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Title: The Impact of Universal Immunohistochemistry on Lynch Syndrome Diagnosis in an Australian Colorectal Cancer Cohort.
Austin Authors: Loh, Zoe ;Williams, David S ;Salmon, Lucinda ;Dow, Eryn;John, Thomas 
Affiliation: Department of Clinical Genetics, Austin Health, Heidelberg, Victoria, Australia
Department of Anatomical Pathology, Austin Health, Heidelberg, Victoria, Australia
Department of Medical Oncology, Olivia Newton-John Cancer Wellness and Research Centre, Austin Health, Heidelberg, Victoria, Australia
Issue Date: 2019
Date: 2019-01-22
Publication information: Internal Medicine Journal 2019; 49(10): 1278-1284
Abstract: Current guidelines recommend a step-wise screening algorithm for all colorectal carcinomas (CRC) to identify patients with Lynch Syndrome (LS). We describe the frequencies of mismatch repair deficiency (dMMR), BRAFV600E mutations and MLH1 methylation in resected CRCs, and evaluate the impact of universal screening on LS detection. Retrospectively, 1171 consecutive cases of resected CRC were identified between 2010 and 2017 from a large multi-centre pathology service. Testing for dMMR by immunohistochemistry (IHC) was initiated by the reporting pathologist from 2010, until universal testing was introduced in 2015. Patients with dMMR were referred to the Family Cancer Clinic (FCC) for consideration of germline mutation analysis. IHC was performed on 680 tumours, with abnormal expression in 124 (18%). Referral to FCC was made for 44 of the 88 patients with abnormal IHC (excluding those with BRAFV600E mutations). Of the 29 who attended, 16 underwent germline genetic testing, and LS was diagnosed in 7 with a germline mutation. After implementation of universal testing, there was a greater incidence of dMMR (17% vs 10%, p=0.02), rate of BRAFV600E testing (79% vs 25%, p<0.0001), and referral to FCC (61% vs 33%, p<0.0001), but no difference in FCC attendance rate (65% vs 67%, p =0.59) or new LS diagnoses (1.6% vs 0%, p=0.06). Universal IHC testing may increase the detection of LS, and should be implemented where possible. However, the full benefit was limited by low referral to and uptake of genetic testing, and further strategies are needed to overcome these barriers. This article is protected by copyright. All rights reserved.
DOI: 10.1111/imj.14230
ORCID: 0000-0002-9215-1441
Journal: Internal Medicine Journal
PubMed URL: 30667141
Type: Journal Article
Subjects: Lynch Syndrome
genetic counselling
mismatch repair
universal screening
Appears in Collections:Journal articles

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