King-Underwood L, Renshaw J, Pritchard-Jones K
Institute of Cancer Research, Sutton, Surrey, UK.
Blood. 1996 Mar 15;87(6):2171-9.
The tissue-specific Wilms' tumor gene WT1 is expressed in a range of acute leukemias and hematopoietic cell lines. Using single-strand conformational polymorphism analysis, we have found mutations in the WT1 gene in 4 of 36 acute leukemias. WT1 mutations are found in 15% of cases of acute myeloid leukemia, in which they are associated with a poor response to chemotherapy. The mutations comprise small insertions in exons 1 and 7 and a nonsense mutation in exon 9. All are predicted to produce a truncated WT1 protein with absence or disruption of the zinc finger region. These are the first mutations in the WT1 gene to be described in sporadic leukemia.
组织特异性的威尔姆斯瘤基因WT1在多种急性白血病和造血细胞系中表达。通过单链构象多态性分析，我们在36例急性白血病中的4例发现了WT1基因的突变。WT1突变见于15%的急性髓系白血病病例，这些病例对化疗反应不佳。这些突变包括外显子1和7的小插入以及外显子9的无义突变。预计所有这些突变都会产生截断的WT1蛋白，其锌指区域缺失或破坏。这些是散发性白血病中首次描述的WT1基因突变。
