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Genomic characterization of esophageal squamous cellcarcinoma:insights from next-generation sequencing

World Journal of Gastroenterology 2016年第7期22卷 2284-2293页

作者： Yasushi Sasaki Miyuki Tamura Ryota Koyama takafumi nakagaki Yasushi Adachi Takashi Tokino Department of Medical Genome Sciences Research Institute for Frontier MedicineSapporo Medical UniversitySapporo 060-8556Japan Department of Gastroenterology Rheumatology and Clinical ImmunologySapporo Medical University School of MedicineSapporo 060-8543Japan

Two major types of cancer occur in the esophagus: squamous cell carcinoma, which is associated with chronic smoking and alcohol consumption, and adenocarcinoma, which typically arises in gastric reflux-associated Barrett's esophagus. Although there is increasing incidence of esophageal adenocarcinoma in Western counties, esophageal squamous cell carcinoma(ESCC) accounts for most esophageal malignancies in East Asia, including China and Japan. Technological advances allowing for massively parallel, high-throughput next-generation sequencing(NGS) of DNA have enabled comprehensive characterization of somatic mutations in large numbers of tumor samples. Recently, several studies were published in which whole exome or whole genome sequencing was performed in ESCC tumors and compared with matched normal DNA. Mutations were validated in several genes, including in TP53, CDKN2 A, FAT1, NOTCH1, PIK3 CA, KMT2 D and NFE2L2, which had been previously implicated in ESCC. Several new recurrent alterations have also been identified in ESCC. Combining the clinicopathological characteristics of patients with information obtained from NGS studies may lead to the development of effective diagnostic and therapeutic approaches for ESCC. As this research becomes more prominent, it is important that gastroenterologist become familiar with the various NGS technologies and the results generated using these methods. In the present study, we describe recent research approaches using NGS in ESCC.

关键词： esophageal squamous cell carcinoma next-generation sequencing somatic mutation Drivermutation copy number variant

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