Epidemiology and Rb1 Gene of Retinoblastoma

Overview

Journal Int J Ophthalmol

Specialty Ophthalmology

Date 2012 May 4

PMID 22553621

Citations 45

Authors

Jun Yun

Yang Li

Chang-Tai Xu

Bo-Rong Pan

Affiliations

Soon will be listed here.

Abstract

Retinoblastoma (Rb) is the most common eye cancer in children and it can be inherited. Rb is quite rare and originators from the neural retina with a significant genetic component in etiology, which occurs in approximately 1 in every 20 0000 births. In children with the heritable genetic form of Rb, there is a mutation on chromosome 13, called the retinoblastoma 1 (Rb1) gene. Early diagnosis and intervention is critical to the successful treatment of the Rb. The Rb1 gene is the first cloned tumor suppressor gene. As a negative regulator of the cell cycle, Rb1 gene could maintain a balance between cell growth and development through binding to transcription factors and regulating the expression of genes involved in cell proliferation and differentiation. Thus, it is involved in cell cycle, cell senescence, growth arrest, apoptosis and differentiation. We summarized the recent advances on the epidemiology and Rb1 gene of Rb in this review.

Citing Articles

Whole-Exome Analysis and Osteosarcoma: A Game Still Open.

Chiappetta C, Della Rocca C, Di Cristofano C Int J Mol Sci. 2025; 25(24.

PMID: 39769419 PMC: 11728052. DOI: 10.3390/ijms252413657.

Diagnostics and Therapy for Malignant Tumors.

Tsai C, Wang C, Chang H, Chang P, Chang C, Chu T Biomedicines. 2025; 12(12.

PMID: 39767566 PMC: 11726849. DOI: 10.3390/biomedicines12122659.

Expression of Wnt signaling proteins LEF1, β-catenin, GSK3β, DVL1, and N-myc varies across retinoblastoma subtypes and pRb phosphorylation status.

Markovic L, Bukovac A, Varosanec A, Jakovcevic A, Tomas D, Sonicki Z Sci Rep. 2024; 14(1):31725.

PMID: 39738380 PMC: 11685868. DOI: 10.1038/s41598-024-82044-z.

Global, regional and national burden due to retinoblastoma in children aged younger than 10 years from 1990 to 2021.

Li C, Zhang L, Zhang J, Jiao J, Hua G, Wang Y BMC Med. 2024; 22(1):604.

PMID: 39736662 PMC: 11686879. DOI: 10.1186/s12916-024-03827-9.

Prospects of anti-GD2 immunotherapy for retinoblastoma.

Zhang X, You W, Wang Y, Dejenie R, Wang C, Huang Y Front Immunol. 2024; 15:1499700.

PMID: 39620227 PMC: 11604707. DOI: 10.3389/fimmu.2024.1499700.

References

MacCarthy A, Bayne A, Draper G, Eatock E, Kroll M, Stiller C . Non-ocular tumours following retinoblastoma in Great Britain 1951 to 2004. Br J Ophthalmol. 2009; 93(9):1159-62. DOI: 10.1136/bjo.2008.146035. View

Lim Z, Quah B . Unilateral retinoblastoma in an eye with Peters anomaly. J AAPOS. 2010; 14(2):184-6. DOI: 10.1016/j.jaapos.2010.02.005. View

Vance K, Shaw H, Rodriguez M, Ott S, Goding C . The retinoblastoma protein modulates Tbx2 functional specificity. Mol Biol Cell. 2010; 21(15):2770-9. PMC: 2912361. DOI: 10.1091/mbc.E09-12-1029. View

Gupta R, Vemuganti G, Reddy V, Honavar S . Histopathologic risk factors in retinoblastoma in India. Arch Pathol Lab Med. 2009; 133(8):1210-4. DOI: 10.5858/133.8.1210. View

MacCarthy A, Bunch K, Fear N, King J, Vincent T, Murphy M . Paternal occupation and retinoblastoma: a case-control study based on data for Great Britain 1962-1999. Occup Environ Med. 2009; 66(10):644-9. DOI: 10.1136/oem.2007.037218. View

