Neoplasia detection via colonic surveillance among young individuals with MSH6 and PMS2 -associated Lynch Syndrome Journal Article
| Authors: | Latham, A.; Liu, Y. L.; Constantino, G.; Borio, M.; McCoy, S.; Dudzik, C.; Heiman, J.; Kemel, Y.; Ukaegbu, C.; Carlo, M. I.; Ranganathan, M.; Kane, S.; Long, J.; Syngal, S.; Markowitz, A. J.; Stadler, Z. K.; Yurgelun, M. B.; Katona, B. W. |
| Article Title: | Neoplasia detection via colonic surveillance among young individuals with MSH6 and PMS2 -associated Lynch Syndrome |
| Abstract: | Purpose:The age to initiate colonoscopy in MSH6/PMS2-associated Lynch Syndrome (LS) remains uncertain. Herein we characterize colonoscopy findings among young individuals with MSH6/PMS2-associated LS.Methods:Retrospective review of a multi-institutional cohort of individuals with MSH6/PMS2-LS undergoing colonoscopy prior to age 50 was performed. Neoplastic lesions were defined as colorectal cancer (CRC), adenomas, or non-hyperplastic serrated lesions.Results:Among 285 individuals [161 (56%) MSH6; 124 (44%) PMS2], 125 (44%) had a neoplastic finding inclusive of 53 (19%) with CRC [32 (20%) MSH6; 21 (17%) PMS2], with median age at CRC diagnosis of 38 and 38% reporting CRC family history. Among 824 available pooled procedures, there were 194 (24%) procedures with neoplastic lesions identified, including 21(2.6%) with advanced adenomas, 5 (0.5%) with advanced serrated lesions, and 34 (4.1%) with CRC. Among 122 procedures performed under age 30, 16 (13%) had neoplastic findings and 4 (3.3%) had CRC, of which all were found prior to LS diagnosis. Findings did not differ between MSH6 and PMS2 carriers.Conclusions:Among individuals with MSH6/PMS2-associated LS undergoing early colonoscopy, neoplasia was common, even in those under 30. Current recommendations suggesting delayed initiation of surveillance among such patients may lead to missed preventive opportunities. © 2025 Wolters Kluwer Health. All rights reserved. |
| Journal Title: | American Journal of Gastroenterology |
| ISSN: | 0002-9270 |
| Publisher: | Wolters Kluwer Health |
| Publication status: | Online ahead of print |
| Date Published: | 2025-02-27 |
| Online Publication Date: | 2025-02-27 |
| Language: | English |
| DOI: | 10.14309/ajg.0000000000003369 |
| PUBMED: | 40013688 |
| PROVIDER: | scopus |
| DOI/URL: | |
| Notes: | The MSK Cancer Center Support Grant (P30 CA008748) is acknowledge in the PDF -- Source: Scopus |
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