Integrated biomarker testing expands lung cancer diagnostics with tissue NGS, ctDNA, and AI
The review outlines the evolving landscape of lung cancer biomarker testing, highlighting how tissue-based next-generation sequencing and immunohistochemistry remain foundational for detecting actionable mutations and PD-L1 expression. Circulating tumor DNA analysis is positioned as a minimally invasive tool for treatment monitoring and minimal residual disease assessment, though early-stage sensitivity remains a limitation. Investigators emphasize that workflow optimization through reflex testing, rapid assays, and molecular tumor boards is essential to reduce turnaround times. The integration of digital pathology and artificial intelligence is noted as a promising avenue for improving biomarker discovery and clinical interpretation.
The original study
Lung Cancer Biomarker Testing: IHC, Tissue Genomics, Digital Pathology, and ctDNA.
- Authors
- Trejo Bittar HE, Dacic SE
- Journal
- Cancer journal (Sudbury, Mass.)
- Type
- Journal Article, Review
- PMID
- 42497395
Original abstract
Testing for predictive biomarkers in lung cancer has evolved to integrate immunohistochemistry, tissue-based next-generation sequencing (NGS), and liquid biopsy. Tissue-based NGS remains the foundation for comprehensive genomic profiling, enabling detection of actionable mutations and guiding personalized therapies. RNA-based assays complement DNA testing by improving fusion detection. Liquid biopsy using circulating tumor DNA (ctDNA) offers a minimally invasive alternative for genotyping, monitoring treatment response, and assessing minimal residual disease, though sensitivity challenges persist in early-stage disease. Immunohistochemistry for PD-L1 and emerging antibody-drug conjugate targets further expands therapeutic options. Workflow optimization, including molecular tumor boards, reflex testing, and rapid assays, is critical to reduce turnaround times. Lastly, advances in digital pathology and AI promise novel biomarker discovery and integration into clinical practice, ensuring accurate interpretation and personalized treatment strategies in the rapidly evolving field of lung cancer personalized oncology.