Detection of MYCN gene amplification in neuroblastoma by fluorescence in situ hybridization:: A pediatric oncology group study
Detection of MYCN gene amplification in neuroblastoma by fluorescence in situ hybridization:: A pediatric oncology group study
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DOI：
10.1038/sj.neo.7900146
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发表时间：
2001-03-01
期刊：
影响因子：
4.8
通讯作者：
Look, AT
中科院分区：
文献类型：
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作者：
Mathew, P;Valentine, MB;Look, AT
为了评估荧光原位杂交（FISH）在神经母细胞瘤中MYCN基因扩增分析中的效用，我们将该方法与Southern blot分析进行了比较，使用了来自232例具有该疾病典型特征的患者的肿瘤标本。FISH技术鉴定出47例MYCN扩增，而Southern印迹法鉴定出39例，从而使阳性病例总数增加21%。不一致的主要原因是临床标本中肿瘤细胞的比例低（小于或等于30%的替代），这阻碍了通过Southern印迹法准确估计MYCN拷贝数。相比之下，使用FISH可以分析肿瘤细胞的多个间期细胞核，而不考虑临床样本中正常外周血、骨髓或基质细胞的比例。因此，FISH可以准确地使用针头活检的触摸准备中非常少量的肿瘤细胞进行。此外，该程序使我们能够识别神经母细胞瘤特征的MYCN扩增的异质性模式。我们得出结论，FISH在临床环境中提高了儿童神经母细胞瘤中MYCN基因扩增的检测，从而促进了基于这种预后重要生物标志物存在与否的治疗决策。
To assess the utility of fluorescence in situ hybridization (FISH) for analysis of MYCN gene amplification in neuroblastoma, we compared this assay with Southern blot analysis using tumor specimens collected from 232 patients with presenting characteristics typical of this disease. The FISH technique identified MYCN amplification in 47 cases, compared with 39 by Southern blotting, thus increasing the total number of positive cases by 21%. The major cause of discordancy was a low fraction of tumor cells (less than or equal to 30% replacement) in clinical specimens, which prevented an accurate estimate of MYCN copy number by Southern blotting. With FISH, by contrast, it was possible to analyze multiple interphase nuclei of tumor cells, regardless of the proportion of normal peripheral blood, bone marrow, or stromal cells in clinical samples. Thus, FISH could be performed accurately with very small numbers of tumor cells from touch preparations of needle biopsies, Moreover, this procedure allowed us to discern the heterogeneous pattern of MYCN amplification that is characteristic of neuroblastoma. We conclude that FISH improves the detection of MYCN gene amplification in childhood neuroblastomas in a clinical setting, thus facilitating therapeutic decisions based on the presence or absence of this prognostically important biologic marker.