Next-Generation Sequencing (NGS)

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The need for robust sequencing technologies that can generate large data sets quickly and economically has given rise to high-throughput NGS platforms [1]. 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.

References

  1. Rizzo JM, Buck MJ. Key principles and clinical applications of "next-generation" DNA sequencing. Cancer Prev Res (Phila) 2012; 5: 887-900.
  2. Cocco E, Scaltriti M, Drilon A. NTRK fusion-positive cancers and TRK inhibitor therapy. Nat Rev Clin Oncol 2018; 15: 731-747.
  3. Penault-Llorca F, Rudzinski ER, Sepulveda AR. Testing algorithm for identification of patients with TRK fusion cancer. J Clin Pathol 2019.