Serrated polyposis: colonic phenotype, extracolonic features, and familial risk in a large cohort.

Background: Serrated polyposis is a poorly understood and likely underdiagnosed condition. Little is known regarding the colorectal cancer risk, extracolonic phenotype, and cause of serrated polyposis.

Objective: The aim of this study is to describe the clinical and family history features of a large cohort of individuals with serrated polyposis.

Design: This is a retrospective cohort study from 2 prospectively collected registries.

Patients: Patients meeting the updated 2010 World Health Organization criteria for serrated polyposis were included.

Main Outcome Measures: We report descriptive statistics for clinical and family history factors.

Results: A total of 52 individuals met criteria for serrated polyposis. Of these, one had Lynch syndrome and was not included in the statistical analyses. Median age at serrated polyposis diagnosis was 51 years (range, 18-77). Twenty-four (47%) patients were male, and 25 (49%) had a history of smoking. Two hundred sixty-eight lower endoscopic procedures were performed; 42 (82%) patients had colorectal adenomas, 8 (16%) had a personal history of colorectal cancer (only 1 was diagnosed during follow-up), 12 (24%) had extracolonic tumors (4 had more than 1 primary tumor), and 19 (37%) reported a family history of colorectal cancer. Esophagogastroduodenoscopy in 30 individuals revealed only 1 (3%) with unexplained gastroduodenal polyps. No association was found between colorectal cancer diagnosis and sex, age at serrated polyposis diagnosis, extracolonic tumor, history of adenoma, or smoking status.

Limitations: This was a retrospective study with no comparison groups.

Conclusions: Gastroduodenal polyps are uncommon and likely not associated with serrated polyposis. Although extracolonic tumors were common in our cohort, it is still unclear whether these are associated with serrated polyposis. Our data, along with previous studies, support an association between serrated polyposis and smoking. Further work is still needed to clarify the effect of smoking on polyp development/progression in serrated polyposis.