Molecular testing prognostic of low risk in epithelioid uveal melanoma in a child

Helen Dimaras, Manoj Vijay Parulekar, Grace Kwok, E. Rand Simpson, Asim Ali, William Halliday, Mary Shago, J. William Harbour, Elise Héon, Brenda L. Gallie, Helen S.L. Chan

Research output: Contribution to journalArticlepeer-review

4 Scopus citations


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.

Original languageEnglish (US)
Pages (from-to)323-326
Number of pages4
JournalBritish Journal of Ophthalmology
Issue number3
StatePublished - Mar 2013
Externally publishedYes

ASJC Scopus subject areas

  • Ophthalmology
  • Sensory Systems
  • Cellular and Molecular Neuroscience


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