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Article

High Concordance of Genomic Profiles between Primary and Metastatic Colorectal Cancer

1
Department of Pathology, School of Medicine, Konkuk University, Seoul 05030, Korea
2
Department of Pathology, Busan Paik Hospital, College of Medicine, Inje University, Busan 47392, Korea
3
Department of Surgery, School of Medicine, Konkuk University, Seoul 05030, Korea
*
Authors to whom correspondence should be addressed.
Academic Editor: Carlos Flores
Int. J. Mol. Sci. 2021, 22(11), 5561; https://doi.org/10.3390/ijms22115561
Received: 16 April 2021 / Revised: 3 May 2021 / Accepted: 16 May 2021 / Published: 24 May 2021
(This article belongs to the Special Issue Biomarkers of Colorectal Cancer)
The comparison of the genetic profiles between primary and metastatic colorectal cancer (CRC) is needed to enable the discovery of useful therapeutic targets against metastatic CRCs. We performed the targeted next generation sequencing assay of 170 cancer-associated genes for 142 metastatic CRCs, including 95 pairs of primary and metastatic CRCs, to reveal their genomic characteristics and to assess the genetic heterogeneity. The most frequently mutated gene in primary and metastatic CRCs was APC (71% vs. 65%), TP53 (54% vs. 57%), KRAS (45% vs. 44%), PIK3CA (16% vs. 19%), SMAD4 (15% vs. 14%) and FBXW7 (11% vs. 11%). The concordance in the top six frequently mutated genes was 85%, on average. The overall mutation frequencies were consistent with two sets of public data (TCGA and MSKCC). To the author’s knowledge, this is the first study to compare the genetic profiles of our cohort with that of the metastatic CRCs from MSKCC. Comparative sequencing analysis between primary and metastatic CRCs revealed a high degree of genetic concordance in the current clinically actionable genes. Therefore, the genetic investigation of archived primary tumor samples with the challenges of obtaining an adequate sample from metastatic sites appears to be sufficient for the application of cancer precision medicine in the metastatic setting. View Full-Text
Keywords: metastatic colorectal cancer; genomic profiles; high concordance between primary and metastatic colorectal cancer metastatic colorectal cancer; genomic profiles; high concordance between primary and metastatic colorectal cancer
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    Doi: 10.5281/zenodo.4696204
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    Description: Supplementary table 1. Full list of variants Supplementary table 2. Gene list included in Custom Cancer Panel (170 cancer-related genes)
MDPI and ACS Style

Lee, S.E.; Park, H.Y.; Hwang, D.-Y.; Han, H.S. High Concordance of Genomic Profiles between Primary and Metastatic Colorectal Cancer. Int. J. Mol. Sci. 2021, 22, 5561. https://doi.org/10.3390/ijms22115561

AMA Style

Lee SE, Park HY, Hwang D-Y, Han HS. High Concordance of Genomic Profiles between Primary and Metastatic Colorectal Cancer. International Journal of Molecular Sciences. 2021; 22(11):5561. https://doi.org/10.3390/ijms22115561

Chicago/Turabian Style

Lee, Seung E., Ha Y. Park, Dae-Yong Hwang, and Hye S. Han 2021. "High Concordance of Genomic Profiles between Primary and Metastatic Colorectal Cancer" International Journal of Molecular Sciences 22, no. 11: 5561. https://doi.org/10.3390/ijms22115561

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