Retinoblastoma management: a systematic review

Authors

  • Dania Jimena Salcedo Polo
  • Luis Alberto Cervantes Anaya
  • Fabricio Byron Guerrero Ortiz

DOI:

https://doi.org/10.34119/bjhrv6n1-329

Keywords:

diagnosis, epidemiology, etiology, retinoblastoma, treatment

Abstract

Retinoblastoma is a rare cancer that occurs in children under 5 years of age from which leukocoria and strabismus are the characteristic signs of this disease. For every 16,000 to 18,000 newborns worldwide, one will get retinoblastoma, while at the Latin American context there are no reported data due to scant research. Therefore, the reason for this research is to describe the management of retinoblastoma. Trauma, human papillomavirus (HPV), and genetic alterations in the RB1 gene are possible causative factors for retinoblastoma. The diagnosis is based on the clinic, genetic tests, imaging tests and in cases of metastasis, a cerebrospinal fluid (CSF) aspiration is performed through lumbar puncture. There is another method such as non-invasive prenatal diagnosis (NIPD), here the main diagnosis is indirect ophthalmoscopy. The treatment is directly related to the evolution of the disease using different methods such as enucleation, cryotherapy, chemotherapy and radiotherapy that can be used individually or in combination to improve the quality of life of the patient; however, enucleation followed by chemotherapy remain as the main method of treatment.

References

Pandey AN. Retinoblastoma: An overview. Saudi Journal of Ophthalmology [Internet]. 2014 [cited 2022 Sep 21];28(4):310–5. Available from: http://dx.doi.org/10.1016/j.sjopt.2013.11.001

Kaewkhaw R, Rojanaporn D. Retinoblastoma: Etiology, modeling, and treatment. Cancers (Basel) [Internet]. 2020 [cited 2022 Sep 21];12(8):1–23. Available from: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7465685/

Fabian ID, Sagoo MS. Understanding retinoblastoma: epidemiology and genetics. Community Eye Health [Internet]. 2018 [cited 2022 Sep 21];31(101):7. Available from: http://www.ncbi.nlm.nih.gov/pubmed/29915458%0Ahttp://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=PMC5998389

Zhao J, Feng Z, Gallie BL. Natural history of untreated retinoblastoma. Cancers (Basel) [Internet]. 2021 [cited 2022 Sep 21];13(15). Available from: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8344972/

Finger PT, Tomar AS. Retinoblastoma outcomes: a global perspective. Lancet Glob Health [Internet]. 2022 [cited 2022 Sep 21];10(3):e307–8. Available from: http://dx.doi.org/10.1016/S2214-109X(21)00598-2

de Souza AG, Roriz SCR, Júnior WT da S, de Souza EL, Moreira PC, Damasceno LC, et al. Retinoblastoma pediátrico - visão geral / Pediatric retinoblastoma - overview. Brazilian Journal of Health Review. 2022 Apr 4;5(2):5852–62.

Marcos RE, de Souza RR, Rodrigues SMA, Moreira MFM, Costa GM, Procópio e Silva JM, et al. A importância do diagnóstico precoce e tratamento do retinoblastoma na infância. Brazilian Journal of Health Review. 2022 Aug 31;5(4):17144–55.

Dimaras H, Corson TW. Retinoblastoma, the visible CNS tumor: A review. J Neurosci Res [Internet]. 2019 [cited 2022 Sep 21];97(1):29–44. Available from: https://www.thelancet.com/journals/langlo/article/PIIS2214-109X(21)00598-2/fulltext

Ancona Lezama D, A Dalvin L, Shields L C. Symposium Recent advances and challenges in the management of retinoblastoma Globe saving Treatments. BMC Ophthalmol [Internet]. 2017 [cited 2022 Sep 21];17(1):1. Available from: http://www.ncbi.nlm.nih.gov/pubmed/28331284%0Ahttp://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=PMC5354527%5Cnhttp://bmcpsychiatry.biomedcentral.com/articles/10.1186/1471-244X-11-49%5Cnhttp://bmcophthalmol.biomedcentral.com/articles/10.1186/s12886

Citra A, Utomo B, Soebagjo HD. Longer Lag Time in Early-Stage Retinoblastoma. Folia Medica Indonesiana [Internet]. 2022 [cited 2022 Sep 21];58(2):103–7. Available from: https://www.proquest.com/docview/2680630751/fulltextPDF/A70A472933A64E8DPQ/1?accountid=61870

Chan HN, Zhang XJ, Ling XT, Bui CHT, Wang YM, Ip P, et al. Vitamin D and Ocular Diseases: A Systematic Review. Int J Mol Sci [Internet]. 2022 [cited 2022 Sep 21];23(8):1–59. Available from: https://www.proquest.com/docview/2652992626/C7F617BD53C84436PQ/12?accountid=61870

