Speleman F, van den Berg E, Dhooge C, Oosterhuis W, Redeker B, De Potter C R, Tamminga R Y, Van Roy N, Mannens M
Department of Medical Genetics, University Hospital, Ghent, Belgium.
Genes Chromosomes Cancer. 1998 Mar;21(3):265-9. doi: 10.1002/(sici)1098-2264(199803)21:3<265::aid-gcc13>3.0.co;2-o.
Cytogenetic and molecular analyses were performed on three cellular (atypical) congenital mesoblastic nephromas (CMNs). Two cases had trisomy 11; in one, it was the sole karyotypic abnormality, and the other had additional numerical changes as well as an isochromosome for the long arm of chromosome 1. Markers for the 11p13 and 11p15 loci were present in three copies in these two CMNs. In the third CMN, two apparently normal copies of chromosome 11 were present together with additional numerical and structural chromosome changes. Because loss of heterozygosity was observed for both 11p13 and 11p15 markers, we assume that mitotic recombination occurred. Duplication and loss of imprinting of genes at 11p15 has also been observed frequently in Wilms' tumor. We therefore propose that CMN and Wilms' tumor might share common genetic pathways.
对三个细胞型（非典型）先天性中胚层肾瘤（CMN）进行了细胞遗传学和分子分析。两例存在11三体；其中一例，这是唯一的核型异常，另一例还存在其他数量变化以及1号染色体长臂的等臂染色体。在这两个CMN中，11p13和11p15位点的标记物有三个拷贝。在第三个CMN中，存在两条明显正常的11号染色体以及其他数量和结构染色体变化。因为观察到11p13和11p15标记物均出现杂合性缺失，我们推测发生了有丝分裂重组。11p15基因的重复和印记丢失在肾母细胞瘤中也经常被观察到。因此，我们提出CMN和肾母细胞瘤可能共享共同的遗传途径。
