Comparison and Validation of Rapid Molecular Testing Methods for Theranostic Epidermal Growth Factor Receptor Alterations in Lung Cancer: Idylla versus Digital Droplet PCR

Targeting EGFR alterations, particularly the L858R (Exon 21) mutation and Exon 19 deletion (del19), has significantly improved the survival of lung cancer patients. From now on, the issue is to shorten the time to treatment. Here, we challenge two well-known rapid strategies for <i>EGFR</i&...

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Main Authors: Camille Léonce, Clémence Guerriau, Lara Chalabreysse, Michaël Duruisseaux, Sébastien Couraud, Marie Brevet, Pierre-Paul Bringuier, Delphine Aude Poncet
Format: Article
Language:English
Published: MDPI AG 2023-10-01
Series:International Journal of Molecular Sciences
Subjects:
Online Access:https://www.mdpi.com/1422-0067/24/21/15684
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author Camille Léonce
Clémence Guerriau
Lara Chalabreysse
Michaël Duruisseaux
Sébastien Couraud
Marie Brevet
Pierre-Paul Bringuier
Delphine Aude Poncet
author_facet Camille Léonce
Clémence Guerriau
Lara Chalabreysse
Michaël Duruisseaux
Sébastien Couraud
Marie Brevet
Pierre-Paul Bringuier
Delphine Aude Poncet
author_sort Camille Léonce
collection DOAJ
description Targeting EGFR alterations, particularly the L858R (Exon 21) mutation and Exon 19 deletion (del19), has significantly improved the survival of lung cancer patients. From now on, the issue is to shorten the time to treatment. Here, we challenge two well-known rapid strategies for <i>EGFR</i> testing: the cartridge-based platform Idylla™ (Biocartis) and a digital droplet PCR (ddPCR) approach (ID_Solution). To thoroughly investigate each testing performance, we selected a highly comprehensive cohort of 39 unique del19 (in comparison, the cbioportal contains 40 unique del19), and 9 samples bearing unique polymorphisms in exon 19. Additional L858R (N = 24), L861Q (N = 1), del19 (N = 63), and WT samples (N = 34) were used to determine clear technical and biological cutoffs. A total of 122 DNA samples extracted from formaldehyde-fixed samples was used as input. No false positive results were reported for either of the technologies, as long as careful droplet selection (ddPCR) was ensured for two polymorphisms. ddPCR demonstrated higher sensitivity in detecting unique del19 (92.3%, 36/39) compared to Idylla (67.7%, 21/31). However, considering the prevalence of del19 and L858R in the lung cancer population, the adjusted theranostic values were similar (96.51% and 95.26%, respectively). ddPCR performs better for small specimens and low tumoral content, but in other situations, Idylla is an alternative (especially if a molecular platform is absent).
