Background: PIK3CA is associated with tumor progression, and the prevalence of PIK3CA mutation is high in breast cancer. Liquid biopsy offers convenient, noninvasive, and real-time insight into genetic alteration. In this study, we used liquid biopsy to detect PIK3CA mutations in patients with breast cancer.
Methods: We recruited patients with histologically confirmed breast cancer and distant metastases between April 2020 and September 2020. Circulating DNA was extracted from plasma (ctDNA) and exosomes (exoDNA). PIK3CA mutations (exons 9 and 20) were analyzed by droplet digital PCR.
Results: Of the 52 patients recruited, 16 had PIK3CA mutations in tumor tissue or blood: 9 had exon 9 mutations (E542K and E545K) and 8 had exon 20 mutations (H1047 L and H1047R). In 8 (15%) of the 52 patients, PIK3CA mutations were detected by liquid biopsies using ctDNA in 5 (9%), exoDNA in 6 (11%), and both ctDNA and exoDNA in 3 (6%). Of the 8 patients with PIK3CA mutations detected by liquid biopsies, 3 had no PIK3CA mutations in the primary tumors.
Conclusions: PIK3CA mutations can be detected by liquid biopsy even in patients with no PIK3CA mutations in their primary tumors; thus, combination analysis using tissue and liquid biopsies can provide clinically useful information for patients with breast cancer.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1272/jnms.JNMS.2022_89-107 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Precision medicine for patients with salivary gland neoplasms: Determining the feasibility of implementing a next-generation sequencing-based RNA assay in a hospital laboratory.
Cytojournal
November 2024
Department of Pathology and Genomic Medicine, Houston Methodist, Houston, Texas, USA.
Objective: Diagnosing neoplasms of the salivary gland is challenging, as morphologic features of these tumors are complex, and well-defined diagnostic categories have overlapping features. Many salivary gland neoplasms are associated with recurrent genetic alterations. The utilization of RNA-based targeted next-generation sequencing (NGS) panels for the detection of cancer-driving translocations and mutations is emerging in the clinical laboratory.
View Article and Find Full Text PDFMolecular diversity of embryonic-type neuroectodermal tumors arising from testicular germ cell tumors.
Mod Pathol
December 2024
Department of Pathology & Laboratory Medicine, University of California Los Angeles,. Electronic address:
Embryonic-type neuroectodermal tumors (ENTs) arising from testicular germ cell tumors (GCTs) is a relatively common type of somatic transformation in GCTs with poor prognosis and limited therapeutic options, particularly when patients develop disease recurrence or metastasis. Knowledge of key events driving this transformation is limited to the paucity of comprehensive genomic data. We performed a retrospective database search in a CLIA- and CAP-certified laboratory for testicular GCT-derived ENTs that had previously undergone NGS-based comprehensive genomic profiling during the course of clinical care.
View Article and Find Full Text PDFAssociation of SIGLEC9 Expression with Cytokine Expression, Tumor Grading, KRAS, NRAS, BRAF, PIK3CA, AKT Gene Mutations, and MSI Status in Colorectal Cancer.
Curr Issues Mol Biol
November 2024
Department of Medical and Molecular Biology, Faculty of Medical Sciences in Zabrze, Medical University of Silesia, 19 Jordana, 41-808 Zabrze, Poland.
SIGLEC9 (sialic acid-binding Ig-like lectin 9) is a molecule thought to have a significant influence on the immune properties of the colorectal cancer (CRC) tumor microenvironment (TME). In our study, we assessed the expression of the SIGLEC9 protein in CRC tissue and the surgical margin tissue. Using RT-PCR, we analyzed mutations in the KRAS, NRAS, BRAF, PIK3CA, and AKT genes.
View Article and Find Full Text PDFAdvances in the Treatment of Congenital Infiltrating Lipomatosis of the Face: The Role of PIK3CA Mutations and Microvascular Reconstruction.
J Craniofac Surg
October 2024
Department of Oral Maxillofacial Surgery, Walter Reed National Military Medical Center.
Congenital infiltrating lipomatosis of the face is a rare aggressive-benign disorder characterized by progressive hemifacial overgrowth and complex, often asymmetrical, facial differences. Recently linked with the PIK3CA-Related Overgrowth Spectrum, it arises from mosaic mutations in the PIK3CA gene. Treatment, largely supportive and tailored to individual clinical presentations, requires a multidisciplinary approach.
View Article and Find Full Text PDFOncogenic activation of in cancers: Emerging targeted therapies in precision oncology.
Genes Dis
March 2025
Department of Genetics and Genome Sciences, Case Western Reserve University, Cleveland, OH 44106, USA.
Phosphoinositide 3-kinases (PI3Ks) are heterodimers consisting of a p110 catalytic subunit and a p85 regulatory subunit. The gene, which encodes the p110α, is the most frequently mutated oncogene in cancer. Oncogenic mutations activate the PI3K pathway, promote tumor initiation and development, and mediate resistance to anti-tumor treatments, making the mutant p110α an excellent target for cancer therapy.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!