Retinoblastoma: Review and new insights
Retinoblastoma (Rb), the most frequent malignant intraocular tumor in childhood, is caused by mutations in the retinoblastoma gene (RB1) situated on chromosome 13q14.2. The incidence of retinoblastoma is approximately 1 in 17,000 live births with approximately 8,000 new cases diagnosed each year wor...
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| Format: | Article |
| Language: | English |
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Frontiers Media S.A.
2022-11-01
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| Series: | Frontiers in Oncology |
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| Online Access: | https://www.frontiersin.org/articles/10.3389/fonc.2022.963780/full |
| _version_ | 1797990194244222976 |
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| author | Claudia Carolina Cruz-Gálvez Juan Carlos Ordaz-Favila Víctor Manuel Villar-Calvo Martha Edith Cancino-Marentes Vanessa Bosch-Canto |
| author_facet | Claudia Carolina Cruz-Gálvez Juan Carlos Ordaz-Favila Víctor Manuel Villar-Calvo Martha Edith Cancino-Marentes Vanessa Bosch-Canto |
| author_sort | Claudia Carolina Cruz-Gálvez |
| collection | DOAJ |
| description | Retinoblastoma (Rb), the most frequent malignant intraocular tumor in childhood, is caused by mutations in the retinoblastoma gene (RB1) situated on chromosome 13q14.2. The incidence of retinoblastoma is approximately 1 in 17,000 live births with approximately 8,000 new cases diagnosed each year worldwide. Rb is the prototypical hereditary cancer in humans. Autosomal dominant inheritance is seen in 30-40% of cases whereas the non-inherited sporadic type accounts for the remaining 60-70%. Rb arises due to inactivation of both alleles of the Rb tumor suppressor gene, which results in a defective Rb protein (pRB) with subsequent cell cycle impairment and uncontrolled cell proliferation. Patients with Rb have survival rates higher than 95-98% in industrialized countries but mortality remains high in developing countries. For example, the mortality rate in Africa is 70%. In all cases of intraocular and extraocular retinoblastoma, there is a need for new therapies that are more effective and carry less risk of toxicity. The Bruckner test is a practical and easy test for the detection of Rb, this test consists of assessing the fundus reflex through the pupil (red reflex) in both eyes simultaneously with a bright coaxial light produced with the direct ophthalmoscope. Rb can be detected by the Bruckner test showing a pupil that shines white or “Leukocoria”. Although the diagnosis of Rb remains essentially clinical, the newly identified biomarkers could contribute to early molecular detection, timely detection of micrometastases and establish new therapeutic options for Rb. |
| first_indexed | 2024-04-11T08:32:40Z |
| format | Article |
| id | doaj.art-bc63f68e335045d188ade28741ca171d |
| institution | Directory Open Access Journal |
| issn | 2234-943X |
| language | English |
| last_indexed | 2024-04-11T08:32:40Z |
| publishDate | 2022-11-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Oncology |
| spelling | doaj.art-bc63f68e335045d188ade28741ca171d2022-12-22T04:34:27ZengFrontiers Media S.A.Frontiers in Oncology2234-943X2022-11-011210.3389/fonc.2022.963780963780Retinoblastoma: Review and new insightsClaudia Carolina Cruz-Gálvez0Juan Carlos Ordaz-Favila1Víctor Manuel Villar-Calvo2Martha Edith Cancino-Marentes3Vanessa Bosch-Canto4Physiology Department, Centro Universitario de Ciencias de la Salud, Universidad de Guadalajara, Guadalajara, MexicoPediatric Ophthalmology, Instituto Nacional de Pediatría, Universidad Autónoma de México, México City, MexicoPrivate practice, Pediatric Ophthalmology, Guadalajara, MexicoMaster of Public Health, Universidad Autónoma de Nayarit, Tepic, MexicoPediatric Ophthalmology, Instituto Nacional de Pediatría, Universidad Autónoma de México, México City, MexicoRetinoblastoma (Rb), the most frequent malignant intraocular tumor in childhood, is caused by mutations in the retinoblastoma gene (RB1) situated on chromosome 13q14.2. The incidence of retinoblastoma is approximately 1 in 17,000 live births with approximately 8,000 new cases diagnosed each year worldwide. Rb is the prototypical hereditary cancer in humans. Autosomal dominant inheritance is seen in 30-40% of cases whereas the non-inherited sporadic type accounts for the remaining 60-70%. Rb arises due to inactivation of both alleles of the Rb tumor suppressor gene, which results in a defective Rb protein (pRB) with subsequent cell cycle impairment and uncontrolled cell proliferation. Patients with Rb have survival rates higher than 95-98% in industrialized countries but mortality remains high in developing countries. For example, the mortality rate in Africa is 70%. In all cases of intraocular and extraocular retinoblastoma, there is a need for new therapies that are more effective and carry less risk of toxicity. The Bruckner test is a practical and easy test for the detection of Rb, this test consists of assessing the fundus reflex through the pupil (red reflex) in both eyes simultaneously with a bright coaxial light produced with the direct ophthalmoscope. Rb can be detected by the Bruckner test showing a pupil that shines white or “Leukocoria”. Although the diagnosis of Rb remains essentially clinical, the newly identified biomarkers could contribute to early molecular detection, timely detection of micrometastases and establish new therapeutic options for Rb.https://www.frontiersin.org/articles/10.3389/fonc.2022.963780/fullretinoblastomaintraocular tumorleukocoriachildrenocular oncology |
| spellingShingle | Claudia Carolina Cruz-Gálvez Juan Carlos Ordaz-Favila Víctor Manuel Villar-Calvo Martha Edith Cancino-Marentes Vanessa Bosch-Canto Retinoblastoma: Review and new insights Frontiers in Oncology retinoblastoma intraocular tumor leukocoria children ocular oncology |
| title | Retinoblastoma: Review and new insights |
| title_full | Retinoblastoma: Review and new insights |
| title_fullStr | Retinoblastoma: Review and new insights |
| title_full_unstemmed | Retinoblastoma: Review and new insights |
| title_short | Retinoblastoma: Review and new insights |
| title_sort | retinoblastoma review and new insights |
| topic | retinoblastoma intraocular tumor leukocoria children ocular oncology |
| url | https://www.frontiersin.org/articles/10.3389/fonc.2022.963780/full |
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