Haber D A, Housman D E
Center for Cancer Research, Massachusetts Institute of Technology, Cambridge 02139.
Cancer Surv. 1992;12:105-17.
Wilms' tumour is a paediatric kidney cancer which, in a substantial number of cases, has been associated with a genetic predisposition. Susceptibility to Wilms' tumour can be manifested by the presence of bilateral tumours, and in rare cases by a family history of this tumour or by associated congenital malformations. Like retinoblastoma, Wilms' tumour has been postulated to result from the inactivation of a tumour suppressor gene, although genetic studies implicate more than a single genetic locus. The recent isolation of the WT1 gene, which maps to chromosome 11, band p13, has provided the first molecular clue to Wilms' tumorigenesis. WT1 is specifically inactivated in a number of Wilms' tumours, and mutations have been found in the germline of susceptible individuals. This gene appears to encode a transcription factor with complex alternative splices, whose expression is strictly regulated in the developing kidney. Functional studies will be required to elucidate the role of WT1 in normal kidney development and in tumorigenesis.
肾母细胞瘤是一种儿科肾癌，在相当多的病例中与遗传易感性有关。双侧肿瘤的存在可表明对肾母细胞瘤的易感性，在罕见情况下，这种易感性可通过该肿瘤的家族病史或相关先天性畸形表现出来。与视网膜母细胞瘤一样，尽管基因研究表明涉及多个以上的基因位点，但肾母细胞瘤被推测是由肿瘤抑制基因失活所致。最近分离出的WT1基因定位于11号染色体p13带，这为肾母细胞瘤的发生提供了首个分子线索。WT1在一些肾母细胞瘤中特异性失活，并且在易感个体的种系中发现了突变。该基因似乎编码一种具有复杂可变剪接的转录因子，其表达在发育中的肾脏中受到严格调控。需要进行功能研究以阐明WT1在正常肾脏发育和肿瘤发生中的作用。
