PIK3CA mutation analysis in circulating tumor cells of patients with hormone receptor positive metastatic breast cancer.

Autor:	Marino E; Clinic Unit of Oncogenomics, IEO, European Institute of Oncology, IRCCS, Milan, Italy.; Laboratory of Medical Genetics, Istituto Europeo di Oncologia, IRCCS, Milan, Italy., Mauro C; Laboratory Medicine Division, IEO, European Institute of Oncology, IRCCS, Milan, Italy., Belloni E; Department of Experimental Oncology, Istituto Europeo di Oncogia, IRCCS, Milan, Italy., Picozzi M; Laboratory Medicine Division, IEO, European Institute of Oncology, IRCCS, Milan, Italy., Favalli V; 4Basessrl, Pavia, Italy., Cassatella MC; Laboratory Medicine Division, IEO, European Institute of Oncology, IRCCS, Milan, Italy., Zorzino L; Laboratory Medicine Division, IEO, European Institute of Oncology, IRCCS, Milan, Italy., Giacò L; Bioinformatics Core Facility, Gemelli Science and Technology Park (G-STeP), Fondazione Policlinico Universitario A. Gemelli IRCCS, 00168, Roma, Italy., Pelicci PG; Department of Experimental Oncology, Istituto Europeo di Oncogia, IRCCS, Milan, Italy.; Department of Oncology and Hemato-Oncology, University of Milan, Italy., Barberis M; Clinic Unit of Oncogenomics, IEO, European Institute of Oncology, IRCCS, Milan, Italy., Sandri MT; Laboratorio Bianalisi, Carate Brianza, MB, Italy., Bernard L; Clinic Unit of Oncogenomics, IEO, European Institute of Oncology, IRCCS, Milan, Italy.
Jazyk:	angličtina
Zdroj:	Biochemistry and biophysics reports [Biochem Biophys Rep] 2024 Aug 26; Vol. 39, pp. 101805. Date of Electronic Publication: 2024 Aug 26 (Print Publication: 2024).
DOI:	10.1016/j.bbrep.2024.101805
Abstrakt:	In metastatic breast cancer (MBC), blood is a source of circulating tumor cells (CTCs). CTCs may serve as a ''real-time liquid biopsy" as they represent metastatic tumor genetics better than primary tumor. PIK3CA is one of the most important oncogenes in treatment-unresponsive breast cancers. The aim of this study was to detect PIK3CA mutations and hereditary cancer variants in CTCs from MBC patients. Forty-seven blood samples were obtained from 20 MBC patients from at least 1/3 consecutive time points. CTCs were quantified using the CellSearch system and isolated from 11/20 patients with ≥5/7.5 ml CTCs (14/47 blood samples) using the DEPArray system. DNA was extracted and amplified to perform Sanger sequencing on PIK3CA gene. Sequencing revealed a pathogenic PIK3CA mutation in 2/11 (18 %) cases. Subsequently, we evaluated a 26-target hereditary gene panel by Next Generation Sequencing and identified a concomitant pathogenic mutation in the TP53 gene in a patient with a PIK3CA mutation. No pathogenic germline variants were found. Our data support the conclusion that CTCs analysis may be used to identify mutations in patients to identify those more likely to metastasize. Competing Interests: The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper. (© 2024 The Authors. Published by Elsevier B.V.)
Databáze:	MEDLINE
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