Wolman S R, Camuto P M, Eisenberg A J, Feiner H D, Greco M A
Michigan Cancer Foundation, Detroit 48201.
Hum Pathol. 1990 Jul;21(7):715-21. doi: 10.1016/0046-8177(90)90031-y.
A Wilms' tumor from a 12-month-old boy showed epithelial and mainly rhabdomyoblastic differentiation. In addition, the kidney contained foci of nephroblastomatosis, a lesion predisposing to the development of nephric tumors. Flow cytometry indicated that the tumor DNA content was in the diploid range with an increased S-phase. Chromosome studies of the cultured tumor cells showed a dominant pattern of 49,XY, +8,9qh+, +12, +12,18q+, without obvious deletion of 11p. A few cells showed additional losses, deletions, or structural rearrangements superimposed on the basic pattern, but no normal metaphases were observed. The DNA from the tumor was probed for several loci on 11p because variations of 11p (deletion or translocation) have been reported in roughly one third of Wilms' tumors, and the critical gene in Wilms' has been localized to 11p13. In this case, 11p genes maintained heterozygosity or showed no detectable alteration in gene dosage when compared with peripheral-blood DNA. Therefore, despite histologic indication of an underlying constitutional defect, no genomic lesion of 11p was identified.
一名12个月大男孩的肾母细胞瘤表现出上皮分化，主要为横纹肌母细胞分化。此外，肾脏含有肾母细胞瘤病病灶，这是一种易引发肾肿瘤的病变。流式细胞术显示肿瘤DNA含量处于二倍体范围，S期增加。对培养的肿瘤细胞进行染色体研究显示，主要模式为49,XY, +8,9qh+, +12, +12,18q+，11p无明显缺失。少数细胞在基本模式上出现额外的缺失、缺失或结构重排，但未观察到正常中期。对肿瘤DNA进行11p上几个位点的检测，因为在大约三分之一的肾母细胞瘤中报告了11p的变异（缺失或易位），且肾母细胞瘤的关键基因已定位到11p13。在这种情况下，与外周血DNA相比，11p基因保持杂合性或未显示出可检测到的基因剂量改变。因此，尽管组织学显示存在潜在的体质性缺陷，但未发现11p的基因组病变。
