤的几率降低了 64%(几率比 0.36,P = 0.005)。在接受 MMR IHC 检测的患者中,5.5% 的患者被转诊到遗传诊所接受种系检测。8名患者(2.3%)确诊为LS:结论:2.3%的患者确诊为LS。结论:2.3%的患者被确诊为LS,太平洋岛民在EC组中的比例过高,但在确诊为LS的患者中并不高。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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来源期刊
CiteScore
3.40
自引率
11.80%
发文量
165
审稿时长
4-8 weeks
期刊介绍: The Australian and New Zealand Journal of Obstetrics and Gynaecology (ANZJOG) is an editorially independent publication owned by the Royal Australian and New Zealand College of Obstetricians and Gynaecologists (RANZCOG) and the RANZCOG Research foundation. ANZJOG aims to provide a medium for the publication of original contributions to clinical practice and/or research in all fields of obstetrics and gynaecology and related disciplines. Articles are peer reviewed by clinicians or researchers expert in the field of the submitted work. From time to time the journal will also publish printed abstracts from the RANZCOG Annual Scientific Meeting and meetings of relevant special interest groups, where the accepted abstracts have undergone the journals peer review acceptance process.
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