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Genomic profiling of intestinal/mixed-type superficial non-ampullary duodenal epithelial tumors

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Title: Genomic profiling of intestinal/mixed-type superficial non-ampullary duodenal epithelial tumors
Authors: Miyamoto, Shuichi Browse this author
Suda, Goki Browse this author →KAKEN DB
Ishikawa, Marin Browse this author
Hayashi, Hideyuki Browse this author
Nimura, Satoshi Browse this author
Matsuno, Yoshihiro Browse this author
Mori, Ryo Browse this author
Tanishima, Shigeki Browse this author
Kudo, Takahiko Browse this author
Takagi, Tomofumi Browse this author
Yamamoto, Yoshiya Browse this author
Ono, Shoko Browse this author
Shimizu, Yuichi Browse this author
Sakamoto, Naoya Browse this author →KAKEN DB
Keywords: duodenal cancer
genomic testing
next-generation sequencing
superficial non-ampullary duodenal epithelial tumor
Issue Date: Sep-2021
Publisher: John Wiley & Sons
Journal Title: JGH open
Volume: 5
Issue: 9
Start Page: 1071
End Page: 1077
Publisher DOI: 10.1002/jgh3.12632
Abstract: Background and Aim: 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: 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: 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: We detected APC alterations in most small SNADETs resected via endoscopic treatment, from LGD to carcinoma samples. Even in SNADETs classified as small LGD exhibited KRAS and BRAF alterations.
Type: article
Appears in Collections:医学院・医学研究院 (Graduate School of Medicine / Faculty of Medicine) > 雑誌発表論文等 (Peer-reviewed Journal Articles, etc)

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