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spelling doaj.art-1c9d69fa6691491e8c5e773e262c9b7a2023-11-10T15:04:53ZengMDPI AGInternational Journal of Molecular Sciences1661-65961422-00672023-10-0124211568410.3390/ijms242115684Comparison and Validation of Rapid Molecular Testing Methods for Theranostic Epidermal Growth Factor Receptor Alterations in Lung Cancer: Idylla versus Digital Droplet PCRCamille Léonce0Clémence Guerriau1Lara Chalabreysse2Michaël Duruisseaux3Sébastien Couraud4Marie Brevet5Pierre-Paul Bringuier6Delphine Aude Poncet7Department of Pathology, Tumor Molecular Biology Unit, Groupement Hospitalier Est, Hospices Civils de Lyon, 69394 Bron, FranceDepartment of Pathology, Tumor Molecular Biology Unit, Groupement Hospitalier Est, Hospices Civils de Lyon, 69394 Bron, FranceDepartment of Pathology, Tumor Molecular Biology Unit, Groupement Hospitalier Est, Hospices Civils de Lyon, 69394 Bron, FranceUniversity of Lyon, Université Claude Bernard Lyon 1, 69100 Lyon, FranceUniversity of Lyon, Université Claude Bernard Lyon 1, 69100 Lyon, FranceDepartment of Pathology, Tumor Molecular Biology Unit, Groupement Hospitalier Est, Hospices Civils de Lyon, 69394 Bron, FranceDepartment of Pathology, Tumor Molecular Biology Unit, Groupement Hospitalier Est, Hospices Civils de Lyon, 69394 Bron, FranceDepartment of Pathology, Tumor Molecular Biology Unit, Groupement Hospitalier Est, Hospices Civils de Lyon, 69394 Bron, FranceTargeting EGFR alterations, particularly the L858R (Exon 21) mutation and Exon 19 deletion (del19), has significantly improved the survival of lung cancer patients. From now on, the issue is to shorten the time to treatment. Here, we challenge two well-known rapid strategies for <i>EGFR</i> testing: the cartridge-based platform Idylla™ (Biocartis) and a digital droplet PCR (ddPCR) approach (ID_Solution). To thoroughly investigate each testing performance, we selected a highly comprehensive cohort of 39 unique del19 (in comparison, the cbioportal contains 40 unique del19), and 9 samples bearing unique polymorphisms in exon 19. Additional L858R (N = 24), L861Q (N = 1), del19 (N = 63), and WT samples (N = 34) were used to determine clear technical and biological cutoffs. A total of 122 DNA samples extracted from formaldehyde-fixed samples was used as input. No false positive results were reported for either of the technologies, as long as careful droplet selection (ddPCR) was ensured for two polymorphisms. ddPCR demonstrated higher sensitivity in detecting unique del19 (92.3%, 36/39) compared to Idylla (67.7%, 21/31). However, considering the prevalence of del19 and L858R in the lung cancer population, the adjusted theranostic values were similar (96.51% and 95.26%, respectively). ddPCR performs better for small specimens and low tumoral content, but in other situations, Idylla is an alternative (especially if a molecular platform is absent).https://www.mdpi.com/1422-0067/24/21/15684epidermal growth factor receptordiagnosisIdylladdPCRmethod validationlung cancer
spellingShingle Camille Léonce
Clémence Guerriau
Lara Chalabreysse
Michaël Duruisseaux
Sébastien Couraud
Marie Brevet
Pierre-Paul Bringuier
Delphine Aude Poncet
Comparison and Validation of Rapid Molecular Testing Methods for Theranostic Epidermal Growth Factor Receptor Alterations in Lung Cancer: Idylla versus Digital Droplet PCR
International Journal of Molecular Sciences
epidermal growth factor receptor
diagnosis
Idylla
ddPCR
method validation
lung cancer
title Comparison and Validation of Rapid Molecular Testing Methods for Theranostic Epidermal Growth Factor Receptor Alterations in Lung Cancer: Idylla versus Digital Droplet PCR
title_full Comparison and Validation of Rapid Molecular Testing Methods for Theranostic Epidermal Growth Factor Receptor Alterations in Lung Cancer: Idylla versus Digital Droplet PCR
title_fullStr Comparison and Validation of Rapid Molecular Testing Methods for Theranostic Epidermal Growth Factor Receptor Alterations in Lung Cancer: Idylla versus Digital Droplet PCR
title_full_unstemmed Comparison and Validation of Rapid Molecular Testing Methods for Theranostic Epidermal Growth Factor Receptor Alterations in Lung Cancer: Idylla versus Digital Droplet PCR
title_short Comparison and Validation of Rapid Molecular Testing Methods for Theranostic Epidermal Growth Factor Receptor Alterations in Lung Cancer: Idylla versus Digital Droplet PCR
title_sort comparison and validation of rapid molecular testing methods for theranostic epidermal growth factor receptor alterations in lung cancer idylla versus digital droplet pcr
topic epidermal growth factor receptor
diagnosis
Idylla
ddPCR
method validation
lung cancer
url https://www.mdpi.com/1422-0067/24/21/15684
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