ArticleESMO open2021
PIK3CA mutations in plasma circulating tumor DNA predict survival and treatment outcomes in patients with advanced cancers.
Article in ESMO open, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 papers.
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Who cites it
26 citing papers in PubMed.
- Non-Invasive Diagnosis of Early Breast Cancer: Current and Emerging Liquid Biopsy Biomarkers.Cancers · 2026Review
- Integrating PIK3CA Testing into Clinical Practice for Advanced HR+/HER2- Breast Cancer: An Expert Consensus.Breast (Edinburgh, Scotland) · 2026Article
- Review
- Article
- Liquid Biopsy and Multi-Omic Biomarkers in Breast Cancer: Innovations in Early Detection, Therapy Guidance, and Disease Monitoring.Biomedicines · 2025Review
- Comprehensive molecular landscape of anal squamous cell carcinoma: analysis of tissue and liquid biopsies from 1844 patients.NPJ precision oncology · 2025Article
- Prognostic Value of Circulating Tumor DNA in HR+/HER2- Stage I-III Breast Cancer: A Systematic Review.Cancers · 2025Review
- TSC2-mutated perivascular epithelioid cell tumor with partial response to mTOR inhibition: a case report and literature review.Discover oncology · 2025Article
- Polydatin exerts therapeutic effects on myelodysplastic syndrome by inhibiting the protein expression of oncogenes via hypermethylation in vitro.Scientific reports · 2025Article
- Circulating tumor DNA to monitor treatment response in solid tumors and advance precision oncology.NPJ precision oncology · 2025Review
- High frequency of the PIK3CA H1047L mutation in Indonesian breast cancer across molecular subtypes.PloS one · 2025Article
- Circulating tumor cells: indicators of cancer progression, plasticity and utility for therapies.Pathology oncology research : POR · 2025Review
- Circulating cell-free HPV DNA is a strong marker for disease severity in cervical cancer.Molecular oncology · 2024Article
- Plasma-Based Comprehensive Genomic Profiling DNA Assays for Non-Small Cell Lung Cancer: A Health Technology Assessment.Ontario health technology assessment series · 2024Article
- The role of PIK3CA gene mutations in colorectal cancer and the selection of treatment strategies.Frontiers in pharmacology · 2024Review
- Genomic analysis of plasma circulating tumor DNA in patients with heavily pretreated HER2 + metastatic breast cancer.Scientific reports · 2023Article
- Expression and Correlation Research of MicroRNA10a-5p and PIK3CA in Middle Ear Cholesteatoma.The journal of international advanced otology · 2023Article
- Review
- Review
- Prognostic value of plasma circulating tumor DNA fraction across four common cancer types: a real-world outcomes study.Annals of oncology : official journal of the European Society for Medical Oncology · 2023Article
Corrections and comments
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Authors and funding
21 authors.
Funding
Abstract
backgroundOncogenic mutations in PIK3CA are prevalent in diverse cancers and can be targeted with inhibitors of the phosphoinositide-3-kinase/protein kinase B/mammalian target of rapamycin (PI3K/AKT/mTOR) pathway. Analysis of circulating tumor DNA (ctDNA) provides a minimally invasive approach to detect clinically actionable PIK3CA mutations. PATIENTS AND
methodsWe analyzed PIK3CA hotspot mutation frequency by droplet digital PCR (QX 200; BioRad) using 16 ng of unamplified plasma-derived cell-free DNA from 68 patients with advanced solid tumors (breast cancer, n = 41; colorectal cancer, n = 13; other tumor types, n = 14). Results quantified as variant allele frequencies (VAFs) were compared with previous testing of archival tumor tissue and with patient outcomes.
resultsOf 68 patients, 58 (85%) had PIK3CA mutations in tumor tissue and 43 (74%) PIK3CA mutations in ctDNA with an overall concordance of 72% (49/68, κ = 0.38). In a subset analysis, which excluded samples from 26 patients known not to have disease progression at the time of sample collection, we found an overall concordance of 91% (38/42; κ = 0.74). PIK3CA-mutated ctDNA VAF of ≤8.5% (5% trimmed mean) showed a longer median survival compared with patients with a higher VAF (15.9 versus 9.4 months; 95% confidence interval 6.7-17.1 months; P = 0.014). Longitudinal analysis of ctDNA in 18 patients with serial plasma collections (range 2-22 time points, median 5) showed that those with a decrease in PIK3CA VAF had a longer time to treatment failure (TTF) compared with patients with an increase or no change (10.7 versus 2.6 months; P = 0.048).
conclusionsDetection of PIK3CA mutations in ctDNA is concordant with testing of archival tumor tissue. Low quantity of PIK3CA-mutant ctDNA is associated with longer survival and a decrease in PIK3CA-mutant ctDNA on therapy is associated with longer TTF.
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