title: Hepatocellular Carcinoma in Noncirrhotic Liver with Glycogenotic Foci: Basic Science Meets Genomic Medicine.
abstract: During the past decade, the application of genomic analysis to liver tumors has provided extensive data concerning tumor phenotypes, signatures, outcomes, and prognosis. In this report the authors describe a middle-aged man without known risk factors for liver disease or hepatocellular carcinoma (HCC) who developed a 19-cm HCC in his right lobe. The underlying liver was normal histologically except for multifocal glycogenotic foci similar to those found in experimental chemical carcinogenesis. Precision genomic analysis of this tumor disclosed five alterations with amplifications of genes CCNE1, FGF3 and FGF4, MYCL1, and ARID1A. The roles of these gene mutations and their potential effects in carcinogenesis in this case are discussed.
authors.affiliation: Department of Pathology and Cell Biology, Columbia University Medical Center, New York, New York.
authors.forename: Jay H
authors.initials: JH
authors.lastname: Lefkowitch
authors.affiliation: Department of Pathology and Cell Biology, Columbia University Medical Center, New York, New York.
authors.forename: Stephen M
authors.initials: SM
authors.lastname: Lagana
authors.affiliation: Department of Surgery (Liver Division) and Center for Liver Disease and Transplantation, Columbia University Medical Center, New York, New York.
authors.forename: Tomoaki
authors.initials: T
authors.lastname: Kato
mesh_terms: D006528:Carcinoma, Hepatocellular / Q000150:complications / Q000175:diagnosis* / Q000235:genetics; D019927:Cyclin E / Q000235:genetics; D004268:DNA-Binding Proteins; D051518:Fibroblast Growth Factor 3 / Q000235:genetics; D051519:Fibroblast Growth Factor 4 / Q000235:genetics; D023281:Genomics; D006008:Glycogen Storage Disease / Q000150:complications / Q000175:diagnosis*; D006801:Humans; D008099:Liver / Q000473:pathology*; D008113:Liver Neoplasms / Q000150:complications / Q000175:diagnosis* / Q000235:genetics; D008297:Male; D008875:Middle Aged; D009687:Nuclear Proteins / Q000235:genetics; D015513:Oncogene Proteins / Q000235:genetics; D016271:Proto-Oncogene Proteins c-myc / Q000235:genetics; D014157:Transcription Factors / Q000235:genetics
chemical_list: C112476:ARID1A protein, human; C475820:CCNE1 protein, human; D019927:Cyclin E; D004268:DNA-Binding Proteins; C496444:FGF3 protein, human; C496445:FGF4 protein, human; D051518:Fibroblast Growth Factor 3; D051519:Fibroblast Growth Factor 4; C000596782:MYCL protein, human; D009687:Nuclear Proteins; D015513:Oncogene Proteins; D016271:Proto-Oncogene Proteins c-myc; D014157:Transcription Factors