Circulating tumour DNA testing in metastatic breast cancer: Integration with tissue testing.


Journal

Cytopathology : official journal of the British Society for Clinical Cytology
ISSN: 1365-2303
Titre abrégé: Cytopathology
Pays: England
ID NLM: 9010345

Informations de publication

Date de publication:
11 2023
Historique:
revised: 26 07 2023
received: 16 06 2023
accepted: 14 08 2023
medline: 10 10 2023
pubmed: 29 8 2023
entrez: 28 8 2023
Statut: ppublish

Résumé

Breast cancer biomarker profiling predominantly relies on tissue testing (surgical and/or biopsy samples). However, the field of liquid biopsy, particularly the analysis of circulating tumour DNA (ctDNA), has witnessed remarkable progress and continues to evolve rapidly. The incorporation of ctDNA-based testing into clinical practice is creating new opportunities for patients with metastatic breast cancer (MBC). ctDNA offers advantages over conventional tissue analyses, as it reflects tumour heterogeneity and enables multiple serial biopsies in a minimally invasive manner. Thus, it serves as a valuable complement to standard tumour tissues and, in certain instances, may even present a potential alternative approach. In the context of MBC, ctDNA testing proves highly informative in the detection of disease progression, monitoring treatment response, assessing actionable biomarkers, and identifying mechanisms of resistance. Nevertheless, ctDNA does exhibit inherent limitations, including its generally low abundance, necessitating timely blood samplings and rigorous management of the pre-analytical phase. The development of highly sensitive assays and robust bioinformatic tools has paved the way for reliable ctDNA analyses. The time has now come to establish how ctDNA and tissue analyses can be effectively integrated into the diagnostic workflow of MBC to provide patients with the most comprehensive and accurate profiling. In this manuscript, we comprehensively analyse the current methodologies employed in ctDNA analysis and explore the potential benefits arising from the integration of tissue and ctDNA testing for patients diagnosed with MBC.

Identifiants

pubmed: 37640801
doi: 10.1111/cyt.13295
doi:

Substances chimiques

Circulating Tumor DNA 0
Biomarkers, Tumor 0

Types de publication

Journal Article Review

Langues

eng

Sous-ensembles de citation

IM

Pagination

519-529

Informations de copyright

© 2023 The Authors. Cytopathology published by John Wiley & Sons Ltd.

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Auteurs

Alberto Ranghiero (A)

Division of Pathology, IEO, European Institute of Oncology IRCCS, Milan, Italy.

Chiara Frascarelli (C)

Division of Pathology, IEO, European Institute of Oncology IRCCS, Milan, Italy.
Department of Oncology and Hemato-Oncology, University of Milan, Milan, Italy.

Giulia Cursano (G)

Division of Pathology, IEO, European Institute of Oncology IRCCS, Milan, Italy.

Carlo Pescia (C)

Division of Pathology, IEO, European Institute of Oncology IRCCS, Milan, Italy.
School of Pathology, University of Milan, Milan, Italy.

Mariia Ivanova (M)

Division of Pathology, IEO, European Institute of Oncology IRCCS, Milan, Italy.

Davide Vacirca (D)

Division of Pathology, IEO, European Institute of Oncology IRCCS, Milan, Italy.

Alessandra Rappa (A)

Division of Pathology, IEO, European Institute of Oncology IRCCS, Milan, Italy.

Sergio Vincenzo Taormina (SV)

Division of Pathology, IEO, European Institute of Oncology IRCCS, Milan, Italy.

Massimo Barberis (M)

Division of Pathology, IEO, European Institute of Oncology IRCCS, Milan, Italy.

Nicola Fusco (N)

Division of Pathology, IEO, European Institute of Oncology IRCCS, Milan, Italy.
Department of Oncology and Hemato-Oncology, University of Milan, Milan, Italy.

Elena Guerini Rocco (EG)

Division of Pathology, IEO, European Institute of Oncology IRCCS, Milan, Italy.
Department of Oncology and Hemato-Oncology, University of Milan, Milan, Italy.

Konstantinos Venetis (K)

Division of Pathology, IEO, European Institute of Oncology IRCCS, Milan, Italy.

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