No abstract

Background and study aims The majority of patients with 10 or more cumulative colorectal adenomas have uninformative genetic testing and meet criteria for colonic adenomatous polyposis of unknown etiology (CPUE). The yield of upper gastrointestinal screening in patients with CPUE after multi-gene panel testing is unknown and our objective was to characterize this. Patient and methods A multicenter, retrospective analysis of screening upper endoscopies in adults with CPUE after multi-gene panel testing was performed. Those with a history of gastroduodenal neoplasia prior to CPUE diagnosis were excluded. Demographic and clinical variables were collected and compared. Results One hundred and twenty-eight patients with CPUE were included from five participating centers. Nine (7.0 %) had gastroduodenal neoplasia on initial screening upper endoscopy. Those with over 100 colorectal adenomas had a significantly higher rate of gastroduodenal neoplasia than those with 20–99 or 10–19 colorectal adenomas (44.4 % vs 4.1 % vs 4.4 %, P = 0.002). Similar results were seen when the analysis was restricted to only duodenal or ampullary adenomas. The only malignancy was a gastric cancer in a patient with 20 to 99 colorectal adenomas. When comparing patients with gastroduodenal neoplasia to those without, the only significantly different characteristic was the cumulative number of colorectal adenomas. Conclusions We found a 7 % rate of gastroduodenal neoplasia in patients with CPUE after multi-gene panel testing. Although patients with ≥ 100 colorectal adenomas had a significantly higher risk, over 4 % of patients with 10 to 99 colorectal adenomas had gastroduodenal neoplasia. Given this, we recommend a screening upper endoscopy at the time of a colonoscopy after CPUE diagnosis.

The incidence and mortality of colorectal cancer (CRC) in patients under the age of 50, or early age onset (EAO) CRC, are rising; 11% of all colon cancers and 15% of all rectal cancers in the United States (US) are diagnosed in individuals under age 50 [1-3]. EAO-CRC patients commonly present with symptoms, such as hematochezia and iron deficiency anemia (IDA) [4,5]; thus professional societies currently recommend lower endoscopic evaluation for patients with unexplained symptoms [6,7]. Unfortunately, there is a significant delay from the symptom onset to diagnosis in patients with EAO-CRC (152 to 217 days) compared to those diagnosed with CRC over age 50 (30 to 87 days) [4]. However, the extent to which this delay is patient-versus provider-mediated is unclear.CRC screening in the US has historically been recommended starting at age 50, though professional societies recommended average-risk screening in African Americans to start at age 45 in 2008 due to higher incidence and CRC-related mortality in this group [6,8] In response to the overall increasing burden of EAO-CRC in the US, the American Cancer Society (ACS) in 2018 [9] and most recently the United States Preventative Services Task Force (USPSTF) in 2021 [10] and the United States Multi-Society Task Force (US-MSTF) on CRC [11] have decreased the age to begin