An accurate DNA and RNA based targeted sequencing assay for clinical detection of gene fusions in solid tumors.

ABSTRACT: Gene fusions are one of the most important molecular biomarkers for tumor diagnosis, classification and targeted therapy. How to accurately detect them is a key issue in clinical work. In this study, a custom-designed integration of DNA and RNA-based next generation sequencing (NGS) assay including 16 targeted therapy related genes was developed and validated to identify gene fusions in solid tumors. This assay accurately identified all 10 different types of fusion in 8 commercial fusion spiked-in reference standards and 29 fusions including 16 different fusion forms in 60 clinical solid tumor samples previously identified by clinical testing methods. In addition, a TPM3::NTRK1 fusion was additionally identified and validated by Sanger sequencing, which showed a false-negative result for t

SUBMITTER: Ji G 

PROVIDER: S-EPMC11870997 | biostudies-literature | 2025 Feb

REPOSITORIES: biostudies-literature