{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,11,7]],"date-time":"2026-11-07T04:27:44Z","timestamp":1794025664533,"version":"4.8.0"},"reference-count":36,"publisher":"BMJ","issue":"11","license":[{"start":{"date-parts":[[2020,10,12]],"date-time":"2020-10-12T00:00:00Z","timestamp":1602460800000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100004622","name":"KWF Kankerbestrijding","doi-asserted-by":"publisher","award":["KWF UL 2012\u20135155"],"award-info":[{"award-number":["KWF UL 2012\u20135155"]}],"id":[{"id":"10.13039\/501100004622","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["J Clin Pathol"],"accepted":{"date-parts":[[2020,8,26]]},"published-print":{"date-parts":[[2021,11]]},"abstract":"<jats:sec>\n                    <jats:title>Aims<\/jats:title>\n                    <jats:p>Previous estimates of the prevalence of mismatch repair (MMR) deficiency and Lynch syndrome in small bowel cancer have varied widely. The aim of this study was to establish the prevalence of MMR deficiency and Lynch syndrome in a large group of small bowel adenocarcinomas.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>\n                      To this end, a total of 400 small bowel adenocarcinomas (332 resections, 68 biopsies) were collected through the Dutch nationwide registry of histopathology and cytopathology (Pathologisch-Anatomisch Landelijk Geautomatiseerd Archief (PALGA)). No preselection criteria, such as family history, were applied, thus avoiding (ascertainment) bias. MMR deficiency status was determined by immunohistochemical staining of MMR proteins, supplemented by\n                      <jats:italic>MLH1<\/jats:italic>\n                      promoter hypermethylation analysis and next generation sequencing of the MMR genes.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>MMR deficiency was observed in 22.3% of resected and 4.4% of biopsied small bowel carcinomas. Prevalence of Lynch syndrome was 6.2% in resections and 0.0% in biopsy samples. Patients with Lynch syndrome-associated small bowel cancer were significantly younger at the time of diagnosis than patients with MMR-proficient and sporadic MMR-deficient cancers (mean age of 54.6 years vs 66.6 years and 68.8 years, respectively, p&lt;0.000).<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>The prevalence of MMR deficiency and Lynch syndrome in resected small bowel adenocarcinomas is at least comparable to prevalence in colorectal cancers, a finding relevant both for treatment (immunotherapy) and family management. We recommend that all small bowel adenocarcinomas should be screened for MMR deficiency.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1136\/jclinpath-2020-207040","type":"journal-article","created":{"date-parts":[[2020,10,12]],"date-time":"2020-10-12T17:25:54Z","timestamp":1602523554000},"page":"724-729","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":17,"title":["Prevalence of mismatch repair deficiency and Lynch syndrome in a cohort of unselected small bowel adenocarcinomas"],"prefix":"10.1136","volume":"74","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-7058-6973","authenticated-orcid":false,"given":"Manon","family":"Suerink","sequence":"first","affiliation":[{"name":"Clinical Genetics, LUMC, Leiden, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G\u00fcl","family":"Kilin\u00e7","sequence":"additional","affiliation":[{"name":"Clinical Genetics, LUMC, Leiden, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Diantha","family":"Terlouw","sequence":"additional","affiliation":[{"name":"Clinical Genetics, LUMC, Leiden, The Netherlands"},{"name":"Pathology, LUMC, Leiden, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hristina","family":"Hristova","sequence":"additional","affiliation":[{"name":"Clinical Genetics, LUMC, Leiden, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lily","family":"Sensuk","sequence":"additional","affiliation":[{"name":"Clinical Genetics, LUMC, Leiden, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Demi","family":"van Egmond","sequence":"additional","affiliation":[{"name":"Pathology, LUMC, Leiden, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Arantza","family":"Farina Sarasqueta","sequence":"additional","affiliation":[{"name":"Pathology, Amsterdam UMC Location AMC, Amsterdam, North Holland, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alexandra M J","family":"Langers","sequence":"additional","affiliation":[{"name":"Gastroenterology and Hepatology, LUMC, Leiden, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tom","family":"van Wezel","sequence":"additional","affiliation":[{"name":"Pathology, LUMC, Leiden, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hans","family":"Morreau","sequence":"additional","affiliation":[{"name":"Pathology, LUMC, Leiden, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maartje","family":"Nielsen","sequence":"additional","affiliation":[{"name":"Clinical Genetics, LUMC, Leiden, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[2020,10,12]]},"reference":[{"key":"2025120519574581000_74.11.724.1","doi-asserted-by":"crossref","first-page":"1","DOI":"10.4251\/wjgo.v3.i3.33","article-title":"Epidemiology of cancer of the small intestine","volume":"3","author":"Pan","year":"2011","journal-title":"World J Gastrointest Oncol"},{"key":"2025120519574581000_74.11.724.2","doi-asserted-by":"publisher","DOI":"10.1016\/j.gtc.2016.04.004"},{"key":"2025120519574581000_74.11.724.3","unstructured":"Jasperson KW , Patel SG , Ahnen DJ . 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