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Clinical science
Molecular testing prognostic of low risk in epithelioid uveal melanoma in a child
  1. Helen Dimaras1,2,3,4,
  2. Manoj Vijay Parulekar5,6,
  3. Grace Kwok1,2,
  4. E Rand Simpson3,
  5. Asim Ali2,5,
  6. William Halliday7,
  7. Mary Shago8,
  8. J William Harbour9,
  9. Elise Héon5,
  10. Brenda L Gallie3,4,10,11,12,
  11. Helen S L Chan1,2
  1. 1Division of Hematology/Oncology, The Hospital for Sick Children, Toronto, Ontario, Canada
  2. 2Department of Paediatrics, The Hospital for Sick Children, Toronto, Ontario, Canada
  3. 3Department of Ophthalmology and Vision Sciences, University of Toronto, Toronto, Ontario, Canada
  4. 4The Divisions of Visual Science, University Health Network, University of Toronto, Toronto, Ontario, Canada
  5. 5Department of Ophthalmology and Vision Sciences, The Hospital for Sick Children, Toronto, Ontario, Canada
  6. 6Birmingham Children's Hospital, Birmingham, UK
  7. 7Department of Pathology, The Hospital for Sick Children, Toronto, Ontario, Canada
  8. 8Department of Cytogenetics, The Hospital for Sick Children, Toronto, Ontario, Canada
  9. 9Siteman Comprehensive Cancer Center, Washington University School of Medicine, St. Louis, Missouri, USA
  10. 10Department of Medical Biophysics, University of Toronto, Toronto, Ontario, Canada
  11. 11Department of Molecular Genetics, University of Toronto, Toronto, Ontario, Canada
  12. 12Applied Molecular Oncology, University Health Network, University of Toronto, Toronto, Ontario, Canada
  1. Correspondence to Dr Helen S L Chan, Division of Hematology/Oncology, Hospital for Sick Children, 555 University Avenue, Toronto, Ontario, Canada M5G 1X8; hslchan{at}attglobal.net

Abstract

Aims 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.

  • Child health (paediatrics)
  • Genetics
  • Neoplasia
  • Choroid
  • Ciliary body

https://doi.org/10.1136/bjophthalmol-2012-302561

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