Osteosarcoma in blood relatives

Osteosarcoma. is an uncommon tumor. Family occurrence of osteosarcoma is ev en rarer. Four cases of osteosarcoma in two siblings and in a father and so n treated at our Institute with surgery and chemotherapy are reported. Thes e patients had no other tumors in their family history, and had negative p5 3 mutations in exons 5-9 by SSCP analysis. RE, CDK4, MDM2, c-myc, c-fos, an d p53 gene expression, which are the major genes involved in osteosarcoma s usceptibility, were studied. Our results revealed an inactive form of p53 s poradically seen in the samples, a total loss of Rb protein expression, an increased expression of Cdk4, MDM2, c-fos, and c-myc proteins which literat ure currently reports being the principal alterations found in osteosarcoma . These findings confirm that specific genetic alterations occur in osteosa rcoma pathogenesis.