Mismatch repair deficiency in early‐onset duodenal, ampullary, and pancreatic carcinomas is a strong indicator for a hereditary defect. (6th December 2021)

• Record Type: Journal Article
• Authors: Kryklyva, Valentyna; Brosens, Lodewijk AA; Marijnissen‐van Zanten, Monica AJ; Ligtenberg, Marjolijn JL; Nagtegaal, Iris D
• Is Part Of: Journal of pathology. Volume 8:Number 2(2022)
• Page Start: 181
• Page End: 190
• Publication Date: 2021-12-06
• Subjects: mismatch repair deficiency -- early‐onset duodenal carcinoma -- early‐onset ampullary carcinoma -- early‐onset pancreatic carcinoma -- Lynch syndrome -- germline variants -- microsatellite instability -- constitutional mismatch repair deficiency syndrome; Pathology -- Periodicals; Diagnosis, Laboratory -- Periodicals; 616.07
• DOI: 10.1002/cjp2.252
• Languages: English
• ISSNs: 2056-4538

Abstract

Abstract: Mismatch repair deficiency (dMMR) is a hallmark of Lynch syndrome (LS), but its prevalence in early‐onset (diagnosed under the age of 50 years) duodenal, ampullary, and pancreatic carcinomas (DC, AC, and PC, respectively) is largely unknown. We explored the prevalence of dMMR and the underlying molecular mechanisms in a retrospectively collected cohort of 90 early‐onset carcinomas of duodenal, ampullary, and pancreatic origin. dMMR was most prevalent in early‐onset DCs (47.8%); more than half of those were associated with hereditary cancer syndromes (LS or constitutional mismatch repair deficiency syndrome). All dMMR AC and PC were due to LS. Concordance of dMMR with underlying hereditary condition warrants ubiquitous dMMR testing in all early‐onset DC, AC, and PC.