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Detection of EGFR mutation of pulmonary adenocarcinoma in sputum using droplet digital PCR

BACKGROUND: It is still unclear whether epidermal growth factor receptor (EGFR) mutation of primary lung adenocarcinoma can be detected on sputum samples. This study aimed to examine EGFR mutations of primary lung adenocarcinoma in sputum samples using droplet digital polymerase chain reaction (ddPC...

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Autores principales: Isaka, Tetsuya, Yokose, Tomoyuki, Ito, Hiroyuki, Nakayama, Haruhiko, Miyagi, Yohei, Saito, Haruhiro, Masuda, Munetaka
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7988937/
https://www.ncbi.nlm.nih.gov/pubmed/33757469
http://dx.doi.org/10.1186/s12890-021-01468-9
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author Isaka, Tetsuya
Yokose, Tomoyuki
Ito, Hiroyuki
Nakayama, Haruhiko
Miyagi, Yohei
Saito, Haruhiro
Masuda, Munetaka
author_facet Isaka, Tetsuya
Yokose, Tomoyuki
Ito, Hiroyuki
Nakayama, Haruhiko
Miyagi, Yohei
Saito, Haruhiro
Masuda, Munetaka
author_sort Isaka, Tetsuya
collection PubMed
description BACKGROUND: It is still unclear whether epidermal growth factor receptor (EGFR) mutation of primary lung adenocarcinoma can be detected on sputum samples. This study aimed to examine EGFR mutations of primary lung adenocarcinoma in sputum samples using droplet digital polymerase chain reaction (ddPCR) and compare it with an EGFR mutation in surgically resected lung cancer. METHODS: Sputum was prospectively collected from the patients before complete resection of the primary lung cancer at Kanagawa Cancer Center from September 2014 to May 2016. ddPCR was performed to detect EGFR exon 21 L858R point mutation (Ex21) and EGFR exon 19 deletion mutation (Ex19) in sputum samples from patients with lung adenocarcinoma. The concordance of EGFR mutation status in sputum samples and tumors in surgically resected specimen was evaluated for each positive and negative cytology group. RESULTS: One hundred and eighteen patients with primary lung adenocarcinoma provided sputum samples. Sputum cytology was positive in 13 patients (11.0%). ddPCR detected two cases of Ex21 and two cases of Ex19 in sputum cytology positive cases. Compared to surgically resected specimens, the sensitivity, specificity, and positive predictive value of EGFR mutation (Ex19 and Ex21) detection were 80.0%, 100%, and 100%, respectively, in sputum cytology positive cases. In contrast, the sensitivity, specificity, and positive predictive value of EGFR mutation (Ex19 and Ex21) detection were 3.1%, 100%, and 100%, respectively, in sputum cytology negative cases. CONCLUSIONS: EGFR mutations in primary lung adenocarcinoma can be detected with high sensitivity in sputum samples if sputum cytology is positive.
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spelling pubmed-79889372021-03-25 Detection of EGFR mutation of pulmonary adenocarcinoma in sputum using droplet digital PCR Isaka, Tetsuya Yokose, Tomoyuki Ito, Hiroyuki Nakayama, Haruhiko Miyagi, Yohei Saito, Haruhiro Masuda, Munetaka BMC Pulm Med Article BACKGROUND: It is still unclear whether epidermal growth factor receptor (EGFR) mutation of primary lung adenocarcinoma can be detected on sputum samples. This study aimed to examine EGFR mutations of primary lung adenocarcinoma in sputum samples using droplet digital polymerase chain reaction (ddPCR) and compare it with an EGFR mutation in surgically resected lung cancer. METHODS: Sputum was prospectively collected from the patients before complete resection of the primary lung cancer at Kanagawa Cancer Center from September 2014 to May 2016. ddPCR was performed to detect EGFR exon 21 L858R point mutation (Ex21) and EGFR exon 19 deletion mutation (Ex19) in sputum samples from patients with lung adenocarcinoma. The concordance of EGFR mutation status in sputum samples and tumors in surgically resected specimen was evaluated for each positive and negative cytology group. RESULTS: One hundred and eighteen patients with primary lung adenocarcinoma provided sputum samples. Sputum cytology was positive in 13 patients (11.0%). ddPCR detected two cases of Ex21 and two cases of Ex19 in sputum cytology positive cases. Compared to surgically resected specimens, the sensitivity, specificity, and positive predictive value of EGFR mutation (Ex19 and Ex21) detection were 80.0%, 100%, and 100%, respectively, in sputum cytology positive cases. In contrast, the sensitivity, specificity, and positive predictive value of EGFR mutation (Ex19 and Ex21) detection were 3.1%, 100%, and 100%, respectively, in sputum cytology negative cases. CONCLUSIONS: EGFR mutations in primary lung adenocarcinoma can be detected with high sensitivity in sputum samples if sputum cytology is positive. BioMed Central 2021-03-23 /pmc/articles/PMC7988937/ /pubmed/33757469 http://dx.doi.org/10.1186/s12890-021-01468-9 Text en © The Author(s) 2021 Open AccessThis 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/. The Creative Commons Public Domain Dedication waiver (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.
spellingShingle Article
Isaka, Tetsuya
Yokose, Tomoyuki
Ito, Hiroyuki
Nakayama, Haruhiko
Miyagi, Yohei
Saito, Haruhiro
Masuda, Munetaka
Detection of EGFR mutation of pulmonary adenocarcinoma in sputum using droplet digital PCR
title Detection of EGFR mutation of pulmonary adenocarcinoma in sputum using droplet digital PCR
title_full Detection of EGFR mutation of pulmonary adenocarcinoma in sputum using droplet digital PCR
title_fullStr Detection of EGFR mutation of pulmonary adenocarcinoma in sputum using droplet digital PCR
title_full_unstemmed Detection of EGFR mutation of pulmonary adenocarcinoma in sputum using droplet digital PCR
title_short Detection of EGFR mutation of pulmonary adenocarcinoma in sputum using droplet digital PCR
title_sort detection of egfr mutation of pulmonary adenocarcinoma in sputum using droplet digital pcr
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7988937/
https://www.ncbi.nlm.nih.gov/pubmed/33757469
http://dx.doi.org/10.1186/s12890-021-01468-9
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