{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,30]],"date-time":"2026-07-30T14:51:23Z","timestamp":1785423083020,"version":"3.56.0"},"reference-count":20,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2023,11,22]],"date-time":"2023-11-22T00:00:00Z","timestamp":1700611200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["pathsocjournals.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["The Journal of Pathology CR"],"published-print":{"date-parts":[[2024,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>A whole exome sequencing (WES)\u2010driven approach to uncover the etiology of unexplained inflammatory gastritides has been underutilized by surgical pathologists. Here, we discovered the pathobiology of an unusual chronic atrophic gastritis in two unrelated patients using this approach. The gastric biopsies were notable for an unusual pattern of gastritis with persistent dense inflammation, loss of both parietal and neuroendocrine cells in the oxyntic mucosa, and sparing of the antral mucosa. The patients were found to harbor pathogenic variants in telomeropathic genes (<jats:italic>POT1<\/jats:italic> and <jats:italic>DCLRE1B<\/jats:italic>). Clonality testing for one of the patients showed evidence of evolving clonality of TCR\u2010gene rearrangement. Both patients showed significantly decreased numbers of stem\/progenitor cells by immunohistochemistry, which appears to be responsible for the development of mucosal atrophy. No such cases of unusual chronic atrophic gastritis in the setting of telomeropathy have been previously reported. The loss of stem\/progenitor cells suggests that stem\/progenitor cell exhaustion in the setting of telomere dysfunction is the likely mechanism for development of this unusual chronic atrophic gastritis. The results underscore the need for close monitoring of these gastric lesions, with special regard to their neoplastic potential. This combined WES\u2010driven approach has promise to identify the cause and mechanism of other uncharacterized gastrointestinal inflammatory disorders.<\/jats:p>","DOI":"10.1002\/cjp2.349","type":"journal-article","created":{"date-parts":[[2023,11,24]],"date-time":"2023-11-24T19:01:43Z","timestamp":1700852503000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["A novel telomere biology disease\u2010associated gastritis identified through a whole exome sequencing\u2010driven approach"],"prefix":"10.1002","volume":"10","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-6060-4717","authenticated-orcid":false,"given":"Namrata","family":"Setia","sequence":"first","affiliation":[{"name":"Department of Pathology University of Chicago  Chicago IL USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8318-6055","authenticated-orcid":false,"given":"Daniela","family":"del 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