Related Experiment Video
Updated: Jun 4, 2025

Next Generation Sequencing for the Detection of Actionable Mutations in Solid and Liquid Tumors
Published on: September 20, 2016
PIK3CA Mutations and Co-Mutations in Operated Non-Small Cell Lung Carcinoma
Salih Cokpinar1, Ibrahim Halil Erdogdu2, Seda Orenay-Boyacioglu3
1Department of Thoracic Surgery, School of Medicine, Aydin Adnan Menderes University, Aydin 09010, Türkiye.
Abstract:
Background: Understanding PIK3CA mutations and co-mutations in non-small cell lung carcinoma (NSCLC) is critical to developing personalized treatment strategies. Therefore, this study aims to investigate PIK3CA mutations and the accompanying somatic variations in NSCLC. Methods: This retrospective study included 98 patients over 18 years of age who were diagnosed with NSCLC, operated on, and referred to the Molecular Pathology Laboratory between January 2019 and June 2024 for next-generation sequencing panel tests and ALK-ROS1 FISH analysis. Results: All patients were found to carry PIK3CA mutations. Among the 98 NSCLC patients analyzed, 16 (16.33%) were female and 82 (83.67%) were male. The average age of the patients was 64.53 ± 9.63 years, with an age range of 38-84 years, and the majority were 50 years or older. Of the cases, 51 presented the adenocarcinoma subtype, while the remaining 47 showed the squamous cell carcinoma subtype. A smoking history was present in 77 (78.57%) patients, while 21 (21.43%) had no smoking history. The most frequently detected pathogenic or likely pathogenic PIK3CA variations were c.1633G>A p.E545K (32.65%), c.1624G>A p.E542K (11.22%), c.3140A>G p.H1047R (11.22%), c.3140A>T p.H1047L (5.10%), c.1357G>C p.E453Q (4.08%), and c.3143A>G p.H1048R (2.04%). The top 10 mutations that most commonly accompanied PIK3CA variations were KRAS, NF1, TP53, EGFR, PTEN, BRAF, KIT, CDKN2A, SMARCA4, and ATM mutations, respectively. Conclusions:PIK3CA variations, along with other gene variations, may influence cancer progression and thus may play a crucial role in the determination of targeted treatment strategies.
Insights
This study found PIK3CA mutations in all non-small cell lung carcinoma (NSCLC) patients, with common variants like E545K. These PIK3CA mutations, alongside others like KRAS and TP53, are crucial for personalized NSCLC treatment strategies.
Area of Science:
- Oncology
- Molecular Pathology
- Genetics
Background:
- Understanding PIK3CA mutations and co-mutations is vital for personalized non-small cell lung carcinoma (NSCLC) treatment.
- This study investigates PIK3CA mutations and associated somatic variations in NSCLC patients.
Purpose of the Study:
- To investigate PIK3CA mutations and accompanying somatic variations in non-small cell lung carcinoma (NSCLC).
- To identify common PIK3CA variants and co-occurring mutations for potential targeted therapy development.
Main Methods:
- Retrospective analysis of 98 NSCLC patients undergoing next-generation sequencing and ALK-ROS1 FISH analysis.
- Data collected between January 2019 and June 2024 from patients aged over 18.
Main Results:
- All 98 NSCLC patients analyzed harbored PIK3CA mutations.
- The most frequent PIK3CA variants included c.1633G>A p.E545K (32.65%), c.1624G>A p.E542K (11.22%), and c.3140A>G p.H1047R (11.22%).
- Commonly co-occurring mutations involved KRAS, NF1, TP53, and EGFR.
Conclusions:
- PIK3CA variations, frequently observed in NSCLC, are critical in cancer progression.
- The presence of PIK3CA and other gene variations significantly influences the determination of targeted treatment strategies for NSCLC.
More Related Videos
07:59Author Spotlight: Advancements in Molecular Biomarker Testing for Non-Squamous Non-Small Cell Lung Cancer
Published on: September 8, 2023
06:51Utilizing 18F-FDG PET/CT Imaging and Quantitative Histology to Measure Dynamic Changes in the Glucose Metabolism in Mouse Models of Lung Cancer
Published on: July 21, 2018
Related Concept Videos
The Ras Gene
Ras is a...
Cancers Originate from Somatic Mutations in a Single Cell
Cancer-Critical Genes II: Tumor Suppressor Genes
When the function of certain critical genes, especially those involved in cell cycle regulation and cell growth signaling cascades, gets disrupted, it upsets the cell cycle progression. Such cells with unchecked cell cycles start proliferating uncontrollably and eventually develop into tumors.
Such genes that act...
Cancer-Critical Genes I: Proto-oncogenes
When the function of certain critical genes, especially those involved in cell cycle regulation and cell growth signaling cascades, gets disrupted, it upsets the cell cycle progression. Such cells with unchecked cell cycles start proliferating uncontrollably and eventually develop into tumors.
Such genes that act...
Abnormal Proliferation
lncRNA - Long Non-coding RNAs