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Experience of the implementation and outcomes of universal testing for Lynch syndrome in the United Kingdom

机译：的实现和结果的经验通用测试的林奇综合症联合王国

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Aim Colorectal cancer (CRC) is diagnosed in approximately 45 000 people annually in the UK, and it is estimated that Lynch syndrome (LS) accounts for 3.1% of these cases. In February 2017, National Institute for Health and Care Excellence (NICE guideline DG27 recommended universal testing of new cases of CRC for mismatch repair (MMR) status. The aim of this study was to implement universal testing for LS in CRC patients in a secondary care setting. Method We prospectively collected data on consecutive newly diagnosed CRC patients at our centre from November 2016 to August 2018, including evidence of MMR status determined by immunohistochemistry. We recorded clinicopathological data including age at diagnosis, stage, tumour site, reported histological findings and MMR tumour status. Statistical analysis was performed using the chi-square test and the two-tailed t-test for binary and continuous variables, respectively. Results A cohort of 203 consecutive patients were diagnosed with CRC during this period. Universal MMR testing was performed for the 198 CRC patients in whom a diagnosis of adenocarcinoma was confirmed, with colonoscopic biopsy used as the source material in 68.6% of cases. Twenty-three CRCs (11.6%) were MMR deficient (dMMR). Most dMMR CRCs (21/23) were early stage tumours (Dukes A or B, P = 0.002). In 39 Dukes B CRCs in patients under 70 years of age, the result of MMR testing influenced decision-making about personalized treatment with 5-fluorouracil based chemotherapy. Conclusion Our results demonstrate that universal testing of all new cases of CRC for features suggestive of LS is feasible and effective in the UK. Our data also indicate the importance of genetic testing and personalized oncological care.
机译：结直肠癌(CRC)目的是诊断在英国,每年大约45 000人据估计,林奇综合症(LS)在这些病例中占3.1%。2017年,国家健康研究所和照顾卓越(NICE指南DG27推荐通用测试CRC的新病例错配修复(MMR)状态。研究旨在为LS实现通用测试在CRC患者二级护理设置。方法前瞻性收集的数据连续新诊断的CRC患者在我们的中心从2016年11月到2018年8月,包括由MMR的证据地位免疫组织化学。临床病理的数据包括年龄肿瘤诊断、阶段,网站,报道肿瘤组织学结果和MMR的地位。使用执行统计分析卡方检验和双尾t检验二进制和连续变量,分别。结果一群203个连续的患者诊断出患有CRC在此期间。198年CRC MMR测试执行病人被诊断为腺癌证实,结肠镜检查活检作为吗在68.6%的情况下源材料。23 crc MMR不足(11.6%)(dMMR)。肿瘤(公爵A或B, P = 0.002)。70岁以下的患者中crc,MMR测试影响决策的结果关于个性化与5 -氟尿嘧啶治疗为基础的化疗。证明通用测试的新CRC LS特征暗示的可行的和有效的在英国。表明基因检测的重要性,个性化的肿瘤治疗。

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