Genetic characteristics of isolated lung metastasis and isolated liver metastasis from colorectal cancer
WANG Zhenghang
ZHENG Xue
WANG Xicheng
YU Jianing
LI Zhongwu
SHEN Lin
YANG Wanning
CHEN Yawei
LI Jian
Abstract：Objective To explore the genetic characteristics of lung metastases and liver metastases from colorectal cancer (CRC). Methods Tissue samples of the primary tumors and metastatic lesions from 19 CRC patients with isolated lung metastases (LuM Cohort), 19 with isolated liver metastases (LiM Cohort), and 12 without metastases ( Control Cohort) were chosen from the CRC Database (1996-2018) and sequenced by the next generation sequencing. Single nucleotide variations (SNVs) and copy number variations (CNVs) were analyzed. After the quality control, the sample sizes involved in the final analysis were 17 primary tumors and 16 metastatic lesions in the LuM Cohort, 17 primary tumors and 19 metastatic lesions in the LiM Cohort, and 12 primary tumors in the Control Cohort. Results No SNV differences were observed among LuM, LiM and Control Cohorts. For primary tumors, ZFHX4 (91. 2% vs. 8. 3%), FAM131B (32. 4% vs. 0. 0%), GATA2 ( 32. 4% vs. 0. 0%) and FOXL2 ( 32. 4% vs. 0. 0%) were amplified significantly more frequently in the Metastatic Cohorts than the Control Cohort, while RECQL4 amplification (8. 8% vs. 75. 0%) and CYP2A6 loss (2. 9% vs. 33. 3%) were more in the Control Cohort. Frequencies of amplification of HNF4A (41. 2% vs. 0. 0%), BRD4 (47. 1% vs.5. 9%) and U2AF1 (35. 3% vs.0. 0%) were significantly higher in the LuM Cohort than the LiM Cohort.For meta-static lesions, amplification of MET (25. 0% vs.0. 0%), SDHC (25. 0% vs.0. 0%) and genetic alterations in the RTK／RAS pathway (100. 0% vs. 73. 7%) were more frequent in the LuM Cohort than the LiM Cohort, while frequencies of ZFHX4 (50. 0% vs. 89. 5%, P＝0. 022) and FOXL2 (18. 8% vs.68. 4%) were more in the LiM Cohort. Conclusion CNV features of the primary tumors were as-sociated with different potential of metastases, based on which we could identify patients at high risk of metastases and optimize perio-pertive strategies. MET and SDHC amplification as well as RTK／RAS pathway activation were more frequently in lung metastases.
Keywords：Colorectal cancerLung metastasisLiver metastasisAmplificationMolecular pathway
Publication Date：2019-01-01
Online Publishing Date：2025-08-15(First online date of this platform, not the publication date of the document)
Pages：5( 743-747 )