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Concordance of Genomic Profiles in Matched Tissue and Plasma Samples From Chinese Patients With Lung Cancer
BACKGROUND: Next-generation sequencing (NGS) has been widely used to identify targetable variants for patients with solid tumors, especially lung cancer. Circulating tumor DNA (ctDNA) has emerged as an alternative approach for tumor biopsy. However, the feasibility of ctDNA in detecting molecular va...
Autores principales: | , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
SAGE Publications
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9597027/ https://www.ncbi.nlm.nih.gov/pubmed/36310733 http://dx.doi.org/10.1177/11795549221116834 |
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author | He, Yueming Guo, Weifeng Xu, Meng Huang, Junling Zhang, Xiange Su, Huanzhang Hong, Dongxia Liu, Qun |
author_facet | He, Yueming Guo, Weifeng Xu, Meng Huang, Junling Zhang, Xiange Su, Huanzhang Hong, Dongxia Liu, Qun |
author_sort | He, Yueming |
collection | PubMed |
description | BACKGROUND: Next-generation sequencing (NGS) has been widely used to identify targetable variants for patients with solid tumors, especially lung cancer. Circulating tumor DNA (ctDNA) has emerged as an alternative approach for tumor biopsy. However, the feasibility of ctDNA in detecting molecular variants remains debatable. METHODS: Herein, we performed NGS on matched tissue and plasma samples from 146 Chinese patients with lung cancer. The concordance of variants between tissue and plasma samples was explored at patient and variant levels. RESULTS: More than 80% of patients harbored at least one concordant variant in tissue and plasma samples. A total of 506 variants were shared between tissue and plasma samples, and 432 variants were identified in tissue only and 92 variants were identified in plasma only. The sensitivity and positive predictive value (PPV) of all variants detected in plasma were 53.9% and 84.6%, respectively. High concordance was observed in several driver genes. In details, epidermal growth factor receptor exon 19 deletion (EGFR 19del), EGFR p.S768I, anaplastic lymphoma kinase (ALK) fusion, rearranged during transfection (RET) fusion, and kirsten rat sarcoma viral oncogene homolog (KRAS) p.G12C achieved a sensitivity of 90%, 100%, 85.7%, 100%, and 85.7%, respectively. Four EGFR-altered lung adenocarcinoma patients who underwent ctDNA-based NGS at initial diagnosis benefited from first-line gefitinib/icotinib with a median progression-free survival of 379.5 days. CONCLUSIONS: Our work provided the clinical evidence of feasibility of ctDNA-based NGS in guiding decision-making in treatment. ctDNA-based NGA could be a reliable alternative approach for tissue biopsy in patients with lung cancer. |
format | Online Article Text |
id | pubmed-9597027 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2022 |
publisher | SAGE Publications |
record_format | MEDLINE/PubMed |
spelling | pubmed-95970272022-10-27 Concordance of Genomic Profiles in Matched Tissue and Plasma Samples From Chinese Patients With Lung Cancer He, Yueming Guo, Weifeng Xu, Meng Huang, Junling Zhang, Xiange Su, Huanzhang Hong, Dongxia Liu, Qun Clin Med Insights Oncol Original Research Article BACKGROUND: Next-generation sequencing (NGS) has been widely used to identify targetable variants for patients with solid tumors, especially lung cancer. Circulating tumor DNA (ctDNA) has emerged as an alternative approach for tumor biopsy. However, the feasibility of ctDNA in detecting molecular variants remains debatable. METHODS: Herein, we performed NGS on matched tissue and plasma samples from 146 Chinese patients with lung cancer. The concordance of variants between tissue and plasma samples was explored at patient and variant levels. RESULTS: More than 80% of patients harbored at least one concordant variant in tissue and plasma samples. A total of 506 variants were shared between tissue and plasma samples, and 432 variants were identified in tissue only and 92 variants were identified in plasma only. The sensitivity and positive predictive value (PPV) of all variants detected in plasma were 53.9% and 84.6%, respectively. High concordance was observed in several driver genes. In details, epidermal growth factor receptor exon 19 deletion (EGFR 19del), EGFR p.S768I, anaplastic lymphoma kinase (ALK) fusion, rearranged during transfection (RET) fusion, and kirsten rat sarcoma viral oncogene homolog (KRAS) p.G12C achieved a sensitivity of 90%, 100%, 85.7%, 100%, and 85.7%, respectively. Four EGFR-altered lung adenocarcinoma patients who underwent ctDNA-based NGS at initial diagnosis benefited from first-line gefitinib/icotinib with a median progression-free survival of 379.5 days. CONCLUSIONS: Our work provided the clinical evidence of feasibility of ctDNA-based NGS in guiding decision-making in treatment. ctDNA-based NGA could be a reliable alternative approach for tissue biopsy in patients with lung cancer. SAGE Publications 2022-10-20 /pmc/articles/PMC9597027/ /pubmed/36310733 http://dx.doi.org/10.1177/11795549221116834 Text en © The Author(s) 2022 https://creativecommons.org/licenses/by-nc/4.0/This article is distributed under the terms of the Creative Commons Attribution-NonCommercial 4.0 License (https://creativecommons.org/licenses/by-nc/4.0/) which permits non-commercial use, reproduction and distribution of the work without further permission provided the original work is attributed as specified on the SAGE and Open Access pages (https://us.sagepub.com/en-us/nam/open-access-at-sage). |
spellingShingle | Original Research Article He, Yueming Guo, Weifeng Xu, Meng Huang, Junling Zhang, Xiange Su, Huanzhang Hong, Dongxia Liu, Qun Concordance of Genomic Profiles in Matched Tissue and Plasma Samples From Chinese Patients With Lung Cancer |
title | Concordance of Genomic Profiles in Matched Tissue and Plasma Samples
From Chinese Patients With Lung Cancer |
title_full | Concordance of Genomic Profiles in Matched Tissue and Plasma Samples
From Chinese Patients With Lung Cancer |
title_fullStr | Concordance of Genomic Profiles in Matched Tissue and Plasma Samples
From Chinese Patients With Lung Cancer |
title_full_unstemmed | Concordance of Genomic Profiles in Matched Tissue and Plasma Samples
From Chinese Patients With Lung Cancer |
title_short | Concordance of Genomic Profiles in Matched Tissue and Plasma Samples
From Chinese Patients With Lung Cancer |
title_sort | concordance of genomic profiles in matched tissue and plasma samples
from chinese patients with lung cancer |
topic | Original Research Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9597027/ https://www.ncbi.nlm.nih.gov/pubmed/36310733 http://dx.doi.org/10.1177/11795549221116834 |
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