High-throughput molecular genotyping for small biopsy samples in advanced non-small cell lung cancer patients.

Background: Despite the key role of mutational analysis in targeted therapy, the difficulty in acquisition of adequate tumor tissues for molecular genotyping in advanced non-small cell lung cancer (NSCLC) has led to the need for a fast and efficient method for detecting genetic alterations for targeted therapy. Patients and Methods: We analyzed tissue specimens of advanced NSCLC. A mass spectrometry-based assay was used to investigate 471 oncogenic mutations. All tumor specimens were prepared from fresh-frozen tissues. Results: In total, there were 59 hotspot mutations in 67% of the entire patient group (41 out of 61 patients). The most frequent mutation was in TP53 (n=24, 39.3%), followed by EFGR (n=19, 31.1%). Others included MLH1, KRAS, PIK3CA, ERBB2, ABL1 and HRAS. Conclusion: Our results suggest that molecular genotyping using high-throughput technology such as OncoMap v4 is feasible, even with small biopsied specimens from patients with advanced NSCLC.