Villamón Eva, Piqueras Marta, Mackintosh Carlos, Alonso Javier, de Alava Enrique, Navarro Samuel, Noguera Rosa
Department of Pathology, Medical School, University of Valencia, Avda/Blasco Ibáñez, 17, Valencia, Spain.
Virchows Arch. 2008 Jul;453(1):47-55. doi: 10.1007/s00428-008-0633-6. Epub 2008 Jun 24.
Neuroblastoma (NB) is a pediatric neoplasia that shows complex combinations of acquired genetic aberrations. The specific genes and the molecular mechanisms responsible for development and progression of NB remain poorly understood. Our main objective is to compare the results obtained with different techniques for the detection of genomic data in 20 patients with NB using the information obtained to select the appropriate technique in routine analysis for the therapeutic stratification. The genetic methods used in this study are multiprobe fluorescence in situ hybridization (FISH) assay, metaphasic comparative genomic hybridization (mCGH), array comparative genomic hybridization (aCGH), and the multiplex ligation-dependent probe amplification (MLPA). Genomic copy number abnormalities were used to group the cases in four categories: MYCN amplification cases; 11q deletion tumors; cases with partial chromosome gains or losses and samples with entire chromosome alterations. The data obtained from the multigenomic techniques showed a high degree of concordance and our findings support the hypothesis that NB consists of biologically distinct subgroups that differ by genetic characteristics of prognostic relevance. FISH will be essential for the mandatory study of MYCN status. The use of MLPA as routine technique is an advantage procedure for detecting the implication of the common genetic alterations in NB.
神经母细胞瘤（NB）是一种儿科肿瘤，表现出获得性基因畸变的复杂组合。导致NB发生和进展的具体基因及分子机制仍知之甚少。我们的主要目标是比较20例NB患者使用不同技术检测基因组数据所获得的结果，并利用所获信息选择常规分析中适用于治疗分层的合适技术。本研究中使用的基因方法有多探针荧光原位杂交（FISH）检测、中期比较基因组杂交（mCGH）、阵列比较基因组杂交（aCGH）以及多重连接依赖探针扩增（MLPA）。基因组拷贝数异常被用于将病例分为四类：MYCN扩增病例；11q缺失肿瘤；部分染色体获得或缺失的病例以及整条染色体改变的样本。从多基因组技术获得的数据显示出高度的一致性，我们的研究结果支持这样一种假设，即NB由生物学上不同的亚组组成，这些亚组在具有预后相关性的遗传特征方面存在差异。FISH对于MYCN状态的强制性研究至关重要。将MLPA用作常规技术是检测NB中常见基因改变影响的一种优势方法。
