GRCh38 · COSMIC v99


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Colorectal Cancer Genetic Heterogeneity Delineated by Multi-Region Sequencing.
Paper ID
Lu YW, Zhang HF, Liang R, Xie ZR, Luo HY, Zeng YJ, Xu Y, Wang LM, Kong XY and Wang KH
Faculty of Environmental Science and Engineering, Kunming University of Science and Technology, Kunming, Yunnan, P.R. China.
PloS one, 2016;11(3):e0152673
ISSN: 1932-6203
PMID: 27023146 (view at PubMed or Europe PMC)
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™ 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 phylogenetic 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.
Paper Status