METHYLTHIOADENOSINE PHOSPHORYLASE (MTAP) GENE DELETION IN OSTEOSARCOMA

alterations may contribute to the poor prognosis of osteosarcoma patients. This study is the first to investigate the prevalence of genetic and functional alterations of MTAP gene in osteosarcoma cell lines and a large clinical series of osteosarcomas. Material and methods. Three osteosarcoma cell lines (HOS, SaOS-2, U2OS) and 96 high-grade osteosarcoma patient samples were analyzed. Deletions of exons 2 to 7 were studied by PCR and mutational analysis by SSCP in genomic DNA. Quantification of message was performed using a fluorescent RT-PCR in the cell lines, and by semiquantitative RT-PCR in the patient samples. β-actin was used a a positive control. Finally, protein expression was measured by Western blot and immunohistochemistry (primary antibody was a kind gift of Dr. D. Carson).