Park S, Bernard A, Bove K E, Sens D A, Hazen-Martin D J, Garvin A J, Haber D A
Laboratory of Molecular Genetics, Massachusetts General Hospital Cancer Center, Charlestown.
Nat Genet. 1993 Dec;5(4):363-7. doi: 10.1038/ng1293-363.
Nephrogenic rests consist of foci of primitive renal cells, typically microscopic, that are found within the normal kidney tissue of children with Wilms' tumour. To study the relationship between nephrogenic rests and the associated tumours, we screened these lesions for mutations in the 11p13 Wilms' tumour suppressor gene, WT1. In two cases in which the Wilms' tumour contained a somatic WT1 mutation, the nephrogenic rest had the identical mutation. Nephrogenic rests and Wilms' tumours are therefore topographically distinct lesions that are clonally derived from an early renal stem cell. Inactivation of WT1 appears to be an early genetic event which can lead to the formation of nephrogenic rests, enhancing the probability that additional genetic hits will lead to Wilms' tumour.
肾源性残留由原始肾细胞灶组成，通常为显微镜下可见，在患有威尔姆斯瘤的儿童正常肾组织中发现。为了研究肾源性残留与相关肿瘤之间的关系，我们筛查了这些病变中11p13威尔姆斯瘤抑制基因WT1的突变情况。在两例威尔姆斯瘤含有体细胞WT1突变的病例中，肾源性残留具有相同的突变。因此，肾源性残留和威尔姆斯瘤是在地形上不同的病变，它们克隆起源于早期肾干细胞。WT1的失活似乎是一个早期遗传事件，可导致肾源性残留的形成，增加了其他遗传打击导致威尔姆斯瘤的可能性。
