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Detection of Rare Mutations in CtDNA Using Next Generation Sequencing
Published on: August 24, 2017
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Resectable Non-Small Cell Lung Cancer Heterogeneity and Recurrence Assessed by Tissue Next-Generation Sequencing
Abel Garcia-Diaz1, María José Moyano-Rodríguez2, María Del Carmen Garrido-Navas1
1GENYO Centre for Genomics and Oncological Research: Pfizer, University of Granada, Andalusian Regional Government, Liquid Biopsy and Cancer Interception Group, Granada, Spain.
Archivos De Bronconeumologia
|October 16, 2024
Summary
High EZH2 expression in circulating tumor cells (CTCs) indicates a higher risk of death in non-small cell lung cancer (NSCLC) patients. Combining tumor molecular profiling with CTC analysis improves patient stratification for NSCLC.
Area of Science:
- Oncology
- Molecular Biology
- Genetics
Background:
- Non-small cell lung cancer (NSCLC) has a high relapse rate post-surgery.
- Circulating tumor cells (CTCs) and next-generation sequencing (NGS) aid in identifying heterogeneity and guiding treatment.
- EZH2 expression on CTCs and tumor mutation profiles are investigated for prognostic value.
Purpose of the Study:
- To characterize EZH2 expression on CTCs before and after resection in NSCLC patients.
- To analyze tumor mutation profiles using a customized gene panel.
- To associate CTC phenotype and tumor genotype with patient outcomes.
Main Methods:
- Isolation and characterization of EZH2 on CTCs at two time points (pre- and post-surgery).
- Targeted NGS using a 50-gene panel on tissue samples from resectable NSCLC patients.
- Statistical analysis to correlate CTC findings and mutation data with survival.
Main Results:
- TP53, FLT1, MUC5AC, EGFR, and NLRP3 were the most frequently mutated genes.
- Identified mutually exclusive and co-occurring gene mutations.
- CTCs significantly decreased post-surgery (p<0.0001).
- High EZH2 expression on CTCs correlated with an 87% increased risk of death (p=0.018).
Conclusions:
- Integrating tumor molecular profiling and CTC characterization offers valuable insights.
- This approach can improve patient stratification for resectable NSCLC.
- Phenotypic characterization of CTCs, specifically EZH2 expression, is a significant prognostic indicator.
