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Comparison and Validation of Rapid Molecular Testing Methods for Theranostic Epidermal Growth Factor Receptor
Camille Léonce1,2,3, Clémence Guerriau1,4, Lara Chalabreysse1,2
1Department of Pathology, Tumor Molecular Biology Unit, Groupement Hospitalier Est, Hospices Civils de Lyon, 69394 Bron, France.
Abstract:
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 EGFR 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).
Insights
Digital droplet PCR (ddPCR) shows higher sensitivity than the Idylla™ platform for detecting EGFR Exon 19 deletions in lung cancer. Both methods offer similar theranostic values for rapid EGFR testing, crucial for timely lung cancer treatment.
Area of Science:
- Oncology
- Molecular Diagnostics
- Genetics
Background:
- Epidermal growth factor receptor (EGFR) alterations, including Exon 19 deletion (del19) and L858R mutation, are key targets in lung cancer therapy.
- Accelerating the time to treatment for lung cancer patients with EGFR alterations is a critical clinical challenge.
Purpose of the Study:
- To compare the diagnostic performance of two rapid EGFR testing strategies: the cartridge-based Idylla™ platform and digital droplet PCR (ddPCR).
- To evaluate the sensitivity and theranostic utility of these platforms for detecting specific EGFR mutations (del19, L858R) in lung cancer.
Main Methods:
- Utilized a comprehensive cohort of 122 DNA samples from formaldehyde-fixed specimens, including unique del19, L858R, L861Q, and wild-type (WT) EGFR variants.
- Assessed the sensitivity and specificity of Idylla™ and ddPCR for detecting EGFR alterations, with careful quality control for ddPCR.
- Determined technical and biological cutoffs using a diverse sample set.
Main Results:
- No false positive results were observed for either technology with appropriate quality control.
- ddPCR exhibited higher sensitivity in detecting unique del19 mutations (92.3%) compared to Idylla™ (67.7%).
- Despite sensitivity differences, adjusted theranostic values for del19 and L858R were comparable (96.51% and 95.26%), indicating similar clinical utility.
Conclusions:
- ddPCR is more sensitive for detecting EGFR del19, particularly in small specimens or samples with low tumor content.
- Idylla™ serves as a viable alternative for rapid EGFR testing, especially in settings lacking advanced molecular platforms.
- Both technologies contribute to shortening the time to treatment for lung cancer patients with actionable EGFR alterations.
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