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 journalArticle

3 Citations (Scopus)

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.

Original languageEnglish
Pages (from-to)323-326
Number of pages4
JournalBritish Journal of Ophthalmology
Volume97
Issue number3
DOIs
StatePublished - Mar 1 2013
Externally publishedYes

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Gene Expression Profiling
Karyotype
Single Nucleotide Polymorphism
Histology
Chromosomes, Human, Pair 3
Transcriptome
Neoplasms
Pediatrics
Recurrence
Uveal melanoma

ASJC Scopus subject areas

  • Ophthalmology
  • Sensory Systems
  • Cellular and Molecular Neuroscience

Cite this

Dimaras, H., Parulekar, M. V., Kwok, G., Simpson, E. R., Ali, A., Halliday, W., ... Chan, H. S. L. (2013). Molecular testing prognostic of low risk in epithelioid uveal melanoma in a child. British Journal of Ophthalmology, 97(3), 323-326. https://doi.org/10.1136/bjophthalmol-2012-302561

Molecular testing prognostic of low risk in epithelioid uveal melanoma in a child. / Dimaras, Helen; Parulekar, Manoj Vijay; Kwok, Grace; Simpson, E. Rand; Ali, Asim; Halliday, William; Shago, Mary; William Harbour, J.; Héon, Elise; Gallie, Brenda L.; Chan, Helen S L.

In: British Journal of Ophthalmology, Vol. 97, No. 3, 01.03.2013, p. 323-326.

Research output: Contribution to journalArticle

Dimaras, H, Parulekar, MV, Kwok, G, Simpson, ER, Ali, A, Halliday, W, Shago, M, William Harbour, J, Héon, E, Gallie, BL & Chan, HSL 2013, 'Molecular testing prognostic of low risk in epithelioid uveal melanoma in a child', British Journal of Ophthalmology, vol. 97, no. 3, pp. 323-326. https://doi.org/10.1136/bjophthalmol-2012-302561
Dimaras, Helen ; Parulekar, Manoj Vijay ; Kwok, Grace ; Simpson, E. Rand ; Ali, Asim ; Halliday, William ; Shago, Mary ; William Harbour, J. ; Héon, Elise ; Gallie, Brenda L. ; Chan, Helen S L. / Molecular testing prognostic of low risk in epithelioid uveal melanoma in a child. In: British Journal of Ophthalmology. 2013 ; Vol. 97, No. 3. pp. 323-326.
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