{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,1]],"date-time":"2026-09-01T14:54:49Z","timestamp":1788274489102,"version":"build-2803163510"},"reference-count":9,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2025,10,7]],"date-time":"2025-10-07T00:00:00Z","timestamp":1759795200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Oncol."],"abstract":"<jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>Lynch syndrome (LS), previously known as hereditary nonpolyposis colorectal cancer (CRC), is an autosomal dominant disorder characterized by germline variants in the mismatch repair (MMR) gene (e.g., MLH1 and MSH2) with microsatellite instability (MSI), which leads to the development of CRC in 80% of cases with LS. Proximal colon is always involved in LS. LS is accompanied by an increased risk of developing glioblastoma, gastric cancer, and colorectal, endometrial, urothelial (ureteral and bladder), small intestinal, ovarian, biliary tract, and skin tumors (keratoacanthomas and sebaceous adenomas). The U.S. Food and Drug Administration has approved the use of pembrolizumab in the treatment of solid tumors with MMR defects or high MSI. Studies have shown that CRCs with MMR pathway loss-of-function variants respond favorably to PD-1 blockade immunotherapy.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Case presentation<\/jats:title>\n                    <jats:p>In this study, we report a case of LS in a 39-year-old female patient with concurrent ovarian and rectal adenocarcinoma. She showed high MSI, \u201cpathogenic\u201d germline variants in the MSH2 gene, and high tumor mutation burden. As a treatment modality, we chose a combination of immune checkpoint inhibitors, chemotherapy, and surgery and achieved a clinical complete response.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>This report is aimed at providing a reference for the diagnosis and treatment of tumors related to lynch syndrome, highlighting the diagnostic process of LS, and reporting treatment strategy of tumors related to lynch syndrome with the combination of immune checkpoint inhibitors, chemotherapy, and surgery.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.3389\/fonc.2025.1534979","type":"journal-article","created":{"date-parts":[[2025,10,7]],"date-time":"2025-10-07T04:13:32Z","timestamp":1759810412000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":2,"title":["Case Report: Successful treatment of a case of Lynch syndrome with double primary ovarian and rectal cancer"],"prefix":"10.3389","volume":"15","author":[{"given":"Zhengliang","family":"Yu","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gang","family":"Yang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jing","family":"Yue","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Haiyan","family":"Liang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Man","family":"Yi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yong","family":"Luo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Haixiao","family":"Fu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zhenran","family":"Wang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zhiyuan","family":"Jian","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yi","family":"Gao","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1965","published-online":{"date-parts":[[2025,10,7]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","DOI":"10.3389\/fonc.2023.1147590","article-title":"Lynch syndrome cancer vaccines: A roadmap for the development of precision immunoprevention strategies","volume":"13","author":"Sei","year":"2023","journal-title":"Front Oncol"},{"key":"B2","doi-asserted-by":"publisher","DOI":"10.1053\/j.gastro.2021.09.071","article-title":"American gastroenterological association institute and college of American pathologists quality measure development for detection of mismatch repair deficiency and lynch syndrome management","volume":"162","author":"Leiman","year":"2022","journal-title":"Gastroenterology"},{"key":"B3","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejca.2017.09.022","article-title":"Clinical and molecular characterisation of hereditary and sporadic metastatic colorectal cancers harbouring microsatellite instability\/DNA mismatch repair deficiency","volume":"86","author":"Cohen","year":"2017","journal-title":"Eur J Cancer (Oxford England: 1990)"},{"key":"B4","doi-asserted-by":"publisher","DOI":"10.1158\/1055-9965.EPI-16-0693","article-title":"Prevalence and penetrance of major genes and polygenes for colorectal cancer","volume":"26","author":"Aung Ko","year":"2016","journal-title":"Cancer Epidemiol Biomarkers Prev"},{"key":"B5","doi-asserted-by":"publisher","DOI":"10.1200\/JCO.18.00283","article-title":"Microsatellite instability is associated with the presence of lynch syndrome pan-cancer","volume":"37","author":"Alicia","year":"2018","journal-title":"J Clin Oncol"},{"key":"B6","doi-asserted-by":"publisher","DOI":"10.1200\/JCO.19.01021","article-title":"Phase II study of avelumab in patients with mismatch repair deficient and mismatch repair proficient recurrent\/persistent endometrial cancer","volume":"37","author":"Panagiotis","year":"2019","journal-title":"J Clin Oncol"},{"key":"B7","doi-asserted-by":"publisher","DOI":"10.1016\/S1470-2045(20)30445-9","article-title":"Association of tumour mutational burden with outcomes in patients with advanced solid tumours treated with pembrolizumab: prospective biomarker analysis of the multicohort, open-label, phase 2 KEYNOTE-158 study","volume":"21","author":"Aur\u00e9lien","year":"2020","journal-title":"Lancet Oncol"},{"key":"B8","doi-asserted-by":"publisher","DOI":"10.1038\/ajg.2014.435","article-title":"ACG clinical guideline: Genetic testing and management of hereditary gastrointestinal cancer syndromes","volume":"110","author":"Sapna","year":"2015","journal-title":"Am J Gastroenterol"},{"key":"B9","doi-asserted-by":"publisher","DOI":"10.1001\/jama.2023.19918","article-title":"Sintilimab plus chemotherapy for unresectable gastric or gastroesophageal junction cancer: the ORIENT-16 randomized clinical trial","volume":"330","author":"Jianming","year":"2023","journal-title":"JAMA"}],"container-title":["Frontiers in Oncology"],"original-title":[],"link":[{"URL":"https:\/\/www.frontiersin.org\/articles\/10.3389\/fonc.2025.1534979\/full","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,23]],"date-time":"2025-10-23T07:15:32Z","timestamp":1761203732000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.frontiersin.org\/articles\/10.3389\/fonc.2025.1534979\/full"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,10,7]]},"references-count":9,"alternative-id":["10.3389\/fonc.2025.1534979"],"URL":"https:\/\/doi.org\/10.3389\/fonc.2025.1534979","relation":{},"ISSN":["2234-943X"],"issn-type":[{"value":"2234-943X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,10,7]]},"article-number":"1534979"}}