Cell-Free DNA Analysis of Epithelial Growth Factor Receptor Mutations in Lung Adenocarcinoma Patients by Droplet Digital PCR
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ID | 47737 |
本文ファイル | |
著者 |
Faisal, Hana Khairina Putri
Hirano, Shoko
Yamaoka, Emi
Fukazawa, Takahiro
Kohno, Nobuoki
大学院医歯薬保健学研究院(医)
Ueda, Yuka
病院周産母子センター
Sueda, Taijiro
大学院医歯薬保健学研究科(医)
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キーワード | Cell-free DNA
Droplet digital PCR
Lung adenocarcinoma
EGF
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抄録(英) | Cell-free DNA (cfDNA) analysis may provide a non-invasive diagnostic approach for lung adenocarcinoma patients. Recently, droplet digital PCR (ddPCR) has been developed as a highly sensitive detection method for a low mutant allele percentage. The ddPCR detection limit for epithelial growth factor receptor (EGFR) mutations was evaluated using cell lines, NCI-H1975 for EGFR L858R point mutation and PC-9 for EGFR E746-A750del. Subsequently, detection of EGFR mutations by ddPCR was performed in tumor DNA (tDNA) and cfDNA samples of 19 lung adenocarcinoma patients whose tumor biopsies were already evaluated for EGFR mutations by clamp PCR (13 of L858R, 3 of E746-750del, and 3 of EGFR negative). In 12 cases, immunohistochemical analysis was performed to quantify the number of EGFR L858R-positive cells rate. EGFR point mutation or deletion were detected in 16 tumor DNA samples. In the measurable cfDNA samples, the rate of detection by ddPCR in cfDNA was 61.5% (8/13) for L858R and 100% (3/3) for E746-A750del. A relative correlation was found between the allele fraction (AF) of tDNA and the number of EGFR L858R-positive cells rate. No correlation was found between the AF of tDNA and AF of cfDNA. In our study, cfDNA mutation detection was not associated with clinicopathological features, but cases with high AF of cfDNA did have metastatic lesions. Our study shows that ddPCR enables cfDNA analysis for EGFR L858R and E746-A750del, with a high detection rate. Therefore, cfDNA analysis using ddPCR may complement to tumor biopsy and is beneficial for precision medicine in lung adenocarcinoma patients.
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掲載誌名 |
Hiroshima Journal of Medical Sciences
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巻 | 68巻
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号 | 1号
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開始ページ | 1
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終了ページ | 6
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出版年月日 | 2019-03
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出版者 | Hiroshima University Medical Press
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ISSN | 0018-2052
2433-7668
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NCID | |
出版者DOI | |
言語 |
英語
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NII資源タイプ |
紀要論文
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広大資料タイプ |
学内刊行物(紀要等)
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DCMIタイプ | text
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フォーマット | application/pdf
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著者版フラグ | publisher
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権利情報 | Copyright (c) 2019 Hiroshima University Medical Press
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関連情報URL | |
部局名 |
医歯薬保健学研究科
病院
自然科学研究支援開発センター
原爆放射線医科学研究所
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他の一覧 |