{"doi":"10.1158/1078-0432.c.6529974","title":"Data from Characterization and Clinical Outcomes of DNA Mismatch Repair–deficient Small Bowel Adenocarcinoma","abstract":"<div>AbstractPurpose:<p>The prevalence and clinical characteristics of small bowel adenocarcinomas (SBA) in the setting of Lynch syndrome have not been well studied. We characterized SBA according to DNA mismatch repair and/or microsatellite instability (MMR/MSI) and germline mutation status and compared clinical outcomes.</p>Experimental Design:<p>A single-institution review identified 100 SBAs. Tumors were evaluated for MSI via MSIsensor and/or corresponding MMR protein expression via IHC staining. Germline DNA was analyzed for mutations in known cancer predisposition genes, including MMR (<i>MLH1, MSH2, MSH6, PMS2</i>, and <i>EPCAM</i>). Clinical variables were correlated with MMR/MSI status.</p>Results:<p>Twenty-six percent (26/100; 95% confidence interval, 18.4–35.4) of SBAs exhibited MMR deficiency (MMR-D). Lynch syndrome prevalence was 10% overall and 38.5% among MMR-D SBAs. Median age at SBA diagnosis was similar in non-Lynch syndrome MMR-D versus MMR-proficient (MMR-P) SBAs (65 vs. 61; <i>P</i> = 0.75), but significantly younger in Lynch syndrome (47.5 vs. 61; <i>P</i> = 0.03). The prevalence of synchronous/metachronous cancers was 9% (6/67) in MMR-P versus 34.6% (9/26) in MMR-D SBA, with 66.7% (6/9) of these in Lynch syndrome (<i>P</i> = 0.0002). In the MMR-P group, 52.2% (35/67) of patients presented with metastatic disease, compared with 23.1% (6/26) in the MMR-D group (<i>P</i> = 0.008). In MMR-P stage I/II patients, 88.2% (15/17) recurred, compared with 18.2% (2/11) in the MMR-D group (<i>P</i> = 0.0002).</p>Conclusions:<p>When compared with MMR-P SBA, MMR-D SBA was associated with earlier stage disease and lower recurrence rates, similar to observations in colorectal cancer. With a 38.5% prevalence in MMR-D SBA, germline Lynch syndrome testing in MMR-D SBA is warranted.</p></div>","journal":null,"year":2023,"id":405221,"datarank":0.0,"base_score":0.0,"endowment":0.0,"self_citation_contribution":0.0,"citation_network_contribution":0.0,"self_endowment_contribution":0.0,"citer_contribution":0.0,"corpus_percentile":null,"corpus_rank":null,"citation_count":0,"citer_count":0,"citers_with_citation_signal":0,"citers_with_endowment":0,"datacite_reuse_total":0,"is_dataset":false,"is_dataset_confidence":0.5564,"is_data_producer":false,"deposit_databanks":null,"is_oa":true,"file_count":0,"downloads":0,"has_version_chain":false,"published_date":"2023-01-01","fair_score":null,"fair_percentile":null,"algorithm_id":"datarank_citation_only_1hop_v6","ranking_scope":"data_only","authors":[{"id":239557,"name":"Jinru Shia","orcid":"0000-0002-4351-2511","position":1,"is_corresponding":false},{"id":243408,"name":"Zalak Patel","orcid":null,"position":2,"is_corresponding":false},{"id":239546,"name":"Diane Reidy‐Lagunes","orcid":"0000-0003-2688-4556","position":3,"is_corresponding":false},{"id":75232,"name":"Neil H. 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Paty","orcid":"0000-0002-7045-2112","position":12,"is_corresponding":false},{"id":90685,"name":"Ahmet Zehir","orcid":"0000-0001-5406-4104","position":13,"is_corresponding":false},{"id":357440,"name":"Kaitlin A. Tkachuk","orcid":null,"position":14,"is_corresponding":false},{"id":357441,"name":"Rania Sheikh","orcid":null,"position":15,"is_corresponding":false},{"id":239547,"name":"Arnold J. Markowitz","orcid":"0000-0002-5449-9623","position":16,"is_corresponding":false},{"id":2235,"name":"Diana Mandelker","orcid":"0000-0003-4154-0567","position":17,"is_corresponding":false},{"id":108795,"name":"Kenneth Offit","orcid":"0000-0002-2180-2032","position":18,"is_corresponding":false},{"id":1183545,"name":"Michael F. Berger","orcid":"0000-0002-0760-7177","position":19,"is_corresponding":false},{"id":90734,"name":"Andrea Cercek","orcid":"0000-0002-5054-8192","position":20,"is_corresponding":false},{"id":239558,"name":"Julio García‐Aguilar","orcid":"0000-0003-2451-0948","position":21,"is_corresponding":false},{"id":90755,"name":"Leonard B. Saltz","orcid":"0000-0001-8353-4670","position":22,"is_corresponding":false},{"id":106444,"name":"Martin R. Weiser","orcid":"0000-0002-9577-7984","position":23,"is_corresponding":false},{"id":108796,"name":"Zsofia K. Stadler","orcid":"0000-0002-6985-2864","position":24,"is_corresponding":false},{"id":333867,"name":"Alicia Latham","orcid":"0000-0002-9758-713X","position":0,"is_corresponding":true}],"reference_count":37,"raw_metadata":{"citation_network_status":"fetched"},"created_at":"2026-07-19T01:20:49.237119Z","pmid":null,"pmcid":null,"fwci":null,"citation_percentile":null,"influential_citations":0,"oa_status":null,"license":null,"views":0,"total_file_size_bytes":0,"version_count":0,"fair_f":null,"fair_a":null,"fair_i":null,"fair_r":null,"fair_zscore":null,"fair_rationale":null,"fair_model":null,"fair_agent_version":null,"fair_fulltext_source":null,"fair_has_llm":null,"fair_computed_at":null,"clinical_trials":[],"software_tools":[],"db_accessions":[],"linked_datasets":[],"topics":[]}