Prevalence of mismatch repair deficiency and Lynch syndrome in a cohort of unselected small bowel adenocarcinomas.
Adenocarcinoma
/ genetics
Aged
Cohort Studies
Colorectal Neoplasms, Hereditary Nonpolyposis
/ epidemiology
DNA Methylation
/ genetics
DNA Mismatch Repair
DNA-Binding Proteins
/ genetics
Female
Genetic Predisposition to Disease
Humans
Intestinal Neoplasms
/ genetics
Male
Middle Aged
Mismatch Repair Endonuclease PMS2
/ genetics
MutL Protein Homolog 1
/ genetics
MutS Homolog 2 Protein
/ genetics
Prevalence
gastrointestinal neoplasms
genetics
hereditary
intestine
neoplastic syndromes
small
Journal
Journal of clinical pathology
ISSN: 1472-4146
Titre abrégé: J Clin Pathol
Pays: England
ID NLM: 0376601
Informations de publication
Date de publication:
Nov 2021
Nov 2021
Historique:
received:
19
08
2020
revised:
25
08
2020
accepted:
26
08
2020
pubmed:
14
10
2020
medline:
9
11
2021
entrez:
13
10
2020
Statut:
ppublish
Résumé
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. 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 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<0.000). 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.
Identifiants
pubmed: 33046565
pii: jclinpath-2020-207040
doi: 10.1136/jclinpath-2020-207040
pmc: PMC8543220
doi:
Substances chimiques
DNA-Binding Proteins
0
G-T mismatch-binding protein
0
MLH1 protein, human
0
MSH2 protein, human
EC 3.6.1.3
Mismatch Repair Endonuclease PMS2
EC 3.6.1.3
MutL Protein Homolog 1
EC 3.6.1.3
MutS Homolog 2 Protein
EC 3.6.1.3
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
724-729Investigateurs
E J M Ahsmann
(EJM)
Groene Hart Ziekenhuis
(GH)
C Jansen
(C)
Laboratorium Pathologie Oost-Nederland
(LP)
R S van der Post
(RS)
Radboud Umc Nijmegen
(RU)
C Wauters
(C)
Cwz Nijmegen
(C)
C Y Yick
(CY)
Amphia Ziekenhuis Breda
(AZ)
Informations de copyright
© Author(s) (or their employer(s)) 2021. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ.
Déclaration de conflit d'intérêts
Competing interests: None declared.
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