Mutation at codon 249 of p53 gene in a human hepatoblastoma

G-to-T transversion at codon 249 of the p53 gene has been shown to be specifically associated with human hepatocellular carcinomas, particularly that subset associated with exposure to the chemical hepatocarcinogen aflatoxin B₁. We surveyed 47 North American adult hepatocellular carcinomas and three childhood liver tumors for codon 249 mutation. We report here a case of childhood hepatoblastoma in a patient, without known exposure to aflatoxin B₁ or hepatitis B or C virus, whose tumor had a mutation at codon 249 involving G-to-T transversion.