Surukrattanaskul S, Keyurapan B, Wangtiraumnuay N. Correlation between clinical presentations, radiological findings and high risk histopathological features of primary enucleated eyes with advanced retinoblastoma at Queen Sirikit National Institute of Child Health: 5 years result. PLoS One [Internet]. 2022 [cited 2022 Sep 21];17(7 July):1–11. Available from: http://dx.doi.org/10.1371/journal.pone.0270362

Schaiquevich P, Francis JH, Cancela MB, Carcaboso AM, Chantada GL, Abramson DH. Treatment of Retinoblastoma: What Is the Latest and What Is the Future. Front Oncol [Internet]. 2022 [cited 2022 Sep 22];12(April):1–15. Available from: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9010858/pdf/fonc-12-822330.pdf

Marin Lovrić J, Filipović N, Znaor L, Rančić A, Petričević J, Kunac N, et al. Expression of Cell Cycle Markers and Proliferation Factors during Human Eye Embryogenesis and Tumorigenesis. Int J Mol Sci [Internet]. 2022 [cited 2022 Sep 22];23(16):9421. Available from: https://www.proquest.com/docview/2706228201/fulltext/818CC99D5C084EBCPQ/15?accountid=61870

Orjuela-Grimm M, Carreño SB, Liu X, Ruiz A, Medina P, Ramirez Ortiz MA, et al. Sunlight exposure in infancy decreases risk of sporadic retinoblastoma, extent of intraocular disease. Cancer Rep [Internet]. 2021 [cited 2022 Sep 22];4(6):1–10. Available from: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8714544/pdf/CNR2-4-e1409.pdf

Gregersen PA, Funding M, Alsner J, Olsen MH, Overgaard J, Staffieri SE, et al. Genetic testing in adult survivors of retinoblastoma in Denmark: A study of the experience and impact of genetic testing many years after initial diagnosis. Eur J Med Genet [Internet]. 2022 [cited 2022 Sep 22];65(9):104569. Available from: https://doi.org/10.1016/j.ejmg.2022.104569

Zhang Z, Xiao Y shuang, Shen R, Jiang H chao, Tan L, Li R qiu, et al. Next generation sequencing of RB1gene for the molecular diagnosis of ethnic minority with retinoblastoma in Yunnan. BMC Med Genet [Internet]. 2020 [cited 2022 Sep 22];21(1):1–9. Available from: https://pubmed.ncbi.nlm.nih.gov/33225895/

Kim HA, Yoon YH, Kim JG, Lee JY. Clinical Features and Long-term Prognosis of Retinoblastoma according to Age at Diagnosis. Korean Journal of Ophthalmology [Internet]. 2020 [cited 2022 Sep 22];34(3):242–50. Available from: https://pubmed.ncbi.nlm.nih.gov/32495533/

Vargas Cedeño JD, Castrillo Hine C, Argüello Cruz L. Diagnóstico y manejo de retinoblastoma en pediatría. Revista Ciencia y Salud Integrando Conocimientos [Internet]. 2021 [cited 2022 Sep 22];5(5):113–22. Available from: https://revistacienciaysalud.ac.cr/ojs/index.php/cienciaysalud/article/view/369/456

Moeez Uddin M, Farooque U, Aziz MZ, Yasmin F, Qureshi F, Saeed Y, et al. Different Types of Clinical Presentations and Stages of Retinoblastoma Among Children. Cureus [Internet]. 2020 [cited 2022 Sep 22];12(9):6–13. Available from: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7592547/

Soltani S, Tabibzadeh A, Yousefi P, Zandi M, Zakeri A, Akhavan Rezayat S, et al. HPV infections in retinoblastoma: a systematic review. J Clin Lab Anal [Internet]. 2021 [cited 2022 Sep 22];35(10):1–7. Available from: https://onlinelibrary.wiley.com/doi/epdf/10.1002/jcla.23981

Martínez-Sánchez M, Moctezuma-Dávila M, Hernandez-Monge J, Rangel-Charqueño M, Olivares-Illana V. Analysis of the p53 pathway in peripheral blood of retinoblastoma patients; potential biomarkers. PLoS One [Internet]. 2020 [cited 2022 Sep 22];15(6):3–5. Available from: https://pubmed.ncbi.nlm.nih.gov/32502182/

Arshad R, Barani M, Rahdar A, Sargazi S, Cucchiarini M, Pandey S, et al. Multi-functionalized nanomaterials and nanoparticles for diagnosis and treatment of retinoblastoma. Biosensors (Basel) [Internet]. 2021 [cited 2022 Sep 22];11(4):1–19. Available from: https://pubmed.ncbi.nlm.nih.gov/33810621/

Chen R, Ye H, Liu S, Lin Y, Xiao W, Bi S, et al. Head and eye trauma before retinoblastoma diagnosis. Cancer Manag Res [Internet]. 2019 [cited 2022 Sep 22];11:10269–74. Available from: https://pubmed.ncbi.nlm.nih.gov/31827335/

