Identification of a Characteristic Copy Number Alteration Profile by High-Resolution Single Nucleotide Polymorphism Arrays Associated With Metastatic Sporadic Colorectal Cancer
Identification of a Characteristic Copy Number Alteration Profile by High-Resolution Single Nucleotide Polymorphism Arrays Associated With Metastatic Sporadic Colorectal Cancer
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DOI：
10.1002/cncr.28681
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发表时间：
2014-07-01
期刊：
影响因子：
6.2
通讯作者：
Sayagues, Jose M.
中科院分区：
文献类型：
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作者：
Gonzalez-Gonzalez, Maria;Fontanillo, Celia;Sayagues, Jose M.
背景：转移性播散是散发性结直肠癌（sCRC）患者最常见的死亡原因。据信，转移过程至少部分与原发性肿瘤细胞中积累的遗传变异的特定背景相关，检测此类变异的能力对于识别有发生转移风险的sCRC患者至关重要。方法：采用正交设计法作者使用高分辨率的500-K单核苷酸多态性阵列来鉴定转移性（n = 23）与非转移性（n = 26）sCRC患者原发性肿瘤诊断时存在的拷贝数改变谱。研究结果：结果揭示了转移性sCRC肿瘤中拷贝数改变的特征模式，涉及染色体1 p、17 p和18 q的23个区域的丢失，以及染色体7和13 q的35个区域的增加。结论：与预期一致，研究的拷贝数谱涉及先前与sCRC（即SMAD 2）和/或转移过程（即足萼蛋白样[PODXL]）相关的多个基因，并且还与较差的结局相关。(C)2014年美国癌症协会
BACKGROUND: Metastatic dissemination is the most frequent cause of death in patients with sporadic colorectal cancer (sCRC). It is believed that the metastatic process is related at least in part to a specific background of genetic alterations accumulated in cells from primary tumors, and the ability to detect such alterations is critical for the identification of patients with sCRC who are at risk of developing metastases. METHODS: The authors used high-resolution, 500-K single nucleotide polymorphism arrays to identify copy number alteration profiles present at diagnosis in primary tumors from patients with metastatic (n = 23) versus nonmetastatic (n = 26) sCRC. RESULTS: The results revealed a characteristic pattern of copy number alterations in metastatic sCRC tumors that involved losses of 23 regions at chromosomes 1p, 17p, and 18q, together with gains of 35 regions at chromosomes 7 and 13q. CONCLUSIONS: In line with expectations, the copy number profile investigated involved multiple genes that were associated previously with sCRC (ie, SMAD2) and/or the metastatic process (ie, podocalyxin-like [PODXL]), and it also was associated with a poorer outcome. (C) 2014 American Cancer Society.