Evaluation of ctDNA-based ESR1 testing in breast cancer: results from the first external quality assessment scheme in China

Expert Review of Molecular Diagnostics, Journal Year: 2025, Volume and Issue: unknown

Published: April 25, 2025

Circulating tumor DNA (ctDNA) testing of plasma for ESR1 somatic variants is essential guiding treatment decisions in hormone receptor-positive (HR + ) and HER2-negative (HER2-) advanced or metastatic breast cancer (MBC) patients who have progressed on frontline therapy. To ensure optimal, uniform, reliable across China, an pilot external quality assessment (EQA) scheme was established. Aliquots five artificial reference samples containing mutations at varying allelic frequencies were distributed to 37 laboratories reporting according routine procedures. The genotyping accuracy clinical evaluated against standardized criteria, feedback provided the participants. overall error rate EQA 6.29%, with 91.4% correctly identifying mutational status all samples. A variety extraction methods analytical techniques employed. However, reports often failed address risk that may not been tested, limitations methodologies used by participants insufficiently discussed. variability standards underscores importance educational guidance provision high-quality services.

Language: Английский

Diagnostic utility of ESR1 mutation detection in liquid biopsy of metastatic breast cancer patients

Virchows Archiv, Journal Year: 2024, Volume and Issue: unknown

Published: Oct. 11, 2024

Abstract Molecular analysis of circulating cell-free DNA (cfDNA) extracted from peripheral blood plasma samples metastatic breast cancer (BC) patients is rising interest to find optimal therapeutic strategies. Detection emerging resistance mutations against endocrine therapy possible with this approach. Here we present the applicability a laboratory-developed NGS assay in molecular pathology routine diagnostic, covering four genes ( ESR1 , PIK3CA ERBB2 ) and prognostic TP53 consequences BC. We analyzed 162 liquid biopsy 25 corresponding metastases BC patients. In biopsies, detected 42 cases (25.9%) six (3.7%), arguing for change fulvestrant, elacestrant, or neratinib. Furthermore, 17 had detectable mutations, associated therapy. conclude that testing noninvasive, sensitive, helpful method optimize decisions

Language: Английский

Liquid biopsy-based technologies: a promising tool for biomarker identification in her2-low breast cancer patients for improved therapeutic outcomes

Journal of Cancer Metastasis and Treatment, Journal Year: 2024, Volume and Issue: unknown

Published: Oct. 30, 2024

The molecular classification of breast cancer plays a pivotal role in developing personalized treatment strategies, with the aim improving therapeutic outcomes. Despite significant advancements, current diagnostic workflows are hindered by several challenges, including pre-analytical variability, interpretive ambiguity, and inconsistencies threshold definitions, particularly cases involving human epidermal growth factor receptor 2 (HER2)-low cancer. In this context, liquid biopsy technologies have emerged as promising tools for refining diagnostics. Techniques such circulating tumor DNA cell analysis provide non-invasive approach to assessing tumor-associated biomarkers. These methodologies advantageous analyzing low-abundance materials, formalin-fixed paraffin-embedded samples biopsies, thus enhancing precision informing more targeted decisions patients. This review aims explore potential addressing limitations practices, specific focus on its application HER2-low Furthermore, it advocates transition toward high-throughput RNA-based screening quantification, which may address critical unmet clinical needs.

Language: Английский