Next-generation sequencing for molecular diagnosis of lung adenocarcinoma specimens obtained by fine needle aspiration cytology
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Updated: Apr 10, 2026
Author Spotlight: Advancements in Molecular Biomarker Testing for Non-Squamous Non-Small Cell Lung Cancer
Published on: September 8, 2023
Tian Qiu1, Huiqin Guo1, Huan Zhao1
1Department of Pathology, Cancer Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China.
Abstract:
Identification of multi-gene variations has led to the development of new targeted therapies in lung adenocarcinoma patients, and identification of an appropriate patient population with a reliable screening method is the key to the overall success of tumor targeted therapies. In this study, we used the Ion Torrent next-generation sequencing (NGS) technique to screen for mutations in 89 cases of lung adenocarcinoma metastatic lymph node specimens obtained by fine-needle aspiration cytology (FNAC). Of the 89 specimens, 30 (34%) were found to harbor epidermal growth factor receptor (EGFR) kinase domain mutations. Seven (8%) samples harbored KRAS mutations, and three (3%) samples had BRAF mutations involving exon 11 (G469A) and exon 15 (V600E). Eight (9%) samples harbored PIK3CA mutations. One (1%) sample had a HRAS G12C mutation. Thirty-two (36%) samples (36%) harbored TP53 mutations. Other genes including APC, ATM, MET, PTPN11, GNAS, HRAS, RB1, SMAD4 and STK11 were found each in one case. Our study has demonstrated that NGS using the Ion Torrent technology is a useful tool for gene mutation screening in lung adenocarcinoma metastatic lymph node specimens obtained by FNAC, and may promote the development of new targeted therapies in lung adenocarcinoma patients.
Insights
Next-generation sequencing (NGS) effectively screened lung adenocarcinoma lymph node samples for gene mutations. This method aids in identifying patients for targeted therapies, advancing personalized cancer treatment.
Area of Science:
- Oncology
- Genetics
- Molecular Biology
Background:
- Multi-gene variations drive targeted therapies in lung adenocarcinoma.
- Effective patient screening is crucial for successful tumor-targeted treatments.
Purpose of the Study:
- To evaluate Ion Torrent next-generation sequencing (NGS) for screening gene mutations in lung adenocarcinoma metastatic lymph node specimens.
- To identify actionable mutations for targeted therapy development.
Main Methods:
- Ion Torrent next-generation sequencing (NGS) was employed.
- 89 lung adenocarcinoma metastatic lymph node specimens obtained via fine-needle aspiration cytology (FNAC) were analyzed.
Main Results:
- Epidermal growth factor receptor (EGFR) mutations were found in 34% of samples.
- KRAS (8%), BRAF (3%), PIK3CA (9%), and TP53 (36%) mutations were identified.
- NGS identified various other gene mutations, including HRAS, APC, ATM, MET, and others.
Conclusions:
- Ion Torrent NGS is a valuable tool for gene mutation screening in lung adenocarcinoma FNAC specimens.
- This screening approach can facilitate the development of novel targeted therapies for lung adenocarcinoma patients.
