title: Clinical and molecular characteristics of pediatric gastrointestinal stromal tumors (GISTs).
abstract: BACKGROUND
  To describe the clinical characteristics, molecular features, treatment, and outcome of six pediatric patients with gastrointestinal stromal tumors (GISTs).
  
  
  METHODS
  Retrospective clinical review of GISTs, seen at The Hospital for Sick Children (HSC) Toronto, over an 11-year period. All specimens were stained for the CD 117 and CD 34 antigens. Three specimens were sequenced for mutations in exons 9, 11, and 13 of the c-kit gene.
  
  
  RESULTS
  Five patients were evaluated and treated at HSC and one was referred for histopathological consultation only. The median patient age at diagnosis was 13.6 years, (6.9-14.8 years); four were female. All patients presented with anemia secondary to gastrointestinal (GI) bleeding. The disease was localized in five patients and two had other malignancies consistent with the diagnoses of Carney's triad. Immunohistochemical staining for CD 117 and CD 34 showed heavy cytoplasmic localization in all of the tumor cells. A novel point mutation of KIT in codon 456 of exon 9 was found in one case. Complete surgical resection was achieved in the five patients managed at our center and none received adjuvant therapies. Disease recurred locally in one patient. Four patients are alive and one is lost to follow-up.
  
  
  CONCLUSIONS
  In children and adolescents, GISTs should be considered in the differential diagnosis of anemia secondary to GI hemorrhage. The absence of an exon 11 mutation and the identification of a novel mutation in exon 9 suggest that pediatric GISTs may respond differently to currently available targeted therapies and therefore should be studied within the context of collaborative group trials.
authors.affiliation: Department of Pediatrics, Division of Hematology/Oncology, The Hospital for Sick Children, University of Toronto, Toronto.
authors.forename: Victoria E
authors.initials: VE
authors.lastname: Price
authors.forename: Maria
authors.initials: M
authors.lastname: Zielenska
authors.forename: Susan
authors.initials: S
authors.lastname: Chilton-MacNeill
authors.forename: Charles R
authors.initials: CR
authors.lastname: Smith
authors.forename: Alberto S
authors.initials: AS
authors.lastname: Pappo
mesh_terms: D000293:Adolescent; D018798:Anemia, Iron-Deficiency / Q000209:etiology; D002648:Child; D005260:Female; D006471:Gastrointestinal Hemorrhage / Q000209:etiology; D046152:Gastrointestinal Stromal Tumors / Q000150:complications / Q000235:genetics* / Q000473:pathology*; D006801:Humans; D008297:Male; D017354:Point Mutation; D019009:Proto-Oncogene Proteins c-kit / Q000235:genetics*; D012189:Retrospective Studies
chemical_list: D019009:Proto-Oncogene Proteins c-kit