Plasma-based analysis of ERBB2 mutational status by multiplex digital PCR in a large series of patients with metastatic breast cancer - Archive ouverte HAL
Article Dans Une Revue Molecular Oncology Année : 2024

Plasma-based analysis of ERBB2 mutational status by multiplex digital PCR in a large series of patients with metastatic breast cancer

Julien Corné
Connectez-vous pour contacter l'auteur
Fanny Le Du
Lucie Robert
  • Fonction : Auteur
  • PersonId : 1136216
Heloise Bourien
Christophe Perrin
Véronique Diéras
Thibault de La Motte Rouge
  • Fonction : Auteur
  • PersonId : 1099995

Résumé

Erb‐b2 receptor tyrosine kinase 2 (ERBB2)‐activating mutations are therapeutically actionable alterations found in various cancers, including metastatic breast cancer (MBC). We developed multiplex digital PCR assays to detect and quantify ERBB2 mutations in circulating tumor DNA from liquid biopsies. We studied the plasma from 272 patients with hormone‐receptor‐positive, human epidermal growth factor receptor 2‐negative (HR+/HER2−) MBC to detect 17 ERBB2 mutations using a screening assay. The assay was developed on the three‐color Crystal dPCR™ naica® platform with a two‐step strategy for precise mutation identification. We found that nine patients (3.3%) harbored at least one ERBB2 mutation. The mutation rate was higher in patients with lobular histology (5.9%) compared to invasive breast carcinoma of no special type (2.6%). A total of 12 mutations were found with the following frequencies: L755S (25.00%), V777L (25.00%), S310Y (16.67%), L869R (16.67%), S310F (8.33%), and D769H (8.33%). Matched tumor samples from six patients identified the same mutations with an 83% concordance rate. In summary, our highly sensitive multiplex digital PCR assays are well suited for plasma‐based monitoring of ERBB2 mutational status in patients with MBC.

Dates et versions

hal-04479583 , version 1 (27-02-2024)

Identifiants

Citer

Julien Corné, Véronique Quillien, Florence Godey, Mathilde Cherel, Agathe Cochet, et al.. Plasma-based analysis of ERBB2 mutational status by multiplex digital PCR in a large series of patients with metastatic breast cancer. Molecular Oncology, 2024, Molecular Oncology, ⟨10.1002/1878-0261.13592⟩. ⟨hal-04479583⟩
13 Consultations
0 Téléchargements

Altmetric

Partager

More