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Updated: May 14, 2026
Detection of Targetable Alterations in Non-small Cell Lung Cancer using Next-generation Sequencing
Published on: October 10, 2025
Identification of uncommon PIK3CA mutations in lung cancer by using pyrosequencing
Verena Schildgen1, Jessica Lüsebrink, Jan D Appel
1Institut für Pathologie, Kliniken der Stadt Köln gGmbH, Köln, Germany.
Introduction:
Phospatidylinositol-3-kinases (PI3K) play an important role in various cell processes. Oncogenic mutations in the PIK3CA gene, which codes for the catalytic subunit, have been identified in various malignancies and activate the PI3K/AKT/mTOR pathway, which is a critical driver of tumorigenesis.
Methods:
We tested 41 tumor samples with known KRAS, BRAF, and EGFR mutation status for the occurrence of mutations in the PIK3CA gene, using a pyrosequencing assay.
Results:
Pyrosequencing revealed 2 mutations (4.9%) in the PIK3CA gene, one in exon 9 and the other in exon 20. Both mutations have not been identified yet in lung tumor tissue.
Discussion:
The screening of our small patient cohort by pyrosequencing identified 2 mutations (4.9%) in PIK3CA, one in exon 9 (Q546H) and the other in exon 20 (M1043T). Both mutations have not been described in lung tumors yet and seem to be rather uncommon mutations. Future screening of large patient cohorts with pyrosequencing may contribute to the detection of more mutations in lung cancer because of the low limit of detections of this method and may contribute to a better understanding of the interaction of mutations and tumorigenesis.
Insights
Two uncommon PIK3CA gene mutations (Q546H and M1043T) were detected in lung tumors using pyrosequencing. Further research in larger cohorts may reveal more PIK3CA mutations and improve understanding of lung cancer tumorigenesis.
Area of Science:
- Oncology
- Molecular Biology
- Genetics
Background:
- Phosphatidylinositol-3-kinases (PI3K) are crucial for cellular processes.
- Activating mutations in the PIK3CA gene drive tumorigenesis via the PI3K/AKT/mTOR pathway.
- PIK3CA mutations are implicated in various cancers.
Purpose of the Study:
- To investigate the occurrence of PIK3CA gene mutations in lung tumor samples.
- To identify novel or uncommon PIK3CA mutations in lung cancer.
Main Methods:
- Pyrosequencing assay used to analyze 41 lung tumor samples.
- Samples had known KRAS, BRAF, and EGFR mutation status.
- Focused on detecting mutations in the PIK3CA gene.
Main Results:
- Two PIK3CA mutations were identified in 4.9% of the samples.
- Mutations were located in exon 9 (Q546H) and exon 20 (M1043T).
- These specific mutations had not been previously reported in lung tumor tissue.
Conclusions:
- Pyrosequencing detected uncommon PIK3CA mutations (Q546H, M1043T) in a small lung cancer cohort.
- These findings suggest PIK3CA mutations may be rare in lung tumors.
- Larger cohort screening with pyrosequencing could uncover more mutations and advance understanding of lung cancer development.