The development of several types of human tumors is related to amplifi
cation of genes that are involved in cell growth. The protein products
of these genes give the cells a selective growth advantage. The q13-1
5 region of chromosome 12 is frequently altered in human sarcomas, and
the SAS gene has been identified in an amplification unit mapping to
this region. Gene amplification of SAS was analyzed to determine the f
requency of genetic alteration of this gene in osteosarcoma. Using Sou
thern blot analysis as well as quantitative polymerase chain reaction.
SAS was found to be amplified in 10 (36%) of 28 osteosarcomas. Gene a
mplification was evaluated in subtypes of osteosarcoma. All seven surf
ace osteosarcomas displayed amplified SAS. In contrast, SAS was amplif
ied in only two (13%) of 15 intramedullary osteosarcomas. The finding
that all surface osteosarcomas demonstrated SAS gene amplification sug
gests that this gene may play a role in the pathogenesis of osteosarco
ma subtypes and that surface osteosarcoma may be genetically different
from high-grade intramedullary osteosarcoma.