el-Naggar A K, Hurr K, Tu Z N, Tucker S L, Swanson D, Hsu P H
Department of Pathology, M.D. Anderson Cancer Center, Houston, Texas, USA.
Am J Clin Pathol. 1995 Aug;104(2):141-9. doi: 10.1093/ajcp/104.2.141.
The genotypic changes in 22 renal cortical neoplasms and 16 of the corresponding normal kidney tissues by fluorescence in situ hybridization (FISH) were studied using directly labelled probes for chromosomes 7, 8, 10, 11, 12, 17, 18, X, and Y, and by flow cytometry (FCM). DNA ploidy analysis revealed 8 DNA aneuploid and 14 DNA diploid neoplasms. The mean single spot hybridization in normal kidney was 5 +/- 0.9% for chromosomes 7, 8, 10, 11, 12, and the X in females. The mean single spot hybridization for chromosomes 17 and 18 was 14.9% and 18.5%, respectively. The mean number of more than two (> 2) hybridization signals in normal kidney cells for all autosomes and the X-chromosome in females was 3 +/- 1.2%. Significant chromosomal loss was restricted to chromosomes 8, 18, X, and Y. The net chromosomal gain and loss correlated with the DIs in aneuploid tumors. All DNA diploid neoplasms showed both chromosomal loss and gain with a tendency to a net loss. No apparent correlation between the chromosomal aberrations and the clinicopathologic factors was found in this cohort. Our study demonstrates that: (1) tissue specific controls may provide better information for definable performance criteria for this technique; (2) monosomy can more reliably be assessed on fresh samples; (3) chromosomal loss is confined to certain chromosomes; (4) DNA diploid tumors manifest heterogeneous gain and loss of various chromosomes with a tendency to a net loss; and (5) integrated FISH and FCM analysis provide more information on the chromosomal abnormalities of these neoplasms.
使用针对染色体7、8、10、11、12、17、18、X和Y的直接标记探针,通过荧光原位杂交(FISH)和流式细胞术(FCM)研究了22例肾皮质肿瘤及16例相应正常肾组织中的基因型变化。DNA倍体分析显示有8例DNA非整倍体肿瘤和14例DNA二倍体肿瘤。正常肾组织中,女性染色体7、8、10、11、12和X的平均单点杂交率为5±0.9%。染色体17和18的平均单点杂交率分别为14.9%和18.5%。所有常染色体及女性X染色体在正常肾细胞中多于两个(>2)杂交信号的平均数量为3±1.2%。显著的染色体缺失仅限于染色体8、18、X和Y。非整倍体肿瘤中的净染色体增减与DNA指数(DI)相关。所有DNA二倍体肿瘤均显示染色体的增减,且有净损失的趋势。在该队列中未发现染色体畸变与临床病理因素之间存在明显相关性。我们的研究表明:(1)组织特异性对照可为该技术明确的性能标准提供更好的信息;(2)新鲜样本上能更可靠地评估单体性;(3)染色体缺失局限于某些染色体;(4)DNA二倍体肿瘤表现出各种染色体的异质性增减,且有净损失的趋势;(5)FISH和FCM综合分析可提供更多关于这些肿瘤染色体异常的信息。