Next generation sequencing-based molecular profiling of lung adenocarcinoma using pleural effusion specimens

Area of Science:

• Oncology
• Molecular Diagnostics
• Genetics

Background:

• Molecular profiling of non-small cell lung cancer (NSCLC) is crucial for guiding treatment decisions.
• Pleural effusion offers a minimally invasive alternative for obtaining specimens for molecular analysis.
• This study evaluates the utility of pleural effusion for molecular profiling in NSCLC.

Purpose of the Study:

• To assess the diagnostic performance of pleural effusion for molecular analysis in NSCLC.
• To determine the concordance of mutation status between pleural effusion and biopsy specimens.
• To evaluate the potential of pleural effusion for enabling targeted therapy in NSCLC.

Main Methods:

• Paired malignant pleural effusion and thoracic biopsy specimens from 30 NSCLC patients were analyzed.
• Targeted next-generation sequencing (NGS) was used to identify clinically actionable mutations.
• E.G.F.R./K.R.A.S./A.L.K. mutation status was also assessed using ARMS PCR in biopsy specimens.

Main Results:

• A concordance rate of 86.7% was observed between ARMS and NGS analyses in biopsy and effusion samples.
• Pleural effusion demonstrated a sensitivity of 92.3% and a positive predictive value of 92.3% compared to biopsy.
• Actionable mutations can be detected in pleural effusion specimens even with low tumor cell percentages (<5%).

Conclusions:

• Pleural effusions are suitable specimens for oncogene mutation analysis in NSCLC.
• Molecular analysis of pleural effusions can facilitate targeted therapy selection for advanced NSCLC patients.
• This approach provides a valuable, less invasive option for molecular profiling.