DNA and RNA-based next-generation sequencing for companion diagnostic rearrangement detection in solid tumors.

ABSTRACT:

Background

While a well-designed next-generation sequencing-based DNA (DNA-NGS) comprehensive genomic profiling assay can be robust for detecting genomic rearrangements (RE), concurrent RNA-based NGS (RNA-NGS) may improve overall sensitivity.

Patients & methods

We examined detection rates of tissue sequencing-based companion diagnostic (CDx) RE (ALK, BRAF, FGFR2/3, METEx14, NTRK1/2/3, NRG1, RET, and ROS1) in a retrospective cohort of 5129 patients who received DNA- and RNA-NGS in parallel in order to quantify the added value of concurrent DNA- and RNA-NGS over DNA-NGS alone.

Results

The prevalence of CDx gene RE was 3.3% (N = 171) across solid tumors and 2.0% (N = 101) within approved tumor types (ITT) across both DNA and RNA. 20% of CDx RE ITT and 26% of CDx gene RE

SUBMITTER: Keller-Evans RB 

PROVIDER: S-EPMC12923117 | biostudies-literature | 2026 Feb

REPOSITORIES: biostudies-literature