Gene expression profiling identifies different sub-types of retinoblastoma
Research output: Contribution to journal › Article
Colleges, School and Institutes
- Department of Geriatric Medicine, Heart of England NHS Foundation Trust, Solihull Hospital, Birmingham, UK.
- Birmingham Children's Hospital
- Department of Oncology
- Department of Ophthalmology
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.
|Number of pages||14|
|Journal||British Journal of Cancer|
|Early online date||11 Jun 2013|
|Publication status||Published - 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