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Article Dans Une Revue Clinica Chimica Acta Année : 2023

Development of sensitive and robust multiplex digital PCR assays for the detection of ESR1 mutations in the plasma of metastatic breast cancer patients

Julien Corné
Céline Callens
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François-Clément Bidard
Emmanuelle Jeannot
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Lucie Robert
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Heloise Bourien
V Dieras
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Thibault de La Motte Rouge
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Résumé

BACKGROUND: Early detection of ESR1 mutations is a key element for better personalization of the management of patients with HR+/HER2- Metastatic Breast Cancer (MBC). Analysis of circulating tumor DNA from liquid biopsies is a particularly well-suited strategy for longitudinal monitoring of such patients. MATERIALS AND METHODS: Using the naica® three-color digital PCR platform, we developed a screening assay allowing the detection of 11 ESR1 mutations and designed a sequential strategy for precise mutation identification. We then applied this strategy in the analysis of plasma circulating cell-free DNA from 109 HR+/HER2- MBC patients and performed a double-blind comparison study on a subset of patients with the multiplex assay used at the Institut Curie (IC) for the PADA-1 study. RESULTS: Thirty-one patients (28.4%) harboured at least one ESR1 mutation, with the following frequencies: D538G (41.03%), Y537S (25.64%), E380Q (10.26%), Y537N (10.26%), "(536-540)" (7.69%), Y537C (2.56%), and L536R (2.56%). The presence of ESR1 mutation(s) was significantly associated with liver metastases (p = 0.0091). A very good agreement (91%) was observed with the IC assay. CONCLUSION: Our assays have proven to be robust and highly sensitive and are very well-suited for monitoring ESR1 mutations in the plasma of MBC patients.

Domaines

Cancer
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Dates et versions

hal-04089182 , version 1 (31-05-2023)

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Citer

Julien Corné, Véronique Quillien, Céline Callens, Pascal Portois, François-Clément Bidard, et al.. Development of sensitive and robust multiplex digital PCR assays for the detection of ESR1 mutations in the plasma of metastatic breast cancer patients. Clinica Chimica Acta, 2023, 545, pp.117366. ⟨10.1016/j.cca.2023.117366⟩. ⟨hal-04089182⟩
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