Validation study reveals significant discrepancies in gene fusion detection between DNA and RNA in tumor cases, suggesting improved diagnostic approaches.
Key Points
This research aims to investigate the discrepancies between DNA-level complex fusions and their corresponding RNA expressions in solid tumors.
Analyzed 115 tumor samples from the Chinese population using DNA-NGS for complex fusions.
Simultaneous DNA and RNA-NGS (DR-NGS) was utilized to validate the presence of fusions.
Excluded 7 samples with inadequate pathology quality control from analysis.
Lung cancer represented 77.4% of the samples, with various complex fusion patterns identified.
45 out of 108 tested cases showed no fusions by DR-NGS but revealed other driver mutations in 57.78% of these cases.
RNA validation confirmed 63 cases with fusions, showing predominantly classic single transcript forms and rare co-existing mutations.