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首页> 外文期刊>BMC Medical Genomics >Differential expression of genes mapping to recurrently abnormal chromosomal regions characterize neuroblastic tumours with distinct ploidy status
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Differential expression of genes mapping to recurrently abnormal chromosomal regions characterize neuroblastic tumours with distinct ploidy status

机译：映射到反复异常染色体区域的基因的差异表达表征具有明显倍性状态的成神经细胞肿瘤

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Background Neuroblastic tumours (NBTs) represent a heterogeneous spectrum of neoplastic diseases associated with multiple genetic alterations. Structural and numerical chromosomal changes are frequent and are predictive parameters of NBTs outcome. We performed a comparative analysis of the biological entities constituted by NBTs with different ploidy status. Methods Gene expression profiling of 49 diagnostic primary NBTs with ploidy data was performed using oligonucleotide microarray. Further analyses using Quantitative Real-Time Polymerase Chain Reaction (Q-PCR); array-Comparative Genomic Hybridization (aCGH); and Fluorescent in situ Hybridization (FISH) were performed to investigate the correlation between aneuploidy, chromosomal changes and gene expression profiles. Results Gene expression profiling of 49 primary near-triploid and near-diploid/tetraploid NBTs revealed distinct expression profiles associated with each NBT subgroup. A statistically significant portion of genes mapped to 1p36 ( P = 0.01) and 17p13-q21 ( P Conclusion NBTs with different cellular DNA content display distinct transcriptional profiles with a significant portion of differentially expressed genes mapping to specific chromosomal regions known to be associated with outcome. Furthermore, our results demonstrate that these specific genetic abnormalities are highly heterogeneous in all NBTs, and suggest that NBTs with different ploidy status may result from different mechanisms of aneuploidy driving tumourigenesis.
机译：背景成神经细胞瘤（NBTs）代表了与多种遗传改变相关的异质性肿瘤疾病。染色体的结构和数值变化很频繁，是NBT结果的预测参数。我们对具有不同倍性状态的NBT构成的生物实体进行了比较分析。方法使用寡核苷酸芯片对49份具有原倍体数据的诊断性NBT进行基因表达谱分析。使用定量实时聚合酶链反应（Q-PCR）进行进一步分析;阵列比较基因组杂交（aCGH）;进行了荧光原位杂交（FISH）研究，以研究非整倍性，染色体变化与基因表达谱之间的相关性。结果49种主要的近三倍体和近二倍体/四倍体NBT的基因表达谱揭示了与每个NBT亚组相关的不同表达谱。统计学上显着部分的基因定位到1p36（P = 0.01）和17p13-q21（P结论不同细胞DNA含量的NBT表现出不同的转录谱，其中大部分差异表达基因映射到已知与结果相关的特定染色体区域此外，我们的研究结果表明，这些特异性遗传异常在所有NBT中都是高度异质的，并且表明具有不同倍性状态的NBT可能是由非整倍性驱动肿瘤发生的不同机制导致的。

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