A genome-wide assessment of variations of primary colorectal cancer maintained in metastases.
A genome-wide assessment of variations of primary colorectal cancer maintained in metastases.
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DOI：
10.1016/j.gene.2016.09.023
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发表时间：
2016-12
期刊：
影响因子：
3.5
通讯作者：
Zhai Cai;Shuai Han;Zhou Li;Lin-yun He;Jiajing Zhou;Wenhua Huang;Yichun Xu
中科院分区：
文献类型：
--
作者：
Zhai Cai;Shuai Han;Zhou Li;Lin-yun He;Jiajing Zhou;Wenhua Huang;Yichun Xu
结直肠癌（CRC）是一种高度异质性的疾病，是全球癌症相关死亡的第三大原因。这项研究提出了一个全基因组评估的变化，在原发性结直肠癌的转移，甚至在远处转移。本研究的目的是确定肿瘤内异质性是否与结直肠癌的疾病进展和转移有关。结果发现882个单核苷酸多态性（single nucleotide polymorphism，SNP）相关基因和473个拷贝数变异（copy number variant，CNV）相关基因，其中57个定位于miRNAs的SNP在原发灶和转移灶之间存在显著差异。转移特异性基因的功能注释表明，粘附和免疫调节可能在肿瘤的发展中是必不可少的。第14号染色体rs 12881063位点G/C型转移率高。近淋巴结转移的G/C型占66.7%，远淋巴结转移的G/C型占83.3%。这些结果提示rs 12881063可能是临床诊断结直肠癌转移的依据。
Colorectal cancer (CRC) is a highly heterogeneous disease that is the third leading cause of cancer-related deaths worldwide. This study presents a genome-wide assessment of variations in primary colorectal cancer maintained in metastases, even in distant metastases. The purpose of this study was to determine whether intratumor heterogeneity is related to disease progression and metastasis in CRC. The results showed that 882 single nucleotide polymorphism (SNP) associated genes and 473 copy number variant (CNV) associated genes specific to metastasis were found. In addition, 57 SNPs mapped to miRNAs showed significant differences between primary tumors and metastases. Functional annotation of metastasis-specific genes suggested that adhesion and immune regulation may be essential in the development of tumors. Moreover, the locus rs12881063 in the fourteenth chromosome was found to have a high rate of the G/C type in metastases. The rate of the G/C type in nearby lymph node metastases was 66.7%, while the rate of the G/C type in distance lymph node metastases was 83.3%. These results indicate that rs12881063 may be the basis for clinical diagnosis of CRC metastasis.