The region q13-15 of chromosome 12 contains SAS, CDK4, and MDM2 genes that
are rearranged or amplified in a variety of human sarcomas. This study eval
uated SAS gene amplification, and MDM2 and CDK4 protein expression in 20 tu
mor samples of central low-grade osteosarcoma (16 primary, 3 recurrences, 1
lung metastasis). SAS amplification was analyzed by quantitative polymeras
e chain reaction (PCR), while from the same paraffin-embedded samples, MDM2
and CDK4 protein expression was evaluated by immunohistochemistry. MDM2 an
d CDK4 proteins were found strongly expressed in 35% and 65%, respectively,
of the samples. SAS was found amplified in 15% of the samples. These findi
ngs indicate that these genes may be involved in tumorigenesis and progress
ion of low-grade osteosarcoma.