Cargando…
Molecular Alterations in Circulating Cell-Free DNA in Patients with Colorectal Adenoma or Carcinoma
PURPOSE: The aim of this study was to evaluate the clinical value of plasma cell-free DNA (cfDNA) in the diagnosis of colorectal cancer (CRC). PATIENTS AND METHODS: The plasma cfDNA and tissue DNA mutation profiles were investigated in 77 patients (9 colon polyps, 18 colon adenoma, 26 colon cancer,...
Autores principales: | , , , , , , , , , |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Dove
2020
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7335290/ https://www.ncbi.nlm.nih.gov/pubmed/32636678 http://dx.doi.org/10.2147/CMAR.S244520 |
_version_ | 1783554114582478848 |
---|---|
author | Hu, Ying Chen, Yawei Guo, Hao Yu, Jianing Chen, Yanhui Liu, Yang Lan, Ling Li, Jian Wang, Huaqing Zhang, Henghui |
author_facet | Hu, Ying Chen, Yawei Guo, Hao Yu, Jianing Chen, Yanhui Liu, Yang Lan, Ling Li, Jian Wang, Huaqing Zhang, Henghui |
author_sort | Hu, Ying |
collection | PubMed |
description | PURPOSE: The aim of this study was to evaluate the clinical value of plasma cell-free DNA (cfDNA) in the diagnosis of colorectal cancer (CRC). PATIENTS AND METHODS: The plasma cfDNA and tissue DNA mutation profiles were investigated in 77 patients (9 colon polyps, 18 colon adenoma, 26 colon cancer, and 24 rectal cancer) by a cancer gene-targeted NGS panel. RESULTS: During the progression from adenoma to carcinoma, mutations occur in genes such as RAS, Wnt, Hippo, Nrf2, TGFβ, PI3K, Notch, and P53, as well as in those encoding cell cycle pathway components. The somatic mutation burden and plasma cfDNA concentration were significantly higher in the colon carcinoma group than in the adenoma and colon polyp groups. The combination of plasma cfDNA concentration, CEA, and cfDNA had a significantly greater area under the curve than cfDNA or CEA alone. Right-sided colon cancer tissues showed a greater distribution of somatic mutations among more genes than left-sided colon cancer tissues. In addition, tissue tumor mutational burden (TMB) was higher in the right-sided colon cancer group than in the rectal cancer or left-sided colon cancer group (P<0.05). CONCLUSION: These results may indicate that somatic mutations in plasma cfDNA are potential biomarkers for the diagnosis of CRC. In addition, somatic mutations may be distributed in more genes and pathways in right-sided colon cancer than in left-side colon cancer. |
format | Online Article Text |
id | pubmed-7335290 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2020 |
publisher | Dove |
record_format | MEDLINE/PubMed |
spelling | pubmed-73352902020-07-06 Molecular Alterations in Circulating Cell-Free DNA in Patients with Colorectal Adenoma or Carcinoma Hu, Ying Chen, Yawei Guo, Hao Yu, Jianing Chen, Yanhui Liu, Yang Lan, Ling Li, Jian Wang, Huaqing Zhang, Henghui Cancer Manag Res Original Research PURPOSE: The aim of this study was to evaluate the clinical value of plasma cell-free DNA (cfDNA) in the diagnosis of colorectal cancer (CRC). PATIENTS AND METHODS: The plasma cfDNA and tissue DNA mutation profiles were investigated in 77 patients (9 colon polyps, 18 colon adenoma, 26 colon cancer, and 24 rectal cancer) by a cancer gene-targeted NGS panel. RESULTS: During the progression from adenoma to carcinoma, mutations occur in genes such as RAS, Wnt, Hippo, Nrf2, TGFβ, PI3K, Notch, and P53, as well as in those encoding cell cycle pathway components. The somatic mutation burden and plasma cfDNA concentration were significantly higher in the colon carcinoma group than in the adenoma and colon polyp groups. The combination