Yield of upper gastrointestinal screening in colonic adenomatous polyposis of unknown etiology: a multicenter study

Farah, Filsan; Patel, Swati; Espinoza, Jeannine; Jensen, Nicholas; Katona, Bryson W.; Muller, Charles; Kupfer, Sonia S.; Weiss, Jennifer M.; Hinton, Alice; Stanich, Peter P.

doi:10.1055/a-1784-0166

Cited by 3 publications

(4 citation statements)

References 13 publications

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“… 118 Furthermore, a recent multicenter study highlighted that 7% of patients with CPUE had evidence of upper GI neoplasia on an index endoscopy, highlighting that consideration of upper GI surveillance should be made in these individuals. 119 Given limited data the absolute risk of gastric cancer in CPUE remains uncertain.…”

Section: Introductionmentioning

confidence: 99%

Endoscopic Surveillance in Patients with the Highest Risk of Gastric Cancer: Challenges and Solutions

Long¹,

Ebrahimzadeh²,

Stanich³

et al. 2022

CMAR

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Gastric cancer is one of the most significant causes of cancer-related morbidity and mortality worldwide. Recognized modifiable risk factors include Helicobacter pylori infection, geographic location, select dietary factors, tobacco use and alcohol consumption. In addition, multiple hereditary cancer predisposition syndromes are associated with significantly elevated gastric cancer risk. Endoscopic surveillance in hereditary gastric cancer predisposition syndromes has the potential to identify gastric cancer at earlier and more treatable stages, as well as to prevent development of gastric cancer through identification of precancerous lesions. However, much uncertainty remains regarding use of endoscopic surveillance in hereditary gastric cancer predisposition syndromes, including whether or not it should be routinely performed, the surveillance interval and age of initiation, cost-effectiveness, and whether surveillance ultimately improves survival from gastric cancer for these high-risk individuals. In this review, we outline the hereditary gastric cancer predisposition syndromes associated with the highest gastric cancer risks. Additionally, we cover current evidence and guidelines addressing hereditary gastric cancer risk and surveillance in these syndromes, along with current challenges and limitations that emphasize a need for continued research in this field.

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Section: Introductionmentioning

confidence: 99%

Endoscopic Surveillance in Patients with the Highest Risk of Gastric Cancer: Challenges and Solutions

Long¹,

Ebrahimzadeh²,

Stanich³

et al. 2022

CMAR

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“…However, as noted above, the authors did not note any difference in the rate of gastric adenomas, duodenal adenomas or ampullary adenomas in patients with 10 to 19 colorectal adenomas compared with those with 20 to 99 adenomas. There is a similar lack of distinction in other CPUE cohorts receiving upper endoscopy 9,10 . This likely relates to the cumulative number of colorectal adenomas being a fluid number that has more to do with the point in time when a clinician or researcher interacts with a patient and how closely they adhere to recommended colonoscopy intervals than a true phenotypic distinction.…”

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confidence: 99%

“…Finally, it is important to consider the naming convention used to describe colonic polyposis in the setting of negative germline genetic testing. Hajj Ali and colleagues use CPUE to define this condition; however, the citations referenced in their article include a myriad of different terminology for this syndrome, including “colonic adenomatous polyposis of unknown etiology,” “colonic oligopolyposis of unknown etiology,” and “multiple colorectal adenomas without germline APC or MUTYH mutations.” 9,10,12,13 These varied names are all limited and ungainly and likely lead to both decreased awareness by providers and a lack of focus in the scientific literature. Furthermore, all of these naming conventions focus on the colonic manifestations and do not recognize the important extracolonic findings now associated with this syndrome.…”

