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Original Article
- Breast cancer
- Analysis of PIK3CA Mutation Concordance and Frequency in Primary and Different Distant Metastatic Sites in Breast Cancer
- Jieun Park, Soo Youn Cho, Eun Sol Chang, Minjung Sung, Ji-Young Song, Kyungsoo Jung, Sung-Su Kim, Young Kee Shin, Yoon-La Choi
- Cancer Res Treat. 2023;55(1):145-154. Published online April 20, 2022
- DOI: https://doi.org/10.4143/crt.2022.001
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Abstract
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ePub - Purpose
The purpose of this study was to investigate the concordance rate of PIK3CA mutations between primary and matched distant metastatic sites in patients with breast cancer and to verify whether there are differences in the frequency of PIK3CA hotspot mutations depending on the metastatic sites involved.
Materials and Methods
Archived formalin-fixed paraffin-embedded (FFPE) specimens of primary breast and matched distant metastatic tumors were retrospectively obtained for 49 patients. Additionally, 40 archived FFPE specimens were independently collected from different breast cancer metastatic sites, which were limited to three common sites: the liver, brain, and lung. PIK3CA mutations were analyzed using droplet digital PCR, including hotspots involving exons 9 and 20.
Results
After analysis of 49 breast tumors with matched metastasis sites, 87.8% showed concordance in PIK3CA mutation status. According to PIK3CA hotspot mutation testing in 89 cases of breast cancer metastatic sites, the proportion of PIK3CA mutations at sites of metastasis involving the liver, brain, and lung was 37.5%, 28.6%, and 42.9%, respectively, which did not result in statistical significance.
Conclusion
The high concordance of PIK3CA mutation status between primary and matched metastasis sites suggests that metastatic sites, regardless of the metastatic organ, could be considered sample sources for PIK3CA mutation testing for improved therapeutic strategies in patients with metastatic breast cancer. -
Citations
Citations to this article as recorded by
- Machine learning prediction of breast cancer local recurrence localization, and distant metastasis after local recurrences
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Scientific Reports.2025;[Epub] CrossRef - Prevalence and spectrum of PIK3 mutations in breast cancer and their correlation with clinicopathological features: A cross-sectional observational study from South India
HS Darling, Rahul Sud, Deep Kumar Raman
Cancer Research, Statistics, and Treatment.2025; 8(1): 39. CrossRef - Analysis of PIK3CA mutations in the primary and recurrent tumors of hormone receptor positive/human epidermal growth factor receptor 2 negative breast cancer
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Japanese Journal of Clinical Oncology.2024; 54(9): 1024. CrossRef - Discordance of PIK3CA mutational status between primary and metastatic breast cancer: a systematic review and meta-analysis
Justus Rosin, Ella Svegrup, Antonios Valachis, Ioannis Zerdes
Breast Cancer Research and Treatment.2023; 201(2): 161. CrossRef - Analytical Performance of Next-Generation Sequencing and RT-PCR on Formalin-Fixed Paraffin-Embedded Tumor Tissues for PIK3CA Testing in HR+/HER2− Breast Cancer
Konstantinos Venetis, Francesco Pepe, Elisabetta Munzone, Elham Sajjadi, Gianluca Russo, Pasquale Pisapia, Mariia Ivanova, Giuseppina Bonizzi, Davide Vacirca, Alessandra Rappa, Alberto Ranghiero, Sergio Vincenzo Taormina, Giuseppe Viale, Giancarlo Troncon
Cells.2022; 11(22): 3545. CrossRef
- Machine learning prediction of breast cancer local recurrence localization, and distant metastasis after local recurrences
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