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

Omar Najim; Konstantinos Papadimitriou; Glenn Broeckx; Manon Huizing; Wiebren Tjalma

doi:10.3389/fonc.2023.1221773

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

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

Authors

Omar Najim^{1

2}, Konstantinos Papadimitriou^{1

2

3}, Glenn Broeckx^{1

2

4}, Manon Huizing^{2

5}, Wiebren Tjalma^{1

2

6}

Affiliations

¹ Multidisciplinary Breast Clinic Antwerp University Hospital, University of Antwerp, Edegem, Belgium.
² Faculty of Medicine, University of Antwerp, Edegem, Belgium.
³ Department of Medical Oncology, Antwerp University Hospital, Edegem, Belgium.
⁴ Department of Pathology, Antwerp University Hospital, Edegem, Belgium.
⁵ Biobank, Antwerp University Hospital, Edegem, Belgium.
⁶ Unit of Gynecologic Oncology, Department of Obstetrics and Gynecology, Antwerp University Hospital, University of Antwerp, Edegem, Belgium.

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.

Publication types

Review

Grants and funding

The Ladies Circle Dendermonde, located in Sint-Gillislaan 47,9200 Dendermonde, Belgium, funded this study.