ABSENCE OF P53 MUTATIONS IN CHILDHOOD CENTRAL-NERVOUS-SYSTEM PRIMITIVE NEUROECTODERMAL TUMORS
ABSENCE OF P53 MUTATIONS IN CHILDHOOD CENTRAL-NERVOUS-SYSTEM PRIMITIVE NEUROECTODERMAL TUMORS
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DOI：
10.1227/00006123-199308000-00018
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发表时间：
1993-08-01
期刊：
影响因子：
4.8
通讯作者：
RUTKA, JT
中科院分区：
文献类型：
--
作者：
RAFFEL, C;THOMAS, GA;RUTKA, JT
中枢神经系统的原始神经外胚层肿瘤是已发现 17p 号染色体缺失的众多肿瘤之一。肿瘤抑制基因 p53 位于缺失区域。为了确定 p53 基因是否参与原始神经外胚层肿瘤的发展，对 34 个从儿童身上摘除的原始神经外胚层肿瘤进行了脱氧核糖核酸 (DNA) 印迹分析、核糖核酸印迹分析和 p53 互补 DNA 测序。在 21 个肿瘤中未检测到该基因重排。在所有 18 个可获得核糖核酸的肿瘤中，p53 信使核糖核酸的大小均符合预期。 p53 外显子 5 至 9 的测序显示细胞系 DAOY 中存在突变，并且仅在所检查的 14 个肿瘤中的 1 个中存在突变。使用映射到 17p 远端部分的探针在一个肿瘤的 DNA 中检测到 DNA 重排。总而言之，这些数据表明 p53 基因不参与大多数原始神经外胚层肿瘤的发展。此外，感兴趣的基因可能存在于远端 17p。
THE PRIMITIVE NEUROECTODERMAL tumor of the central nervous system is one of a number of tumors in which deletions on chromosome 17p have been identified. The tumor suppressor gene, p53, is located in the region of the deletion. To determine if the p53 gene is involved in the development of primitive neuroectodermal tumors, deoxyribonucleic acid (DNA) blot analysis, ribonucleic acid blot analysis, and p53 complementary DNA sequencing were performed on 34 primitive neuroectodermal tumors removed from children. No rearrangement in the gene was detected in 21 tumors. The p53 messenger ribonucleic acid was of the expected size in all 18 tumors for which ribonucleic acid was available. Sequencing of p53 Exons 5 through 9 revealed a mutation in the cell line DAOY and in only 1 of 14 tumors examined. A DNA rearrangement was detected in the DNA from one tumor with a probe mapping to the distal portion of 17p. Taken together, these data suggest that the p53 gene is not involved in the development of most primitive neuroectodermal tumors. In addition, a gene of interest may be present on distal 17p.