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Gene expression profiling identifies different sub-types of retinoblastoma

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...

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Autores principales: Kapatai, G, Brundler, M-A, Jenkinson, H, Kearns, P, Parulekar, M, Peet, A C, McConville, C M
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2013
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3721394/
https://www.ncbi.nlm.nih.gov/pubmed/23756868
http://dx.doi.org/10.1038/bjc.2013.283
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author Kapatai, G
Brundler, M-A
Jenkinson, H
Kearns, P
Parulekar, M
Peet, A C
McConville, C M
author_facet Kapatai, G
Brundler, M-A
Jenkinson, H
Kearns, P
Parulekar, M
Peet, A C
McConville, C M
author_sort Kapatai, G
collection PubMed
description 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.
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spelling pubmed-37213942014-07-23 Gene expression profiling identifies different sub-types of retinoblastoma Kapatai, G Brundler, M-A Jenkinson, H Kearns, P Parulekar, M Peet, A C McConville, C M Br J Cancer Genetics and Genomics 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. Nature Publishing Group 2013-07-23 2013-06-11 /pmc/articles/PMC3721394/ /pubmed/23756868 http://dx.doi.org/10.1038/bjc.2013.283 Text en Copyright © 2013 Cancer Research UK http://creativecommons.org/licenses/by-nc-sa/3.0/ From twelve months after its original publication, this work is licensed under the Creative Commons Attribution-NonCommercial-Share Alike 3.0 Unported License. To view a copy of this license, visit http://creativecommons.org/licenses/by-nc-sa/3.0/
spellingShingle Genetics and Genomics
Kapatai, G
Brundler, M-A
Jenkinson, H
Kearns, P
Parulekar, M
Peet, A C
McConville, C M
Gene expression profiling identifies different sub-types of retinoblastoma
title Gene expression profiling identifies different sub-types of retinoblastoma
title_full Gene expression profiling identifies different sub-types of retinoblastoma
title_fullStr Gene expression profiling identifies different sub-types of retinoblastoma
title_full_unstemmed Gene expression profiling identifies different sub-types of retinoblastoma
title_short Gene expression profiling identifies different sub-types of retinoblastoma
title_sort gene expression profiling identifies different sub-types of retinoblastoma
topic Genetics and Genomics
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3721394/
https://www.ncbi.nlm.nih.gov/pubmed/23756868
http://dx.doi.org/10.1038/bjc.2013.283
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