Identification, clinical-pathological characteristics and treatment outcomes of patients with metastatic breast cancer and somatic human epidermal growth factor receptor 2 (ERBB2) mutations.

摘要: The human epidermal growth factor receptor 2 (ERBB2) may harbour somatic mutations that drive breast tumorigenesis. Here, we study prevalence, tumour characteristics and disease outcome of ERBB2 in a large unselected cohort metastatic cancer (mBC) patients. We retrospectively included all mBC patients with sufficient primary tumour, diagnosed between 2000 2015 (n = 775). Genomic DNA was subjected to targeted-resequencing assay identify hotspot exon 8, 17, 19, 20, 21 ERBB2. studied demographics, characteristics, median distant disease-free survival (DDFS), using time-to-event analysis time progression (TTP) overall (OS) upon metastasis, Kaplan–Meier log-rank statistics assess differences ERBB2-mutation statuses. were observed 1.8% the samples (13/721). Patient independent mutations. Luminal ERBB2-mutated (ERBB2mut+) cases (n = 5) had shorter DDFS than ERBB2mut− (median 0.8 vs. > 4.0 years, p = 0.02). ER-positive ERBB2mut+ who received an aromatase inhibitor (AI) as first-line treatment (stage IV disease) worse TTP vs. (n = 3 156; 103 311 days, p = 0.04). OS for subtypes lower (n = 11 669; 1.1 2.3 years, p = 0.46). are rare whom developed no evidence found association specific types BC or patient although outcomes carriers might be worse. latter, however, needs validated larger populations.