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- Title
Sensitive and robust liquid biopsy-based detection of PIK3CA mutations in hormone-receptor-positive metastatic breast cancer patients.
- Authors
Suppan, Christoph; Graf, Ricarda; Jahn, Stephan; Zhou, Qing; Klocker, Eva Valentina; Bartsch, Rupert; Terbuch, Angelika; Kashofer, Karl; Regitnig, Peter; Lindenmann, Joerg; Posch, Florian; Gerritsmann, Hanno; Jost, Philipp J.; Heitzer, Ellen; Dandachi, Nadia; Balic, Marija
- Abstract
Background: The benefit of alpelisib in hormone-receptor-positive (HR+) metastatic breast cancer patients provided clinical evidence for the increasing importance of PIK3CA testing. We performed a comparison of liquid biopsy and tissue-based detection of PIK3CA mutations. Materials and methods: PIK3CA hotspot mutation analysis using a high-resolution SiMSen-Seq assay was performed in plasma from 93/99 eligible patients with HR+/HER2− breast cancer. Additionally, mFAST-SeqS was used to estimate the tumour fractions in plasma samples. In 72/93 patients, matched tissue was available and analysed using a customised Ion Torrent panel. Results: PIK3CA mutations were detected in 48.6% of tissue samples and 47.3% of plasma samples, with identical PIK3CA mutation detected in 24/72 (33.3%) patients both in tissue and plasma. In 10 (13.9%) patients, mutations were only found in plasma, and in 6 (8.3%) patients, PIK3CA mutations found in tissue were not detectable in ctDNA. In 49/93 plasma samples without detectable PIK3CA mutations, 22 (44.9%) samples had elevated tumour fractions, implying true negative results. Conclusion: SiMSen-Seq-based detection of PIK3CA mutations in plasma shows advantageous concordance with the tissue analyses. A combination with an untargeted approach for detecting ctDNA fractions may confirm a negative PIK3CA result and enhance the performance of the SiMSen-Seq test.
- Publication
British Journal of Cancer, 2022, Vol 126, Issue 3, p456
- ISSN
0007-0920
- Publication type
Article
- DOI
10.1038/s41416-021-01601-9