Lessons learnt from the implementation of a colorectal cancer screening programme for lynch syndrome in a tertiary public hospital |
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| Institution: | 1. Hereditary Cancer Program, Catalan Institute of Oncology-IDIBELL, ONCOBELL, Hospitalet de Llobregat, 08908 Barcelona, Spain;2. Biomedical Research Centre Network for Oncology (CIBERONC), Instituto Salud Carlos III, 28029 Madrid, Spain;3. Hereditary Cancer Program, Catalan Institute of Oncology, Badalona 08916, Barcelona, Spain;4. Department of Pathology, Bellvitge University Hospital, Hospitalet de Llobregat, 08907 Barcelona, Spain;5. Department of Gastroenterology, Bellvitge University Hospital, Hospitalet de Llobregat, 08907 Barcelona, Spain;6. Department of General Surgery, Bellvitge University Hospital, Hospitalet de Llobregat, 08907 Barcelona, Spain;7. Colorectal Cancer Multidisciplinary Board, Catalan Institute of Oncology, Hospitalet de Llobregat, 08908 Barcelona, Spain;8. Colorectal Cancer Multidisciplinary Board, Bellvitge University Hospital, Hospitalet de Llobregat, 08907 Barcelona, Spain;9. Department of Medical Oncology, Catalan Institute of Oncology, Hospitalet de Llobregat, 08908 Barcelona, Spain;10. Bellvitge Health Sciences Campus, University of Barcelona, Hospitalet de Llobregat, 08908 Barcelona, Spain;11. Department of Radiation Oncology, Catalan Institute of Oncology, Hospitalet de Llobregat, 08908 Barcelona, Spain;12. Hereditary Cancer Program, Catalan Institute of Oncology-IDIBGI, OncoGir-Pro, 17007 Girona, Spain;1. Department of Surgery, Flinders University, Adelaide, Australia;2. Department of Urology, Austin Health, Melbourne, Australia;3. Urology Unit, Flinders Medical Centre, Adelaide, Australia;4. Flinders Health and Medical Research Institute, Flinders University, Adelaide, Australia;5. Discipline of Medicine, University of Adelaide, Adelaide, Australia;1. Belgian Cancer Registry, 1210 Brussels, Belgium;2. Family Medicine and Population Health, Department of Epidemiology and Social Medicine, University of Antwerp, 2000 Antwerp, Belgium;3. Centre for Cancer Detection, 8000 Bruges, Belgium;4. Vrije Universiteit Brussel, 1090 Brussels, Belgium;5. University Hospital Leuven, Campus Sint Rafael, 3000 Leuven, Belgium;6. Agency for Care and Health, Flemish Government, 1030 Brussels, Belgium;7. Christian Health Insurance Fund, 1031 Brussels, Belgium;8. Department of Public Health and Primary Care, Environment and Health, KU Leuven, 3000 Leuven, Belgium;9. Radboud University Medical Center, Radboud Institute for Health Sciences, Nijmegen, the Netherlands;1. Department of Digestive Internal Medicine, the First Affiliated Hospital of Xi’an Jiaotong University, Xi’an, Shaanxi 710061, China;2. Department of Digestive Internal Medicine, Xi’an Fifth Hospital, Xi’an 710082, China;3. Department of First Internal Medicine, Shaanxi Province Cancer Hospital, Xi’an 710061, China;4. Department of Pathology, Xi’an Jiaotong University Health Science Center, Xi’an 710061, China;5. Department of Sixth Internal Medicine, Shaanxi Province Cancer Hospital, Xi’an 710061, China;1. Research Unit for General Practice, Aarhus, Bartholins Alle 2, 8000 Aarhus C, Denmark;2. Department of Clinical Medicine, Aarhus University, Palle Juul-Jensens Boulevard 82, 8200 Aarhus C, Denmark;1. Max Planck Institute for Demographic Research, Rostock, Germany;2. School of Public Health, Chongqing Medical University, Chongqing, China;3. Department of Medical Sciences, University of Turin, Turin, Italy;4. Population Research Unit, Faculty of Social Sciences, University of Helsinki, Helsinki, Finland;1. Department of Radiation Oncology, Miami Cancer Institute, Baptist Health South Florida, Miami, FL, USA;2. Office of Clinical Research, Miami Cancer Institute, Baptist Health South Florida, Miami, FL 33176, USA;3. Department of Radiation Oncology, Herbert Wertheim College of Medicine, Florida International University, Miami, FL 33199 USA;4. Department of Translational Medicine, Herbert Wertheim College of Medicine, Florida International University, Miami, FL 33199 USA |
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| Abstract: | BackgroundLynch syndrome (LS) is the first cause of inherited colorectal cancer (CRC), being responsible for 2–4% of all diagnoses. Identification of affected individuals is important as they have an increased lifetime risk of multiple CRC and other neoplasms, however, LS is consistently underdiagnosed at the population level. We aimed to evaluate the yield of LS screening in CRC in a single-referral centre and to identify the barriers to its effective implementation.MethodsLS screening programme included individuals with CRC < 70 years, multiple CRC, or endometrial cancer at any age. Mismatch repair (MMR) protein immunohistochemistry (IHC) analysis was performed in routine practice on the surgical specimen and, if MLH1 IHC was altered, MLH1 gene promoter methylation was analysed. Results were collected in the CRC multidisciplinary board database. LS suspected individuals (altered MMR IHC without MLH1 promoter methylation) were referred to the Cancer Genetic Counselling Unit (CGCU). If accepted, a genetic study was performed. Two checkpoints were included: review of the pathology data and verification of patient referral by a genetic counsellor.ResultsBetween 2016 and 2019, 381 individuals were included. MMR IHC analysis was performed in 374/381 (98.2 %) CRC cases and MLH1 promoter methylation in 18/21 (85.7 %). Seventeen of the 20 LS suspected individuals were invited for referral at the CGCU. Two cases were not invited and the remaining patient died of cancer before completion of tumour screening. Fifteen individuals attended and a genetic analysis was performed in 15/20 (75 %) LS suspected individuals. Ten individuals were diagnosed with LS, in concordance with the IHC profile (2.7 % of the total cohort). This led to cascade testing in 58/75 (77.3 %) of the available adult relatives at risk, identifying 26 individuals with LS.ConclusionsEstablishing a standardized institutional LS screening programme with checkpoints in the workflow is key to increasing the yield of LS identification. |
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| Keywords: | Colorectal cancer Effectiveness Programme evaluation Lynch syndrome Screening programme |
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