An analysis of genetic transmission in a father and son with osteosarcoma

Familial osteosarcoma is a rare hereditary disease. We present a 37-year-old father and a 17-year-old son who developed osteosarcoma in the left and right distal femurs, respectively, at a three-year interval. They were treated with chemotherapy followed by surgery. Both had positive immunostaining for p53 tumor suppressor gene and HER-2/neu oncogene. The son also exhibited deletion of the retinoblastoma 1 gene. Pulmonary metastasis was detected in the father at the time of diagnosis and 13 months after primary treatment, whereas no distant metastasis was present in the child. The father died 39 months after the diagnosis from primary symptoms, but the son led a disease-free survival a year after completion of treatment. Genetic abnormalities documented in the father and son corroborate the presence of specific genetic alterations in the pathogenesis of osteosarcoma.