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英国结直肠癌患者未得到关于林奇综合征的充分评估。

UK colorectal cancer patients are inadequately assessed for Lynch syndrome.

作者信息

Adelson Maria, Pannick Samuel, East James E, Risby Peter, Dawson Peter, Monahan Kevin J

机构信息

Family History of Bowel Cancer Clinic, Department of Gastroenterology, West Middlesex University Hospital, London, UK.

Department of Gastroenterology, Family History of Bowel Cancer Clinic, West Middlesex University Hospital, London, UK.

出版信息

Frontline Gastroenterol. 2014 Jan;5(1):31-35. doi: 10.1136/flgastro-2013-100345. Epub 2013 Aug 6.

Abstract

OBJECTIVE

To establish whether colorectal cancer patients in two centres in the UK are screened appropriately for Lynch syndrome, in accordance with current international guidance.

DESIGN

Patients newly diagnosed with colorectal cancer over an 18-month period were identified from the UK National Bowel Cancer Audit Programme. Their records and management were reviewed retrospectively.

SETTING

Two university teaching hospitals, Imperial College Healthcare and Oxford Radcliffe Hospitals NHS Trusts.

OUTCOMES MEASURED

Whether patients were screened for Lynch syndrome-and the outcome of that evaluation, if it took place-were assessed from patients' clinical records. The age, tumour location and family history of screened patients were compared to those of unscreened patients.

RESULTS

Five hundred and fifty three patients with newly diagnosed colorectal cancer were identified. Of these, 97 (17.5%) satisfied the revised Bethesda criteria, and should have undergone further assessment. There was no evidence that those guidelines had been contemporaneously applied to any patient. In practice, only 22 of the 97 (22.7%) eligible patients underwent evaluation. The results for 14 of those 22 (63.6%) supported a diagnosis of Lynch syndrome, but only nine of the 14 (64.3%) were referred for formal mismatch repair gene testing. No factors reliably predicted whether or not a patient would undergo Lynch syndrome screening.

CONCLUSIONS

Colorectal teams in the UK do not follow international guidance identifying the patients who should be screened for Lynch syndrome. Patients and their families are consequently excluded from programmes reducing colorectal cancer incidence and mortality. Multidisciplinary teams should work with their local genetics services to develop reliable algorithms for patient screening and referral.

摘要

目的

根据当前国际指南,确定英国两个中心的结直肠癌患者是否接受了针对林奇综合征的适当筛查。

设计

从英国国家肠癌审计计划中识别出在18个月期间新诊断为结直肠癌的患者。对他们的记录和管理进行回顾性审查。

背景

两家大学教学医院,帝国理工学院医疗保健医院和牛津拉德克利夫医院国民保健服务信托基金。

测量指标

从患者的临床记录中评估患者是否接受了林奇综合征筛查,以及该评估的结果(如果进行了评估)。将接受筛查患者的年龄、肿瘤位置和家族史与未接受筛查患者的进行比较。

结果

共识别出553例新诊断为结直肠癌的患者。其中,97例(17.5%)符合修订后的贝塞斯达标准,应接受进一步评估。没有证据表明这些指南已同时应用于任何患者。实际上,97例符合条件的患者中只有22例(22.7%)接受了评估。这22例患者中有14例(63.6%)的结果支持林奇综合征的诊断,但这14例中只有9例(64.3%)被转诊进行正式的错配修复基因检测。没有任何因素能可靠地预测患者是否会接受林奇综合征筛查。

结论

英国的结直肠癌诊疗团队未遵循国际指南来确定哪些患者应接受林奇综合征筛查。患者及其家属因此被排除在降低结直肠癌发病率和死亡率的项目之外。多学科团队应与当地遗传学服务机构合作,制定可靠的患者筛查和转诊算法。

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Underdiagnosis of Lynch syndrome involves more than family history criteria.林奇综合征的漏诊不仅涉及家族史标准。
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