Universal Lynch Syndrome Screening in Colorectal Cancer: A 5-Year Experience of a Portuguese Pathology Department.
| Autor: | Almeida V; Pathology Department, Coimbra Hospital and University Centre.; Institute of Anatomical and Molecular Pathology, Faculty of Medicine, University of Coimbra., Veloso L; Polytechnic University of Coimbra, Escola Superior de Tecnologia e Gestão de Oliveira do Hospital, Oliveira do Hospital, Coimbra, Portugal., Teixeira P; Pathology Department, Coimbra Hospital and University Centre., Cipriano A; Pathology Department, Coimbra Hospital and University Centre. |
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| Jazyk: | angličtina |
| Zdroj: | Applied immunohistochemistry & molecular morphology : AIMM [Appl Immunohistochem Mol Morphol] 2024 Aug 01; Vol. 32 (7), pp. 350-356. Date of Electronic Publication: 2024 Aug 06. |
| DOI: | 10.1097/PAI.0000000000001212 |
| Abstrakt: | Lynch syndrome (LS) is a prevalent genetic condition associated with colorectal cancer (CRC). Accurate identification of LS patients is challenging, and a universal tumor screening approach has been recommended. We present the methodology and results of universal LS screening in our hospital's Pathology Department. This retrospective study analyzed CRC tumors from a 5-year period (2017-2021). Immunohistochemistry was used to assess MMR protein expression, followed by BRAF V600E analysis and MLH1 promoter methylation. Statistical analysis examined associations between clinicopathologic variables MMR status and LS-suspected tumors. The study analyzed 939 colorectal carcinomas, with 8.7% exhibiting mismatch repair (MMR) deficiency, significantly lower than previous research. After applying the algorithm, 24 LS-suspected cases were identified, accounting for 2.6% of tested patients and 29.3% of MMR-deficient tumors. Our study establishes the feasibility of universal testing for all new cases of CRC in detecting individuals at risk for LS, even in the absence of clinical information. To gain a comprehensive understanding of the MMR status in our population, further investigations are warranted. Competing Interests: The authors declare no conflict of interest. (Copyright © 2024 Wolters Kluwer Health, Inc. All rights reserved.) |
| Databáze: | MEDLINE |
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