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Alexander Drilon, MD

Gregory J. Riely, MD, PhD

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Prevalence of NTRK Gene Fusions in a Real-World Canadian Setting

By: Julia Fiederlein
Posted: Thursday, November 3, 2022

Harriet Feilotter, PhD, of Queen’s University, Kingston, Ontario, and colleagues conducted an observational study to investigate the prevalence of NTRK gene fusions in a real-world population of Canadian patients with solid tumors. Their results, which were published in the journal Molecular Diagnosis & Therapy, address a gap in the nation’s NTRK testing infrastructure.

“[Our] findings highlight the benefit and practicality of a diagnostic testing program to identify patients suitable for tumor-agnostic TRK inhibitor therapies, as well as other targeted therapies, due to clinically actionable incidental findings identified,” the investigators commented. “Collectively, [our] findings may inform future guidance on selecting the appropriate testing approach per tumor type and on optimal NTRK testing algorithms.”

Using data from a Canadian clinical diagnostic testing program, the investigators focused on 1,687 patients with solid tumors. Of this population, 12 (0.71%) were found to harbor NTRK gene fusions (salivary gland carcinoma: n = 3; soft-tissue sarcoma: n = 3; central nervous system [CNS] tumors: n = 3; melanoma: n = 1; lung cancer: n = 1; colorectal cancer: n = 1). All three salivary gland carcinomas were found to be ETV6::NTRK3 gene fusion–positive.

Clinically actionable incidental findings were detected in 13 samples (0.77%); of these samples, 2 were found to harbor NTRK gene fusions (GFOD1::NTRK2 and FGFR3::TACC3 co-occurring in a glioblastoma; AFAP1::NTRK2 and BRAF V600E co-occurring in a glioma). The investigators noted that most samples were screened via pan-TRK immunohistochemistry, whereas samples from the CNS, pathognomonic cancers, and confirmed/putative NTRK gene fusion–positive samples identified under research protocols were reflexed straight to next-generation sequencing.

Disclosure: For full disclosures of the study authors, visit link.springer.com.


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