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Review
. 2023 Aug 22:13:1221773.
doi: 10.3389/fonc.2023.1221773. eCollection 2023.

Validation of liquid biopsy for ESR1-mutation analysis in hormone-sensitive breast cancer: a pooled meta-analysis

Omar Najim  1   2 , Konstantinos Papadimitriou  1   2   3 , Glenn Broeckx  1   2   4 , Manon Huizing  2   5 , Wiebren Tjalma  1   2   6
Affiliations
Review

Validation of liquid biopsy for ESR1-mutation analysis in hormone-sensitive breast cancer: a pooled meta-analysis

Omar Najim et al. Front Oncol. .

Abstract

Several retrospective and prospective studies have shown that genomic alterations in Estrogen-receptor one (ESR1) can be characterized not only in tissue samples but also by sequencing circulating tumor DNA (ctDNA) in liquid biopsy. Therefore, liquid biopsy is a potential noninvasive surrogate for tissue biopsy. This meta-analysis was designed to compare the prevalence of ESR 1 mutation detected with liquid biopsy and tissue biopsy. A pooled meta-analysis of studies published between 1 January 2007 and 1 March 2021 was conducted regarding the methodologies used for ESR1 mutation analysis. Liquid biopsy is a valid, inexpensive, and attractive noninvasive alternative to tumor biopsies for the identification of ESR1 mutations. Liquid biopsy for ESR 1 analysis would facilitate regular testing, allowing monitoring of the sensitivity to ET and guiding treatment strategies.

Keywords: ESR1; digital PCR; liquid biopsy; metastasized breast cancer; next-generation sequencing.

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Conflict of interest statement

The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.

Figures

Figure 1
Figure 1
PRISMA flow diagram and the process of data selection. Selection of studies was performed using predefined data fields, taking study quality indicators into consideration. Eligibility criteria included terms with ‘ESR1’, ‘ESR mutation’ and ‘liquid biopsy’ or ‘tissue sample’, and/or ‘next generation sequencing’ and/or ‘ddPCR’ in the abstract or title by using the endnote library search option.
Figure 2
Figure 2
Forest plot of the overall incidence rate of ESR1 mutation. The proportion of ESR1 mutation per study is displayed with a grey box, with the 95%-CI visualized by horizontal lines. The overall frequency of ESR1 mutations was 0.23 (95%-CI: 0.18 0.28), as indicated by the black diamond at the bottom of the forest plot.
Figure 3
Figure 3
Forest plot of the comparison of ESR1 mutation in tissue versus plasma samples. Grey boxes indicate the proportion of ESR1 mutations in each study, with a horizontal line representing the 95% CI. Overall proportion and 95% CI in tissue and plasma subgroup is displayed with a black diamond. We found no significant difference in ESR1 mutation incidence between plasma and tissue samples (P=0.34).
Figure 4
Figure 4
Forest plot of the comparison of the proportion of ESR1 mutation using NGS versus ddPCR techniques. Grey boxes indicate the proportion of ESR1 mutations in each study, with a horizontal line representing the 95% CI. Overall proportion and 95% CI in NGS and ddPCR subgroup is displayed with a black diamond. We found no significant difference in ESR1 mutation incidence between the two techniques (P=0.15).
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