Early detection of duodenal cancer by upper gastrointestinal-endoscopy in Lynch syndrome

Research output: Contribution to journalResearch articleContributedpeer-review


  • Ruhr University Bochum
  • Leipzig University
  • University of Bonn
  • Ludwig Maximilian University of Munich
  • MGZ - Medical Genetics Center Munich
  • Heinrich Heine University Düsseldorf
  • Heidelberg University 
  • German Cancer Research Center (DKFZ)
  • Evangelisches Bethesda Krankenhaus
  • University of Cologne
  • Hospital St. Joseph-Stift Bremen
  • MVZ Arnsberg


Small bowel cancer (SBC) is the malignancy with the highest standardized incidence ratio in Lynch syndrome (LS) patients. Of all SBCs, about 50% are duodenal cancers (DCs), therefore being accessible by esophago-gastro-duodenoscopy (EGD) for surveillance. We asked whether early detection of DC is possible for LS patients undergoing surveillance by EGD and if surveillance should be limited to specific subgroups. Data for LS patients with DC were retrieved from the registry of the German Consortium for Familial Intestinal Cancer. Patients undergoing active surveillance by EGDs (surveillance group) were compared to those who did not (nonsurveillance group) regarding tumor stage at diagnosis. Union for International Cancer Control stages I-IIA were defined as early stage disease and IIB-IV as advanced stage disease. Statistical analysis was performed using Fisher's exact test. Among 2015 patients with pathogenic variants in any mismatch-repair-gene, 47 patients with 49 DCs were identified. In 10% of cases, patients were under 35 years at diagnosis; family and personal tumor history did not correlate with DC diagnosis. Pathogenic germline variants in MSH6, PMS2 or EPCAM were present in 10% of patients. Statistical analysis could be performed on 13 DC patients in the surveillance group and 14 in the nonsurveillance group. Early detection was possible for 71% of patients in the surveillance group and 29% of patients in the nonsurveillance group (P =.021). Early detection of DC by EGD in LS patients is feasible regardless of family history, mutational status and should start no later than 25 years of age.


Original languageEnglish
Pages (from-to)2052-2062
Number of pages11
JournalInternational journal of cancer
Issue number12
Publication statusPublished - 15 Dec 2021

External IDs

PubMed 34331771


Sustainable Development Goals

ASJC Scopus subject areas


  • duodenal cancer, HNPCC, Lynch syndrome, small bowel cancer, surveillance

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