Höglund Mattias, Gisselsson David, Hansen Gunnar B, Mitelman Felix
Department of Clinical Genetics, Lund University Hospital, SE-221 85 Lund, Sweden.
Cancer Genet Cytogenet. 2004 Apr 1;150(1):9-15. doi: 10.1016/j.cancergencyto.2003.08.017.
Wilms tumor is an embryonic neoplasm characterized by a large variation in histologic patterns. Cytogenetic investigations have identified nonrandom chromosomal changes characteristic for this tumor type, of which numerical changes, mostly trisomies for chromosomes 7, 8, and 12, are particularly frequent. Despite the abundance of cytogenetic information, with more than 350 published karyotypes, very little is known about the mode of karyotypic evolution. In this investigation, we have used 355 karyotypes of Wilms tumor to identify frequent imbalances. The most frequent were +1q, +6, +7q, +8, +12, +13, -11, and -16. Tumor cases were then classified with respect to the presence or absence of these imbalances and statistically analyzed to assess the order of appearance of chromosomal imbalances, as well as possible karyotypic pathways. We show that Wilms tumors develop through one major mode of karyotypic evolution, common to both low- and high-complex tumors, and that polyploid cases are relatively rare. We also establish a temporal order by which the different imbalances occur and show that at least two cytogenetic pathways exist, one dominated by gains and another by losses. We also show that these pathways are well separated and do not share a common set of late imbalances.
肾母细胞瘤是一种胚胎性肿瘤，其组织学模式变化很大。细胞遗传学研究已确定了这种肿瘤类型特有的非随机染色体变化，其中数量变化，主要是7号、8号和12号染色体三体，尤为常见。尽管有丰富的细胞遗传学信息，已发表了350多个核型，但对核型进化模式却知之甚少。在这项研究中，我们使用了355个肾母细胞瘤核型来确定常见的失衡情况。最常见的是+1q、+6、+7q、+8、+12、+13、-11和-16。然后根据这些失衡情况的有无对肿瘤病例进行分类，并进行统计分析，以评估染色体失衡出现的顺序以及可能的核型途径。我们表明，肾母细胞瘤通过一种主要的核型进化模式发展，这种模式在低复杂性和高复杂性肿瘤中都很常见，而且多倍体病例相对较少。我们还确定了不同失衡发生的时间顺序，并表明至少存在两条细胞遗传学途径，一条以增加为主，另一条以缺失为主。我们还表明，这些途径是完全分开的，不存在一组共同的晚期失衡情况。
