Kar S, Jaffe R, Carr B I
Pittsburgh Transplant Institute, Pennsylvania.
Hepatology. 1993 Sep;18(3):566-9.
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.
p53基因第249密码子的G到T颠换已被证明与人类肝细胞癌特别相关，尤其是与接触化学致癌物黄曲霉毒素B1相关的那一部分。我们调查了47例北美成人肝细胞癌和3例儿童肝肿瘤的第249密码子突变情况。我们在此报告1例儿童肝母细胞瘤病例，该患儿没有已知的黄曲霉毒素B1、乙型肝炎或丙型肝炎病毒接触史，但其肿瘤在第249密码子处发生了G到T颠换突变。