of plasma cfDNA concentration, CEA, and cfDNA had a significantly greater area under the curve than cfDNA or CEA alone. Right-sided colon cancer tissues showed a greater distribution of somatic mutations among more genes than left-sided colon cancer tissues. In addition, tissue tumor mutational burden (TMB) was higher in the right-sided colon cancer group than in the rectal cancer or left-sided colon cancer group (P<0.05). CONCLUSION: These results may indicate that somatic mutations in plasma cfDNA are potential biomarkers for the diagnosis of CRC. In addition, somatic mutations may be distributed in more genes and pathways in right-sided colon cancer than in left-side colon cancer. Dove 2020-06-30 /pmc/articles/PMC7335290/ /pubmed/32636678 http://dx.doi.org/10.2147/CMAR.S244520 Text en © 2020 Hu et al. http://creativecommons.org/licenses/by-nc/3.0/ This work is published and licensed by Dove Medical Press Limited. The full terms of this license are available at https://www.dovepress.com/terms.php and incorporate the Creative Commons Attribution – Non Commercial (unported, v3.0) License (http://creativecommons.org/licenses/by-nc/3.0/). By accessing the work you hereby accept the Terms. Non-commercial uses of the work are permitted without any further permission from Dove Medical Press Limited, provided the work is properly attributed. For permission for commercial use of this work, please see paragraphs 4.2 and 5 of our Terms (https://www.dovepress.com/terms.php). |
spellingShingle | Original Research Hu, Ying Chen, Yawei Guo, Hao Yu, Jianing Chen, Yanhui Liu, Yang Lan, Ling Li, Jian Wang, Huaqing Zhang, Henghui Molecular Alterations in Circulating Cell-Free DNA in Patients with Colorectal Adenoma or Carcinoma |
title | Molecular Alterations in Circulating Cell-Free DNA in Patients with Colorectal Adenoma or Carcinoma |
title_full | Molecular Alterations in Circulating Cell-Free DNA in Patients with Colorectal Adenoma or Carcinoma |
title_fullStr | Molecular Alterations in Circulating Cell-Free DNA in Patients with Colorectal Adenoma or Carcinoma |
title_full_unstemmed | Molecular Alterations in Circulating Cell-Free DNA in Patients with Colorectal Adenoma or Carcinoma |
title_short | Molecular Alterations in Circulating Cell-Free DNA in Patients with Colorectal Adenoma or Carcinoma |
title_sort | molecular alterations in circulating cell-free dna in patients with colorectal adenoma or carcinoma |
topic | Original Research |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7335290/ https://www.ncbi.nlm.nih.gov/pubmed/32636678 http://dx.doi.org/10.2147/CMAR.S244520 |
work_keys_str_mv | AT huying molecularalterationsincirculatingcellfreednainpatientswithcolorectaladenomaorcarcinoma AT chenyawei molecularalterationsincirculatingcellfreednainpatientswithcolorectaladenomaorcarcinoma AT guohao molecularalterationsincirculatingcellfreednainpatientswithcolorectaladenomaorcarcinoma AT yujianing molecularalterationsincirculatingcellfreednainpatientswithcolorectaladenomaorcarcinoma AT chenyanhui molecularalterationsincirculatingcellfreednainpatientswithcolorectaladenomaorcarcinoma AT liuyang molecularalterationsincirculatingcellfreednainpatientswithcolorectaladenomaorcarcinoma AT lanling molecularalterationsincirculatingcellfreednainpatientswithcolorectaladenomaorcarcinoma AT lijian molecularalterationsincirculatingcellfreednainpatientswithcolorectaladenomaorcarcinoma AT wanghuaqing molecularalterationsincirculatingcellfreednainpatientswithcolorectaladenomaorcarcinoma AT zhanghenghui molecularalterationsincirculatingcellfreednainpatientswithcolorectaladenomaorcarcinoma |