Mutational inactivation of the cyclin-dependent kinase inhibitors (CDKIs) (
p16(CDKN2a)) tumor suppressor gene has been found in a variety of human tum
or types. To investigate the involvement of CDKI abnormality in clear cell
chondrosarcoma, alterations of CDKIs were examined in clear cell chondrosar
coma tissues using a quantitative DNA/PCR, PCR-SSCP. Two of 38 specimens (5
.2%) we analyzed showed abnormally low levels of p16(CDKN2a) amplification,
suggesting that the allelic deletion of the gene might be low frequent eve
nt in progression of this tumor. For detection of subtle sequence alteratio
ns such as point mutations, we performed SSCP analysis of the entire coding
region of the pl6(CDKN2a) gene. No altered SSCP patterns were found in 38
clear cell chondrosarcoma specimens. This study reflects the very low incid
ence of genetic alterations of the p16(CDKN2a) gene in clear cell chondrosa
rcoma. Therefore, we conclude that the alteration of the p16(CDKN2a) gene i
s not involved significantly in the development of clear cell chondrosarcom
a.