Comparison of different techniques for the detection of genetic risk-identifying chromosomal gains and losses in neuroblastoma
Comparison of different techniques for the detection of genetic risk-identifying chromosomal gains and losses in neuroblastoma
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神经母细胞瘤遗传风险识别染色体获得和缺失的不同检测技术的比较
DOI：
10.1007/s00428-008-0633-6
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发表时间：
2008
期刊：
影响因子：
3.5
通讯作者：
R. Noguera
中科院分区：
文献类型：
--
作者：
E. Villamón;M. Piqueras;Carlos Mackintosh;Javier Alonso;E. Álava;S. Navarro;R. Noguera
神经母细胞瘤是一种儿童肿瘤，表现为获得性遗传异常的复杂组合。神经母细胞瘤发生发展的具体基因和分子机制仍然知之甚少。我们的主要目的是比较用不同技术检测20例NB患者的基因组数据所获得的结果，利用所获得的信息在治疗分层的常规分析中选择合适的技术。本研究采用的遗传学方法有多探针荧光原位杂交(FISH)、变相比较基因组杂交(MCGH)、阵列比较基因组杂交(ACGH)和多重连接依赖的探针扩增(MLPA)。根据基因组拷贝数异常将病例分为4类：MYCN扩增例、11q缺失肿瘤、部分染色体获得或丢失病例和全部染色体改变标本。从多基因组技术获得的数据显示出高度的一致性，我们的发现支持这样的假设，即NB由生物学上不同的亚组组成，这些亚组在预后相关的遗传特征上不同。鱼类将是对MYCNs状况进行强制性研究的关键。使用MLPA作为常规技术是检测NB常见基因改变的一种优势方法。
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:MYCNamplification 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 ofMYCNstatus. The use of MLPA as routine technique is an advantage procedure for detecting the implication of the common genetic alterations in NB.