Gene expression profiling identifies different sub-types of retinoblastoma

G. Kapatai, M. A. Brundler, H. Jenkinson, P. Kearns, M. Parulekar, A. C. Peet, C. M. McConville*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

43 Citations (Scopus)
632 Downloads (Pure)


Background:Mutation of the RB1 gene is necessary but not sufficient for the development of retinoblastoma. The nature of events occurring subsequent to RB1 mutation is unclear, as is the retinal cell-of-origin of this tumour.Methods:Gene expression profiling of 21 retinoblastomas was carried out to identify genetic events that contribute to tumorigenesis and to obtain information about tumour histogenesis.Results:Expression analysis showed a clear separation of retinoblastomas into two groups. Group 1 retinoblastomas express genes associated with a range of different retinal cell types, suggesting derivation from a retinal progenitor cell type. Recurrent chromosomal alterations typical of retinoblastoma, for example, chromosome 1q and 6p gain and 16q loss were also a feature of this group, and clinically they were characterised by an invasive pattern of tumour growth. In contrast, group 2 retinoblastomas were found to retain many characteristics of cone photoreceptor cells and appear to exploit the high metabolic capacity of this cell type in order to promote tumour proliferation.Conclusion:Retinoblastoma is a heterogeneous tumour with variable biology and clinical characteristics.

Original languageEnglish
Pages (from-to)512-525
Number of pages14
JournalBritish Journal of Cancer
Issue number2
Early online date11 Jun 2013
Publication statusPublished - 23 Jul 2013


  • Adult
  • Cluster Analysis
  • Comparative Genomic Hybridization
  • Cytogenetic Analysis
  • Gene Expression Profiling
  • Gene Expression Regulation, Neoplastic
  • Gene Regulatory Networks
  • Humans
  • Microarray Analysis
  • Models, Biological
  • Retina
  • Retinal Neoplasms
  • Retinoblastoma

ASJC Scopus subject areas

  • Medicine(all)


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