Experience of the implementation and outcomes of universal testing for Lynch syndrome in the United Kingdom
Experience of the implementation and outcomes of universal testing for Lynch syndrome in the United Kingdom
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DOI：
10.1111/codi.14597
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发表时间：
2019-07-01
影响因子：
3.4
通讯作者：
Monahan, K. J.
中科院分区：
文献类型：
--
作者：
Cavazza, A.;Radia, C.;Monahan, K. J.
目的：在英国，每年约有45000人被诊断为结直肠癌（CRC），据估计Lynch综合征（LS）占这些病例的3.1%。2017年2月，国家健康与护理卓越研究所（NICE指南DG27）建议对新发CRC病例进行错配修复（MMR）状态的普遍检测。本研究的目的是在二级医疗机构实施对CRC患者LS的普遍检测。方法前瞻性收集本中心2016年11月至2018年8月连续新诊断的结直肠癌患者的数据，包括免疫组织化学检测MMR状态的证据。我们记录了临床病理资料，包括诊断年龄、分期、肿瘤部位、报告的组织学发现和MMR肿瘤状态。对二元变量和连续变量分别采用卡方检验和双尾t检验进行统计分析。结果在此期间，连续203例患者被诊断为结直肠癌。对确诊为腺癌的198例结直肠癌患者进行了通用MMR检测，68.6%的病例使用结肠镜活检作为来源材料。23例（11.6%）是MMR缺陷（dMMR）。大多数dMMR crc（21/23）为早期肿瘤（Dukes A或B， P = 0.002）。在39例70岁以下Dukes B crc患者中，MMR检测结果影响了5-氟尿嘧啶化疗个性化治疗的决策。结论我们的研究结果表明，在英国，对所有新发CRC病例进行LS特征的普遍检测是可行和有效的。我们的数据也表明基因检测和个性化肿瘤护理的重要性。
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.