Comparison of tissue-based and plasma-based testing for mutation in non–small cell lung cancer patients

Background Epidermal growth factor receptor (EGFR) gene mutation testing is crucial for the administration of tyrosine kinase inhibitors to treat non–small cell lung cancer. In addition to traditional tissue-based tests, liquid biopsies using plasma are increasingly utilized, particularly for detect...

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Main Authors: Yoon Kyung Kang, Dong Hoon Shin, Joon Young Park, Chung Su Hwang, Hyun Jung Lee, Jung Hee Lee, Jee Yeon Kim, JooYoung Na
Format: Article
Language:English
Published: Korean Society of Pathologists & the Korean Society for Cytopathology 2025-01-01
Series:Journal of Pathology and Translational Medicine
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Online Access:http://www.jpatholtm.org/upload/pdf/jptm-2024-10-01.pdf
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author Yoon Kyung Kang
Dong Hoon Shin
Joon Young Park
Chung Su Hwang
Hyun Jung Lee
Jung Hee Lee
Jee Yeon Kim
JooYoung Na
author_facet Yoon Kyung Kang
Dong Hoon Shin
Joon Young Park
Chung Su Hwang
Hyun Jung Lee
Jung Hee Lee
Jee Yeon Kim
JooYoung Na
author_sort Yoon Kyung Kang
collection DOAJ
description Background Epidermal growth factor receptor (EGFR) gene mutation testing is crucial for the administration of tyrosine kinase inhibitors to treat non–small cell lung cancer. In addition to traditional tissue-based tests, liquid biopsies using plasma are increasingly utilized, particularly for detecting T790M mutations. This study compared tissue- and plasma-based EGFR testing methods. Methods A total of 248 patients were tested for EGFR mutations using tissue and plasma samples from 2018 to 2023 at Pusan National University Yangsan Hospital. Tissue tests were performed using PANAmutyper, and plasma tests were performed using the Cobas EGFR Mutation Test v2. Results All 248 patients underwent tissue-based EGFR testing, and 245 (98.8%) showed positive results. Of the 408 plasma tests, 237 (58.1%) were positive. For the T790M mutation, tissue biopsies were performed 87 times in 69 patients, and 30 positive cases (38.6%) were detected. Plasma testing for the T790M mutation was conducted 333 times in 207 patients, yielding 62 positive results (18.6%). Of these, 57 (27.5%) were confirmed to have the mutation via plasma testing. Combined tissue and plasma tests for the T790M mutation were positive in nine patients (13.4%), while 17 (25.4%) were positive in tissue only and 12 (17.9%) in plasma only. This mutation was not detected in 28 patients (43.3%). Conclusions Although the tissue- and plasma-based tests showed a sensitivity of 37.3% and 32.8%, respectively, combined testing increased the detection rate to 56.7%. Thus, neither test demonstrated superiority, rather, they were complementary.
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spelling doaj-art-a8c49e347e574849bbaeb327af80638c2025-01-16T08:11:39ZengKorean Society of Pathologists & the Korean Society for CytopathologyJournal of Pathology and Translational Medicine2383-78372383-78452025-01-01591606710.4132/jptm.2024.10.0117137Comparison of tissue-based and plasma-based testing for mutation in non–small cell lung cancer patientsYoon Kyung Kang0Dong Hoon Shin1Joon Young Park2Chung Su Hwang3Hyun Jung Lee4Jung Hee Lee5Jee Yeon Kim6JooYoung Na7 Department of Pathology, Pusan National University School of Medicine, Yangsan, Korea Department of Pathology, Pusan National University School of Medicine, Yangsan, Korea Department of Pathology, Pusan National University School of Medicine, Yangsan, Korea Department of Pathology, Pusan National University School of Medicine, Yangsan, Korea Department of Pathology, Pusan National University School of Medicine, Yangsan, Korea Department of Pathology, Pusan National University School of Medicine, Yangsan, Korea Department of Pathology, Pusan National University School of Medicine, Yangsan, Korea Department of Forensic Medicine, Pusan National University School of Medicine, Yangsan, KoreaBackground Epidermal growth factor receptor (EGFR) gene mutation testing is crucial for the administration of tyrosine kinase inhibitors to treat non–small cell lung cancer. In addition to traditional tissue-based tests, liquid biopsies using plasma are increasingly utilized, particularly for detecting T790M mutations. This study compared tissue- and plasma-based EGFR testing methods. Methods A total of 248 patients were tested for EGFR mutations using tissue and plasma samples from 2018 to 2023 at Pusan National University Yangsan Hospital. Tissue tests were performed using PANAmutyper, and plasma tests were performed using the Cobas EGFR Mutation Test v2. Results All 248 patients underwent tissue-based EGFR testing, and 245 (98.8%) showed positive results. Of the 408 plasma tests, 237 (58.1%) were positive. For the T790M mutation, tissue biopsies were performed 87 times in 69 patients, and 30 positive cases (38.6%) were detected. Plasma testing for the T790M mutation was conducted 333 times in 207 patients, yielding 62 positive results (18.6%). Of these, 57 (27.5%) were confirmed to have the mutation via plasma testing. Combined tissue and plasma tests for the T790M mutation were positive in nine patients (13.4%), while 17 (25.4%) were positive in tissue only and 12 (17.9%) in plasma only. This mutation was not detected in 28 patients (43.3%). Conclusions Although the tissue- and plasma-based tests showed a sensitivity of 37.3% and 32.8%, respectively, combined testing increased the detection rate to 56.7%. Thus, neither test demonstrated superiority, rather, they were complementary.http://www.jpatholtm.org/upload/pdf/jptm-2024-10-01.pdferbb receptorslung cancerliquid biopsy
spellingShingle Yoon Kyung Kang
Dong Hoon Shin
Joon Young Park
Chung Su Hwang
Hyun Jung Lee
Jung Hee Lee
Jee Yeon Kim
JooYoung Na
Comparison of tissue-based and plasma-based testing for mutation in non–small cell lung cancer patients
Journal of Pathology and Translational Medicine
erbb receptors
lung cancer
liquid biopsy
title Comparison of tissue-based and plasma-based testing for mutation in non–small cell lung cancer patients
title_full Comparison of tissue-based and plasma-based testing for mutation in non–small cell lung cancer patients
title_fullStr Comparison of tissue-based and plasma-based testing for mutation in non–small cell lung cancer patients
title_full_unstemmed Comparison of tissue-based and plasma-based testing for mutation in non–small cell lung cancer patients
title_short Comparison of tissue-based and plasma-based testing for mutation in non–small cell lung cancer patients
title_sort comparison of tissue based and plasma based testing for mutation in non small cell lung cancer patients
topic erbb receptors
lung cancer
liquid biopsy
url http://www.jpatholtm.org/upload/pdf/jptm-2024-10-01.pdf
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