Characterization and Clinical Outcomes of DNA Mismatch Repair-deficient Small Bowel Adenocarcinoma.
Adenocarcinoma
/ genetics
Adult
Aged
Aged, 80 and over
Biomarkers, Tumor
/ genetics
Colorectal Neoplasms, Hereditary Nonpolyposis
/ genetics
DNA Mismatch Repair
Female
Follow-Up Studies
Germ-Line Mutation
Humans
Intestinal Neoplasms
/ genetics
Intestine, Small
/ pathology
Male
Microsatellite Instability
Middle Aged
Neoplasm Recurrence, Local
/ genetics
Neoplasms, Multiple Primary
/ genetics
Prognosis
Retrospective Studies
Journal
Clinical cancer research : an official journal of the American Association for Cancer Research
ISSN: 1557-3265
Titre abrégé: Clin Cancer Res
Pays: United States
ID NLM: 9502500
Informations de publication
Date de publication:
01 03 2021
01 03 2021
Historique:
received:
28
07
2020
revised:
01
10
2020
accepted:
10
11
2020
pubmed:
18
11
2020
medline:
11
2
2022
entrez:
17
11
2020
Statut:
ppublish
Résumé
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. 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 ( 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; 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.
Identifiants
pubmed: 33199489
pii: 1078-0432.CCR-20-2892
doi: 10.1158/1078-0432.CCR-20-2892
pmc: PMC7925361
mid: NIHMS1647173
doi:
Substances chimiques
Biomarkers, Tumor
0
Types de publication
Journal Article
Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
1429-1437Subventions
Organisme : NCI NIH HHS
ID : K08 CA230213
Pays : United States
Organisme : NCI NIH HHS
ID : P30 CA008748
Pays : United States
Informations de copyright
©2020 American Association for Cancer Research.
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