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Analysis of PIK3CA Mutation Concordance and Frequency in Primary and Different Distant Metastatic Sites in Breast Cancer

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 site...

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Autores principales: Park, Jieun, Cho, Soo Youn, Chang, Eun Sol, Sung, Minjung, Song, Ji-Young, Jung, Kyungsoo, Kim, Sung-Su, Shin, Young Kee, Choi, Yoon-La
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Korean Cancer Association 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9873343/
https://www.ncbi.nlm.nih.gov/pubmed/35468270
http://dx.doi.org/10.4143/crt.2022.001
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author Park, Jieun
Cho, Soo Youn
Chang, Eun Sol
Sung, Minjung
Song, Ji-Young
Jung, Kyungsoo
Kim, Sung-Su
Shin, Young Kee
Choi, Yoon-La
author_facet Park, Jieun
Cho, Soo Youn
Chang, Eun Sol
Sung, Minjung
Song, Ji-Young
Jung, Kyungsoo
Kim, Sung-Su
Shin, Young Kee
Choi, Yoon-La
author_sort Park, Jieun
collection PubMed
description 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 polymerase chain reaction, 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.
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spelling pubmed-98733432023-02-02 Analysis of PIK3CA Mutation Concordance and Frequency in Primary and Different Distant Metastatic Sites in Breast Cancer Park, Jieun Cho, Soo Youn Chang, Eun Sol Sung, Minjung Song, Ji-Young Jung, Kyungsoo Kim, Sung-Su Shin, Young Kee Choi, Yoon-La Cancer Res Treat Original Article 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 polymerase chain reaction, 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. Korean Cancer Association 2023-01 2022-04-20 /pmc/articles/PMC9873343/ /pubmed/35468270 http://dx.doi.org/10.4143/crt.2022.001 Text en Copyright © 2023 by the Korean Cancer Association https://creativecommons.org/licenses/by-nc/4.0/This is an Open-Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/4.0/ (https://creativecommons.org/licenses/by-nc/4.0/) ) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Original Article
Park, Jieun
Cho, Soo Youn
Chang, Eun Sol
Sung, Minjung
Song, Ji-Young
Jung, Kyungsoo
Kim, Sung-Su
Shin, Young Kee
Choi, Yoon-La
Analysis of PIK3CA Mutation Concordance and Frequency in Primary and Different Distant Metastatic Sites in Breast Cancer
title Analysis of PIK3CA Mutation Concordance and Frequency in Primary and Different Distant Metastatic Sites in Breast Cancer
title_full Analysis of PIK3CA Mutation Concordance and Frequency in Primary and Different Distant Metastatic Sites in Breast Cancer
title_fullStr Analysis of PIK3CA Mutation Concordance and Frequency in Primary and Different Distant Metastatic Sites in Breast Cancer
title_full_unstemmed Analysis of PIK3CA Mutation Concordance and Frequency in Primary and Different Distant Metastatic Sites in Breast Cancer
title_short Analysis of PIK3CA Mutation Concordance and Frequency in Primary and Different Distant Metastatic Sites in Breast Cancer
title_sort analysis of pik3ca mutation concordance and frequency in primary and different distant metastatic sites in breast cancer
topic Original Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9873343/
https://www.ncbi.nlm.nih.gov/pubmed/35468270
http://dx.doi.org/10.4143/crt.2022.001
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