NTRK Fusions Identified in Pediatric Tumors: The Frequency, Fusion Partners, and Clinical Outcome

• DOI: 10.1200/po.20.00250
• Publication Date: 2021-01-14T20:59:29Z
• Authors: Xiaonan Zhao; Chelsea Kotch; Elizabeth Fox; Lea F. Surrey; Gerald B. Wertheim; Zubair W. Baloch; Fumin Lin; Vinodh Pillai; Minjie Luo; Portia A. Kreiger; Jennifer E. Pogor...; Rebecca L. Linn; Pierre A. Russo; Mariarita Santi; Adam C. Resnick; Phillip B. Storm; Stephen P. Hunger; Andrew J. Bauer; Marilyn M. Li
• Keywords: ETV6

Neurotrophic tyrosine receptor kinase (NTRK) fusions have been described as oncogenic drivers in a variety of tumors. However, little is known about the overall frequency NTRK fusion unselected pediatric Here, we assessed frequency, partners, and clinical course patients with fusion-positive tumors.We studied 1,347 consecutive tumors from 1,217 who underwent tumor genomic profiling using custom-designed DNA RNA next-generation sequencing panels. identified were orthogonally confirmed.NTRK 29 27 positive yield 2.22% for all 3.08% solid Although NTRK2 found exclusively CNS NTRK1 highly enriched papillary thyroid carcinomas, NTRK3 categories. The most canonical was ETV6-NTRK3 observed 10 diverse types Several novel rare types, including KCTD16-NTRK1 ganglioglioma IRF2BP2-NTRK3 carcinomas. detection an confirmed morphologic diagnosis five cases where final largely based on discovery fusion. In one patient, changed because identification One patient infantile fibrosarcoma treated larotrectinib achieved complete pathologic remission.NTRK are more frequently seen than adult involve broader panel partners wider range previously recognized. These results highlight importance screening part cancer.