ObjectiveTo establish whether colorectal cancer patients in two centres in the UK are screened appropriately for Lynch syndrome, in accordance with current international guidance.DesignPatients 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.SettingTwo university teaching hospitals, Imperial College Healthcare and Oxford Radcliffe Hospitals NHS Trusts.Outcomes measuredWhether 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.ResultsFive 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.ConclusionsColorectal 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.
Introduction Hereditary non-polyposis colorectal cancer (HNPCC) causes approximately 3% of colorectal cancer cases in the UK and has signifi cant implications for screening families with multiple affected members. It is usually caused by germ-line mutations in MLH1, MSH2 and MSH6 mismatch repair genes. The revised Bethesda guidelines are designed to identify colorectal cancer patients who should have immunohistochemistry (IHC) and microsatellite instability (MSI) screening tests for HNPCC. These guidelines are designed to streamline the clinical diagnostic pathways used to identify mutation carriers in patients with colorectal cancer who might or might not fulfi l the Amsterdam II criteria, thus increasing diagnostic yield of HNPCC screening. This audit looks at the compliance with revised Bethesda guidelines to identify HNPCC families and their referral for genetic testing. Methods Patients were identifi ed from colorectal MDT Imperial College Healthcare NHS Trust from the UK National Bowel Cancer Audit Programme (NBOCAP) data over a period of 18 months up to May 2010. Pathology results were obtained for IHC and MSI testing. Patients who underwent IHC testing at St Mary's Hospital, London, and referrals to the KennedyGalton Clinical Genetics Centre were identifi ed. The number of patients whose tumours were resected was identifi ed and the histology reports reviewed. Results 336 patients discussed in colorectal MDT in Hammersmith and Charing Cross Hospitals, London were assessed according to the revised Bethesda guidelines. 18.5% of the reviewed patients satisfi ed one or more of the revised Bethesda criteria. 5% of these patients were referred to Kennedy-Galton Centre or underwent MSI testing, and none underwent IHC testing. 188 patients of assessed patients had their tumour resected. 7.4% of resected tumours had histology typical of HNPCC (tumour infi ltrating lymphocytes, Crohn's like infl ammation, Signet ring cells, medullary growth pattern). Conclusion Based on these results, there is a marked incompliance with revised Bethesda guidelines when assessing patients
scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.
customersupport@researchsolutions.com
10624 S. Eastern Ave., Ste. A-614
Henderson, NV 89052, USA
This site is protected by reCAPTCHA and the Google Privacy Policy and Terms of Service apply.
Copyright © 2025 scite LLC. All rights reserved.
Made with 💙 for researchers
Part of the Research Solutions Family.