Genetic profiles of Barrett’s esophagus and esophageal adenocarcinoma in Japanese patients
Abstract The genetic characteristics of Barrett’s esophagus (BE) and esophageal adenocarcinoma (EAC) in the Japanese population is unclear. This study aims to investigate the genetic characteristics from nondysplastic BE (NDBE) to early EAC in Japan. Clinical information was collected. Moreover, the...
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2021
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oai:doaj.org-article:e213bb3c99c349dcbcdcbcd125e3cbfb2021-12-02T19:04:01ZGenetic profiles of Barrett’s esophagus and esophageal adenocarcinoma in Japanese patients10.1038/s41598-021-97249-92045-2322https://doaj.org/article/e213bb3c99c349dcbcdcbcd125e3cbfb2021-09-01T00:00:00Zhttps://doi.org/10.1038/s41598-021-97249-9https://doaj.org/toc/2045-2322Abstract The genetic characteristics of Barrett’s esophagus (BE) and esophageal adenocarcinoma (EAC) in the Japanese population is unclear. This study aims to investigate the genetic characteristics from nondysplastic BE (NDBE) to early EAC in Japan. Clinical information was collected. Moreover, the genetic profile of NDBE without concurrent dysplasia, early EAC, and surrounding BE were also investigated using endoscopic biopsy samples and formalin-fixed, paraffin-embedded specimens from Japanese patients by targeted next-generation sequencing. Immunohistochemical staining for p53 was also performed for EAC lesions. Targeted NGS was performed for 33 cases with 77 specimens. No significant difference exists in the NDBE group between the number of putative drivers per lesion in the short-segment Barrett’s esophagus (SSBE) and long-segment Barrett’s esophagus (LSBE) [0 (range, 0–1) vs. 0 (range, 0–1). p = 1.00]. TP53 putative drivers were found in two patients (16.7%) with nondysplastic SSBE. TP53 was the majority of putative drivers in both BE adjacent to EAC and EAC, accounting for 66.7% and 66.7%, respectively. More putative drivers per lesion were found in the EAC than in the NDBE group [1 (range, 0–3) vs. 0 (range, 0–1). p < 0.01]. The genetic variants of TP53 in the Japanese early EAC were similar to those in western countries. However, TP53 putative drivers were detected even in Japanese patients with nondysplastic SSBE. This is significant because such nondysplastic SSBE might have higher risk of progressing to high-grade dysplasia or EAC. The risks of progression may not be underestimated and appropriate follow-ups may be necessary even in patients with SSBE. Trial registration: This study was registered at the University Hospital Medical Information Network (UMIN000034247).Mamoru TokunagaKenichiro OkimotoNaoki AkizueKentaro IshikawaYosuke HirotsuKenji AmemiyaMasayuki OtaKeisuke MatsusakaMotoi NishimuraKazuyuki MatsushitaTsubasa IshikawaAriki NagashimaWataru ShiratoriTatsuya KanekoHirotaka OuraKengo KanayamaYuki OhtaTakashi TaidaKeiko SaitoTomoaki MatsumuraTetsuhiro ChibaHitoshi MochizukiMakoto AraiJun KatoJun-ichiro IkedaMasao OmataNaoya KatoNature PortfolioarticleMedicineRScienceQENScientific Reports, Vol 11, Iss 1, Pp 1-11 (2021) |
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Medicine R Science Q Mamoru Tokunaga Kenichiro Okimoto Naoki Akizue Kentaro Ishikawa Yosuke Hirotsu Kenji Amemiya Masayuki Ota Keisuke Matsusaka Motoi Nishimura Kazuyuki Matsushita Tsubasa Ishikawa Ariki Nagashima Wataru Shiratori Tatsuya Kaneko Hirotaka Oura Kengo Kanayama Yuki Ohta Takashi Taida Keiko Saito Tomoaki Matsumura Tetsuhiro Chiba Hitoshi Mochizuki Makoto Arai Jun Kato Jun-ichiro Ikeda Masao Omata Naoya Kato Genetic profiles of Barrett’s esophagus and esophageal adenocarcinoma in Japanese patients |
