Skip to main content
SpringerLink
Log in
Book cover

Encyclopedia of Cancer pp 1–6Cite as

Retinoblastoma

  • Living reference work entry
  • First Online:

Synonyms

Glioma retinae

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...

This is a preview of subscription content, log in via an institution.

References

  • Abramson DH, Schefler AC (2004) Update on retinoblastoma. Retina 24:828–848

    Article  PubMed  Google Scholar 

  • Fletcher O, Easton D, Anderson K et al (2004) Lifetime risks of common cancers among retinoblastoma survivors. J Natl Cancer Inst 96:357–363

    Article  PubMed  Google Scholar 

  • Lohmann DR (1999) RB1 gene mutations in retinoblastoma. Hum Mutat 14:283–288

    Article  CAS  PubMed  Google Scholar 

  • Lohmann DR, Gallie BL (2004) Retinoblastoma: revisiting the model prototype of inherited cancer. Am J Med Genet C Semin Med Genet 129:23–28

    Article  Google Scholar 

  • 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 14:327–334

    Article  CAS  PubMed  Google Scholar 

  • 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 514:385–388

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Zhang J, Benavente CA, McEvoy J, Flores-Otero J, Ding L, Chen X, Ulyanov A, Wu G, Wilson M, Wang J et al (2012) A novel retinoblastoma therapy from genomic and epigenetic analyses. Nature 481:329

    CAS  PubMed  PubMed Central  Google Scholar 

See Also

  • (2012) Allele. In: Schwab M (ed) Encyclopedia of cancer, 3rd edn. Springer, Berlin/Heidelberg, p 137. doi:10.1007/978-3-642-16483-5_6570

    Google Scholar 

  • (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_489

    Google Scholar 

  • (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_2404

    Google Scholar 

  • (2012) Hypermethylation. In: Schwab M (ed) ncyclopedia of cancer, 3rd edn. Springer, Berlin/Heidelberg, p 1784. doi:10.1007/978-3-642-16483-5_2910

    Google Scholar 

  • (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_3415

    Google Scholar 

  • (2012) Penetrance. In: Schwab M (ed) Encyclopedia of cancer, 3rd edn. Springer, Berlin/Heidelberg, p 2806. doi:10.1007/978-3-642-16483-5_4437

    Google Scholar 

  • (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_4653

    Google Scholar 

  • (2012) RB1. In: Schwab M (ed) Encyclopedia of cancer, 3rd edn. Springer, Berlin/Heidelberg, p 3189. doi:10.1007/978-3-642-16483-5_4964

    Google Scholar 

  • (2012) Sporadic. In: Schwab M (ed) Encyclopedia of cancer, 3rd edn. Springer, Berlin/Heidelberg, p 3487. doi:10.1007/978-3-642-16483-5_5458

    Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Institut für Humangenetik, Universitätsklinikum Essen, Essen, Germany

    Dietmar Lohmann

Authors
  1. Dietmar Lohmann
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to Dietmar Lohmann .

Editor information

Editors and Affiliations

  1. Abt. Tumorgenetik, Deutsches Krebsforschungszentrum, Heidelberg, Germany

    Manfred Schwab

Rights and permissions

Reprints and permissions

Copyright information

© 2015 Springer-Verlag Berlin Heidelberg

About this entry

Cite this entry

Lohmann, D. (2015). Retinoblastoma. In: Schwab, M. (eds) Encyclopedia of Cancer. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-642-27841-9_5068-2

Download citation

  • DOI: https://doi.org/10.1007/978-3-642-27841-9_5068-2

  • Received:

  • Accepted:

  • Published:

  • Publisher Name: Springer, Berlin, Heidelberg

  • Online ISBN: 978-3-642-27841-9

  • eBook Packages: Springer Reference Biomedicine and Life SciencesReference Module Biomedical and Life Sciences

Publish with us

Policies and ethics

Search

Navigation