Human hepatocellular carcinoma is characterized by a highly consistent pattern of genomic imbalances, including frequent loss of 16q23.1-24.1

Comparative genomic hybridization (CGH) analysis was used to identify chrom osomal imbalances in 52 human primary hepatocellular carcinomas (HCCs). The most prominent changes were gains of part or all of chromosome arms 8q (83 % of cases) and 1q (73%) and loss of 16q (63%). Other commonly overrepresen ted sites were 5p, 7q, and Xq. Recurrent sites of DNA sequence amplificatio n included 8q23-24 (five cases) and 11q13-14 (four cases). Other frequently underrepresented sites were 4q, 8p, 16p, and 17p. Taken collectively, thes e findings and data from other CGH studies of HCCs define a subset of chrom osome segments that are consistently over- or underrepresented and highligh t sites of putative oncogenes and tumor suppressor genes, respectively, inv olved in hepatocellular oncogenesis. Loss of heterozygosity analysis with a panel of polymorphic microsatellite markers distributed along 16q defined a minimal region of chromosomal loss at 16q23.1-24.1, suggesting that this region harbors a tumor suppressor gene whose loss/inactivation may contribu te to the pathogenesis of many HCCs. (C) 2001 Wiley-Liss, Inc.