Biomarker NTRK Coverage from Every Angle
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How Common Are NTRK Fusions in Bone Tumors in Pediatric Patients?

By: Joseph Fanelli
Posted: Thursday, September 16, 2021

Neurotrophic tyrosine receptor kinase (NTRK) fusions are more frequent in tumors in pediatric patients than in adult patients and involve a broader panel of fusion partners and a wider range of tumors than previously recognized, according to findings presented in JCO Precision Oncology. Marilyn M. Li, MD, of the University of Pennsylvania, Philadelphia, and colleagues concluded that these results stress the importance of screening for NTRK fusions as part of the tumor genomic profiling in pediatric patients with cancer.

“The identification of these NTRK fusions has facilitated precision cancer diagnosis and TRK inhibitor–targeted therapy,” the authors noted. “Our experience highlights the clinical utility of screening NTRK fusions for all pediatric tumors.”

In this trial, the authors analyzed 1,347 consecutive pediatric tumors from 1,217 patients who had tumor genomic profiling using custom-designed DNA and RNA next-generation sequencing panels. The NTRK fusions identified were orthogonally confirmed.

The authors identified 29 tumors from 27 patients, for a positive yield of 2.22% for all patients and a 3.08% yield for solid tumors. NTRK2 fusions were discovered exclusively in central nervous system tumors, whereas NTRK1 fusions were highly enriched in papillary thyroid carcinomas. NTRK3 fusions were identified in all tumor categories.

The most canonical fusion was ETV6-NTRK3, which was found in 10 patients with a diverse range of tumors. Several novel NTRK fusions were found in rare tumor types, including KCTD16-NTRK1 in ganglioglioma and IRF2BP2-NTRK3 in papillary thyroid carcinomas. The detection of NTRK fusion confirmed the morphologic diagnosis, including in five cases in which the final tumor diagnosis was largely based on the discovery of an NTRK fusion.

Disclosure: For a full disclosure of the study authors, visit ascopubs.org.



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