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confidence: 99%

Rebranding Colonic Polyposis of Unknown Etiology

Stanich,

Katona

2023

Journal of Clinical Gastroenterology

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I ndividuals with 10 or more adenomatous colon polyps and unremarkable germline genetic testing have carried many labels over the years, but more recently, they have been referred to as having colonic polyposis of unknown etiology (CPUE). Recent efforts have shown that CPUE is likely the most common polyposis syndrome. Analysis of screening programs focused on patients with positive stool screening tests (fecal occult blood or fecal immunochemical testing) have reported that 2.0% to 3.2% of patients have 10 or more colorectal adenomas on their initial colonoscopy and the great majority of these patients will not have a detected inherited cause. [1][2][3] This is 2 to 3 times as high as the reported rates of serrated polyposis syndrome, which is often labeled the most common polyposis syndrome, in similar cohorts. [4][5][6] In addition, this is an underestimate of the true prevalence of CPUE, as it does not incorporate the cumulative colonic adenoma count in patients with continued production and resection of colon adenomas over time.Although the name CPUE emphasizes that multiple polyps are found in the colon, individuals meeting this clinical criteria are increasingly being reported to also be at risk for important extracolonic manifestations. Therefore, we applaud Hajj Ali et al 7 for their manuscript investigating extracolonic manifestations in the largest-to-date, single-center cohort of patients with CPUE. Their findings bring up several aspects of CPUE that deserve further exploration and discussion.First, we know that CPUE is severely under-recognized by clinicians. Even within a specialized national colorectal cancer screening program, only 8% of these patients were recognized and referred for genetic counseling. 2 Hajj Ali and colleagues highlight the importance of appropriately identifying and diagnosing these individuals with CPUE to allow for extracolonic surveillance. The authors report a high rate of gastric adenomas (8.3%), duodenal adenomas (33.3%), and ampullary adenomas (8.3%) in patients with 10 to 19 colorectal adenomas, although this is in a cohort of only 12 patients. They also note in a larger cohort of 67 patients with 20 to 99 colorectal adenomas that gastric adenomas were found in 1.4%, duodenal adenomas in 10.1%, and ampullary adenomas in 1.4%. Although there was only 1 patient with advanced-stage duodenal polyposis and no cancers were noted, it is still likely beneficial to have identified and resected the gastroduodenal neoplasia in these individuals with CPUE.Second, the authors are also the first to our knowledge to show that clinically significant thyroid nodules are common in CPUE with 20 to 99 colorectal adenomas. Although there were no thyroid malignancies encountered, this finding deserves further investigation and confirmation, as thyroid screening may be another avenue to improve the care of CPUE patients. This is especially relevant as other adenomatous polyposis syndromes, such as familial adenomatous polyposis, have been associated with an increased risk of thyroid cancer ...

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“…4,6 The risk of extra-colonic manifestations, including gastroduodenal neoplasia and thyroid cancer, is well established among patients with FAP, but limited data exists on the prevalence of upper gastrointestinal neoplasia in CPUE. 1,[7][8][9] While NCCN recommends patients with ≥ 100 cumulative lifetime colorectal adenomas be surveilled similarly to patients with familial adenomatous polyposis (FAP), 5 they recently added a "consideration" for a baseline esophagogastroduodenoscopy (EGD) with visualization of the papilla for patients with 20 to 99 colorectal adenomas and remained silent in regard to thyroid ultrasound surveillance.…”

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confidence: 99%

Upper Gastrointestinal Neoplasia and Worrisome Thyroid Nodules are Common in Colonic Polyposis of Unknown Etiology (CPUE)

Hajj Ali,

Burke,

O’Malley

et al. 2023

Journal of Clinical Gastroenterology

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Background: Colonic polyposis of unknown etiology (CPUE) is defined as ≥10 cumulative colonic adenomas without a detectable germline pathogenic variant. Surveillance for patients with >100 adenomas is recommended, similar to patients with familial adenomatous polyposis. The utility of extra-colonic screening in patients with 10 to <100 adenomas is not well established. Methods: All CPUE patients seen at our center between 2003 and 2022 were included. Patients were categorized based on the range of cumulative colorectal adenoma count: 10 to 19, 20 to 99, and ≥100. Results: In all, 150 patients were identified of which 20(13.3%) had 10 to 19 cumulative adenomas, 79(52.7%) had 20 to 99 adenomas, and 51(34.0%) had ≥100 adenomas. Compared with patients with 10 to 19 and 20 to 99, patients with ≥100 adenomas were younger (mean 51 vs. 52 vs. 42 y, respectively). Of patients who underwent esophagogastroduodenoscopy, duodenal adenomas were found in 33.3%, 10.1%, and 38% in the 3 groups, respectively, P=0.002. Ampullary adenomas were significantly more common in the ≥100 adenoma group (14.8%, P=0.019) compared with 8.3% and 2.9% in the 10 to 19 and 20 to 99 groups, respectively. Thyroid nodules ≥1 cm were not detected in patients with 10 to 19 adenomas but were found in 23.3% and 14.3% of patients with 20 to 99 and ≥100 adenomas, respectively (P=0.254). Conclusion: In our cohort, duodenal and gastric adenomas occurred in CPUE patients with adenoma count 10 to ≥100 at a relatively high proportion. We recommend a baseline esophagogastroduodenoscopy in all patients with CPUE. While clinically significant thyroid nodules were not detected in patients with 10 to 19 adenomas, they occurred in about one-fifth of the patients with ≥20 adenomas, indicating that thyroid ultrasound is prudent.

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Yield of upper gastrointestinal screening in colonic adenomatous polyposis of unknown etiology: a multicenter study

Cited by 3 publications

References 13 publications

Endoscopic Surveillance in Patients with the Highest Risk of Gastric Cancer: Challenges and Solutions

Endoscopic Surveillance in Patients with the Highest Risk of Gastric Cancer: Challenges and Solutions

Rebranding Colonic Polyposis of Unknown Etiology

Upper Gastrointestinal Neoplasia and Worrisome Thyroid Nodules are Common in Colonic Polyposis of Unknown Etiology (CPUE)

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