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EGFR mutation testing on plasma and urine samples: A pilot study evaluating the value of liquid biopsy in lung cancer diagnosis and management.
EGFR mutation testing on plasma and urine samples: A pilot study evaluating the value of liquid biopsy in lung cancer diagnosis and management.
- Source :
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Current problems in cancer [Curr Probl Cancer] 2021 Dec; Vol. 45 (6), pp. 100722. Date of Electronic Publication: 2021 Mar 03. - Publication Year :
- 2021
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Abstract
- Background: Cell free DNA (cfDNA) shed by cancer cells into blood and body fluids is a potential substrate for molecular testing. While plasma is approved for EGFR mutation testing in certain clinical settings, mutation testing on urine is not well explored in lung cancer. In this study, we assess the feasibility and diagnostic accuracy of EGFR mutation analysis on plasma and urine samples.<br />Methods: Matched plasma and urine were collected prospectively from TKI-naïve lung adenocarcinoma (ADCA) patients (Group A) with available tumor tissue. Only plasma was collected from TKI-treated, known EGFR mutant ADCA patients developing TKI resistance (Group B). qPCR (tumor tissue) or digital droplet-PCR (urine/plasma) was performed for exon 19 deletions, exon 21 L858R and exon 20 T790M.<br />Results: Eighty-one patients (60 Group A, 21 Group B) were included. In Group A, EGFR mutations were detected in tissue in 34/60 (57%) patients. Mutations were detected in matched plasma in 24 (24/34, 70.5% sensitivity), and in matched urine in 15 (15/25, 60% sensitivity) of the 34 EGFR mutant cases, with no false positives (100% positive predictive value). Plasma and urine mutation results showed moderate agreement (70%) with a combined sensitivity of 88% (22/25). In Group B, new T790M mutations were detected in plasma in 61% (13/21) patients.<br />Conclusion: Liquid biopsies show moderate sensitivity (plasma > urine) with 100% positive predictive rates for EGFR mutations. Testing of more than one type of liquid biopsy sample increases sensitivity. In TKI-resistant settings, liquid biopsies can obviate need for invasive biopsies in >60% patients.<br /> (Copyright © 2021. Published by Elsevier Inc.)
- Subjects :
- Adult
Aged
Female
Humans
India
Male
Middle Aged
Mutation
Pilot Projects
Prospective Studies
Sensitivity and Specificity
Adenocarcinoma of Lung blood
Adenocarcinoma of Lung genetics
Adenocarcinoma of Lung pathology
Adenocarcinoma of Lung urine
Biomarkers, Tumor blood
Biomarkers, Tumor genetics
Biomarkers, Tumor urine
Genes, erbB-1 genetics
Liquid Biopsy methods
Liquid Biopsy standards
Lung Neoplasms blood
Lung Neoplasms genetics
Lung Neoplasms pathology
Lung Neoplasms urine
Subjects
Details
- Language :
- English
- ISSN :
- 1535-6345
- Volume :
- 45
- Issue :
- 6
- Database :
- MEDLINE
- Journal :
- Current problems in cancer
- Publication Type :
- Academic Journal
- Accession number :
- 33712318
- Full Text :
- https://doi.org/10.1016/j.currproblcancer.2021.100722