Proficiency testing of PIK3CA mutations in HR+/HER2-breast cancer on liquid biopsy and tissue.

Autor: Vollbrecht C; Charité-Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, Humboldt-Universität zu Berlin and Berlin Institute of Health, Institute of Pathology, Berlin, Germany. claudia.vollbrecht@charite.de., Hoffmann I; Charité-Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, Humboldt-Universität zu Berlin and Berlin Institute of Health, Institute of Pathology, Berlin, Germany., Lehmann A; Charité-Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, Humboldt-Universität zu Berlin and Berlin Institute of Health, Institute of Pathology, Berlin, Germany., Merkelbach-Bruse S; Faculty of Medicine and University Hospital Cologne, Institute of Pathology, University of Cologne, Cologne, Germany., Fassunke J; Faculty of Medicine and University Hospital Cologne, Institute of Pathology, University of Cologne, Cologne, Germany., Wagener-Ryczek S; Faculty of Medicine and University Hospital Cologne, Institute of Pathology, University of Cologne, Cologne, Germany., Ball M; Faculty of Medicine and University Hospital Cologne, Institute of Pathology, University of Cologne, Cologne, Germany., Dimitrova L; Quality in Pathology (QuIP GmbH), Berlin, Germany., Hartmann A; Institute of Pathology, University Hospital Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Comprehensive Cancer Center Erlangen-EMN, 91054, Erlangen, Germany., Stöhr R; Institute of Pathology, University Hospital Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Comprehensive Cancer Center Erlangen-EMN, 91054, Erlangen, Germany., Erber R; Institute of Pathology, University Hospital Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Comprehensive Cancer Center Erlangen-EMN, 91054, Erlangen, Germany., Weichert W; Institute of Pathology, Technical University Munich, Munich, Germany., Pfarr N; Institute of Pathology, Technical University Munich, Munich, Germany., Bohlmann L; Pathologisches Institut of the Ludwig-Maximilian-Universität München, Munich, Germany.; German Cancer Consortium (DKTK), Partner Site Munich, Munich, Germany., Jung A; Pathologisches Institut of the Ludwig-Maximilian-Universität München, Munich, Germany.; German Cancer Consortium (DKTK), Partner Site Munich, Munich, Germany., Dietmaier W; Institute of Pathology, University of Regensburg, Regensburg, Germany., Dietel M; Charité-Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, Humboldt-Universität zu Berlin and Berlin Institute of Health, Institute of Pathology, Berlin, Germany., Horst D; Charité-Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, Humboldt-Universität zu Berlin and Berlin Institute of Health, Institute of Pathology, Berlin, Germany., Hummel M; Charité-Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, Humboldt-Universität zu Berlin and Berlin Institute of Health, Institute of Pathology, Berlin, Germany.
Jazyk: angličtina
Zdroj: Virchows Archiv : an international journal of pathology [Virchows Arch] 2023 Apr; Vol. 482 (4), pp. 697-706. Date of Electronic Publication: 2022 Nov 11.
DOI: 10.1007/s00428-022-03445-x
Abstrakt: Precision oncology based on specific molecular alterations requires precise and reliable detection of therapeutic targets in order to initiate the optimal treatment. In many European countries-including Germany-assays employed for this purpose are highly diverse and not prescribed by authorities, making inter-laboratory comparison difficult. To ensure reproducible molecular diagnostic results across many laboratories and different assays, ring trials are essential and a well-established tool. Here, we describe the design and results of the ring trial for the detection of therapeutically relevant PIK3CA hotspot mutations in HR+/HER2-breast cancer tissue and liquid biopsy (LB). For PIK3CA mutation detection in tissue samples, 43 of the 54 participants (80%) provided results compliant with the reference values. Participants using NGS-based assays showed higher success rate (82%) than those employing Sanger sequencing (57%). LB testing was performed with two reference materials differing in the length of the mutated DNA fragments. Most participants used NGS-based or commercial real-time PCR assays (70%). The 167 bp fragments led to a successful PIK3CA mutation detection by only 31% of participants whereas longer fragments of 490 bp were detectable even by non-optimal assays (83%). In conclusion, the first ring trial for PIK3CA mutation detection in Germany showed that PIK3CA mutation analysis is broadly established for tissue samples and that NGS-based tests seem to be more suitable than Sanger sequencing. PIK3CA mutation detection in LB should be carried out with assays specifically designed for this purpose in order to avoid false-negative results.
(© 2022. The Author(s).)
Databáze: MEDLINE
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