Kondo K, Chilcote R R, Maurer H S, Rowley J D
Cancer Res. 1984 Nov;44(11):5376-81.
The karyotype of nine of 11 Wilms' tumors was successfully analyzed using chromosome banding techniques. Peripheral lymphocytes had a normal karyotype in all six analyzed cases. Cultured cells from one tumor had a normal karyotype; however, they appeared to be fibroblasts. A chromosome 11 deletion, del(11)(p13p14), similar to that seen in patients with sporadic aniridia, was found as the sole abnormality in cells from one tumor. Abnormalities of chromosome 1 resulting in trisomy for the long arm (q21-q31) were found in five cases. Two of them had a translocation involving 1q and 16q, although the breakpoints in each chromosome appeared to differ in the two cases. Two patients had an isochromosome of the long arm, i(1q), and a fifth case had a duplication of the long arm as a result of karyotypic evolution. Chromosome 16 abnormalities were found in three cases, resulting in the partial monosomy of the long arm, sharing q22 as a common deletion. The same three cases also had trisomy 1q due to an unbalanced translocation of 1q or an i(1q). Trisomy for both chromosomes 9 and 12 were present in three cases. Two patients each had whole or partial trisomy of chromosomes 6, 7, 8, 17, and 18. Our data show that although an 11p deletion can occur as a mutation confined to tumor cells, the most common changes are trisomy for 1q, and less often a deletion of 16q.
运用染色体显带技术成功分析了11例肾母细胞瘤中9例的核型。在所有6例被分析的病例中，外周血淋巴细胞核型正常。来自一个肿瘤的培养细胞核型正常；然而，它们似乎是成纤维细胞。在一个肿瘤的细胞中发现了与散发性无虹膜患者所见相似的11号染色体缺失，即del(11)(p13p14)，这是唯一的异常。在5例中发现了导致1号染色体长臂三体（q21-q31）的异常。其中2例有涉及1号染色体长臂和16号染色体长臂的易位，尽管在这两例中每条染色体的断点似乎不同。2例患者有1号染色体长臂等臂染色体，i(1q)，第5例因核型进化出现1号染色体长臂重复。在3例中发现了16号染色体异常，导致长臂部分单体性，共同缺失q22。同样这3例由于1号染色体长臂不平衡易位或i(1q)也有1号染色体长臂三体。3例中出现了9号和12号染色体三体。2例患者分别有6号、7号、8号、17号和18号染色体的全部或部分三体。我们的数据表明，虽然11p缺失可作为局限于肿瘤细胞的突变发生，但最常见的变化是1号染色体长臂三体，较少见的是16号染色体长臂缺失。
