Roberts P, Lockwood L R, Lewis I J, Bailey C C, Batcup G, Williams J
Regional Cytogenetics Unit, St. James's University Hospital, Leeds, England.
Med Pediatr Oncol. 1993;21(6):416-20. doi: 10.1002/mpo.2950210605.
Cytogenetic analysis of tumour material from a congenital mesoblastic nephroma is reported. Two cell lines were found, one with a normal 46,XY karyotype and the other with a hyperdiploid 51,XY karyotype, including a rearrangement of chromosome 11 at 11p15. This finding is of interest since loss of allelic heterozygosity at polymorphic 11p15 loci has been described in sporadic Wilms' tumour [1], and both cytogenetic [2] and molecular [3] changes of 11p15 are found in the Wiedemann-Beckwith syndrome, a condition with a predisposition to embryonal tumours, particularly Wilms' tumour. Our results lead us to speculate on the implications relating to the pathogenesis of this relatively benign tumour variant with respect to the current understanding of the genetics of Wilms' tumour.
本文报道了对先天性中胚层肾瘤肿瘤组织的细胞遗传学分析。发现了两个细胞系,一个具有正常的46,XY核型,另一个具有超二倍体51,XY核型,包括11号染色体11p15处的重排。这一发现很有意思,因为在散发性肾母细胞瘤中已描述了11p15多态性位点的等位基因杂合性缺失[1],并且在威德曼-贝克威思综合征中发现了11p15的细胞遗传学[2]和分子[3]变化,该综合征易患胚胎性肿瘤,尤其是肾母细胞瘤。我们的结果促使我们根据目前对肾母细胞瘤遗传学的理解,推测这种相对良性肿瘤变体的发病机制。