title: Molecular testing prognostic of low risk in epithelioid uveal melanoma in a child.
abstract: OBJECTIVE
  To characterise a histologically unusual paediatric uveal melanoma by gene expression and karyotypic profiling and assess prognosis.
  
  
  METHODS
  The tumour was studied by histopathology, karyotype analysis, single nucleotide polymorphism and gene expression profile analysis for correlation with clinical outcome.
  
  
  RESULTS
  The tumour had predominantly epithelioid histology. Karyotype analysis showed none of the poor prognosis features normally associated with uveal melanoma. single nucleotide polymorphism analysis revealed no imbalance at chromosome 3. Gene expression profiling indicated low risk disease.
  
  
  CONCLUSIONS
  We report a child remaining relapse-free 6 years after diagnosis of a very rare uveal melanoma, with poor prognosis epithelioid histology, but gene expression profiling that accurately predicted low risk disease.
authors.affiliation: Division of Hematology/ Oncology, The Hospital for Sick Children, Toronto, Ontario, Canada.
authors.forename: Helen
authors.initials: H
authors.lastname: Dimaras
authors.forename: Manoj Vijay
authors.initials: MV
authors.lastname: Parulekar
authors.forename: Grace
authors.initials: G
authors.lastname: Kwok
authors.forename: E Rand
authors.initials: ER
authors.lastname: Simpson
authors.forename: Asim
authors.initials: A
authors.lastname: Ali
authors.forename: William
authors.initials: W
authors.lastname: Halliday
authors.forename: Mary
authors.initials: M
authors.lastname: Shago
authors.forename: J William
authors.initials: JW
authors.lastname: Harbour
authors.forename: Elise
authors.initials: E
authors.lastname: Héon
authors.forename: Brenda L
authors.initials: BL
authors.lastname: Gallie
authors.forename: Helen S L
authors.initials: HS
authors.lastname: Chan
mesh_terms: D002675:Child, Preschool; D002893:Chromosomes, Human, Pair 3 / Q000737:chemistry*; D005260:Female; D020869:Gene Expression Profiling / Q000379:methods*; D015972:Gene Expression Regulation, Neoplastic; D006801:Humans; D008545:Melanoma / Q000175:diagnosis* / Q000235:genetics / Q000378:metabolism; D020641:Polymorphism, Single Nucleotide; D011379:Prognosis; D015203:Reproducibility of Results; D014604:Uveal Neoplasms / Q000175:diagnosis* / Q000235:genetics / Q000378:metabolism; D000098943:Uveal Melanoma