Clinical significance of gene mutation in ctDNA analysis for hormone receptor-positive metastatic breast cancer.
Breast Cancer Res Treat
; 180(2): 331-341, 2020 Apr.
Article
em En
| MEDLINE
| ID: mdl-32020432
PURPOSE: In this study, we aim to investigate the mutation spectrum of circulating tumor DNA among hormone receptor-positive metastatic breast cancer (HR-MBC) patients using ultradeep targeted resequencing. In addition, we also evaluate the correlation of mutations detected from this study with progression-free survival (PFS). MATERIALS AND METHODS: A total of 56 HR-MBC patients were enrolled. Cell-free DNA (cfDNA) was extracted from plasma and sequenced by using Oncomine Breast cancer cfDNA assay in this study. RESULT: Concentration of cfDNA is correlated with a number of metastatic organs and serum CEA levels (Spearman's rank correlation p = 0.0018, p = 0.0015 respectively). Cases with high cfDNA levels (≥ 2.6 ng/µl of plasma) showed worse progression-free survival (PFS) and overall survival compared with cases with low cfDNA levels (p = 0.043 and 0.046, respectively). Among these patients, 29 patients (51.7%) have TP53 mutations, 12 patients (30.3%) have PIK3CA mutations, and 9 patients (16.0%) have ESR1 mutations. Acquisition of ESR1 mutation increased according to the lines of hormone therapy. In addition, patients with ESR1 mutation showed shorter PFS than those without mutation (log-rank p = 0.047). In the multivariate analysis, ESR1 mutation and cfDNA concentration were significant for PFS (p = 0.027 and 0.006, respectively). In conclusion, assessment of ESR1 mutation and cfDNA concentration could be useful in predicting prognosis for HR-MBCs.
Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Neoplasias da Mama
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Biomarcadores Tumorais
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Proteína Supressora de Tumor p53
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Receptor alfa de Estrogênio
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Classe I de Fosfatidilinositol 3-Quinases
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DNA Tumoral Circulante
Tipo de estudo:
Prognostic_studies
Limite:
Aged
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Aged80
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Female
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Humans
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Middle aged
Idioma:
En
Revista:
Breast Cancer Res Treat
Ano de publicação:
2020
Tipo de documento:
Article
País de afiliação:
Japão