Cargando…

Next-Generation Sequencing-Based Analysis of Clinical and Pathological Features of PIK3CA-Mutated Breast Cancer

Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha (PIK3CA) is a well-known oncogene with a high prevalence of mutation in breast cancer patients. The effect of the mutation is a deregulation in phosphatidylinositol 3-kinase-related pathways, and, consequently, in unrestricted ce...

Descripción completa

Detalles Bibliográficos
Autores principales: Smok-Kalwat, Jolanta, Chmielewski, Grzegorz, Stando, Rafał, Sadowski, Jacek, Macek, Paweł, Kowalik, Artur, Nowak-Ozimek, Ewelina, Góźdź, Stanisław
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10528120/
https://www.ncbi.nlm.nih.gov/pubmed/37761256
http://dx.doi.org/10.3390/diagnostics13182887
_version_ 1785111226147143680
author Smok-Kalwat, Jolanta
Chmielewski, Grzegorz
Stando, Rafał
Sadowski, Jacek
Macek, Paweł
Kowalik, Artur
Nowak-Ozimek, Ewelina
Góźdź, Stanisław
author_facet Smok-Kalwat, Jolanta
Chmielewski, Grzegorz
Stando, Rafał
Sadowski, Jacek
Macek, Paweł
Kowalik, Artur
Nowak-Ozimek, Ewelina
Góźdź, Stanisław
author_sort Smok-Kalwat, Jolanta
collection PubMed
description Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha (PIK3CA) is a well-known oncogene with a high prevalence of mutation in breast cancer patients. The effect of the mutation is a deregulation in phosphatidylinositol 3-kinase-related pathways, and, consequently, in unrestricted cell growth and differentiation. With the advent of precision oncology, PIK3CA has emerged as a pivotal treatment target, culminating in the recent approval of alpelisib. Despite years of research on this genetic alteration, certain aspects of its influence on the prognosis of breast cancer remain ambiguous. The purpose of this analysis is to characterize the clinical picture of breast cancer patients with PIK3CA mutation in comparison to the PIK3CA-wild-type group. We examined 103 tumor samples from 100 breast cancer patients using a next-generation sequencing panel. Presence of the mutation was linked to an older age at diagnosis, a lower expression of Ki67 protein, a greater percentage of tumors expressing progesterone receptors, and a notably higher incidence of metastatic disease at presentation. No significant differences were identified in overall and progression-free survival between the two groups. Our findings enhance the understanding of how PIK3CA mutations shape the clinical and prognostic landscape for breast cancer patients.
format Online
Article
Text
id pubmed-10528120
institution National Center for Biotechnology Information
language English
publishDate 2023
publisher MDPI
record_format MEDLINE/PubMed
spelling pubmed-105281202023-09-28 Next-Generation Sequencing-Based Analysis of Clinical and Pathological Features of PIK3CA-Mutated Breast Cancer Smok-Kalwat, Jolanta Chmielewski, Grzegorz Stando, Rafał Sadowski, Jacek Macek, Paweł Kowalik, Artur Nowak-Ozimek, Ewelina Góźdź, Stanisław Diagnostics (Basel) Article Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha (PIK3CA) is a well-known oncogene with a high prevalence of mutation in breast cancer patients. The effect of the mutation is a deregulation in phosphatidylinositol 3-kinase-related pathways, and, consequently, in unrestricted cell growth and differentiation. With the advent of precision oncology, PIK3CA has emerged as a pivotal treatment target, culminating in the recent approval of alpelisib. Despite years of research on this genetic alteration, certain aspects of its influence on the prognosis of breast cancer remain ambiguous. The purpose of this analysis is to characterize the clinical picture of breast cancer patients with PIK3CA mutation in comparison to the PIK3CA-wild-type group. We examined 103 tumor samples from 100 breast cancer patients using a next-generation sequencing panel. Presence of the mutation was linked to an older age at diagnosis, a lower expression of Ki67 protein, a greater percentage of tumors expressing progesterone receptors, and a notably higher incidence of metastatic disease at presentation. No significant differences were identified in overall and progression-free survival between the two groups. Our findings enhance the understanding of how PIK3CA mutations shape the clinical and prognostic landscape for breast cancer patients. MDPI 2023-09-08 /pmc/articles/PMC10528120/ /pubmed/37761256 http://dx.doi.org/10.3390/diagnostics13182887 Text en © 2023 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).
spellingShingle Article
Smok-Kalwat, Jolanta
Chmielewski, Grzegorz
Stando, Rafał
Sadowski, Jacek
Macek, Paweł
Kowalik, Artur
Nowak-Ozimek, Ewelina
Góźdź, Stanisław
Next-Generation Sequencing-Based Analysis of Clinical and Pathological Features of PIK3CA-Mutated Breast Cancer
title Next-Generation Sequencing-Based Analysis of Clinical and Pathological Features of PIK3CA-Mutated Breast Cancer
title_full Next-Generation Sequencing-Based Analysis of Clinical and Pathological Features of PIK3CA-Mutated Breast Cancer
title_fullStr Next-Generation Sequencing-Based Analysis of Clinical and Pathological Features of PIK3CA-Mutated Breast Cancer
title_full_unstemmed Next-Generation Sequencing-Based Analysis of Clinical and Pathological Features of PIK3CA-Mutated Breast Cancer
title_short Next-Generation Sequencing-Based Analysis of Clinical and Pathological Features of PIK3CA-Mutated Breast Cancer
title_sort next-generation sequencing-based analysis of clinical and pathological features of pik3ca-mutated breast cancer
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10528120/
https://www.ncbi.nlm.nih.gov/pubmed/37761256
http://dx.doi.org/10.3390/diagnostics13182887
work_keys_str_mv AT smokkalwatjolanta nextgenerationsequencingbasedanalysisofclinicalandpathologicalfeaturesofpik3camutatedbreastcancer
AT chmielewskigrzegorz nextgenerationsequencingbasedanalysisofclinicalandpathologicalfeaturesofpik3camutatedbreastcancer
AT standorafał nextgenerationsequencingbasedanalysisofclinicalandpathologicalfeaturesofpik3camutatedbreastcancer
AT sadowskijacek nextgenerationsequencingbasedanalysisofclinicalandpathologicalfeaturesofpik3camutatedbreastcancer
AT macekpaweł nextgenerationsequencingbasedanalysisofclinicalandpathologicalfeaturesofpik3camutatedbreastcancer
AT kowalikartur nextgenerationsequencingbasedanalysisofclinicalandpathologicalfeaturesofpik3camutatedbreastcancer
AT nowakozimekewelina nextgenerationsequencingbasedanalysisofclinicalandpathologicalfeaturesofpik3camutatedbreastcancer
AT gozdzstanisław nextgenerationsequencingbasedanalysisofclinicalandpathologicalfeaturesofpik3camutatedbreastcancer