The DOI matches its Crossref record; 111 of the 111 references it cites were found in a registry or an index.
Retinoblastoma
Open accessAbstract
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.
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Cites
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Mutation and cancer: statistical study of retinoblastoma
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A human DNA segment with properties of the gene that predisposes to retinoblastoma and osteosarcoma
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Expression of recessive alleles by chromosomal mechanisms in retinoblastoma
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Self-citationHuman Retinoblastoma Susceptibility Gene: Cloning, Identification, and Sequence
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Two genetic hits (more or less) to cancer
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Structural Evidence for the Authenticity of the Human Retinoblastoma Gene
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Cited by
Therapeutic targeting of the RB1 pathway in retinoblastoma with the oncolytic adenovirus VCN-01
Pascual-Pasto, G., Bazan-Peregrino, M., Olaciregui, N. G., Restrepo-Perdomo, C. A., Mato-Berciano, A., Ottaviani, D., Weber, K., Correa, G., Paco, S., Vila-Ubach, M., et al. (2019) · Science Translational Medicine · doi:10.1126/scitranslmed.aat9321 · Cited by 118
Self-citationTumor Syndromes Predisposing to Osteosarcoma
Hameed, M., & Mandelker, D. (2018) · Advances in Anatomic Pathology · doi:10.1097/pap.0000000000000190 · Cited by 109
Singh, H. P., Wang, S., Stachelek, K., Lee, S., Reid, M. W., Thornton, M. E., Craft, C. M., Grubbs, B. H., & Cobrinik, D. (2018) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1808903115 · Cited by 78
Self-citationEffectively suppressed angiogenesis-mediated retinoblastoma growth using celastrol nanomicelles
Li, Z., Guo, Z., Chu, D., Feng, H., Zhang, J., Zhu, L., & Li, J. (2020) · Drug Delivery · doi:10.1080/10717544.2020.1730522 · Cited by 62
Metadata
- Authors
- Dimaras, H., Corson, T. W., Cobrinik, D., White, A., Zhao, J., Munier, F. L., Abramson, D. H., Shields, C. L., Chantada, G. L., Njuguna, F., & Gallie, B. L.
- Venue
- Nature Reviews Disease Primers
- Published
- 2015-08-27
- Volume
- 1
- Issue
- 1
- Pages
- 15021-15021
- ISSN
- 2056-676X (ISSN-L)
- OpenAlex
- W4211146114
- Cited by
- 553
- References
- 111
- FWCI
- 5.21
- Type
- journal article
- Language
- en
- Open access
- green
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- Dimaras, H., Corson, T. W., Cobrinik, D., White, A., Zhao, J., Munier, F. L., Abramson, D. H., Shields, C. L., Chantada, G. L., Njuguna, F., & Gallie, B. L. (2015). Retinoblastoma. Nature Reviews Disease Primers. https://doi.org/10.1038/nrdp.2015.21
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Bibliographic data: Semantic Scholar, OpenAlex, Crossref.
Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
Semantic Scholar’s data is described in: Kinney, R., et al. (2023). The Semantic Scholar Open Data Platform. arXiv:2301.10140.
