Radig K, Schneider-Stock R, Oda Y, Neumann W, Mittler U, Roessner A
Department of Pathology, Oto-von-Guericke-University, Magdeburg, Germany.
Gen Diagn Pathol. 1996 Jun;142(1):25-32.
In this study, we analyzed the spectrum of p53 tumor suppressor gene mutations in 40 highly malignant osteosarcomas, one osteosarcoma metastasis, and one osteoblastoma with malignant transformation. Using predominantly formalin-fixed and paraffin-embedded material, we performed polymerase chain reaction-single strand conformation polymorphism (PCR-SSCP) analysis of exons 4-8 and direct sequencing. Molecular genetic findings were correlated with immunohistochemical detection of p53 protein. A total of eight alterations (19%) were identified. Two splice mutations were detected in one case of a highly malignant osteosarcoma and its metastasis, and in one osteoblastoma with focal malignant transformation. Four of the mutations were missense mutations, one was of the silent type. These data correspond to the results found in the literature on bone and soft tissue tumors. Therefore, retrospective studies of p53 gene turn out to be quite appropriate for molecular biologic examinations.
在本研究中，我们分析了40例高恶性骨肉瘤、1例骨肉瘤转移灶以及1例发生恶性转化的成骨细胞瘤中p53肿瘤抑制基因突变谱。主要使用福尔马林固定、石蜡包埋的材料，我们对外显子4 - 8进行了聚合酶链反应 - 单链构象多态性（PCR - SSCP）分析及直接测序。分子遗传学研究结果与p53蛋白的免疫组化检测结果相关。共发现8处改变（19%）。在1例高恶性骨肉瘤及其转移灶以及1例伴有局灶性恶性转化的成骨细胞瘤中检测到2个剪接突变。其中4个突变为错义突变，1个为沉默型突变。这些数据与关于骨和软组织肿瘤的文献报道结果相符。因此，对p53基因的回顾性研究结果证明非常适合进行分子生物学检查。
