Differences in the genomic profiles of cell‐free DNA between plasma, sputum, urine, and tumor tissue in advanced NSCLC

Abstract Liquid biopsy has provided an efficient way for detection of gene alterations in advanced non‐small‐cell lung cancer (NSCLC). However, the correlation between systematic determination of somatic genomic alterations in liquid biopsy and tumor biopsy still remained unclear, and the concordanc...

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Main Authors: Zhen Wu, Zhen Yang, Chun Sun Li, Wei Zhao, Zhi Xin Liang, Yu Dai, Qiang Zhu, Kai Ling Miao, Dong Hua Cui, Liang An Chen
Format: Article
Language:English
Published: Wiley 2019-03-01
Series:Cancer Medicine
Subjects:
Online Access:https://doi.org/10.1002/cam4.1935
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author Zhen Wu
Zhen Yang
Chun Sun Li
Wei Zhao
Zhi Xin Liang
Yu Dai
Qiang Zhu
Kai Ling Miao
Dong Hua Cui
Liang An Chen
author_facet Zhen Wu
Zhen Yang
Chun Sun Li
Wei Zhao
Zhi Xin Liang
Yu Dai
Qiang Zhu
Kai Ling Miao
Dong Hua Cui
Liang An Chen
author_sort Zhen Wu
collection DOAJ
description Abstract Liquid biopsy has provided an efficient way for detection of gene alterations in advanced non‐small‐cell lung cancer (NSCLC). However, the correlation between systematic determination of somatic genomic alterations in liquid biopsy and tumor biopsy still remained unclear, and the concordance rate between cell‐free DNA (cfDNA) and matched tumor tissue DNA needs to be increased. A prospective study was performed to detect differences in genetic profiles of cfDNA in sputum, plasma, urine, and tumor tissue from 50 advanced NSCLC patients in parallel by the same next‐generation sequencing (NGS) platform. Driver genes alterations were identified in cfDNA sample and matched tumor sample, with an overall concordance rate of 86% in plasma cfDNA, 74% in sputum cfDNA, 70% in urine cfDNA, and 90% in cfDNA of combination of plasma, sputum, and urine. And the concordant rate of cfDNA in sputum in patients with smoking history was higher than that in patients without history of smoking (89% vs. 66%, P = 0.033) and equal to that in plasma cfDNA of the smoking patients (89% vs. 89%). In conclusion, sputum cfDNA can be considered as an alternative medium to liquid biopsy, while the complementarity of genomic profiles in cfDNA among plasma, sputum, and urine was beneficial to detect more diver genes alterations and improve the utility of liquid biopsy in advanced NSCLC (Liquid Biopsy for Detection of Driver Mutation in NSCLC; NCT02778854).
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spelling doaj-art-465836a00d6b4cb890efa1c78b6690952025-01-31T08:47:42ZengWileyCancer Medicine2045-76342019-03-018391091910.1002/cam4.1935Differences in the genomic profiles of cell‐free DNA between plasma, sputum, urine, and tumor tissue in advanced NSCLCZhen Wu0Zhen Yang1Chun Sun Li2Wei Zhao3Zhi Xin Liang4Yu Dai5Qiang Zhu6Kai Ling Miao7Dong Hua Cui8Liang An Chen9Respiratory Department of Chinese PLA General Hospital Beijing ChinaRespiratory Department of Chinese PLA General Hospital Beijing ChinaRespiratory Department of Chinese PLA General Hospital Beijing ChinaRespiratory Department of Chinese PLA General Hospital Beijing ChinaRespiratory Department of Chinese PLA General Hospital Beijing ChinaRespiratory Department of Chinese PLA General Hospital Beijing ChinaRespiratory Department of Chinese PLA General Hospital Beijing ChinaRespiratory Department of Chinese PLA General Hospital Beijing ChinaRespiratory Department of Chinese PLA General Hospital Beijing ChinaRespiratory Department of Chinese PLA General Hospital Beijing ChinaAbstract Liquid biopsy has provided an efficient way for detection of gene alterations in advanced non‐small‐cell lung cancer (NSCLC). However, the correlation between systematic determination of somatic genomic alterations in liquid biopsy and tumor biopsy still remained unclear, and the concordance rate between cell‐free DNA (cfDNA) and matched tumor tissue DNA needs to be increased. A prospective study was performed to detect differences in genetic profiles of cfDNA in sputum, plasma, urine, and tumor tissue from 50 advanced NSCLC patients in parallel by the same next‐generation sequencing (NGS) platform. Driver genes alterations were identified in cfDNA sample and matched tumor sample, with an overall concordance rate of 86% in plasma cfDNA, 74% in sputum cfDNA, 70% in urine cfDNA, and 90% in cfDNA of combination of plasma, sputum, and urine. And the concordant rate of cfDNA in sputum in patients with smoking history was higher than that in patients without history of smoking (89% vs. 66%, P = 0.033) and equal to that in plasma cfDNA of the smoking patients (89% vs. 89%). In conclusion, sputum cfDNA can be considered as an alternative medium to liquid biopsy, while the complementarity of genomic profiles in cfDNA among plasma, sputum, and urine was beneficial to detect more diver genes alterations and improve the utility of liquid biopsy in advanced NSCLC (Liquid Biopsy for Detection of Driver Mutation in NSCLC; NCT02778854).https://doi.org/10.1002/cam4.1935cell‐free DNAliquid biopsylung cancernext‐generation sequencingsputum
spellingShingle Zhen Wu
Zhen Yang
Chun Sun Li
Wei Zhao
Zhi Xin Liang
Yu Dai
Qiang Zhu
Kai Ling Miao
Dong Hua Cui
Liang An Chen
Differences in the genomic profiles of cell‐free DNA between plasma, sputum, urine, and tumor tissue in advanced NSCLC
Cancer Medicine
cell‐free DNA
liquid biopsy
lung cancer
next‐generation sequencing
sputum
title Differences in the genomic profiles of cell‐free DNA between plasma, sputum, urine, and tumor tissue in advanced NSCLC
title_full Differences in the genomic profiles of cell‐free DNA between plasma, sputum, urine, and tumor tissue in advanced NSCLC
title_fullStr Differences in the genomic profiles of cell‐free DNA between plasma, sputum, urine, and tumor tissue in advanced NSCLC
title_full_unstemmed Differences in the genomic profiles of cell‐free DNA between plasma, sputum, urine, and tumor tissue in advanced NSCLC
title_short Differences in the genomic profiles of cell‐free DNA between plasma, sputum, urine, and tumor tissue in advanced NSCLC
title_sort differences in the genomic profiles of cell free dna between plasma sputum urine and tumor tissue in advanced nsclc
topic cell‐free DNA
liquid biopsy
lung cancer
next‐generation sequencing
sputum
url https://doi.org/10.1002/cam4.1935
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