Sarsour N, Karloski E, Dudley B, Uttam S, Diergaarde B, Brand RE. Polyposis in Lynch syndrome: A retrospective study. World J Gastrointest Endosc 2026; 18(6): 119473 [DOI: 10.4253/wjge.v18.i6.119473]
Corresponding Author of This Article
Randall E Brand, MD, Department of Medicine, University of Pittsburgh, 200 Lothrop St, Pittsburgh, PA 15213, United States. brandre@upmc.edu
Research Domain of This Article
Gastroenterology & Hepatology
Article-Type of This Article
research-article
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World J Gastrointest Endosc. Jun 16, 2026; 18(6): 119473 Published online Jun 16, 2026. doi: 10.4253/wjge.v18.i6.119473
Polyposis in Lynch syndrome: A retrospective study
Nadeen Sarsour, Eve Karloski, Beth Dudley, Shikhar Uttam, Brenda Diergaarde, Randall E Brand
Nadeen Sarsour, Eve Karloski, Beth Dudley, Randall E Brand, Department of Medicine, University of Pittsburgh, Pittsburgh, PA 15213, United States
Shikhar Uttam, Department of Computational and Systems Biology, University of Pittsburgh and UPMC Hillman Cancer Center, Pittsburgh, PA 15213, United States
Brenda Diergaarde, Department of Human Genetics, Graduate School of Public Health, University of Pittsburgh, and UPMC Hillman Cancer Center, Pittsburgh, PA 15213, United States
Author contributions: Sarsour N contributed to drafting of the article; Uttam S contributed to interpretation of the data; Sarsour N, Dudley B, Karloski E, Uttam S, Diergaarde B, and Brand R contributed to critical revision of the article for important intellectual content, final approval of the article; Sarsour N, Dudley B, Karloski E, and Brand R contributed to conception and design; Sarsour N, Diergaarde B, and Brand R contributed to analysis and interpretation of the data.
Institutional review board statement: Hereditary Colorectal and Associated Tumor Study, the study was reviewed and approved by the Institutional Review Board of University of Pittsburgh, No. MOD19050027-026.
Conflict-of-interest statement: All authors declare that they have no conflict of interest to disclose.
Data sharing statement: Technical appendix, statistical code, and dataset available from the corresponding author at brandre@upmc.edu.
Corresponding author: Randall E Brand, MD, Department of Medicine, University of Pittsburgh, 200 Lothrop St, Pittsburgh, PA 15213, United States. brandre@upmc.edu
Received: January 28, 2026 Revised: March 11, 2026 Accepted: May 8, 2026 Published online: June 16, 2026 Processing time: 133 Days and 5.8 Hours
Abstract
BACKGROUND
National Comprehensive Cancer Network guidelines recommend patients with ≥ 10 lifetime adenomas undergo genetic evaluation for polyposis syndromes. Lynch syndrome (LS) has not historically been considered a polyposis syndrome. We utilized our hereditary gastrointestinal tumor registry to determine the number of lifetime adenomas in LS patients, and to assess differences in demographic and clinical factors between those with < 10 adenomas and those with ≥ 10.
AIM
To describe a cohort of patients with LS who have developed polyposis that may be used to improve endoscopic surveillance guidelines in this population.
METHODS
Medical records from LS patients enrolled in our registry since 2005 (n = 260) were reviewed for colonoscopy outcomes, colorectal cancer diagnosis, and other clinical factors. Groups of interest were compared using Fisher’s exact test and Wilcoxon-Mann-Whitney test.
RESULTS
Three patients were excluded, leaving 257 individuals for data analysis. Most patients were female and white. Mean follow-up time was 6.8 years. Eleven (4.3%) patients had ≥ 10 adenomas. Number of colonoscopies and follow-up time were significantly higher in patients with ≥ 10 adenomas compared with those diagnosed with < 10. For assessment of differences between the two groups, we limited our analysis to include those with ≥ 6 lifetime colonoscopies (n = 92). No significant differences in the evaluated characteristics were observed between those with ≥ 10 adenomas and those with < 10. MSH6 and MSH2 were the most commonly affected genes in the ≥ 10 adenomas group, accounting for 45.5% each, together representing 90.9% (10/11) of the polyposis cohort, compared to 24.7% and 35.8%, respectively, in the < 10 adenomas group.
CONCLUSION
Polyposis occurs in LS; possibly, more frequently among those with MSH6 or MSH2 pathogenic variants. LS should be included as a differential for attenuated polyposis.
Core Tip: The purpose of this study was to describe and investigate polyposis (≥ 10 lifetime adenomas) in patients with a diagnosis of Lynch syndrome (LS). Previously known as hereditary nonpolyposis syndrome, more data have emerged describing polyposis in these patients. We used a registry of patients with LS at our institution to find possible associations and commonalities among patients who had ≥ 10 lifetime adenomas to help determine which of these high-risk patients may be at higher risk for developing adenomas. We discovered that patients with polyposis more often had pathogenic variants in the MSH2 and MSH6 genes.
