Mismatch in testing: a retrospective analysis of mismatch repair testing in endometrial cancer and Lynch syndrome diagnosis in multiple specialist centres in the UK and Ireland (March 2022-March 2023).
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Ryan Neil, Lennie Kane Alexander, Naskretski Adam, Anderson Craig, Mihaita Lorena, Abeysuriya Sanduni, Ashworth Maria, Cullimore Victoria, Dobson Lucy, Graham Nathan, Graham Radha, Haran Shaun, Holwek Zuzanna, Hunt Ashton, Johnston Ben, Karkia Rebecca, Kouklidis Georgios, Leung Elaine, McCormick Aiste, McMullan Josh, Mohan Aileen, Montgomery Alison, Newton Claire, Nikolopoulos Manolis, Norden Catriona, Nott Charlotte, Owens Gemma, Rolland Phillip, Ricketts Sammuel, Sivalingam Vanitha, Smith David, Tesfai Freweini, Tookman Laura, Whacha Chenai, Sanderson Peter
Аннотация
METHODS AND ANALYSIS: A multi-centre, cross-sectional retrospective study conducted in line with STROBE (Strengthening the Reporting of Observational Studies in Epidemiology) guidelines. Secondary care cancer centres across the UK and Republic of Ireland were identified with support from the ARGO (Audit and Research in Gynaecological Oncology) Collaborative and invited to complete a bespoke data collection tool.
RESULTS: Data from 2716 histologically confirmed EC cases treated between March 2022 and March 2023 were collected. After excluding misdiagnosed and inconsistent cases, 2549 were analysed. The cohort had a mean age of 66.3 years and a mean body mass index of 33.43 kg/m²; 69.3% had endometrioid EC histology. MMR testing was performed in 91% of cases, with 27.6% classified as MMR deficient, mainly due to MLH1/PMS2 loss (77.4%). Of the 510 cases requiring hypermethylation analysis, results were missing for 62. Of the 181 participants eligible for genetic counselling, 64% were referred and 48% underwent germline testing, identifying 19 new Lynch syndrome cases. MMR-deficient tumours were diagnosed at earlier stages and lower grades compared with MMR-proficient tumours.
CONCLUSIONS: While tumour based MMR testing is widely performed, diagnostic attrition significantly impairs the pathway to definitive Lynch syndrome diagnosis. Addressing barriers to genetic counselling and germline testing is crucial for improving patient outcomes and the cost-effectiveness of Lynch syndrome screening.