Encyclopedia of Cancer

Living Edition
| Editors: Manfred Schwab

Retinoblastoma

Living reference work entry
DOI: https://doi.org/10.1007/978-3-642-27841-9_5068-2

Synonyms

Definition

Retinoblastoma (Rb, OMIM 180200) is a malignant childhood tumor of the eye that originates from photoreceptor precursor cells of the developing retina (Xu et al. 2014). Diagnosis is based on clinical signs and symptoms and is usually made in the first 3 years of life. Development of almost all Rbs is initiated by mutations that alter both alleles of the RB1 gene (Rushlow et al. 2013). In most patients with sporadic unilateral Rb, both mutations have occurred in somatic cells. Almost all patients with sporadic bilateral Rb are heterozygous for an oncogenic alteration of the RB1 gene that was either transmitted from a parent or has occurred de novo in the germ line of one parent. Individuals heterozygous for such an alteration have a heritable predisposition to development of Rb. Penetrance and expressivity of this autosomal dominant trait are variable, which may in part be explained by residual gene function of some mutant alleles.

Characteristics

Clini...

Keywords

Incomplete Penetrance Premature Termination Codon Nonsense Mediate Decay Length Mutation Vitreous Seeding 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.
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References

  1. Abramson DH, Schefler AC (2004) Update on retinoblastoma. Retina 24:828–848CrossRefPubMedGoogle Scholar
  2. Fletcher O, Easton D, Anderson K et al (2004) Lifetime risks of common cancers among retinoblastoma survivors. J Natl Cancer Inst 96:357–363CrossRefPubMedGoogle Scholar
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  5. Rushlow DE, Mol BM, Kennett JY, Yee S, Pajovic S, Theriault BL, Prigoda-Lee NL, Spencer C, Dimaras H, Corson TW et al (2013) Characterisation of retinoblastomas without RB1 mutations: genomic, gene expression, and clinical studies. Lancet Oncol 14:327–334CrossRefPubMedGoogle Scholar
  6. Xu XL, Singh HP, Wang L, Qi D-L, Poulos BK, Abramson DH, Jhanwar SC, Cobrinik D (2014) Rb suppresses human cone-precursor-derived retinoblastoma tumours. Nature 514:385–388CrossRefPubMedPubMedCentralGoogle Scholar
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See Also

  1. (2012) Allele. In: Schwab M (ed) Encyclopedia of cancer, 3rd edn. Springer, Berlin/Heidelberg, p 137. doi:10.1007/978-3-642-16483-5_6570Google Scholar
  2. (2012) Autosomal dominant. In: Schwab M (ed) Encyclopedia of cancer, 3rd edn. Springer, Berlin/Heidelberg, p 323. doi:10.1007/978-3-642-16483-5_489Google Scholar
  3. (2012) Germline mutation. In: Schwab M (ed) Encyclopedia of cancer, 3rd edn. Springer, Berlin/Heidelberg, p 1544. doi:10.1007/978-3-642-16483-5_2404Google Scholar
  4. (2012) Hypermethylation. In: Schwab M (ed) ncyclopedia of cancer, 3rd edn. Springer, Berlin/Heidelberg, p 1784. doi:10.1007/978-3-642-16483-5_2910Google Scholar
  5. (2012) Loss of heterozygosity. In: Schwab M (ed) encyclopedia of cancer, 3rd edn. Springer, Berlin/Heidelberg, pp 2075–2076. doi:10.1007/978-3-642-16483-5_3415Google Scholar
  6. (2012) Penetrance. In: Schwab M (ed) Encyclopedia of cancer, 3rd edn. Springer, Berlin/Heidelberg, p 2806. doi:10.1007/978-3-642-16483-5_4437Google Scholar
  7. (2012) Point mutation. In: Schwab M (ed) Encyclopedia of cancer, 3rd edn. Springer, Berlin/Heidelberg, p 2934. doi:10.1007/978-3-642-16483-5_4653Google Scholar
  8. (2012) RB1. In: Schwab M (ed) Encyclopedia of cancer, 3rd edn. Springer, Berlin/Heidelberg, p 3189. doi:10.1007/978-3-642-16483-5_4964Google Scholar
  9. (2012) Sporadic. In: Schwab M (ed) Encyclopedia of cancer, 3rd edn. Springer, Berlin/Heidelberg, p 3487. doi:10.1007/978-3-642-16483-5_5458Google Scholar

Copyright information

© Springer-Verlag Berlin Heidelberg 2015

Authors and Affiliations

  1. 1.Institut für HumangenetikUniversitätsklinikum EssenEssenGermany