Plasma ctDNA increases tissue NGS-based detection of therapeutically targetable mutations in lung cancers

Sep 24, 2026

Circulating tumor DNA (ctDNA) is presented as a convenient, noninvasive approach for dynamically monitoring genomic information to support personalized cancer care. This study assesses the additional value of plasma ctDNA compared with routine tissue next generation sequencing (NGS) for detecting therapeutically targetable mutations in lung cancers. NGS profiling covers tumor tissues and peripheral blood from 423 patients, evaluating concordance, sensitivity, and added mutation detection.

LanguageEnglish

CategoryHealthcare

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Pages10

Reading Time25 min

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Abstract

Background

Methods

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Xie etal. BMC Cancer (2023) 23:294 BMC Cancer [https://doi.org/10.1186/s12885-023-10674-z](https://doi.org/10.1186/s12885-023-10674-z) RESEARCH Open Access Plasma ctDNA increases tissue NGS-based detection of therapeutically targetable mutations in lung cancers Jianjiang Xie1†, Weishen Yao2†, Lingxiu Chen3†, Wenjun Zhu4, Qiang Liu5, Geng Geng6, Jing Fang7, Yang Zhao8, Li Xiao7*, Zhenhua Huang9* and Jing Zhao4* Abstract Background Circulating tumor DNA (ctDNA) has been becoming a novel convenient and noninvasive method for dynamically monitoring landscape of genomic information to guild personalized cancer treatment. In this study we comprehensively evaluated the additional value of plasma ctDNA to routine tissue next generation sequencing (NGS) of therapeutically targetable mutations in lung cancers. Methods The tumor tissues and peripheral blood samples from 423 cases of patients with lung cancer were subjected to NGS of mutations in oncodrivers (EGFR, ERBB2, ALK, ROS1, C-MET, KRAS, BRAF, RET, BRCA1 and BRCA2) . Results One hundred and ninety-seven cases showed both plasma and tissue positive and 96 showed both negative. The concordance for tissue and blood detection was 69 . 27%(293/423) . 83 (19 . 62%) cases showed positive by tissue NGS alone and 47 (11 . 11%) positive by plasma ctDNA alone. The sensitivity of tissue and plasma detection was 85 . 63%, and 74. 62%, respectively. Plasma had lower detection and sensitivity than tissue, but plasma additionally detected some important mutations which were omitted by tissue NGS. Plasma plus tissue increased the detection rate of 66 . 19% by tissue alone to 77 . 30% as well as the sensitivity of 85 . 63–100% . Similar results were also observed when the cases were classified into subpopulations according to different stages (IV vs. III vs. I-II), grades (low vs. middle grade) and metastatic status (metastasis vs. no metastasis) . Conclusion Plasma ctDNA shares a high concordance with tissue NGS, and plasma plus tissue enhances the detection rate and sensitivity by tissue alone, implying that the tissue and plasma detection should be mutually complementary in the clinical application. Keywords Lung cancer, Next generation sequencing, Plasma, Circulating tumor DNA †Jianjiang Xie, Weishen Yao, and Lingxiu Chen contributed equally asco-first authors. *Correspondence: Li Xiao [XiaoLi20210304@163.com](XiaoLi20210304@163.com)[ ](XiaoLi20210304@163.com)Zhenhua Huang [Welstan7@163.com](Welstan7@163.com) Jing Zhao [jzhao@tjh.tjmu.edu.cn](jzhao@tjh.tjmu.edu.cn) Full list of author information is available at the end of the article © The Author(s) 2023. Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit [http://creativecommons.org/licenses/by/4.0/](http://creativecommons.org/licenses/by/4.0/. The)[. The](http://creativecommons.org/licenses/by/4.0/. The)[ ](http://creativecommons.org/licenses/by/4.0/. The)Creative Commons Public Domain Dedication waiver ([http://creativecommons.org/publicdomain/zero/1.0/](http://creativecommons.org/publicdomain/zero/1.0/)) applies to the data made available in this article, unless otherwise stated in a credit line to the data. Xie et al. BMC Cancer (2023) 23:294 Introduction A recent

FAQs

What was the main objective of the study?

To evaluate the added value of plasma ctDNA to routine tissue NGS for detecting therapeutically targetable mutations in lung cancers.

How many patient cases were analyzed and what samples were used?

Tumor tissues and peripheral blood samples from 423 lung cancer patients were analyzed using NGS for multiple therapeutically targetable genes.

What was the key finding about combining plasma ctDNA with tissue NGS?

Plasma ctDNA and tissue NGS showed high concordance, and using both increased the detection rate and sensitivity compared with tissue NGS alone.

Sep 24, 2026

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