Bardeesy N, Falkoff D, Petruzzi M J, Nowak N, Zabel B, Adam M, Aguiar M C, Grundy P, Shows T, Pelletier J
Department of Biochemistry, McGill University, Montreal, Canada.
Nat Genet. 1994 May;7(1):91-7. doi: 10.1038/ng0594-91.
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 approximately 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.
肾母细胞瘤（WT）是一种小儿肾脏恶性肿瘤，其遗传学较为复杂。肿瘤抑制基因WT1的失活与大约10%-15%的肾母细胞瘤的病因有关。在肾母细胞瘤的细胞遗传学研究中已注意到17号染色体短臂的变化，这促使我们对140例肾母细胞瘤进行p53突变筛查。当有组织病理学报告时，11例间变性肾母细胞瘤中有8例存在p53突变，间变性肾母细胞瘤是一种预后较差的肿瘤亚型。排除了MDM2基因的扩增，MDM2基因的产物可结合并隔离p53。我们的结果表明，p53改变为间变性肾母细胞瘤提供了一个分子标志物。
