Clinical and Endoscopic Characteristics of Patients with Oligopolyposis

<b>Background/Objectives</b>: 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 patients who carried pathogenic mutations and those who did not. <b>Methods</b>: This retrospective study included patients with a cumulative count of 10-100 adenomas found in the colon, at a single center. Clinical, endoscopic, and genetic data were analyzed. <b>Results</b>: A total of 155 patients were identified as having oligopolyposis. Genetic testing using 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%) out of 85 patients who underwent genetic testing. Among these, seven (50%) mutations were found in the <i>APC</i> gene and seven (50%) in the <i>MUTYH</i> gene. A significantly higher proportion of mutation carriers were of Arab ethnicity (35.7% vs. 4.2%, <i>p</i> < 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 three (21%) carriers and five (7%) non-carriers. Colonic surgeries were reported among 4 (28.6%) carriers and 13 (18.6%) non-carriers. No significant differences in the rates of colorectal cancer or death were observed between carriers and non-carriers. <b>Conclusions</b>: Only a small proportion 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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Publication Details

Journal
Journal of Clinical Medicine
Published
2025-02-26
DOI
https://doi.org/10.3390/jcm14051562
Primary Topic
Genetic factors in colorectal cancer
Type
article
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article

Clinical and Endoscopic Characteristics of Patients with Oligopolyposis

Sarah Weissmann, Naim Abu‐Freha, Muhammad Abu-Arar, Liza Ben‐Shoshan et al.
Journal of Clinical Medicine
Genetic factors in colorectal cancer
article

Clinical and Endoscopic Characteristics of Patients with Oligopolyposis

Sarah Weissmann, Naim Abu‐Freha, Muhammad Abu-Arar, Liza Ben‐Shoshan, Zlata Lerner, Ali Abu‐Juma, Fahmi Abu Ghalion, Waleed Alamour
article en

Abstract

<b>Background/Objectives</b>: 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 patients who carried pathogenic mutations and those who did not. <b>Methods</b>: This retrospective study included patients with a cumulative count of 10-100 adenomas found in the colon, at a single center. Clinical, endoscopic, and genetic data were analyzed. <b>Results</b>: A total of 155 patients were identified as having oligopolyposis. Genetic testing using 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%) out of 85 patients who underwent genetic testing. Among these, seven (50%) mutations were found in the <i>APC</i> gene and seven (50%) in the <i>MUTYH</i> gene. A significantly higher proportion of mutation carriers were of Arab ethnicity (35.7% vs. 4.2%, <i>p</i> < 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 three (21%) carriers and five (7%) non-carriers. Colonic surgeries were reported among 4 (28.6%) carriers and 13 (18.6%) non-carriers. No significant differences in the rates of colorectal cancer or death were observed between carriers and non-carriers. <b>Conclusions</b>: Only a small proportion 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.

Journal of Clinical MedicineVol. 14(5)
Ben-Gurion University of the Negev (IL), Soroka Medical Center (IL)
Good health and well-being
Openalex Percentile: Top 95%
Genetic factors in colorectal cancer
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