Clinical utility of comprehensive genomic profiling in thoracic malignancies beyond conventional gene testing

Comprehensive genomic profiling (CGP) can detect multiple cancer-related genomic alterations, but real-world utility data in patients with thoracic malignancy is limited, especially in patients with non-small cell lung cancer (NSCLC) who have previously undergone single-plex or multi-plex gene testing. This study aimed to determine the detection rate of druggable cancer genomic alterations leading to treatment recommendations in these patients.

This study is a single-center retrospective study. We analyzed the CGP data in 70 patients with thoracic malignancies, including 53 NSCLC, at the Department of Chest Surgery, Fukushima Medical University Hospital.

Druggable cancer genomic alterations were identified in 25% in patients with NSCLC (26% of all patients). Notably, CGP detected druggable cancer genomic alterations in 20% of patients with NSCLC with negative results in previous multi-plex gene testing and 47% of those with negative results in previous single-plex gene testing. Although CGP has clarified the mechanisms of resistance to TKIs, its clinical utility is currently limited. Liquid biopsy showed a low success rate in patients with metastases limited to the thoracic cavity or the central nervous system, but a high success rate in patients with extrathoracic lesions, especially those with bone metastases.

CGP identified druggable cancer genomic alterations in patients with NSCLC even when prior single- or multi-plex gene testing had yielded negative results. Multi-plex gene testing may be preferable to CGP for patients with NSCLC who have only undergone single-plex gene testing. Even after multi-plex gene testing, druggable cancer genomic alterations may still be identified.