子宫内膜癌的林奇综合征诊断测试途径：一项全国性的英国注册研究。
Lynch syndrome diagnostic testing pathways in endometrial cancers: a nationwide English registry-based study.
发表日期：2024 Oct 21
作者：
Lucy Loong, Catherine Huntley, Joanna Pethick, Fiona McRonald, Francesco Santaniello, Brian Shand, Oliver Tulloch, Shilpi Goel, Margreet Lüchtenborg, Sophie Allen, Bethany Torr, Katie Snape, Angela George, Fiona Lalloo, Gail Norbury, Diana M Eccles, Marc Tischkowitz, Antonis C Antoniou, Paul Pharoah, Adam Shaw, Eva Morris, John Burn, Kevin Monahan, Steven Hardy, Clare Turnbull
来源：
BIOMEDICINE & PHARMACOTHERAPY
摘要：
对于患有林奇综合征（LS）的女性患者来说，子宫内膜癌（EC）通常是她们的第一个癌症诊断。体细胞肿瘤检测分类和随后进行种系错配修复 (MMR) 基因检测的检测途径是识别由 LS 引起的估计 3% EC 的有效方法。一项基于全国人口的回顾性观察研究利用综合性国家数据收集进行了可通过英国国家癌症登记数据集进行功能性、体细胞和种系 MMR 测试。对于 2019 年诊断的所有 EC，检查了检测的比例、检测的中位时间、异常结果的发生率以及影响检测途径启动的因素。有 17.8%（1408/ 2019 年诊断为 EC 的患者中有 7928 名。测试的比例因癌症联盟和年龄而异。记录了 43.1% (149/346) MLH1 蛋白 IHC 缺失或 MSI 患者的 MLH1 启动子高甲基化测试。在符合肿瘤检测资格的 EC 患者中，25% (26/104) 记录了种系 MMR 检测。从癌症诊断到种系 MMR 检测的中位时间为 315 天 (IQR 222-486)。该分析强调了记录检测、患者流失、诊断 LS 的延迟和错失机会的区域差异，为衡量 LS 的影响提供了信息丰富的基线。国家健康与护理卓越研究所关于 EC 通用反射 LS 测试的国家指南，于 2020 年实施。© 作者（或其雇主）2024。CC BY 允许重复使用。英国医学杂志出版。
For female patients with Lynch syndrome (LS), endometrial cancer (EC) is often their first cancer diagnosis. A testing pathway of somatic tumour testing triage followed by germline mismatch repair (MMR) gene testing is an effective way of identifying the estimated 3% of EC caused by LS.A retrospective national population-based observational study was conducted using comprehensive national data collections of functional, somatic and germline MMR tests available via the English National Cancer Registration Dataset. For all EC diagnosed in 2019, the proportion tested, median time to test, yield of abnormal results and factors influencing testing pathway initiation were examined.There was an immunohistochemistry (IHC) or microsatellite instability (MSI) test recorded for 17.8% (1408/7928) of patients diagnosed with EC in 2019. Proportions tested varied by Cancer Alliance and age. There was an MLH1 promoter hypermethylation test recorded for 43.1% (149/346) of patients with MLH1 protein IHC loss or MSI. Of patients with EC eligible from tumour-testing, 25% (26/104) had a germline MMR test recorded. Median time from cancer diagnosis to germline MMR test was 315 days (IQR 222-486).This analysis highlights the regional variation in recorded testing, patient attrition, delays and missed opportunities to diagnose LS, providing an informative baseline for measuring the impact of the national guidance from the National Institute for Health and Care Excellence on universal reflex LS testing in EC, implemented in 2020.© Author(s) (or their employer(s)) 2024. Re-use permitted under CC BY. Published by BMJ.