Scott J, Cowell J, Robertson M E, Priestley L M, Wadey R, Hopkins B, Pritchard J, Bell G I, Rall L B, Graham C F
Nature. 1985;317(6034):260-2. doi: 10.1038/317260a0.
Wilms' tumour (nephroblastoma) is an embryonal neoplasm occurring in hereditary and spontaneous forms. Both types show rearrangements of the short arm of chromosome 11. The germ line of children with the rare inherited triad of aniridia, genito-urinary abnormality and mental retardation carry a chromosome 11 that has a deletion in its short arm (band 11p13) and these children are at increased risk of developing Wilms' tumour. Neonates with the Beckwith-Wiedemann syndrome, in which there may be duplication of the 11p13-11p15 region, are similarly predisposed. In the spontaneous form of the tumour a deletion of the 11p14 band in tumour cells, but not in normal cells, has been reported, and the development of homozygosity for recessive mutations in the 11p region is implicated in the aetiology of Wilms' tumour. In view of these chromosomal rearrangements and because Wilms' tumour is histologically indistinguishable from the early stages of kidney development, we have now examined the expression of genes localized to 11p in Wilms' tumour and human embryonic tissue. In 12 sporadic tumours examined, the expression of the gene coding for insulin-like growth factor-II (IGF-II), localized to the 11p15 region, was markedly increased relative to adult tissues, but was comparable to the level of expression in several fetal tissues including kidney, liver, adrenals and striated muscle. This may reflect the stage of tumour differentiation, but could also contribute to the malignant process, as IGF-II is an embryonal mitogen.
肾母细胞瘤是一种以遗传和自发形式出现的胚胎性肿瘤。两种类型均显示11号染色体短臂重排。患有罕见的无虹膜、泌尿生殖系统异常和智力发育迟缓三联征的儿童的生殖系携带一条11号染色体,其短臂(11p13带)有缺失,这些儿童患肾母细胞瘤的风险增加。患有贝克威思-维德曼综合征的新生儿同样易感,该综合征可能存在11p13 - 11p15区域的重复。在肿瘤的自发形式中,已报道肿瘤细胞而非正常细胞中11p14带缺失,并且11p区域隐性突变的纯合性发展与肾母细胞瘤的病因学有关。鉴于这些染色体重排,并且由于肾母细胞瘤在组织学上与肾脏发育的早期阶段无法区分,我们现在研究了定位于11p的基因在肾母细胞瘤和人类胚胎组织中的表达。在检测的12例散发性肿瘤中,定位于11p15区域的胰岛素样生长因子-II(IGF-II)编码基因的表达相对于成人组织明显增加,但与包括肾脏、肝脏、肾上腺和横纹肌在内的几种胎儿组织中的表达水平相当。这可能反映了肿瘤分化阶段,但也可能促成恶性过程,因为IGF-II是一种胚胎有丝分裂原。