ArticleEsophagus : official journal of the Japan Esophageal Society2021
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.
Article in Esophagus : official journal of the Japan Esophageal Society, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
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9 citing papers in PubMed, 17 citations in OpenAlex.
- Site-Specific Genomic Markers Associated with Outcomes of PD-1 Blockade in Gastric and Esophagogastric Junction Cancer: Analysis of Japan's C-CAT Registry.BioDrugs : clinical immunotherapeutics, biopharmaceuticals and gene therapy · 2026Article
- Article
- Recent advances in the study of FAT family genes in lung cancer.Discover oncology · 2025Review
- A case of esophageal squamous cell carcinoma with epidermization showing a unique morphology.Clinical journal of gastroenterology · 2025Article
- Genomic alterations in two patients with esophageal carcinosarcoma identified by whole genome sequencing: a case report.Surgical case reports · 2024Article
- FAT2 mutation is associated with better prognosis and responsiveness to immunotherapy in uterine corpus endometrial carcinoma.Cancer medicine · 2023Article
- Potent molecular-targeted therapies for advanced esophageal squamous cell carcinoma.Therapeutic advances in medical oncology · 2023Review
- Alcohol Consumption,Life (Basel, Switzerland) · 2022Review
- Impact of Immune-related Adverse Events on Nivolumab Efficacy in Patients With Upper Gastrointestinal Cancer.In vivo (Athens, Greece)Article
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10 authors at 1 institution in 1 country.
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Abstract
backgroundRecent 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.
methodsIn 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).
resultsEsophageal 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).
conclusionsThese findings may facilitate future precision medicine approaches based on genomic profiling in ESCC and EAC.
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