González-González María, Fontanillo Celia, Abad María M, Gutiérrez María L, Mota Ines, Bengoechea Oscar, Santos-Briz Ángel, Blanco Oscar, Fonseca Emilio, Ciudad Juana, Fuentes Manuel, De Las Rivas Javier, Alcazar José A, García Jacinto, Muñoz-Bellvis Luís, Orfao Alberto, Sayagués José M
General Cytometry Service-Nucleus, Department of Medicine and Cancer Research Center, Institute of Molecular Biology and Cellular Oncology of the University of Salamanca and Salamanca Institute of Biomedical Research, University of Salamanca, Salamanca, Spain.
Cancer. 2014 Jul 1;120(13):1948-59. doi: 10.1002/cncr.28681. Epub 2014 Mar 25.
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.
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.
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.
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.
转移扩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肿瘤细胞中积累的特定基因改变背景有关，而检测此类改变的能力对于识别有发生转移风险的sCRC患者至关重要。
作者使用高分辨率的500K单核苷酸多态性阵列，以识别转移性（n = 23）与非转移性（n = 26）sCRC患者原发肿瘤诊断时存在的拷贝数改变图谱。
结果显示转移性sCRC肿瘤中存在一种特征性的拷贝数改变模式，涉及1号染色体短臂、17号染色体短臂和18号染色体长臂上23个区域的缺失，以及7号和13号染色体长臂上35个区域的增加。
与预期一致，所研究的拷贝数图谱涉及多个先前与sCRC（即SMAD2）和/或转移过程（即足突蛋白样蛋白[PODXL]）相关的基因，并且还与较差的预后相关。
