Genomic profiling of intestinal/mixed-type superficial non-ampullary duodenal epithelial tumors.
duodenal cancer
genomic testing
next‐generation sequencing
superficial non‐ampullary duodenal epithelial tumor
Journal
JGH open : an open access journal of gastroenterology and hepatology
ISSN: 2397-9070
Titre abrégé: JGH Open
Pays: Australia
ID NLM: 101730833
Informations de publication
Date de publication:
Sep 2021
Sep 2021
Historique:
received:
19
07
2021
accepted:
25
07
2021
entrez:
29
9
2021
pubmed:
30
9
2021
medline:
30
9
2021
Statut:
epublish
Résumé
The mechanism underlying carcinogenesis and the genomic features of superficial non-ampullary duodenal epithelial tumors (SNADETs) have not been elucidated in detail. In this study, we examined the genomic features of incipient SNADETs, such as small lesions resected via endoscopic treatment, using next-generation sequencing (NGS). Twenty consecutive patients who underwent endoscopic treatment for SNADETs of less than 20 mm between January and December 2017 were enrolled. Targeted genomic sequencing was performed through NGS using a panel of 160 cancer-related genes. Furthermore, the alteration/mutation frequencies in SNADETs were examined. The maximum size of the SNADETs examined in this study was 12 mm in diameter. Five SNADETs were classified as low-grade dysplasia (LGD) tumors, while 14 SNADETs were classified as high-grade dysplasia tumors. Only one carcinoma in situ was detected. NGS data for 16 samples were obtained. APC alterations were detected in 81% of samples (13/16). KRAS, BRAF, and TP53 alterations were detected in 25% (4/16), 18.8% (3/16), and 6.3% (1/16) of cases, respectively. We detected
Sections du résumé
BACKGROUND AND AIM
OBJECTIVE
The mechanism underlying carcinogenesis and the genomic features of superficial non-ampullary duodenal epithelial tumors (SNADETs) have not been elucidated in detail. In this study, we examined the genomic features of incipient SNADETs, such as small lesions resected via endoscopic treatment, using next-generation sequencing (NGS).
METHODS
METHODS
Twenty consecutive patients who underwent endoscopic treatment for SNADETs of less than 20 mm between January and December 2017 were enrolled. Targeted genomic sequencing was performed through NGS using a panel of 160 cancer-related genes. Furthermore, the alteration/mutation frequencies in SNADETs were examined.
RESULTS
RESULTS
The maximum size of the SNADETs examined in this study was 12 mm in diameter. Five SNADETs were classified as low-grade dysplasia (LGD) tumors, while 14 SNADETs were classified as high-grade dysplasia tumors. Only one carcinoma in situ was detected. NGS data for 16 samples were obtained. APC alterations were detected in 81% of samples (13/16). KRAS, BRAF, and TP53 alterations were detected in 25% (4/16), 18.8% (3/16), and 6.3% (1/16) of cases, respectively.
CONCLUSION
CONCLUSIONS
We detected
Identifiants
pubmed: 34584977
doi: 10.1002/jgh3.12632
pii: JGH312632
pmc: PMC8454473
doi:
Types de publication
Journal Article
Langues
eng
Pagination
1071-1077Informations de copyright
© 2021 The Authors. JGH Open published by Journal of Gastroenterology and Hepatology Foundation and John Wiley & Sons Australia, Ltd.
Références
Scand J Gastroenterol. 1994 Jun;29(6):483-7
pubmed: 8079103
J Mol Diagn. 2013 May;15(3):299-311
pubmed: 23531339
Gut. 2002 Jul;51(1):130-1
pubmed: 12077106
Surg Today. 2018 Aug;48(8):765-772
pubmed: 29525853
J Gastroenterol. 2019 Feb;54(2):131-140
pubmed: 29951927
Nat Rev Cancer. 2008 May;8(5):387-98
pubmed: 18432252
Digestion. 2018;97(1):45-51
pubmed: 29393159
Pancreatology. 2018 Sep;18(6):647-654
pubmed: 30055942
J Anus Rectum Colon. 2019 Oct 30;3(4):175-195
pubmed: 31768468
Am J Gastroenterol. 2011 Feb;106(2):357-64
pubmed: 21139577
Cancer Res. 2002 Nov 15;62(22):6451-5
pubmed: 12438234
Dig Endosc. 2014 Apr;26 Suppl 2:16-22
pubmed: 24750143
Am J Gastroenterol. 2017 Nov;112(11):1638
pubmed: 29109501
PLoS One. 2017 Sep 27;12(9):e0184937
pubmed: 28953955
Dig Endosc. 2014 Apr;26 Suppl 2:23-9
pubmed: 24750144
JAMA Oncol. 2017 Nov 1;3(11):1546-1553
pubmed: 28617917
Jpn J Cancer Res. 2001 Jul;92(7):755-61
pubmed: 11473726
Cancer. 1981 Aug 1;48(3):799-819
pubmed: 7248908
Gastrointest Endosc. 2017 Aug;86(2):329-332
pubmed: 28003118
Cancer Metastasis Rev. 2018 Mar;37(1):173-187
pubmed: 29322354
Br J Surg. 2002 Jul;89(7):845-60
pubmed: 12081733
Int J Epidemiol. 1996 Aug;25(4):722-8
pubmed: 8921448
Nat Rev Cancer. 2009 Jul;9(7):489-99
pubmed: 19536109