Detection of N-myc gene amplification by fluorescence in situ hybridization. Diagnostic utility for neuroblastoma.
Detection of N-myc gene amplification by fluorescence in situ hybridization. Diagnostic utility for neuroblastoma.
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发表时间：
1993-05
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通讯作者：
D. Shapiro;tt Marcus B. Valentine;S. Rowe;A. E. Sinclair;J. Sublett;W. Roberts;A. Look
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作者：
D. Shapiro;tt Marcus B. Valentine;S. Rowe;A. E. Sinclair;J. Sublett;W. Roberts;A. Look
我们评估了荧光原位杂交（FISH）作为替代Southern印迹分析确定N-myc基因扩增在神经母细胞瘤。在检查的44个儿童实体瘤细胞系（20个神经母细胞瘤）中，通过FISH测定的N-myc拷贝的平均数与Southern印迹结果密切相关。在有扩增证据的肿瘤中，基因拷贝数存在广泛的细胞间变异性;然而，被判定为非扩增的肿瘤完全缺乏任何具有高N-myc拷贝数的细胞。FISH提供了可靠的估计N-myc扩增在12个临床样本，即使肿瘤的百分比是低的。与Southern印迹分析相比，FISH的其他优点是速度快，技术简单，能够辨别同一标本中肿瘤细胞之间的异质性基因扩增，并能够确定扩增的N-myc信号的来源，无论是染色体外双微染色体，扩大的染色体内区域，还是2号染色体非整倍体。我们的结论是，FISH将细化神经母细胞瘤中N-myc扩增的分析，从而改善患者的预后组的分配基于这个不利的风险因素。
We assessed fluorescence in situ hybridization (FISH) as an alternative to Southern blot analysis for determination of N-myc gene amplification in neuroblastoma. In the 44 pediatric solid tumor cell lines examined (20 neuroblastomas), the mean number of N-myc copies determined by FISH correlated closely with Southern blot results. There was wide intercellular variability in gene copy number in tumors that had evidence of amplification; however, tumors judged to be non-amplified completely lacked any cells with high N-myc copy number. FISH provided reliable estimates of N-myc amplification in 12 clinical samples even when the percentage of tumor was low. The other advantages of FISH over Southern blot analysis were speed and technical simplicity, ability to discern heterogeneous gene amplification among tumor cells in the same specimen, and capacity to determine the source of the amplified N-myc signal, whether extrachromosomal double-minute chromosomes, expanded intrachromosomal regions, or chromosome 2 aneuploidy. We conclude that FISH would refine the analysis of N-myc amplification in neuroblastoma and thus improve the assignment of patients to prognostic groups based on this unfavorable risk factor.