Multiplex detection of ten ESR1 mutations and AKT1 E17K in breast cancer using digital PCR

Multiplex detection of ten ESR1 mutations and AKT1 E17K in breast cancer using digital PCR

Introduction: ESR1 mutations are now established as a key mechanism of resistance to endocrine therapy in estrogen-receptor–positive breast cancer (ER​+ ​breast cancer) and their sensitive and specific detection in plasma-cell free DNA (plasma-cfDNA) is crucial to monitor during patient treatment. I...

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Bibliographic Details
Main Authors: Stavroula Smilkou, Aliki Ntzifa, Dimitra Stergiopoulou, Vasilis Georgoulias, Evi Lianidou
Format: Article
Language:English
Published: Elsevier 2024-09-01
Series:The Journal of Liquid Biopsy
Subjects:
Estrogen receptor
Breast cancer
ESR1 mutations
Crystal digital PCR
Liquid biopsy
Plasma-cfDNA
Online Access:http://www.sciencedirect.com/science/article/pii/S2950195424000195
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Summary:Introduction: ESR1 mutations are now established as a key mechanism of resistance to endocrine therapy in estrogen-receptor–positive breast cancer (ER​+ ​breast cancer) and their sensitive and specific detection in plasma-cell free DNA (plasma-cfDNA) is crucial to monitor during patient treatment. In the present proof-of-principle study, we evaluated the performance of a novel multiplex assay (12plex) for the detection of ten ESR1 mutations and AKT1 E17K in plasma-cfDNA based on Crystal Digital PCR® (Stilla Technologies, France). Materials &amp; methods: We analyzed 35 plasma-cfDNA samples from ER+ ​breast cancer patients and 10 samples from healthy donors and further compared the results with our previously reported ESR1 NAPA assay for D538G, Y537S, Y537C and Y537 N ESR1 mutations. Results: Using this novel 12plex ESR1-AKT 6-color Crystal Digital PCR® assay we detected both AKT1 E17K and ESR1 D538G mutations in 5/35 (14.3%) plasma-cfDNA samples. ESR1 D538G was detected in 4/35 (11.4%) of these plasma-cfDNA samples using the ESR1 NAPA assay. Direct comparison between Crystal Digital PCR™ and the ESR1 NAPA assay revealed a high concordance (97.1%, k = 0.871, p < 0.001) for the detection of D538G mutation. Conclusion: The Stilla 12plex ESR1-AKT 6-color Crystal Digital PCR® assay is multiplex, highly sensitive and robust and can be used in liquid biopsy.
ISSN:2950-1954

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