Schuler A, Weber S, Neuhauser M, Jurklies C, Lehnert T, Heimann H . Age at diagnosis of isolated unilateral retinoblastoma does not distinguish patients with and without a constitutional RB1 gene mutation but is influenced by a parent-of-origin effect. Eur J Cancer. 2005; 41(5):735-40. DOI: 10.1016/j.ejca.2004.12.022. View

Lumbroso-Le Rouic L, Aerts I, Levy-Gabriel C, Dendale R, Sastre X, Esteve M . Conservative treatments of intraocular retinoblastoma. Ophthalmology. 2008; 115(8):1405-10, 1410.e1-2. DOI: 10.1016/j.ophtha.2007.11.009. View

Marees T, van Leeuwen F, de Boer M, Imhof S, Ringens P, Moll A . Cancer mortality in long-term survivors of retinoblastoma. Eur J Cancer. 2009; 45(18):3245-53. DOI: 10.1016/j.ejca.2009.05.011. View

Wilson P, Nagasawa H, Fitzek M, Little J, Bedford J . G2-phase chromosomal radiosensitivity of primary fibroblasts from hereditary retinoblastoma family members and some apparently normal controls. Radiat Res. 2010; 173(1):62-70. PMC: 2819004. DOI: 10.1667/RR1943.1. View

10.

Kanber D, Berulava T, Ammerpohl O, Mitter D, Richter J, Siebert R . The human retinoblastoma gene is imprinted. PLoS Genet. 2009; 5(12):e1000790. PMC: 2791201. DOI: 10.1371/journal.pgen.1000790. View

11.

Ganguly A, Shields C . Differential gene expression profile of retinoblastoma compared to normal retina. Mol Vis. 2010; 16:1292-303. PMC: 2904042. View

12.

Dimaras H, Rushlow D, Halliday W, Doyle J, Babyn P, Abella E . Using RB1 mutations to assess minimal residual disease in metastatic retinoblastoma. Transl Res. 2010; 156(2):91-7. DOI: 10.1016/j.trsl.2010.05.009. View

13.

Chintagumpala M, Chevez-Barrios P, Paysse E, Plon S, Hurwitz R . Retinoblastoma: review of current management. Oncologist. 2007; 12(10):1237-46. DOI: 10.1634/theoncologist.12-10-1237. View

14.

Leiderman Y, Kiss S, Mukai S . Molecular genetics of RB1--the retinoblastoma gene. Semin Ophthalmol. 2007; 22(4):247-54. DOI: 10.1080/08820530701745165. View

15.

Canty C . Retinoblastoma: an overview for advanced practice nurses. J Am Acad Nurse Pract. 2009; 21(3):149-55. DOI: 10.1111/j.1745-7599.2008.00378.x. View

16.

Nichols K, Walther S, Chao E, Shields C, Ganguly A . Recent advances in retinoblastoma genetic research. Curr Opin Ophthalmol. 2009; 20(5):351-5. DOI: 10.1097/ICU.0b013e32832f7f25. View

17.

Lohmann D . Retinoblastoma. Adv Exp Med Biol. 2010; 685:220-7. DOI: 10.1007/978-1-4419-6448-9_21. View

18.

Krishna S, Yu G, Finger P . The effect of race on the incidence of retinoblastoma. J Pediatr Ophthalmol Strabismus. 2009; 46(5):288-93. DOI: 10.3928/01913913-20090903-06. View

19.

Rodriguez-Galindo C, Wilson M, Chantada G, Fu L, Qaddoumi I, Antoneli C . Retinoblastoma: one world, one vision. Pediatrics. 2008; 122(3):e763-70. PMC: 2844325. DOI: 10.1542/peds.2008-0518. View

20.

Sovinz P, Urban C, Lackner H, Benesch M, Langmann G . Retinoblastoma: a proposal for a multimodal treatment concept for intraocular retinoblastoma in Austria. Wien Klin Wochenschr. 2006; 118(1-2):22-30. DOI: 10.1007/s00508-005-0503-z. View