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The mutation profiles of cell-free DNA in patients with oesophageal squamous cell carcinoma who were responsive and non-responsive to neoadjuvant chemotherapy
BACKGROUND: The aim of this study was to evaluate the clinical value of plasma cell-free DNA (cfDNA) mutation profiles in patients with oesophageal squamous cell carcinoma (OSCC) who received neoadjuvant chemotherapy. METHODS: Twenty-two OSCC patients received neoadjuvant chemotherapy and were divid...
Autores principales: | , , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
AME Publishing Company
2020
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7475527/ https://www.ncbi.nlm.nih.gov/pubmed/32944339 http://dx.doi.org/10.21037/jtd-20-230 |
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author | Zhang, Ruixiang Hu, Ying Zhou, Tao Han, Wenbo Liu, Yang Qian, Juanjuan Chen, Yanhui Liu, Xianben Liu, Shilei Yu, Yongkui Zeng, Hui Zhang, Henghui Li, Yin |
author_facet | Zhang, Ruixiang Hu, Ying Zhou, Tao Han, Wenbo Liu, Yang Qian, Juanjuan Chen, Yanhui Liu, Xianben Liu, Shilei Yu, Yongkui Zeng, Hui Zhang, Henghui Li, Yin |
author_sort | Zhang, Ruixiang |
collection | PubMed |
description | BACKGROUND: The aim of this study was to evaluate the clinical value of plasma cell-free DNA (cfDNA) mutation profiles in patients with oesophageal squamous cell carcinoma (OSCC) who received neoadjuvant chemotherapy. METHODS: Twenty-two OSCC patients received neoadjuvant chemotherapy and were divided into two groups according to their response to the therapy. Fifteen patients were in the responsive group, and seven patients were in the non-responsive group. The blood samples were collected, and the plasma cfDNA mutation profiles were sequenced by a cancer gene-targeted next-generation sequencing (NGS) panel. RESULTS: The driver gene molecular mutation burden (MMB) was significantly higher in the non-responsive group compared with the responsive group. Furthermore, we found that the differential MMB included the DNA damage response, Wnt, PI3K, Hippo, RTK/RAS, p53, and AHR pathway. The MMB yielded an area under the receiver operation characteristic (ROC) curve of 0.89 for predicting the response to neoadjuvant chemotherapy. The cfDNA copy number variations (CNVs) yielded an area under ROC curve of 1.0 for predicting the response to neoadjuvant chemotherapy. CONCLUSIONS: The driver gene MMB and CNVs in plasma cfDNA may be potential biomarkers for predicting the response to neoadjuvant chemotherapy in patients with OSCC. |
format | Online Article Text |
id | pubmed-7475527 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2020 |
publisher | AME Publishing Company |
record_format | MEDLINE/PubMed |
spelling | pubmed-74755272020-09-16 The mutation profiles of cell-free DNA in patients with oesophageal squamous cell carcinoma who were responsive and non-responsive to neoadjuvant chemotherapy Zhang, Ruixiang Hu, Ying Zhou, Tao Han, Wenbo Liu, Yang Qian, Juanjuan Chen, Yanhui Liu, Xianben Liu, Shilei Yu, Yongkui Zeng, Hui Zhang, Henghui Li, Yin J Thorac Dis Original Article BACKGROUND: The aim of this study was to evaluate the clinical value of plasma cell-free DNA (cfDNA) mutation profiles in patients with oesophageal squamous cell carcinoma (OSCC) who received neoadjuvant chemotherapy. METHODS: Twenty-two OSCC patients received neoadjuvant chemotherapy and were divided into two groups according to their response to the therapy. Fifteen patients were in the responsive group, and seven patients were in the non-responsive group. The blood samples were collected, and the plasma cfDNA mutation profiles were sequenced by a cancer gene-targeted next-generation sequencing (NGS) panel. RESULTS: The driver gene molecular mutation burden (MMB) was significantly higher in the non-responsive group compared with the responsive group. Furthermore, we found that the differential MMB included the DNA damage response, Wnt, PI3K, Hippo, RTK/RAS, p53, and AHR pathway. The MMB yielded an area under the receiver operation characteristic (ROC) curve of 0.89 for predicting the response to neoadjuvant chemotherapy. The cfDNA copy number variations (CNVs) yielded an area under ROC curve of 1.0 for predicting the response to neoadjuvant chemotherapy. CONCLUSIONS: The driver gene MMB and CNVs in plasma cfDNA may be potential biomarkers for predicting the response to neoadjuvant chemotherapy in patients with OSCC. AME Publishing Company 2020-08 /pmc/articles/PMC7475527/ /pubmed/32944339 http://dx.doi.org/10.21037/jtd-20-230 Text en 2020 Journal of Thoracic Disease. All rights reserved. https://creativecommons.org/licenses/by-nc-nd/4.0/Open Access Statement: This is an Open Access article distributed in accordance with the Creative Commons Attribution-NonCommercial-NoDerivs 4.0 International License (CC BY-NC-ND 4.0), which permits the non-commercial replication and distribution of the article with the strict proviso that no changes or edits are made and the original work is properly cited (including links to both the formal publication through the relevant DOI and the license). See: https://creativecommons.org/licenses/by-nc-nd/4.0 (https://creativecommons.org/licenses/by-nc-nd/4.0/) . |
spellingShingle | Original Article Zhang, Ruixiang Hu, Ying Zhou, Tao Han, Wenbo Liu, Yang Qian, Juanjuan Chen, Yanhui Liu, Xianben Liu, Shilei Yu, Yongkui Zeng, Hui Zhang, Henghui Li, Yin The mutation profiles of cell-free DNA in patients with oesophageal squamous cell carcinoma who were responsive and non-responsive to neoadjuvant chemotherapy |
title | The mutation profiles of cell-free DNA in patients with oesophageal squamous cell carcinoma who were responsive and non-responsive to neoadjuvant chemotherapy |
title_full | The mutation profiles of cell-free DNA in patients with oesophageal squamous cell carcinoma who were responsive and non-responsive to neoadjuvant chemotherapy |
title_fullStr | The mutation profiles of cell-free DNA in patients with oesophageal squamous cell carcinoma who were responsive and non-responsive to neoadjuvant chemotherapy |
title_full_unstemmed | The mutation profiles of cell-free DNA in patients with oesophageal squamous cell carcinoma who were responsive and non-responsive to neoadjuvant chemotherapy |
title_short | The mutation profiles of cell-free DNA in patients with oesophageal squamous cell carcinoma who were responsive and non-responsive to neoadjuvant chemotherapy |
title_sort | mutation profiles of cell-free dna in patients with oesophageal squamous cell carcinoma who were responsive and non-responsive to neoadjuvant chemotherapy |
topic | Original Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7475527/ https://www.ncbi.nlm.nih.gov/pubmed/32944339 http://dx.doi.org/10.21037/jtd-20-230 |
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