Clinical and endoscopic characteristics of patients with Oligopolyposis

Aims Oligopolyposis is a rare condition characterized by 10 to 100 adenomas in the colon. We aimed to investigate the clinical and endoscopic features of patients with oligopolyposis by comparing pathogenic mutation carriers and non-carriers.

Methods: This retrospective study included patients with a cumulative count of 10-100 adenomas found in the colon in a single center. Clinical, endoscopic, and genetic data were analyzed.

Results 155 patients were identified with oligopolyposis. Genetic testing with a multigene panel was performed among 85 (55%) patients, while founder or family mutation testing was performed among 7 (4.5%) patients. No genetic testing was carried out in 63 (40.5%) patients. Pathogenic polyposis-related mutations were identified in 14 (16%) of 85 patients who underwent genetic testing. Of these, 7 (50%) mutations were found in the APC gene and 7 (50%) in the MUTYH gene. A significantly higher proportion of mutation carriers were of Arab ethnicity (35.7% vs 4.2%, p<0.001). There was no significant difference between carriers and non-carriers with regard to family history of polyps or cancer. Colorectal cancer was found to be the initial presentation in 3 (21%) carriers and 5 (7%) of non-carriers. Colonic surgeries were reported among 4 (28.6%) carriers and 13 (18.6%) non-carriers. No significant differences in rates of colorectal cancer or death were observed between carriers and non-carriers.

Conclusions Only a small proportion part of patients with oligopolyposis were found to be mutation carriers, with significant ethnic differences in mutation frequency, but no notable differences in clinical features, colorectal cancer rates, or mortality.

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Artikel online veröffentlicht:
27. März 2025