Early detection of duodenal cancer by upper gastrointestinal-endoscopy in Lynch syndrome.
Adult
Aged
Aged, 80 and over
Biomarkers, Tumor
/ genetics
Colorectal Neoplasms, Hereditary Nonpolyposis
/ complications
DNA Mismatch Repair
DNA Mutational Analysis
/ statistics & numerical data
DNA-Binding Proteins
/ genetics
Duodenal Neoplasms
/ diagnosis
Duodenoscopy
/ standards
Early Detection of Cancer
/ methods
Epithelial Cell Adhesion Molecule
/ genetics
Feasibility Studies
Female
Genetic Predisposition to Disease
Humans
Male
Medical History Taking
Middle Aged
Mismatch Repair Endonuclease PMS2
/ genetics
Neoplasm Staging
Practice Guidelines as Topic
Prospective Studies
Registries
/ statistics & numerical data
Time Factors
Young Adult
HNPCC
Lynch syndrome
duodenal cancer
small bowel cancer
surveillance
Journal
International journal of cancer
ISSN: 1097-0215
Titre abrégé: Int J Cancer
Pays: United States
ID NLM: 0042124
Informations de publication
Date de publication:
15 12 2021
15 12 2021
Historique:
revised:
30
06
2021
received:
23
04
2021
accepted:
05
07
2021
pubmed:
1
8
2021
medline:
20
11
2021
entrez:
31
7
2021
Statut:
ppublish
Résumé
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.
Substances chimiques
Biomarkers, Tumor
0
DNA-Binding Proteins
0
EPCAM protein, human
0
Epithelial Cell Adhesion Molecule
0
G-T mismatch-binding protein
0
PMS2 protein, human
EC 3.6.1.-
Mismatch Repair Endonuclease PMS2
EC 3.6.1.3
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
2052-2062Informations de copyright
© 2021 The Authors. International Journal of Cancer published by John Wiley & Sons Ltd on behalf of UICC.
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