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Updated: Mar 8, 2026
Oncogenic Gene Fusion Detection Using Anchored Multiplex Polymerase Chain Reaction Followed by Next Generation Sequencing
Published on: July 5, 2019
Identification of NTRK fusions in pediatric mesenchymal tumors
Dean Pavlick1, Alexa B Schrock1, Denise Malicki2,3
1Foundation Medicine, Inc., Cambridge, Massachusetts.
Background:
NTRK fusions are known oncogenic drivers and have recently been effectively targeted by investigational agents in adults. We sought to assess the frequency of NTRK fusions in a large series of pediatric and adolescent patients with advanced cancers.
Procedure:
Genomic profiles from 2,031 advanced cancers from patients less than 21 years old who were assayed with comprehensive genomic profiling were reviewed to identify NTRK fusions.
Results:
Total of nine cases (0.44%) harbored NTRK fusions, including novel partners. Four of these cases were in children less than 2 years old for which infantile fibrosarcoma was considered as a diagnosis, and two harbored the canonical ETV6-NTRK3. The remaining cases carried other diagnoses, at least one that carried the diagnosis of inflammatory myofibroblastic tumor.
Conclusions:
NTRK fusions occur in a subset of young patients with mesenchymal or sarcoma-like tumors at a low frequency, and are eminently druggable targets via either investigational agents or approved drugs.
Insights
Neurotrophic tyrosine receptor kinase (NTRK) fusions occur in 0.44% of advanced pediatric cancers. These NTRK fusions represent druggable targets in young patients with mesenchymal or sarcoma-like tumors.
Area of Science:
- Oncology
- Genetics
- Molecular Biology
Background:
- Neurotrophic tyrosine receptor kinase (NTRK) fusions are established oncogenic drivers.
- Targeted therapies for NTRK fusions have shown efficacy in adult cancer patients.
Purpose of the Study:
- To determine the frequency of NTRK fusions in a large cohort of pediatric and adolescent patients with advanced cancers.
- To identify potential therapeutic targets in young cancer patients.
Main Methods:
- Comprehensive genomic profiling was performed on 2,031 advanced cancer cases from patients under 21 years old.
- Genomic data was analyzed to identify instances of NTRK gene fusions.
Main Results:
- NTRK fusions were identified in nine cases (0.44%) of advanced pediatric cancers.
- Four fusions occurred in patients under 2 years old, with infantile fibrosarcoma as a potential diagnosis.
- Two cases involved the ETV6-NTRK3 fusion; other diagnoses included inflammatory myofibroblastic tumor.
Conclusions:
- NTRK fusions are present in a small subset of young patients with advanced mesenchymal or sarcoma-like tumors.
- These fusions represent highly targetable molecular alterations with existing or investigational therapies.
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