Clinical Implication of Concordant or Discordant Genomic Profiling between Primary and Matched Metastatic Tissues in Patients with Colorectal Cancer

Jung Yoon Choi, Sunho Choi, Minhyeok Lee, Young Soo Park, Jae Sook Sung, Won Jin Chang, Ju Won Kim, Yoon Ji Choi, Jin Kim, Dong Sik Kim, Sung Ho Lee, Junhee Seok, Kyong Hwa Park, Seon Hahn Kim, Yeul Hong Kim

Research output: Contribution to journalArticlepeer-review

6 Citations (Scopus)


Original Article Purpose The purpose of this study was to identify the concordant or discordant genomic profiling between primary and matched metastatic tumors in patients with colorectal cancer (CRC) and to explore the clinical implication. Materials and Methods Surgical samples of primary and matched metastatic tissues from 158 patients (335 samples) with CRC at Korea University Anam Hospital were evaluated using the Ion AmpliSeq Cancer Hotspot Panel. We compared genetic variants and classified them as concordant, primary-specific, and metastasis-specific variants. We used a combination of principal components analysis and clustering to find genomic groups. Kaplan-Meier curves were used to appraise survival between genomic groups. We used machine learning to confirm the correlation between genetic variants and metastatic sites. Results A total of 282 types of deleterious non-synonymous variants were selected for analysis. Of a total of 897 variants, an average of 40% was discordant. Three genomic groups were yielded based on the genomic discrepancy patterns. Overall survival differed significantly between the genomic groups. The poorest group had the highest proportion of concordant KRAS G12V and additional metastasis-specific SMAD4. Correlation analysis between genetic variants and metastatic sites suggested that concordant KRAS mutations would have more disseminated metastases. Conclusion Driver gene mutations were mostly concordant; however, discordant or metastasis-specific mutations were present. Clinically, the concordant driver genetic changes with additional metastasis-specific variants can predict poor prognosis for patients with CRC.

Original languageEnglish
Pages (from-to)764-778
Number of pages15
JournalCancer Research and Treatment
Issue number3
Publication statusPublished - 2020 Jul 1

Bibliographical note

Funding Information:
This work was supported by the Basic Science Research Program through the National Research Foundation of Korea (NRF) funded by the Ministry of Science and ICT (grant numbers NRF-2017R1A-2B3004624, NRF-2017R1C1B2002850).

Publisher Copyright:
© 2020 Korean Cancer Association. All rights reserved.


  • Colorectal neoplasms
  • Genomics
  • Neoplasm metastasis
  • Principal component analysis
  • Survival

ASJC Scopus subject areas

  • Oncology
  • Cancer Research


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