Montesinos-Rongen M, Roers A, Küppers R, Rajewsky K, Hansmann M L
Institute for Genetics, University of Cologne, Cologne, Germany.
Blood. 1999 Sep 1;94(5):1755-60.
Point mutations of the p53 tumor suppressor gene are a frequent finding in human carcinomas and are thought to be an important oncogenic event. In non-Hodgkin lymphomas, p53 mutations occur in a minor fraction of cases. However, conclusive data are still lacking for Hodgkin's disease (HD) where the analysis meets technical problems. The neoplastic tumor cell clone in HD is represented by the large Hodgkin and Reed-Sternberg (HRS) cells, which account for only a minority of all cells in the tumor tissue (often <1%). To identify putative HRS cell-specific mutations, single HRS cells were micromanipulated from frozen tissue sections of HD biopsy specimens. Exons 4 to 8 of the p53 gene (in which more than 90% of p53 mutations associated with human neoplasms occur) were amplified from these single cells and sequenced. Mutations of p53 were not found in HRS cells of any of 8 cases of HD analyzed. We conclude that mutation of the p53 gene is only rarely, if at all, involved in the pathogenesis of HD.
p53肿瘤抑制基因的点突变在人类癌症中很常见，被认为是一个重要的致癌事件。在非霍奇金淋巴瘤中，p53突变仅在少数病例中出现。然而，由于分析存在技术问题，霍奇金病（HD）仍缺乏确凿的数据。HD中的肿瘤细胞克隆由大的霍奇金和里德-斯腾伯格（HRS）细胞代表，这些细胞在肿瘤组织中仅占所有细胞的少数（通常<1%）。为了鉴定假定的HRS细胞特异性突变，从HD活检标本的冷冻组织切片中显微操作单个HRS细胞。从这些单个细胞中扩增并测序p53基因的第4至8外显子（超过90%的与人类肿瘤相关的p53突变发生在此处）。在分析的8例HD病例的HRS细胞中均未发现p53突变。我们得出结论，p53基因的突变在HD的发病机制中即使有参与也非常罕见。
