Osteosarcoma in blood relatives.

A Longhi, M S Benassi, L Molendini, M Macchiagodena, P Picci, G Bacci

Journal: Oncology reports 2001;8(1):131-6

PMID: 11115584

Abstract

Osteosarcoma is an uncommon tumor. Family occurrence of osteosarcoma is even rarer. Four cases of osteosarcoma in two siblings and in a father and son treated at our Institute with surgery and chemotherapy are reported. These patients had no other tumors in their family history, and had negative p53 mutations in exons 5-9 by SSCP analysis. RB, CDK4, MDM2, c-myc, c-fos, and p53 gene expression, which are the major genes involved in osteosarcoma susceptibility, were studied. Our results revealed an inactive form of p53 sporadically seen in the samples, a total loss of Rb protein expression, an increased expression of Cdk4, MDM2, c-fos, and c-myc proteins which literature currently reports being the principal alterations found in osteosarcoma. These findings confirm that specific genetic alterations occur in osteosarcoma pathogenesis.

Address: Service of Chemotherapy, Istituti Ortopedici Rizzoli, 40136 Bologna, Italy. [email protected]

DOI: 10.3892/or.8.1.131