Genomic profiling of intestinal/mixed‐type superficial non‐ampullary duodenal epithelial tumors. Issue 9 (3rd August 2021)

• Record Type: Journal Article
• Authors: Miyamoto, Shuichi; Suda, Goki; Ishikawa, Marin; Hayashi, Hideyuki; Nimura, Satoshi; Matsuno, Yoshihiro; Mori, Ryo; Tanishima, Shigeki; Kudo, Takahiko; Takagi, Tomofumi; Yamamoto, Yoshiya; Ono, Shoko; Shimizu, Yuichi; Sakamoto, Naoya
• Is Part Of: JGH open. Volume 5:Issue 9(2021)
• Page Start: 1071
• Page End: 1077
• Publication Date: 2021-08-03
• Subjects: duodenal cancer -- genomic testing -- next‐generation sequencing -- superficial non‐ampullary duodenal epithelial tumor
• DOI: 10.1002/jgh3.12632
• Languages: English
• ISSNs: 2397-9070

Abstract

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. Abstract : APC alterations were detected in most small superficial non‐ampullary duodenal epithelial tumors (SNADETs) resected via endoscopic treatment. Even in SNADETs classified as small low‐grade dysplasia, KRAS and BRAF alterations were present in a few samples.