Hepatocellular Carcinoma in Noncirrhotic Liver with Glycogenotic Foci: Basic Science Meets Genomic Medicine

Semin Liver Dis. 2015 Nov;35(4):450-6. doi: 10.1055/s-0035-1568986. Epub 2015 Dec 16.

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.

Publication types

  • Case Reports

MeSH terms

  • Carcinoma, Hepatocellular / complications
  • Carcinoma, Hepatocellular / diagnosis*
  • Carcinoma, Hepatocellular / genetics
  • Cyclin E / genetics
  • DNA-Binding Proteins
  • Fibroblast Growth Factor 3 / genetics
  • Fibroblast Growth Factor 4 / genetics
  • Genomics*
  • Glycogen Storage Disease / complications
  • Glycogen Storage Disease / diagnosis*
  • Humans
  • Liver / pathology*
  • Liver Neoplasms / complications
  • Liver Neoplasms / diagnosis*
  • Liver Neoplasms / genetics
  • Male
  • Middle Aged
  • Nuclear Proteins / genetics
  • Oncogene Proteins / genetics
  • Proto-Oncogene Proteins c-myc / genetics
  • Transcription Factors / genetics

Substances

  • ARID1A protein, human
  • CCNE1 protein, human
  • Cyclin E
  • DNA-Binding Proteins
  • FGF3 protein, human
  • FGF4 protein, human
  • Fibroblast Growth Factor 3
  • Fibroblast Growth Factor 4
  • MYCL protein, human
  • Nuclear Proteins
  • Oncogene Proteins
  • Proto-Oncogene Proteins c-myc
  • Transcription Factors