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Updated: Jul 15, 2025
Comparative Lesions Analysis Through a Targeted Sequencing Approach
Published on: November 5, 2019
Next-Generation Sequencing-Based Analysis of Clinical and Pathological Features of PIK3CA-Mutated Breast Cancer
Jolanta Smok-Kalwat1, Grzegorz Chmielewski2,3, Rafał Stando2
1Department of Clinical Oncology, Holycross Cancer Center, 25-734 Kielce, Poland.
Abstract:
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.
Insights
PIK3CA mutations in breast cancer are linked to older age at diagnosis and higher rates of metastasis. However, these genetic alterations did not significantly impact patient survival outcomes in this study.
Area of Science:
- Oncology
- Genetics
- Molecular Biology
Background:
- Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha (PIK3CA) is a frequently mutated oncogene in breast cancer.
- PIK3CA mutations disrupt phosphatidylinositol 3-kinase pathways, driving uncontrolled cell growth and differentiation.
- Targeting PIK3CA, with drugs like alpelisib, is a key strategy in precision oncology.
Purpose of the Study:
- To compare the clinical characteristics and prognostic implications of PIK3CA-mutated versus PIK3CA-wild-type breast cancer.
- To elucidate the role of PIK3CA mutations in the heterogeneity of breast cancer presentation and progression.
Main Methods:
- Next-generation sequencing panel used to analyze 103 tumor samples from 100 breast cancer patients.
- Comparative analysis of clinical data, including age at diagnosis, protein expression (Ki67, progesterone receptor), metastatic status, and survival outcomes.
Main Results:
- PIK3CA mutations were associated with older age at diagnosis and increased progesterone receptor expression.
- A higher incidence of metastatic disease at presentation was observed in patients with PIK3CA mutations.
- No significant differences in overall survival or progression-free survival were found between PIK3CA-mutated and wild-type groups.
Conclusions:
- PIK3CA mutations influence specific clinical features of breast cancer, including presentation with metastatic disease.
- While PIK3CA mutations impact tumor characteristics, they do not appear to significantly alter overall or progression-free survival.
- These findings contribute to a better understanding of the clinical landscape shaped by PIK3CA mutations in breast cancer patients.
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