Longhi A, Benassi M S, Molendini L, Macchiagodena M, Picci P, Bacci G
Service of Chemotherapy, Istituti Ortopedici Rizzoli, 40136 Bologna, Italy.
Oncol Rep. 2001 Jan-Feb;8(1):131-6. doi: 10.3892/or.8.1.131.
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.
骨肉瘤是一种罕见的肿瘤。骨肉瘤的家族性发病更为罕见。本文报告了我院收治的两对兄弟姐妹及一对父子共4例骨肉瘤患者，均接受了手术和化疗。这些患者家族史中无其他肿瘤，经单链构象多态性分析，其外显子5 - 9的p53基因无突变。对与骨肉瘤易感性相关的主要基因RB、CDK4、MDM2、c - myc、c - fos和p53的基因表达进行了研究。我们的结果显示，样本中偶尔可见无活性形式的p53，Rb蛋白表达完全缺失，Cdk4、MDM2、c - fos和c - myc蛋白表达增加，目前文献报道这些是骨肉瘤中发现的主要改变。这些发现证实了骨肉瘤发病机制中存在特定的基因改变。
