title: Identification of NTRK fusions in pediatric mesenchymal tumors.
abstract: BACKGROUND
  NTRK fusions are known oncogenic drivers and have recently been effectively targeted by investigational agents in adults. We sought to assess the frequency of NTRK fusions in a large series of pediatric and adolescent patients with advanced cancers.
  
  
  METHODS
  Genomic profiles from 2,031 advanced cancers from patients less than 21 years old who were assayed with comprehensive genomic profiling were reviewed to identify NTRK fusions.
  
  
  RESULTS
  Total of nine cases (0.44%) harbored NTRK fusions, including novel partners. Four of these cases were in children less than 2 years old for which infantile fibrosarcoma was considered as a diagnosis, and two harbored the canonical ETV6-NTRK3. The remaining cases carried other diagnoses, at least one that carried the diagnosis of inflammatory myofibroblastic tumor.
  
  
  CONCLUSIONS
  NTRK fusions occur in a subset of young patients with mesenchymal or sarcoma-like tumors at a low frequency, and are eminently druggable targets via either investigational agents or approved drugs.
authors.affiliation: Foundation Medicine, Inc., Cambridge, Massachusetts.
authors.forename: Dean
authors.initials: D
authors.lastname: Pavlick
authors.affiliation: Foundation Medicine, Inc., Cambridge, Massachusetts.
authors.forename: Alexa B
authors.initials: AB
authors.lastname: Schrock
authors.affiliation: Department of Pathology, University of California San Diego School of Medicine, La Jolla, California.|Department of Pathology, Rady Children's Hospital San Diego, San Diego, California.
authors.forename: Denise
authors.initials: D
authors.lastname: Malicki
authors.affiliation: Foundation Medicine, Inc., Cambridge, Massachusetts.
authors.forename: Philip J
authors.initials: PJ
authors.lastname: Stephens
authors.affiliation: Division of Pediatric Hematology/Oncology, Rady Children's Hospital San Diego, San Diego, California.
authors.forename: Dennis J
authors.initials: DJ
authors.lastname: Kuo
authors.affiliation: Division of Pediatric Hematology/Oncology, Rady Children's Hospital San Diego, San Diego, California.
authors.forename: Hyunah
authors.initials: H
authors.lastname: Ahn
authors.affiliation: Division of Pediatric Hematology/Oncology, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio.
authors.forename: Brian
authors.initials: B
authors.lastname: Turpin
authors.affiliation: Foundation Medicine, Inc., Cambridge, Massachusetts.
authors.forename: Justin M
authors.initials: JM
authors.lastname: Allen
authors.affiliation: Foundation Medicine, Inc., Cambridge, Massachusetts.
authors.forename: Mark
authors.initials: M
authors.lastname: Rosenzweig
authors.affiliation: Department of Pathology, Nemours Children's Hospital, Orlando, Florida.
authors.forename: Kamran
authors.initials: K
authors.lastname: Badizadegan
authors.affiliation: Foundation Medicine, Inc., Cambridge, Massachusetts.|Department of Pathology, Albany Medical Center, Albany, New York.
authors.forename: Jeffrey S
authors.initials: JS
authors.lastname: Ross
authors.affiliation: Foundation Medicine, Inc., Cambridge, Massachusetts.
authors.forename: Vincent A
authors.initials: VA
authors.lastname: Miller
authors.affiliation: Division of Pediatric Hematology/Oncology, Rady Children's Hospital San Diego, San Diego, California.
authors.forename: Victor
authors.initials: V
authors.lastname: Wong
authors.affiliation: Foundation Medicine, Inc., Cambridge, Massachusetts.
authors.forename: Siraj M
authors.initials: SM
authors.lastname: Ali
mesh_terms: D000293:Adolescent; D002675:Child, Preschool; D000070820:Discoidin Domain Receptor 2 / Q000235:genetics*; D005260:Female; D020869:Gene Expression Profiling; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D015514:Oncogene Proteins, Fusion / Q000235:genetics*; D020917:Receptor, trkA / Q000235:genetics*; D012983:Soft Tissue Neoplasms / Q000235:genetics*; D055815:Young Adult
chemical_list: D015514:Oncogene Proteins, Fusion; C000603239:DDR2 protein, human; D000070820:Discoidin Domain Receptor 2; D020917:Receptor, trkA
keywords: IFS; IMT; NTRK1-3; kinase fusion; mesoblastic nephroma; sarcoma