Osteosarcoma in blood relatives

Research output: Contribution to journalArticlepeer-review

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 osteo-sarcoma 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.

Original languageEnglish
Pages (from-to)131-136
Number of pages6
JournalOncology Reports
Volume8
Issue number1
Publication statusPublished - 2001

Keywords

  • Familiarity
  • Oncogene evaluation
  • Ostcosarcoma

ASJC Scopus subject areas

  • Cancer Research
  • Oncology

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