机构：[1]Faculty of Environmental Science and Engineering, Kunming University of Science and Technology,Kunming, Yunnan, P.R. China[2]Faculty of medical, Kunming University of Science and Technology,Kunming, Yunnan, P.R. China[3]Department of Pharmacy, The First People's Hospital of Yunnan Province,Kunming, Yunnan, P.R. China云南省第一人民医院[4]Yunnan Institute of Digestive Disease, The First Affiliated Hospital of Kunming Medical University, Kunming, Yunnan, P.R. China昆明医科大学附属第一医院省级研究所云南省消化疾病研究所[5]Department of Gastrointestinal and Herniasurgery, The First Affiliated Hospital of Kunming Medical University, Kunming, Yunnan, P.R. China昆明医科大学附属第一医院[6]Jie-Shou Li Academician Workstation, Kunming, Yunnan, P.R. China[7]Department of Pathology, First People's Hospital of Yunnan Province, Kunming, Yunnan, P.R. China云南省第一人民医院
Intratumor heterogeneity (ITH) leads to an underestimation of the mutational landscape portrayed by a single needle biopsy and consequently affects treatment precision. The extent of colorectal cancer (CRC) genetic ITH is not well understood in Chinese patients. Thus, we conducted deep sequencing by using the OncoGxOne (TM) Plus panel, targeting 333 cancer-specific genes in multi-region biopsies of primary and liver metastatic tumors from three Chinese CRC patients. We determined that the extent of ITH varied among the three cases. On average, 65% of all the mutations detected were common within individual tumors. KMT2C aberrations and the NCOR1 mutation were the only ubiquitous events. Subsequent phylo-genetic analysis showed that the tumors evolved in a branched manner. Comparison of the primary and metastatic tumors revealed that PPP2R1A (E370X), SETD2 (I1608V), SMAD4 (G382T), and AR splicing site mutations may be specific to liver metastatic cancer. These mutations might contribute to the initiation and progression of distant metastasis. Collectively, our analysis identified a substantial level of genetic ITH in CRC, which should be considered for personalized therapeutic strategies.
基金：
Foundation of Medical Leading Talent of Yunnan Province [L-201205]; Foundation of Yunnan Institute of Digestive Disease [2014NS122]; Department of Science and Technology of Yunnan Province-Kunming Medical University [2015FB100]; National Natural Science Foundation of ChinaNational Natural Science Foundation of China [81460007]
第一作者机构：[1]Faculty of Environmental Science and Engineering, Kunming University of Science and Technology,Kunming, Yunnan, P.R. China[2]Faculty of medical, Kunming University of Science and Technology,Kunming, Yunnan, P.R. China
共同第一作者：
通讯作者：
推荐引用方式(GB/T 7714)：
Lu You-Wang,Zhang Hui-Feng,Liang Rui,et al.Colorectal Cancer Genetic Heterogeneity Delineated by Multi-Region Sequencing[J].PLOS ONE.2016,11(3):doi:10.1371/journal.pone.0152673.
APA：
Lu, You-Wang,Zhang, Hui-Feng,Liang, Rui,Xie, Zhen-Rong,Luo, Hua-You...&Wang, Kun-Hua.(2016).Colorectal Cancer Genetic Heterogeneity Delineated by Multi-Region Sequencing.PLOS ONE,11,(3)
MLA：
Lu, You-Wang,et al."Colorectal Cancer Genetic Heterogeneity Delineated by Multi-Region Sequencing".PLOS ONE 11..3(2016)