| description |
Abstract The genetic characteristics of Barrett’s esophagus (BE) and esophageal adenocarcinoma (EAC) in the Japanese population is unclear. This study aims to investigate the genetic characteristics from nondysplastic BE (NDBE) to early EAC in Japan. Clinical information was collected. Moreover, the genetic profile of NDBE without concurrent dysplasia, early EAC, and surrounding BE were also investigated using endoscopic biopsy samples and formalin-fixed, paraffin-embedded specimens from Japanese patients by targeted next-generation sequencing. Immunohistochemical staining for p53 was also performed for EAC lesions. Targeted NGS was performed for 33 cases with 77 specimens. No significant difference exists in the NDBE group between the number of putative drivers per lesion in the short-segment Barrett’s esophagus (SSBE) and long-segment Barrett’s esophagus (LSBE) [0 (range, 0–1) vs. 0 (range, 0–1). p = 1.00]. TP53 putative drivers were found in two patients (16.7%) with nondysplastic SSBE. TP53 was the majority of putative drivers in both BE adjacent to EAC and EAC, accounting for 66.7% and 66.7%, respectively. More putative drivers per lesion were found in the EAC than in the NDBE group [1 (range, 0–3) vs. 0 (range, 0–1). p < 0.01]. The genetic variants of TP53 in the Japanese early EAC were similar to those in western countries. However, TP53 putative drivers were detected even in Japanese patients with nondysplastic SSBE. This is significant because such nondysplastic SSBE might have higher risk of progressing to high-grade dysplasia or EAC. The risks of progression may not be underestimated and appropriate follow-ups may be necessary even in patients with SSBE. Trial registration: This study was registered at the University Hospital Medical Information Network (UMIN000034247). |
| format |
article |
| author |
Mamoru Tokunaga Kenichiro Okimoto Naoki Akizue Kentaro Ishikawa Yosuke Hirotsu Kenji Amemiya Masayuki Ota Keisuke Matsusaka Motoi Nishimura Kazuyuki Matsushita Tsubasa Ishikawa Ariki Nagashima Wataru Shiratori Tatsuya Kaneko Hirotaka Oura Kengo Kanayama Yuki Ohta Takashi Taida Keiko Saito Tomoaki Matsumura Tetsuhiro Chiba Hitoshi Mochizuki Makoto Arai Jun Kato Jun-ichiro Ikeda Masao Omata Naoya Kato |
| author_facet |
Mamoru Tokunaga Kenichiro Okimoto Naoki Akizue Kentaro Ishikawa Yosuke Hirotsu Kenji Amemiya Masayuki Ota Keisuke Matsusaka Motoi Nishimura Kazuyuki Matsushita Tsubasa Ishikawa Ariki Nagashima Wataru Shiratori Tatsuya Kaneko Hirotaka Oura Kengo Kanayama Yuki Ohta Takashi Taida Keiko Saito Tomoaki Matsumura Tetsuhiro Chiba Hitoshi Mochizuki Makoto Arai Jun Kato Jun-ichiro Ikeda Masao Omata Naoya Kato |
| author_sort |
Mamoru Tokunaga |
| title |
Genetic profiles of Barrett’s esophagus and esophageal adenocarcinoma in Japanese patients |
| title_short |
Genetic profiles of Barrett’s esophagus and esophageal adenocarcinoma in Japanese patients |
| title_full |
Genetic profiles of Barrett’s esophagus and esophageal adenocarcinoma in Japanese patients |
| title_fullStr |
Genetic profiles of Barrett’s esophagus and esophageal adenocarcinoma in Japanese patients |
| title_full_unstemmed |
Genetic profiles of Barrett’s esophagus and esophageal adenocarcinoma in Japanese patients |
| title_sort |
genetic profiles of barrett’s esophagus and esophageal adenocarcinoma in japanese patients |
| publisher |
Nature Portfolio |
| publishDate |
2021 |
| url |
https://doaj.org/article/e213bb3c99c349dcbcdcbcd125e3cbfb |
| work_keys_str_mv |
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