Retinoblastoma

Helen Dimaras, Timothy Corson, David Cobrinik, Abby White, Junyang Zhao, Francis L. Munier, David H. Abramson, Carol L. Shields, Guillermo L. Chantada, Festus Njuguna, Brenda L. Gallie

Research output: Contribution to journalArticle

86 Citations (Scopus)

Abstract

Retinoblastoma is a rare cancer of the infant retina that is diagnosed in approximately 8,000 children each year worldwide. It forms when both retinoblastoma gene (RB1) alleles are mutated in a susceptible retinal cell, probably a cone photoreceptor precursor. Loss of the tumour-suppressive functions of the retinoblastoma protein (pRB) leads to uncontrolled cell division and recurrent genomic changes during tumour progression. Although pRB is expressed in almost all tissues, cone precursors have biochemical and molecular features that may sensitize them to RB1 loss and enable tumorigenesis. Patient survival is >95% in high-income countries but <30% globally. However, outcomes are improving owing to increased disease awareness for earlier diagnosis, application of new guidelines and sharing of expertise. Intra-arterial and intravitreal chemotherapy have emerged as promising methods to salvage eyes that with conventional treatment might have been lost. Ongoing international collaborations will replace the multiple different classifications of eye involvement with standardized definitions to consistently assess the eligibility, efficacy and safety of treatment options. Life-long follow-up is warranted, as survivors of heritable retinoblastoma are at risk for developing second cancers. Defining the molecular consequences of RB1 loss in diverse tissues may open new avenues for treatment and prevention of retinoblastoma, as well as second cancers, in patients with germline RB1 mutations.

Original languageEnglish (US)
Article number15021
JournalNature Reviews Disease Primers
Volume1
DOIs
StatePublished - Aug 27 2015

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Retinoblastoma
Second Primary Neoplasms
Retinal Neoplasms
Retinoblastoma Genes
Retinal Cone Photoreceptor Cells
Retinoblastoma Protein
Germ-Line Mutation
Cell Division
Survivors
Early Diagnosis
Neoplasms
Carcinogenesis
Alleles
Guidelines
Safety
Drug Therapy
Survival
Therapeutics

ASJC Scopus subject areas

  • Medicine(all)

Cite this

Dimaras, H., Corson, T., Cobrinik, D., White, A., Zhao, J., Munier, F. L., ... Gallie, B. L. (2015). Retinoblastoma. Nature Reviews Disease Primers, 1, [15021]. https://doi.org/10.1038/nrdp.2015.21

Retinoblastoma. / Dimaras, Helen; Corson, Timothy; Cobrinik, David; White, Abby; Zhao, Junyang; Munier, Francis L.; Abramson, David H.; Shields, Carol L.; Chantada, Guillermo L.; Njuguna, Festus; Gallie, Brenda L.

In: Nature Reviews Disease Primers, Vol. 1, 15021, 27.08.2015.

Research output: Contribution to journalArticle

Dimaras, H, Corson, T, Cobrinik, D, White, A, Zhao, J, Munier, FL, Abramson, DH, Shields, CL, Chantada, GL, Njuguna, F & Gallie, BL 2015, 'Retinoblastoma', Nature Reviews Disease Primers, vol. 1, 15021. https://doi.org/10.1038/nrdp.2015.21
Dimaras H, Corson T, Cobrinik D, White A, Zhao J, Munier FL et al. Retinoblastoma. Nature Reviews Disease Primers. 2015 Aug 27;1. 15021. https://doi.org/10.1038/nrdp.2015.21
Dimaras, Helen ; Corson, Timothy ; Cobrinik, David ; White, Abby ; Zhao, Junyang ; Munier, Francis L. ; Abramson, David H. ; Shields, Carol L. ; Chantada, Guillermo L. ; Njuguna, Festus ; Gallie, Brenda L. / Retinoblastoma. In: Nature Reviews Disease Primers. 2015 ; Vol. 1.
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