Taubert H, Berger D, Hinze R, Meye A, Würl P, Hogendoorn P C, Holzhausen H J, Schmidt H, Rath F W
Institute of Pathology, Martin Luther University of Halle-Wittenberg, Halle/Saale, Germany.
Cancer Lett. 1998 Jan 30;123(2):147-51. doi: 10.1016/s0304-3835(97)00423-0.
Both tumor suppressor genes p53 and p16(INK4A) play a crucial role in the control of cell cycle and tumor development. In this study 19 malignant fibrous histiocytomas of the bone (MFH-b), a very rare sarcoma entity, were investigated for mutations in p53 and p16 genes by a PCR-SSCP-sequencing analysis. In the tumor samples two p53 mutations and two polymorphisms (one in the p53 gene and one in the p16 gene) were found. The occurrence rate for p53 mutations and the absence of p16 mutations in MFH-b are comparable to the findings for MFH of soft tissues (MFH-st) and osteosarcomas, suggesting that p53 rather than p16 may play a role in tumorigenesis of MFH-b.
肿瘤抑制基因p53和p16(INK4A)在细胞周期调控和肿瘤发展过程中均发挥着关键作用。在本研究中，通过聚合酶链反应-单链构象多态性-测序分析，对19例骨恶性纤维组织细胞瘤（MFH-b，一种极为罕见的肉瘤实体）的p53和p16基因中的突变情况展开了调查。在肿瘤样本中发现了两个p53突变和两个多态性位点（一个在p53基因中，一个在p16基因中）。MFH-b中p53突变的发生率以及p16未发生突变的情况与软组织恶性纤维组织细胞瘤（MFH-st）和骨肉瘤的研究结果相当，这表明p53而非p16可能在MFH-b的肿瘤发生过程中发挥作用。
