Lynch syndrome screening in colorectal and endometrial cancers in Iceland
Background and purpose: Screening for Lynch syndrome (LS) with mismatch repair (MMR) protein immunohistochemistry (IHC) in all patients with newly diagnosed colorectal (CRC) and endometrial cancer (EC) was implemented in Iceland in 2017. The aim of the study is to assess the accuracy of screening in...
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Medical Journals Sweden
2025-01-01
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| Series: | Acta Oncologica |
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| Online Access: | https://medicaljournalssweden.se/actaoncologica/article/view/41957 |
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| author | Katla R. Kluvers Thordur Tryggvason Vigdis Stefansdottir Jon G. Jonasson Petur Snaebjornsson Sigurdis Haraldsdottir |
| author_facet | Katla R. Kluvers Thordur Tryggvason Vigdis Stefansdottir Jon G. Jonasson Petur Snaebjornsson Sigurdis Haraldsdottir |
| author_sort | Katla R. Kluvers |
| collection | DOAJ |
| description | Background and purpose: Screening for Lynch syndrome (LS) with mismatch repair (MMR) protein immunohistochemistry (IHC) in all patients with newly diagnosed colorectal (CRC) and endometrial cancer (EC) was implemented in Iceland in 2017. The aim of the study is to assess the accuracy of screening in 2020–2022 and compare it to 2017–2019 when screening was initiated.
Patients/materials and methods: All patients diagnosed with CRC and EC according to the Icelandic Cancer Registry in 2020–2022 were included. Screening results were crossmatched with a genotyping database from deCODE to calculate sensitivity and specificity for LS detection.
Results: In 2020–2022, 429 of 522 (82%) diagnosed CRCs were stained and 90 of 106 (85%) ECs, compared to 74% of CRCs and 82% of ECs in 2017–2019. The screening protocol was followed in 90% of cases for CRCs and 95% of cases for ECs compared to 89% and 68% during 2017–2019. The sensitivity of IHC as a screening method for LS was 70% and specificity 88% with a positive and negative predictive value of 8.4% and 99.4%, respectively.
Interpretation: Three LS cases were missed with MMR IHC (1 MSH6 and 2 PMS2 carriers), it is possible these patients had sporadic cancers unrelated to their LS carrier status. MSH6 and PMS2 deficiency strongly predicts LS in Iceland.
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| format | Article |
| id | doaj-art-76f21a211bfc4fc79eebfc90bb7259fe |
| institution | Kabale University |
| issn | 1651-226X |
| language | English |
| publishDate | 2025-01-01 |
| publisher | Medical Journals Sweden |
| record_format | Article |
| series | Acta Oncologica |
| spelling | doaj-art-76f21a211bfc4fc79eebfc90bb7259fe2025-01-31T11:28:02ZengMedical Journals SwedenActa Oncologica1651-226X2025-01-016410.2340/1651-226X.2025.41957Lynch syndrome screening in colorectal and endometrial cancers in IcelandKatla R. Kluvers0Thordur Tryggvason1Vigdis Stefansdottir2Jon G. Jonasson3Petur Snaebjornsson4Sigurdis Haraldsdottir5University of Iceland, Faculty of Medicine, Reykjavik, IcelandDepartment of Pathology, Landspitali University Hospital of Iceland, Reykjavik, IcelandDepartment of Genetics and Molecular Medicine, Landspitali University Hospital of Iceland, Reykjavik, IcelandUniversity of Iceland, Faculty of Medicine, Reykjavik, Iceland; Department of Pathology, Landspitali University Hospital of Iceland, Reykjavik, IcelandUniversity of Iceland, Faculty of Medicine, Reykjavik, Iceland; Department of Pathology, Netherlands Cancer Institute, Amsterdam, the NetherlandsUniversity of Iceland, Faculty of Medicine, Reykjavik, Iceland; Department of Oncology, Landspitali University Hospital of Iceland, Reykjavik, IcelandBackground and purpose: Screening for Lynch syndrome (LS) with mismatch repair (MMR) protein immunohistochemistry (IHC) in all patients with newly diagnosed colorectal (CRC) and endometrial cancer (EC) was implemented in Iceland in 2017. The aim of the study is to assess the accuracy of screening in 2020–2022 and compare it to 2017–2019 when screening was initiated. Patients/materials and methods: All patients diagnosed with CRC and EC according to the Icelandic Cancer Registry in 2020–2022 were included. Screening results were crossmatched with a genotyping database from deCODE to calculate sensitivity and specificity for LS detection. Results: In 2020–2022, 429 of 522 (82%) diagnosed CRCs were stained and 90 of 106 (85%) ECs, compared to 74% of CRCs and 82% of ECs in 2017–2019. The screening protocol was followed in 90% of cases for CRCs and 95% of cases for ECs compared to 89% and 68% during 2017–2019. The sensitivity of IHC as a screening method for LS was 70% and specificity 88% with a positive and negative predictive value of 8.4% and 99.4%, respectively. Interpretation: Three LS cases were missed with MMR IHC (1 MSH6 and 2 PMS2 carriers), it is possible these patients had sporadic cancers unrelated to their LS carrier status. MSH6 and PMS2 deficiency strongly predicts LS in Iceland. https://medicaljournalssweden.se/actaoncologica/article/view/41957Lynch syndromeCancer geneticsMismatch repair deficiencyFounder variantMMR immunohistochemistry |
| spellingShingle | Katla R. Kluvers Thordur Tryggvason Vigdis Stefansdottir Jon G. Jonasson Petur Snaebjornsson Sigurdis Haraldsdottir Lynch syndrome screening in colorectal and endometrial cancers in Iceland Acta Oncologica Lynch syndrome Cancer genetics Mismatch repair deficiency Founder variant MMR immunohistochemistry |
| title | Lynch syndrome screening in colorectal and endometrial cancers in Iceland |
| title_full | Lynch syndrome screening in colorectal and endometrial cancers in Iceland |
| title_fullStr | Lynch syndrome screening in colorectal and endometrial cancers in Iceland |
| title_full_unstemmed | Lynch syndrome screening in colorectal and endometrial cancers in Iceland |
| title_short | Lynch syndrome screening in colorectal and endometrial cancers in Iceland |
| title_sort | lynch syndrome screening in colorectal and endometrial cancers in iceland |
| topic | Lynch syndrome Cancer genetics Mismatch repair deficiency Founder variant MMR immunohistochemistry |
| url | https://medicaljournalssweden.se/actaoncologica/article/view/41957 |
| work_keys_str_mv | AT katlarkluvers lynchsyndromescreeningincolorectalandendometrialcancersiniceland AT thordurtryggvason lynchsyndromescreeningincolorectalandendometrialcancersiniceland AT vigdisstefansdottir lynchsyndromescreeningincolorectalandendometrialcancersiniceland AT jongjonasson lynchsyndromescreeningincolorectalandendometrialcancersiniceland AT petursnaebjornsson lynchsyndromescreeningincolorectalandendometrialcancersiniceland AT sigurdisharaldsdottir lynchsyndromescreeningincolorectalandendometrialcancersiniceland |