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Multidisciplinary consensus on optimising the detection of NTRK gene alterations in tumours
P Garrido1, R Hladun2, E de Álava3
1Sociedad Española de Oncología Médica (SEOM), Departamento de Oncología Médica, Hospital Universitario Ramón y Cajal, Universidad de Alcalá, IRYCIS, CIBERONC, Madrid, Spain. pilargarridol@gmail.com.
Abstract:
The recent identification of rearrangements of neurotrophic tyrosine receptor kinase (NTRK) genes and the development of specific fusion protein inhibitors, such as larotrectinib and entrectinib, have revolutionised the diagnostic and clinical management of patients presenting with tumours with these alterations. Tumours that harbour NTRK fusions are found in both adults and children; and they are either rare tumours with common NTRK fusions that may be diagnostic, or more prevalent tumours with rare NTRK fusions. To assess currently available evidence on this matter, three key Spanish medical societies (the Spanish Society of Medical Oncology (SEOM), the Spanish Society of Pathological Anatomy (SEAP), and the Spanish Society of Paediatric Haematology and Oncology (SEHOP) have brought together a group of experts to develop a consensus document that includes guidelines on the diagnostic, clinical, and therapeutic aspects of NTRK-fusion tumours. This document also discusses the challenges related to the routine detection of these genetic alterations in a mostly public Health Care System.
Insights
Neurotrophic tyrosine receptor kinase (NTRK) gene fusions are identified in adult and pediatric tumors. This consensus document provides guidelines for diagnosing and treating NTRK-fusion-positive cancers.
Area of Science:
- Oncology
- Genetics
- Molecular Biology
Background:
- Neurotrophic tyrosine receptor kinase (NTRK) gene rearrangements are increasingly recognized drivers in various adult and pediatric tumors.
- Targeted therapies, including larotrectinib and entrectinib, have transformed the management of NTRK fusion-positive malignancies.
- NTRK fusions can occur in rare tumor types with common fusions or prevalent tumor types with rare fusions.
Purpose of the Study:
- To develop a consensus document providing guidelines for the diagnostic, clinical, and therapeutic management of NTRK-fusion-positive tumors.
- To consolidate evidence and expert opinion from leading Spanish medical societies.
Main Methods:
- A multidisciplinary expert panel convened by the Spanish Society of Medical Oncology (SEOM), the Spanish Society of Pathological Anatomy (SEAP), and the Spanish Society of Pediatric Hematology and Oncology (SEHOP).
- Development of consensus-based guidelines covering diagnostic strategies, clinical presentation, and therapeutic interventions for NTRK-fusion-positive cancers.
- Discussion of challenges associated with routine genetic alteration detection within the Spanish public healthcare system.
Main Results:
- Established guidelines for the comprehensive management of NTRK-fusion-positive tumors.
- Highlighted the diagnostic and therapeutic significance of NTRK fusions across diverse tumor types.
- Identified key challenges in the widespread implementation of NTRK fusion testing.
Conclusions:
- NTRK gene fusions represent actionable targets in both adult and pediatric oncology.
- A multidisciplinary approach and standardized guidelines are crucial for optimal patient care.
- Addressing challenges in genetic testing is essential for equitable access to targeted therapies.
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