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PIK3CA gene mutations and amplifications in uterine cancers, identified by methods that avoid confounding by PIK3CA
Takahito Miyake1, Kiyoshi Yoshino, Takayuki Enomoto
1Department of Obstetrics and Gynecology, Osaka University Graduate School of Medicine, 2-2, Yamadaoka, Suita, Osaka 5650871, Japan.
Abstract:
PIK3CA codes for a Class IA p110-alpha catalytic subunit of the PI3Ks (phosphatidylinositol 3-kinases) that regulate various signaling pathways important for neoplasia, including cell proliferation, motility, adhesion, and survival. Pro-oncogenic mutations in exons 9 and 20 of the PIK3CA gene have been frequently observed in numerous types of human malignancies. Amplification of the PIK3CA gene has been reported in uterine cervical cancers. In this study, we have done in depth analysis of uterine cervical and endometrial cancers for PIK3CA gene mutations and amplifications. In uterine cervical cancers, PIK3CA mutations were found in 3 of 22 cases (14%), all of them in exon 9. In endometrial cancers, a similar incidence of mutations was found, in 3 of 29 cases (10%), however they were all within exon 20. Amplification of the PIK3CA gene was also detected in 2 out of 22 (9%) cervical cancers and 3 out of 29 (10%) endometrial cancers. In this study, we were unable to find a clear association between PIK3CA mutations and gene amplifications, nor with tumor histological subtypes or staging. Mutations and amplifications of the PIK3CA gene are relatively infrequent in human cervical and endometrial cancers; however, PIK3CA gene alteration may still play a role in some subset of uterine cancers.
Insights
PIK3CA gene mutations and amplifications are infrequent in cervical and endometrial cancers. Alterations in PIK3CA may still impact a subset of uterine cancers, suggesting a potential role in tumorigenesis.
Area of Science:
- Oncology
- Molecular Biology
- Genetics
Background:
- The PIK3CA gene encodes the p110-alpha catalytic subunit of phosphatidylinositol 3-kinases (PI3Ks).
- PI3K signaling pathways are crucial for cell proliferation, motility, adhesion, and survival, and are often dysregulated in cancer.
- Pro-oncogenic PIK3CA mutations and gene amplifications are implicated in various human malignancies.
Purpose of the Study:
- To investigate the frequency and types of PIK3CA gene mutations and amplifications in uterine cervical and endometrial cancers.
- To explore potential associations between PIK3CA alterations and clinicopathological features.
Main Methods:
- Analysis of PIK3CA gene mutations and amplifications in patient cohorts of uterine cervical and endometrial cancers.
- Correlation of genetic findings with tumor histological subtypes and staging.
Main Results:
- PIK3CA mutations were detected in 14% of cervical cancers (exon 9) and 10% of endometrial cancers (exon 20).
- Gene amplification of PIK3CA was observed in 9% of cervical cancers and 10% of endometrial cancers.
- No clear association was found between PIK3CA mutations/amplifications and tumor subtypes or staging.
Conclusions:
- PIK3CA gene alterations are relatively infrequent in uterine cervical and endometrial cancers.
- Despite low frequency, PIK3CA alterations might contribute to tumorigenesis in specific subsets of these uterine cancers.