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Alexander Drilon, MD
Gregory J. Riely, MD, PhD
Alexander Drilon, MD
Gregory J. Riely, MD, PhD
Posted: Friday, January 27, 2023
Researchers are attempting to optimize and standardize the detection of NTRK fusion–related cancers across laboratories and equipment in Canada, according to an article published in the Journal of Molecular Diagnostics. Tracy L. Stockley, PhD, of the University of Toronto, and colleagues noted that competency in the detection of NTRK fusions in this study will allow them to establish a set of guidelines for analysis and reporting of fusions detected by next-generation sequencing methods.
“Except for large referral centers or commercial laboratories, most institutional laboratories adopt one next-[generation] sequencing platform and one or a small number of commercial targeted panels to validate and use in their routine clinical work,” the investigators said.
The authors recruited 16 diagnostic laboratories from seven provinces across Canada as testing sites for the study. All laboratories were provided with four commercially available NTRK gene fusions as control samples. A total of 12 patient tumor samples with confirmed NTRK1, NTRK2, or NTRK3 gene fusions, along with fusions of ALK and ROS1, were used as experimental conditions. The laboratories combined validated protocols for next-generation sequencing with Amplicon Panel Library to optimize and standardize fusion protein detection.
The authors reported that all labs were able to detect 6 of 11 NTRK fusions and both controls. Due to the absence of WNK and STRN3 in the Oncomine Comprehensive and Focus panels, 10 labs were unable to detect the associated NTRK fusions. Furthermore, the group reported difficulties in detecting TPM3 and LMNA fusions on the AmpliSeq for Illumina Focus panel because of bioinformatic issues. Laboratories were successful in detecting all fusions from three panels, including FusionPlex Lung, Oncomine Precision, and QIAseq Multimodal Lung.
Disclosure: For full disclosures of the study authors, visit www.jmdjournal.org.
The Journal of Molecular Diagnostics
