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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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Autores principales: Cruz-Gálvez, Claudia Carolina, Ordaz-Favila, Juan Carlos, Villar-Calvo, Víctor Manuel, Cancino-Marentes, Martha Edith, Bosch-Canto, Vanessa
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9670800/
https://www.ncbi.nlm.nih.gov/pubmed/36408154
http://dx.doi.org/10.3389/fonc.2022.963780
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author Cruz-Gálvez, Claudia Carolina
Ordaz-Favila, Juan Carlos
Villar-Calvo, Víctor Manuel
Cancino-Marentes, Martha Edith
Bosch-Canto, Vanessa
author_facet Cruz-Gálvez, Claudia Carolina
Ordaz-Favila, Juan Carlos
Villar-Calvo, Víctor Manuel
Cancino-Marentes, Martha Edith
Bosch-Canto, Vanessa
author_sort Cruz-Gálvez, Claudia Carolina
collection PubMed
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.
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spelling pubmed-96708002022-11-18 Retinoblastoma: Review and new insights Cruz-Gálvez, Claudia Carolina Ordaz-Favila, Juan Carlos Villar-Calvo, Víctor Manuel Cancino-Marentes, Martha Edith Bosch-Canto, Vanessa Front Oncol Oncology 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. Frontiers Media S.A. 2022-11-02 /pmc/articles/PMC9670800/ /pubmed/36408154 http://dx.doi.org/10.3389/fonc.2022.963780 Text en Copyright © 2022 Cruz-Gálvez, Ordaz-Favila, Villar-Calvo, Cancino-Marentes and Bosch-Canto https://creativecommons.org/licenses/by/4.0/This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
spellingShingle Oncology
Cruz-Gálvez, Claudia Carolina
Ordaz-Favila, Juan Carlos
Villar-Calvo, Víctor Manuel
Cancino-Marentes, Martha Edith
Bosch-Canto, Vanessa
Retinoblastoma: Review and new insights
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 Oncology
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9670800/
https://www.ncbi.nlm.nih.gov/pubmed/36408154
http://dx.doi.org/10.3389/fonc.2022.963780
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