For hepatocellular carcinoma, only scarce and controversial data on CDKN2 a
lterations are available. A high rate of mutations in a Chinese study contr
asts with a low rate found in Japanese tumors and a CDKN2 germline mutation
in 4/26 Swiss tumors examined. We analyzed 23 hepatocellular carcinomas fr
om German patients for homozygous deletions of CDKN2 by coamplification wit
h the human tyrosine hydroxylase (TH) gene and for CDKN2 mutations by PCR-s
ingle strand conformation polymorphism analysis and direct DNA sequencing.
Our results indicate the lack of homozygous deletions. In one tumor, DNA se
quencing showed a GCG-ACG (alanine-threonine) substitution at codon 148, a
polymorphism in exon 2 of CDKN2. We conclude that the alteration of CDKN2 b
y deletion or mutation appears not to be a frequent event in hepatocarcinog
enesis in German patients. Copyright (C) 1999 S. Karger AG, Basel.