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Multiplex detection of ten ESR1 mutations and AKT1 E17K in breast cancer using digital PCR
Stavroula Smilkou1, Aliki Ntzifa1, Dimitra Stergiopoulou1
1Analysis of Circulating Tumor Cells, Laboratory of Analytical Chemistry, Department of Chemistry, University of Athens, 15771, Athens, Greece.
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 & 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.
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