Deficient mismatch repair screening of advanced adenomas in the population screening program for colorectal cancer is not effective.
Histopathology
; 84(6): 1056-1060, 2024 May.
Article
em En
| MEDLINE
| ID: mdl-38275207
ABSTRACT
AIM:
Currently, screening of colorectal cancers (CRC) by assessing mismatch repair deficiency (dMMR) or microsatellite instability (MSI) is used to identify Lynch syndrome (LS) patients. Advanced adenomas are considered immediate precursor lesions of CRC. In this study we investigate the relevance of screening of advanced adenomas for LS in population screening. METHODS ANDRESULTS:
Advanced adenomas (n = 1572) were selected from the Dutch colorectal cancer population screening programme, based on one or more of the criteria tubulovillous (n = 848, 54%) or villous adenoma (n = 118, 7.5%), diameter ≥ 1 cm (n = 1286, 82%) and/or high-grade dysplasia (n = 176, 11%). In 86 cases (5%), all three criteria were fulfilled at the same time. MMR-IHC and/or MSI analyses were performed on all cases. Only five advanced adenomas (0.3%) showed dMMR and MSI, including two cases with hypermethylation. In at least two patients a germline event was suspected based on allelic frequencies. No pathogenic explanation was found in the last case.CONCLUSION:
Timely testing of precursor lesions would be preferable to detect new LS patients before CRC development. However, standard assessment of dMMR of advanced adenomas from the population screening is not effective.Palavras-chave
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Base de dados:
MEDLINE
Assunto principal:
Síndromes Neoplásicas Hereditárias
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Neoplasias Encefálicas
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Neoplasias Colorretais
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Neoplasias Colorretais Hereditárias sem Polipose
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Adenoma
Idioma:
En
Ano de publicação:
2024
Tipo de documento:
Article