The need for robust sequencing technologies that can generate large data sets quickly and economically has given rise to high-throughput NGS platforms . The clinical detection of NTRK gene fusions has predominantly utilised DNA- or RNA-based NGS [2, 3]. While this approach has been generally effective, selection of NGS platforms is critical as not all assays are optimised to detect all NTRK 1/2/3 gene fusions.
A number of NGS testing panels have been developed with newer panels able to detect additional NTRK gene fusions versus older panels. This is important as older DNA-based panels can potentially miss identifying patients harbouring NTRK gene fusions if the introns of the NTRK1-3 kinase domains are not included in the panel.
An overview of DNA- and RNA-based NGS, including anchor multiplex PCR (AMP), and their applications in NTRK gene fusion testing can be found by clicking on each method below.
- Rizzo JM, Buck MJ. Key principles and clinical applications of "next-generation" DNA sequencing. Cancer Prev Res (Phila) 2012; 5: 887-900.
- Cocco E, Scaltriti M, Drilon A. NTRK fusion-positive cancers and TRK inhibitor therapy. Nat Rev Clin Oncol 2018; 15: 731-747.
- Penault-Llorca F, Rudzinski ER, Sepulveda AR. Testing algorithm for identification of patients with TRK fusion cancer. J Clin Pathol 2019.