Radice P, Perotti D, De Benedetti V, Mondini P, Radice M T, Pilotti S, Luksch R, Fossati Bellani F, Pierotti M A
Division of Experimental Oncology A, Istituto Nazionale Tumori, Milan, Italy.
Genomics. 1995 Jun 10;27(3):497-501. doi: 10.1006/geno.1995.1082.
An analysis of loss of heterozygosity for markers on both the short and the long arm of chromosome 11 was performed in 24 sporadic Wilms tumors. Six cases (25%) showed allelic losses involving the entire chromosome. In one case (4%) the loss was restricted solely to the WT1 gene on band p13. Two cases (8%) displayed allelic losses for WT1 and for markers on band p15.5, where the putative tumor suppressor gene WT2 has been mapped, but retained heterozygosity for markers on the long arm. In three tumors (13%) the loss of heterozygosity involved markers mapped to chromosomal regions p15.5 and q23.3-qter, but did not affect WT1 and markers on q12-q13. Altogether, the proportion of cases showing allelic losses at the distal region of 11q (37%) was comparable to that of cases with LOH affecting the WT1 (37%) or the WT2 (46%) loci, thus suggesting the existence of a third chromosome 11 tumor suppressor gene involved in the pathogenesis of Wilms tumors.
对24例散发性肾母细胞瘤进行了11号染色体短臂和长臂上标记杂合性缺失的分析。6例(25%)显示等位基因缺失涉及整条染色体。1例(4%)缺失仅局限于p13带的WT1基因。2例(8%)显示WT1以及p15.5带标记的等位基因缺失,推测的肿瘤抑制基因WT2定位于此带,但长臂上的标记保持杂合性。3例肿瘤(13%)杂合性缺失涉及定位于染色体区域p15.5和q23.3 - qter的标记,但不影响WT1和q12 - q13上的标记。总之,11q远端区域显示等位基因缺失的病例比例(37%)与影响WT1(37%)或WT2(46%)位点的杂合性缺失病例比例相当,因此提示存在第三个11号染色体肿瘤抑制基因参与肾母细胞瘤的发病机制。