Whole exome sequencing and deep sequencing of esophageal squamous cell carcinoma and adenocarcinoma in Japanese patients using the Japanese version of the Genome Atlas, JCGA.

Autor: Booka E; Division of Esophageal Surgery, Shizuoka Cancer Center Hospital, 1007 Shimonagakubo, Nagaizumi-cho, Sunto-gun, Shizuoka, 411-8777, Japan., Tsubosa Y; Division of Esophageal Surgery, Shizuoka Cancer Center Hospital, 1007 Shimonagakubo, Nagaizumi-cho, Sunto-gun, Shizuoka, 411-8777, Japan. y.tsubosa@scchr.jp., Yokota T; Division of Gastrointestinal Oncology, Shizuoka Cancer Center Hospital, Shizuoka, Japan., Mayanagi S; Division of Esophageal Surgery, Shizuoka Cancer Center Hospital, 1007 Shimonagakubo, Nagaizumi-cho, Sunto-gun, Shizuoka, 411-8777, Japan., Ishii K; Division of Esophageal Surgery, Shizuoka Cancer Center Hospital, 1007 Shimonagakubo, Nagaizumi-cho, Sunto-gun, Shizuoka, 411-8777, Japan., Urakami K; Cancer Diagnostic Research Division, Shizuoka Cancer Center Research Institute, Shizuoka, Japan., Ohshima K; Medical Genetics Division, Shizuoka Cancer Center Research Institute, Shizuoka, Japan., Ohnami S; Cancer Diagnostic Research Division, Shizuoka Cancer Center Research Institute, Shizuoka, Japan., Nagashima T; Cancer Diagnostic Research Division, Shizuoka Cancer Center Research Institute, Shizuoka, Japan.; SRL, Tokyo, Japan., Yamaguchi K; Shizuoka Cancer Center, Shizuoka, Japan.
Jazyk: angličtina
Zdroj: Esophagus : official journal of the Japan Esophageal Society [Esophagus] 2021 Oct; Vol. 18 (4), pp. 743-752. Date of Electronic Publication: 2021 Apr 07.
DOI: 10.1007/s10388-021-00835-z
Abstrakt: Background: Recent comprehensive mutation analyses have revealed a relatively small number of driver mutations in esophageal cancer, implicating a limited number of molecular targets, most of which are also implicated in squamous cell carcinoma.
Methods: In this study, we investigated genetic alterations in 44 esophageal squamous cell carcinomas (ESCC) and 8 adenocarcinomas (EAC) from Japanese patients as potential molecular targets, based on data from the Japanese version of The Genome Atlas (JCGA).
Results: Esophageal cancer was characterized by TP53 somatic mutations in ESCC (39/44, 88.6%) and EAC (5/8, 62.5%). In addition to TP53 mutations, somatic mutations in NFE2L2 (16/44, 36.4%), CDKN2A (7/44, 15.9%), and KMT2D (7/44, 15.9%) were more frequently detected in ESCC than in EAC. WRN-truncated type mutations that lead to genomic instability correlate with EAC, but not ESCC. ESCC samples were enriched in ALDH2-associated mutational signature 16 as well as the APOBEC signature. Patients with FAT2 mutations had significantly poorer overall survival compared with those with wild-type status at FAT2 (p < 0.05). Patients with EP300 or PTPRD mutations also had poor progression-free survival compared with respective wild-types (p < 0.05 or p < 0.001).
Conclusions: These findings may facilitate future precision medicine approaches based on genomic profiling in ESCC and EAC.
(© 2021. The Author(s).)
Databáze: MEDLINE
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