A 64-year-old non-smoker with EGFR-mutant non-small cell lung cancer (NSCLC) who developed leptomeningeal metastasis despite multiple lines of targeted therapy. While conventional plasma testing failed to identify actionable alterations, CSF-based molecular profiling uncovered dual actionable driverspersistent EGFR exon 19 deletion and high-level ERBB2 amplification leading to a change in treatment that achieved radiographic resolution and durable intracranial disease control.
The case demonstrates the critical value of compartment-matched CSF sequencing in uncovering clinically relevant genomic alterations that may be missed in blood, enabling more precise therapeutic decisions and improved management of CNS disease. Download the full case study to explore the complete clinical timeline, genomic findings, and how serial CSF testing guided every treatment decision.
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