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Updated: May 8, 2026

Oncogenic Gene Fusion Detection Using Anchored Multiplex Polymerase Chain Reaction Followed by Next Generation Sequencing
Published on: July 5, 2019
NTRK Gene Fusions: A Compendium of Fusion Partners and Tumor Types
Soo-Ryum Yang1, Matteo Repetto1,2, Erin R Rudzinski3
1Memorial Sloan Kettering Cancer Center, New York, NY.
Purpose:
NTRK gene fusions are oncogenic drivers for a variety of adult and pediatric tumors, making them a target for tumor-agnostic precision medicine. Tropomyosin receptor kinase (TRK) inhibitors are approved by the US Food and Drug Administration for cancers driven by TRK fusions. However, NTRK genes can fuse with many different partner genes, leading to diverse TRK fusion proteins, highlighting the importance of identifying the specific fusion partner with optimal pan-cancer diagnostics. This analysis aims to provide an updated descriptive compendium of NTRK gene fusions.
Methods:
NTRK gene fusions were identified via literature searches (PubMed), a search of a clinical trials database (larotrectinib), and searches of two genomic databases (Memorial Sloan Kettering and Children's Hospital of Philadelphia).
Results:
In total, 358 distinct NTRK gene fusion-tumor pairings were identified across 25 tumor types. Primary CNS tumors were observed to harbor 86 distinct NTRK gene fusions, followed by sarcomas (n = 73). Overall, 229 different fusion partners were identified across tumor types (regardless of NTRK gene). Twenty-three fusion partners were found to fuse with >1 NTRK gene across tumor types, while 183 fusion partners were associated with only a single NTRK gene in one tumor type. ETV6::NTRK3 was found in the highest number of different tumor types.
Conclusion:
This analysis illustrates the diversity of NTRK gene fusion partners across various tumor types and highlights the importance of selecting a pan-tumor fusion-partner agnostic test that can identify both known and novel fusion partners to identify patients who may benefit from treatment with TRK inhibitors.
Insights
NTRK gene fusions drive various cancers and are targets for precision medicine. This study identified 358 NTRK gene fusion-tumor pairings across 25 tumor types, emphasizing the need for broad diagnostic tests.
Area of Science:
- Oncology
- Genetics
- Precision Medicine
Background:
- NTRK gene fusions are key oncogenic drivers in diverse adult and pediatric tumors.
- Tropomyosin receptor kinase (TRK) inhibitors are FDA-approved for TRK fusion-driven cancers.
- Identifying specific NTRK fusion partners is crucial for effective pan-cancer diagnostics and treatment.
Purpose of the Study:
- To provide an updated descriptive compendium of NTRK gene fusions.
- To highlight the diversity of NTRK gene fusion partners across tumor types.
- To underscore the importance of pan-tumor, fusion-partner agnostic testing.
Main Methods:
- Literature searches of PubMed.
- Searches of a clinical trials database (larotrectinib).
- Searches of genomic databases (Memorial Sloan Kettering, Children's Hospital of Philadelphia).
Main Results:
- 358 distinct NTRK gene fusion-tumor pairings identified across 25 tumor types.
- Primary CNS tumors (86 fusions) and sarcomas (73 fusions) showed high NTRK fusion prevalence.
- 229 unique fusion partners were identified, with ETV6::NTRK3 found in the most tumor types.
Conclusions:
- NTRK gene fusions exhibit significant diversity in partners across various cancers.
- Pan-tumor fusion-partner agnostic tests are essential for identifying patients eligible for TRK inhibitor therapy.
- Comprehensive identification of known and novel fusion partners is critical for precision oncology.
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