ANAPLASTIC WILMS-TUMOR, A SUBTYPE DISPLAYING POOR-PROGNOSIS, HARBORS P53 GENE-MUTATIONS
ANAPLASTIC WILMS-TUMOR, A SUBTYPE DISPLAYING POOR-PROGNOSIS, HARBORS P53 GENE-MUTATIONS
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DOI：
10.1038/ng0594-91
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发表时间：
1994-05-01
期刊：
影响因子：
30.8
通讯作者：
PELLETIER, J
中科院分区：
文献类型：
--
作者：
BARDEESY, N;FALKOFF, D;PELLETIER, J
肾母细胞瘤（WT）是一种儿科肾脏恶性肿瘤，其遗传学非常复杂。肿瘤抑制基因WT 1的失活与10-15%的WT的肿瘤病因学相关。染色体17 p的变化已经注意到在WT的细胞遗传学研究，促使我们筛选140 WT的p53突变。当组织病理学报告可用时，p53突变存在于11个间变性WT中的8个中，这是一种与预后不良相关的肿瘤亚型。排除MDM 2的扩增，MDM 2是一种其产物结合并螯合p53的基因。我们的研究结果表明，p53的改变提供了一个分子标记间变性WT。
The genetics of Wilms' tumour (WT), a paediatric malignancy of the kidney, is complex. Inactivation of the tumour suppressor gene, WT1, is associated with tumour aetiology in similar to 10-15% of WTs. Chromosome 17p changes have been noted in cytogenetic studies of WTs, prompting us to screen 140 WTs for p53 mutations. When histopathology reports were available, p53 mutations were present in eight of eleven anaplastic WTs, a tumour subtype associated with poor prognosis. Amplification of MDM2, a gene whose product binds and sequesters p53, was excluded. Our results indicate that p53 alterations provide a molecular marker for anaplastic WTs.