Universität zu Köln

Vollbrecht, Claudia ORCID: 0000-0002-0861-001X, Hoffmann, Inga, Lehmann, Annika, Merkelbach-Bruse, Sabine, Fassunke, Jana, Wagener-Ryczek, Svenja, Ball, Markus, Dimitrova, Lora, Hartmann, Arndt, Stohr, Robert, Erber, Ramona, Weichert, Wilko, Pfarr, Nicole, Bohlmann, Lisa, Jung, Andreas, Dietmaier, Wolfgang, Dietel, Manfred, Horst, David and Hummel, Michael (2023). Proficiency testing of PIK3CA mutations in HR+/HER2-breast cancer on liquid biopsy and tissue. Virchows Arch., 482 (4). S. 697 - 707. NEW YORK: SPRINGER. ISSN 1432-2307

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Abstract

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 realtime 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.

Item Type:	Journal Article
Creators:	Creators Email ORCID ORCID Put Code Vollbrecht, Claudia UNSPECIFIED orcid.org/0000-0002-0861-001X UNSPECIFIED Hoffmann, Inga UNSPECIFIED UNSPECIFIED UNSPECIFIED Lehmann, Annika UNSPECIFIED UNSPECIFIED UNSPECIFIED Merkelbach-Bruse, Sabine UNSPECIFIED UNSPECIFIED UNSPECIFIED Fassunke, Jana UNSPECIFIED UNSPECIFIED UNSPECIFIED Wagener-Ryczek, Svenja UNSPECIFIED UNSPECIFIED UNSPECIFIED Ball, Markus UNSPECIFIED UNSPECIFIED UNSPECIFIED Dimitrova, Lora UNSPECIFIED UNSPECIFIED UNSPECIFIED Hartmann, Arndt UNSPECIFIED UNSPECIFIED UNSPECIFIED Stohr, Robert UNSPECIFIED UNSPECIFIED UNSPECIFIED Erber, Ramona UNSPECIFIED UNSPECIFIED UNSPECIFIED Weichert, Wilko UNSPECIFIED UNSPECIFIED UNSPECIFIED Pfarr, Nicole UNSPECIFIED UNSPECIFIED UNSPECIFIED Bohlmann, Lisa UNSPECIFIED UNSPECIFIED UNSPECIFIED Jung, Andreas UNSPECIFIED UNSPECIFIED UNSPECIFIED Dietmaier, Wolfgang UNSPECIFIED UNSPECIFIED UNSPECIFIED Dietel, Manfred UNSPECIFIED UNSPECIFIED UNSPECIFIED Horst, David UNSPECIFIED UNSPECIFIED UNSPECIFIED Hummel, Michael UNSPECIFIED UNSPECIFIED UNSPECIFIED
URN:	urn:nbn:de:hbz:38-692385
DOI:	10.1007/s00428-022-03445-x
Journal or Publication Title:	Virchows Arch.
Volume:	482
Number:	4
Page Range:	S. 697 - 707
Date:	2023
Publisher:	SPRINGER
Place of Publication:	NEW YORK
ISSN:	1432-2307
Language:	English
Faculty:	Unspecified
Divisions:	Unspecified
Subjects:	no entry
Uncontrolled Keywords:	Keywords Language BREAST-CANCER; 3-KINASE Multiple languages Pathology Multiple languages
URI:	http://kups.ub.uni-koeln.de/id/eprint/69238