[How to test for NTRK gene fusions: A practical approach for pathologists]
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Updated: Nov 9, 2025

Oncogenic Gene Fusion Detection Using Anchored Multiplex Polymerase Chain Reaction Followed by Next Generation Sequencing
Published on: July 5, 2019
Arnaud Uguen1, Marie Csanyi-Bastien2, Jean-Christophe Sabourin2
1Inserm, CHU de Brest, LBAI, UMR1227, Université Brest, 29200 Brest, France; Service d'anatomie et cytologie pathologiques, CHRU Brest, 29200 Brest, France.
Abstract:
The recent availability of targeted anti-TRK therapies represents a new opportunity to treat patients with advanced cancers harboring NTRK gene fusions. In this article, we present an update on the practical modalities of implementing a "NTRK testing" to search for these fusions in view of the performances and availability of the different testing methods and the epidemiological characteristics of the tumors liable to present the NTRK1, NTRK2 or NTRK3 gene fusions.
Insights
Targeted anti-TRK therapies offer new treatment options for advanced cancers with NTRK gene fusions. This article reviews practical NTRK testing methods and tumor characteristics for identifying these fusions.
Area of Science:
- Oncology
- Molecular Diagnostics
- Genetics
Background:
- Advanced cancers can harbor NTRK gene fusions, driving tumor growth.
- Targeted therapies against TRK proteins are now available for these specific cancers.
- Identifying NTRK gene fusions is crucial for patient selection.
Purpose of the Study:
- To provide an update on implementing NTRK testing for advanced cancers.
- To evaluate different testing methods for NTRK gene fusions.
- To consider tumor epidemiology in relation to NTRK gene fusions.
Main Methods:
- Review of current NTRK testing modalities.
- Analysis of test performance and availability.
- Consideration of epidemiological data for NTRK1, NTRK2, and NTRK3 fusions.
Main Results:
- Practical considerations for NTRK testing implementation are discussed.
- Performance and availability of various testing methods are compared.
- Epidemiological characteristics of NTRK-fusion-positive tumors are highlighted.
Conclusions:
- Effective NTRK testing is essential for leveraging anti-TRK therapies.
- Choosing the right testing method depends on performance, availability, and tumor type.
- Understanding tumor epidemiology aids in identifying patients who may benefit from NTRK testing.
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