Limited Practical Utility of Liquid Biopsy in the Treated Patients with Advanced Breast Cancer

Recently, liquid biopsy has emerged as a tool to monitor oncologic disease progression and the effects of treatment. In this study we aimed to determine the clinical utility of liquid biopsy relative to conventional oncological post-treatment surveillance. Plasma cell-free (cf) DNA was collected fro...

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Bibliographic Details
Published in:Diagnostics (Basel) 2020-07, Vol.10 (8), p.523
Main Authors: Niwinska, Anna, Bałabas, Aneta, Kulecka, Maria, Kluska, Anna, Piątkowska, Magdalena, Paziewska, Agnieszka, Pyśniak, Kazimiera, Olszewski, Wojciech, Mikula, Michał, Ostrowski, Jerzy
Format: Article
Language:English
Subjects:
Apoptosis
Biopsy
Breast cancer
Cancer therapies
cf-DNA
Cloning
Deoxyribonucleic acid
DNA
Genes
Ion Torrent
Library collections
liquid biopsy
Mastectomy
Metastasis
Mutation
NGS sequencing
Patients
Plasma
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Summary:Recently, liquid biopsy has emerged as a tool to monitor oncologic disease progression and the effects of treatment. In this study we aimed to determine the clinical utility of liquid biopsy relative to conventional oncological post-treatment surveillance. Plasma cell-free (cf) DNA was collected from six healthy women and 37 patients with breast cancer (18 and 19 with stage III and IV tumors, respectively). CfDNA was assessed using the Oncomine Pan-Cancer Cell-Free Assay. In cfDNA samples from patients with BC, 1112 variants were identified, with only a few recurrent or hotspot mutations within specific regions of cancer genes. Of 65 potentially pathogenic variants detected in tumors, only 19 were also discovered in at least one blood sample. The allele frequencies of detected variants (VAFs) were 1% in only 8 of 25 (32%) patients with stage IV BC. Copy number variations (CNVs) spanning CDK4, MET, FGFR1, FGFR2, ERBB2, MYC, and CCND3 were found in 1 of 12 (8%) and 8 of 25 (32%) patients with stage III and IV tumors, respectively. In healthy controls and patients without BC progression after treatment, VAFs were 1% and/or CNV were detected in approximately 30%. Therefore, most patients with stage IV BC could not be distinguished from those with stage III disease following therapy, based on liquid biopsy results.
ISSN:2075-4418
2075-4418
DOI:10.3390/diagnostics10080523