Consensus Recommendations to Optimize the Detection and Reporting of NTRK Gene Fusions by RNA-Based Next-Generation Sequencing

The detection of gene fusions by RNA-based next-generation sequencing (NGS) is an emerging method in clinical genetic laboratories for oncology biomarker testing to direct targeted therapy selections. A recent Canadian study (CANTRK study) comparing the detection of NTRK gene fusions on different NG...

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Detalles Bibliográficos
Autores principales: Stockley, Tracy L., Lo, Bryan, Box, Adrian, Gomez Corredor, Andrea, DeCoteau, John, Desmeules, Patrice, Feilotter, Harriet, Grafodatskaya, Daria, Hawkins, Cynthia, Huang, Weei Yuarn, Izevbaye, Iyare, Lepine, Guylaine, Papadakis, Andreas I., Park, Paul C., Sheffield, Brandon S., Tran-Thanh, Danh, Yip, Stephen, Sound Tsao, Ming
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10136625/
https://www.ncbi.nlm.nih.gov/pubmed/37185415
http://dx.doi.org/10.3390/curroncol30040302
Descripción
Sumario:The detection of gene fusions by RNA-based next-generation sequencing (NGS) is an emerging method in clinical genetic laboratories for oncology biomarker testing to direct targeted therapy selections. A recent Canadian study (CANTRK study) comparing the detection of NTRK gene fusions on different NGS assays to determine subjects’ eligibility for tyrosine kinase TRK inhibitor therapy identified the need for recommendations for best practices for laboratory testing to optimize RNA-based NGS gene fusion detection. To develop consensus recommendations, representatives from 17 Canadian genetic laboratories participated in working group discussions and the completion of survey questions about RNA-based NGS. Consensus recommendations are presented for pre-analytic, analytic and reporting aspects of gene fusion detection by RNA-based NGS.

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