Cancer Research and Treatment

Original Articles

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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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

Analysis of PIK3CA mutations in the primary and recurrent tumors of hormone receptor positive/human epidermal growth factor receptor 2 negative breast cancer
Yue Wang, Xin Li, Shuang Zhang, Li Liang, Ling Xu, Yinhua Liu, Ting Li
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

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Detection of Targetable Genetic Alterations in Korean Lung Cancer Patients: A Comparison Study of Single-Gene Assays and Targeted Next-Generation Sequencing: Eunhyang Park, Hyo Sup Shim; Cancer Res Treat. 2020;52(2):543-551. Published online November 8, 2019; DOI: https://doi.org/10.4143/crt.2019.305

Abstract PDF Supplementary Material PubReader ePub

Purpose
Epidermal growth factor receptor (EGFR), anaplastic lymphoma kinase (ALK), and ROS proto-oncogene 1 (ROS1) are ‘must-test’ biomarkers in the molecular diagnostics of advanced-stage lung cancer patients. Although single-gene assays are currently considered the gold standard for these genes, next-generation sequencing (NGS) tests are being introduced to clinical practices. We compared the results of current diagnostics and aimed to suggest timely effective guidance for their clinical use.
Materials and Methods
Patients with lung cancer who received both conventional single-gene assays and subsequent targeted NGS testing were enrolled, and the results of their tests were compared.
Results
A total of 241 patients were enrolled, and the EGFR real-time polymerase chain reaction, ALK fluorescence in situ hybridization (FISH), and ROS1 FISH assays exhibited 92.9%, 99.6%, and 99.5% concordance with the NGS tests, respectively. The discordant cases were mostly false-negatives of the single-gene assays, probably due to technical limitation. Of 158 cases previously designated as wild-type, EGFR, ALK, and ROS1 alterations were identified in 10.1%, 1.9%, and 1.3%, respectively, and other targetable alterations were identified in 36.1% of the cases. Of patients with additionally identified actionable alterations, 32.6% (31/95) received matched therapy with a clinical benefit of 48.4% (15/31).
Conclusion
Even though the conventional and NGS methods were concordant in the majority of cases, NGS testing still revealed a considerable number of additional EGFR, ALK, and ROS1 alterations, as well as other targetable alterations, in Korean advanced-stage lung cancer patients. Given the high frequency of EGFR and other targetable mutations identified in the present study, NGS testing is highly recommended in the diagnosis of Korean lung cancer patients.

Citations

Citations to this article as recorded by

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Prognostic value of preoperative circulating tumor DNA in non-small cell lung cancer: a systematic review and meta-analysis
Jiamin Lu, Yuqian Feng, Kaibo Guo, Leitao Sun, Shanming Ruan, Kai Zhang
Journal of Cancer Research and Clinical Oncology.2024;[Epub] CrossRef
Cost-effectiveness of next-generation sequencing for advanced EGFR/ALK-negative non-small cell lung cancer
Dong-Won Kang, Sun-Kyeong Park, Sokbom Kang, Eui-Kyung Lee
Lung Cancer.2024; 197: 107970. CrossRef
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European Journal of Cancer.2023; 193: 113310. CrossRef
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Yoon Jin Cha, Chung Lee, Bio Joo, Kyung A Kim, Choong-kun Lee, Hyo Sup Shim
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Cheol Keun Park, Nam Hoon Cho
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8,417 View
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