Analysis of genomic aberrations associated with the clinicopathological parameters of rectal cancer by array-based comparative genomic hybridization
Analysis of genomic aberrations associated with the clinicopathological parameters of rectal cancer by array-based comparative genomic hybridization
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DOI：
10.3892/or.2013.2296
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发表时间：
2013-05-01
期刊：
影响因子：
4.2
通讯作者：
Zhang, Yu
中科院分区：
文献类型：
--
作者：
Liang, Jian-Wei;Shi, Zhi-Zhou;Zhang, Yu
本研究的目的是利用基于阵列的比较基因组杂交（array-CGH）筛选和鉴定与直肠癌临床病理特征相关的染色体畸变。对 48 份新鲜冷冻直肠癌肿瘤组织进行阵列 CGH 分析。结果显示，最常见的增益包括 8q24.3、20q11.21-q13.32、20q13.33，并且注意到 8p23.3-p12、17p13.1-p12 和 18q11.2-q23 的损失。在直肠癌样本中发现了 14 个扩增和 7 个纯合缺失。 4p16.1-p15.31、8p21.1-p12 的缺失以及 7p12.3-p12.1 和 13q33.1-q34 的增加与阳性淋巴结状态和晚期临床分期（III 期和 IV 期）相关。 17q24.2-25.3 增益在有远处转移的患者中更为常见。整合分析表明，PDP1、TRIB1、C13orf27、FOXA2、PMEPA1 和 PHACTR3 的过表达与增益相关，FHOD、SMAD4 和 BCL2 的表达不足与损失相关。通路富集分析表明，氮代谢、氧化磷酸化、细胞周期、青少年发病的成年糖尿病、细胞因子-细胞因子受体相互作用、MAPK信号通路和齿状-红苍白球体萎缩等通路受到拷贝数变化的影响。
The aim of the present study was to screen and identify the chromosomal aberrations that are correlated with clinicopathological characteristics of rectal cancer using array-based comparative genomic hybridization (array-CGH). Forty-eight fresh frozen tumor tissues of rectal carcinoma were analyzed by array-CGH. The results showed that most frequent gains included 8q24.3, 20q11.21-q13.32, 20q13.33 and losses in 8p23.3-p12, 17p13.1-p12 and 18q11.2-q23 were noted. Fourteen amplifications and seven homozygous deletions were identified in the rectal cancer samples. Losses of 4p16.1-p15.31, 8p21.1-p12 and gains of 7p12.3-p12.1 and 13q33.1-q34 were associated with positive lymph node status and advanced clinical stage (stages III and IV). The 17q24.2-25.3 gain was more frequent in patients with distant metastasis. Integrated analysis indicated that overexpression of PDP1, TRIB1, C13orf27, FOXA2, PMEPA1 and PHACTR3 was associated with gains, and underexpression of FHOD, SMAD4 and BCL2 was associated with losses. Pathway enrichment analysis showed that pathways of nitrogen metabolism, oxidative phosphorylation, cell cycle, maturity onset diabetes of young, cytokine-cytokine receptor interaction, MAPK signaling pathway and dentato-rubropallidoluysian atrophy were influenced by copy number changes.