Kaneko Y, Egues M C, Rowley J D
Cancer Res. 1981 Nov;41(11 Pt 1):4577-8.
An interstitial deletion of the short arm of a chromosome 11 was found in Wilms' tumor cells of a patient without aniridia. The chromosomes in her peripheral blood lymphocytes were normal. The karyotype of the tumor cells is similar to that reported for the somatic cells of patients with aniridia-Wilms' tumor association. We showed that the same cytogenetic change as that seen in patients with this condition, namely, an interstitial deletion of 11p13, can occur in patients without aniridia as a mutation that is confined to tumor cells.
在一名无虹膜的肾母细胞瘤患者的肿瘤细胞中发现了11号染色体短臂的间质缺失。她外周血淋巴细胞中的染色体是正常的。肿瘤细胞的核型与无虹膜-肾母细胞瘤综合征患者体细胞所报道的核型相似。我们发现,在无虹膜的患者中,作为一种局限于肿瘤细胞的突变,可出现与该病患者相同的细胞遗传学改变,即11p13间质缺失。