title: Recent Advances From Basic and Clinical Studies of Esophageal Squamous Cell Carcinoma.
abstract: Esophageal squamous cell carcinoma (ESCC) is one of the most aggressive squamous cell carcinomas and is highly prevalent in Asia. Alcohol and its metabolite, acetaldehyde, are considered definite carcinogens for the esophagus. Polymorphisms in the aldehyde dehydrogenase 2 gene, which encodes an enzyme that eliminates acetaldehyde, have been associated with esophageal carcinogenesis. Studies of the mutagenic and carcinogenic effects of acetaldehyde support this observation. Several recent large-scale comprehensive analyses of the genomic alterations in ESCC have shown a high frequency of mutations in genes such as TP53 and others that regulate the cell cycle or cell differentiation. Moreover, whole genome and whole exome sequencing studies have frequently detected somatic mutations, such as G:C→A:T transitions or G:C→C:G transversions, in ESCC tissues. Genomic instability, caused by abnormalities in the Fanconi anemia DNA repair pathway, is also considered a pathogenic mechanism of ESCC. Advances in diagnostic techniques such as magnifying endoscopy with narrow band imaging or positron emission tomography have increased the accuracy of diagnosis of ESCC. Updated guidelines from the National Comprehensive Cancer Network standardize the practice for the diagnosis and treatment of esophageal cancer. Patients with ESCC are treated endoscopically or with surgery, chemotherapy, or radiotherapy, based on tumor stage. Minimally invasive treatments help improve the quality of life of patients who undergo such treatments. We review recent developments in the diagnosis and treatment of ESCC and advances gained from basic and clinical research.
authors.affiliation: Department of Therapeutic Oncology, Kyoto University Graduate School of Medicine, Kyoto, Japan; Department of Clinical Oncology, Kyoto University Hospital Cancer Center, Kyoto, Japan.
authors.forename: Shinya
authors.initials: S
authors.lastname: Ohashi
authors.affiliation: Department of Gastroenterology and Hepatology, Kyoto University Graduate School of Medicine, Kyoto, Japan.
authors.forename: Shin'ichi
authors.initials: S
authors.lastname: Miyamoto
authors.affiliation: Department of Gastroenterology and Hepatology, Kyoto University Graduate School of Medicine, Kyoto, Japan.
authors.forename: Osamu
authors.initials: O
authors.lastname: Kikuchi
authors.affiliation: Department of Gastroenterology and Hepatology, Kyoto University Graduate School of Medicine, Kyoto, Japan.
authors.forename: Tomoyuki
authors.initials: T
authors.lastname: Goto
authors.affiliation: Department of Therapeutic Oncology, Kyoto University Graduate School of Medicine, Kyoto, Japan; Department of Clinical Oncology, Kyoto University Hospital Cancer Center, Kyoto, Japan.
authors.forename: Yusuke
authors.initials: Y
authors.lastname: Amanuma
authors.affiliation: Department of Therapeutic Oncology, Kyoto University Graduate School of Medicine, Kyoto, Japan; Department of Clinical Oncology, Kyoto University Hospital Cancer Center, Kyoto, Japan. Electronic address: mmuto@kuhp.kyoto-u.ac.jp.
authors.forename: Manabu
authors.initials: M
authors.lastname: Muto
mesh_terms: D000428:Alcohol Drinking / Q000009:adverse effects / Q000453:epidemiology; D000818:Animals; D014408:Biomarkers, Tumor / Q000235:genetics / Q000378:metabolism; D002294:Carcinoma, Squamous Cell / Q000453:epidemiology / Q000235:genetics / Q000378:metabolism / Q000473:pathology / Q000628:therapy / Q000821:virology; D002471:Cell Transformation, Neoplastic / Q000235:genetics / Q000378:metabolism / Q000473:pathology; D003131:Combined Modality Therapy; D004938:Esophageal Neoplasms / Q000453:epidemiology / Q000235:genetics / Q000378:metabolism / Q000473:pathology / Q000628:therapy / Q000821:virology; D000077277:Esophageal Squamous Cell Carcinoma; D020022:Genetic Predisposition to Disease; D006801:Humans; D008019:Life Style; D009367:Neoplasm Staging; D030361:Papillomavirus Infections / Q000453:epidemiology / Q000821:virology; D011237:Predictive Value of Tests; D012307:Risk Factors; D015398:Signal Transduction; D012907:Smoking / Q000009:adverse effects / Q000453:epidemiology; D016896:Treatment Outcome
chemical_list: D014408:Biomarkers, Tumor
keywords: Acetaldehyde; Aldehyde Dehydrogenase 2; Field Cancerization; Genetic Polymorphism; Squamous Differentiation