Morales Garcia V, Contreras Paredes A, Martinez Abundis E, Gomez-Crisostomo NP, Lizano M, Hernandez Landero F, et al. The high-risk HPV E6 proteins modify the activity of the eIF4E protein via the MEK/ERK and AKT/PKB pathways. FEBS Open Bio [Internet]. 2020 [cited 2022 Sep 22];10(12):2541–52. Available from: https://www.proquest.com/docview/2466322043/fulltext/528A607609A2487BPQ/4?accountid=61870

Machín E, Bermúdez V, Garicano C, Ortega Á, Rojas M, Ramírez P, et al. Retinoblastoma: un enfoque molecular, clínico y terapéutico Resumen Retinoblastoma: a molecular, clinical and therapeutic approach. Archivos venezolanos de farmacología y terapeútica [Internet]. 2017 [cited 2022 Sep 22];36(5):115–31. Available from: https://www.redalyc.org/pdf/559/55954942003.pdf

Tacle Humanante SS, Casillas Umaginga LE, Estrada Zamora EM. Diagnóstico y tratamiento en pacientes con retinoblastoma. 2022 [cited 2022 Sep 22];7(1):16–28. Available from: http://www.scielo.org.ar/scielo.php?script=sci_arttext&pid=S1852-38622012000100004&lang=pt%0Ahttp://www.scielo.org.ar/pdf/ic/v7n1/v7n1a04.pdf

Silva RVM da, Barreira ACC, Melo AJO de, Corrêa ALP, Castro JPI de, Coelho JC, et al. Tratamento e diagnóstico do retinoblastoma: uma revisão narrativa. Revista Eletrônica Acervo Médico [Internet]. 2022 [cited 2022 Sep 22];13:e10443. Available from: https://acervomais.com.br/index.php/medico/article/view/10443/6298

Gerrish A, Bowns B, Mashayamombe-Wolfgarten C, Young E, Court S, Bott J, et al. Non-invasive prenatal diagnosis of retinoblastoma inheritance by combined targeted sequencing strategies. J Clin Med [Internet]. 2020 [cited 2022 Sep 22];9(11):1–12. Available from: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7692133/

Alvarado-Castillo B, Campos-Campos LE, Villavicencio-Torres A. Características clínicas y metastásicas en retinoblastoma. Rev Med Inst Mex Seguro Soc [Internet]. 2009 [cited 2022 Sep 22];47(2):151–6. Available from: https://www.redalyc.org/articulo.oa?id=457745513008

Guzman C PC, Cordoba MA, Godoy N, Castaño A, Ribeiro KB, Moreno F, et al. Childhood cancer in Latin America: from detection to palliative care and survivorship. Cancer Epidemiol [Internet]. 2021 [cited 2022 Sep 22];71(August 2020). Available from: https://www.proquest.com/docview/2496207294/528A607609A2487BPQ/7?accountid=61870

Garza-Garza LA, Ruiz-Lozano RE, Rebolledo-Méndez G, Ibarra-Nava I, Morales-Garza HJ, Ancona-Lezama D. Challenge of Retinoblastoma in Mexico in 2020: Perspectives and Solutions. J Ophthalmol [Internet]. 2020 [cited 2022 Sep 22];2020. Available from: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7439193/pdf/JOPH2020-1953602.pdf

Omidakhsh N, Hansen J, Ritz B, Coleman AL, McKean-Cowdin R, Olsen J, et al. Parental Occupation and Risk of Childhood Retinoblastoma in Denmark. Physiol Behav [Internet]. 2017 [cited 2022 Sep 22];176(5):139–48. Available from: file:///C:/Users/Carla Carolina/Desktop/Artigos para acrescentar na qualificação/The impact of birth weight on cardiovascular disease risk in the.pdf

Vempuluru VS, Kaliki S. Screening for Retinoblastoma: A Systematic Review of Current Strategies. Asia Pac J Ophthalmol (Phila) [Internet]. 2021 [cited 2022 Sep 22];10(2):192–9. Available from: https://journals.lww.com/apjoo/fulltext/2021/04000/screening_for_retinoblastoma__a_systematic_review.11.aspx

Manuel V, Calvo V, Ma D, Watty E. Retinoblastoma. [cited 2022 Sep 22];1–5. Available from: https://www.manualmoderno.com/apoyos_electronicos/9786074486018/caps/31_04.pdf.

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Published

02/24/2023

How to Cite

POLO, D. J. S.; ANAYA, L. A. C.; ORTIZ, F. B. G. Retinoblastoma management: a systematic review. Brazilian Journal of Health Review, [S. l.], v. 6, n. 1, p. 4235–4247, 2023. DOI: 10.34119/bjhrv6n1-329. Disponível em: https://ojs.brazilianjournals.com.br/ojs/index.php/BJHR/article/view/57536. Acesso em: 18 oct. 2026.

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Original Papers