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Retinoblastoma

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Molecular Pathology in Clinical Practice

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Abstract

Retinoblastoma (RB) is the most common primary intraocular malignancy of childhood associated with blindness and mortality. Mortality from RB has been significantly reduced with earlier diagnosis and improved methods of treatment. Biallelic inactivation of the tumor suppressor gene, RB1, is the cause of retinoblastoma. Multistep genetic analyses, including DNA sequencing, Southern blot, transcript promoter methylation analysis, and real-time PCR, have been used to characterize potential genetic abnormalities of RB1. Predisposing germline RB1 mutations can be detected in 90–95 % of probands with heritable RB, while the detection rate is about 13 % for individuals with unilateral RB. Due to the presence of low-level mosaicism, chromosome rearrangements, or deep intronic splice site changes, detection of mutations can be challenging. The absence of detectable RB1 mutations in a subset of unilateral RB tumors or in bilateral cases suggests the presence of alternate genetic mechanisms. A subset of unilateral RB tumors is associated with amplification of the MYCN oncogene.

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Acknowledgements

The authors are grateful to Dr. Carol Shields, Wills Eye Institute, Thomas Jefferson University, and Dr. Anna Meadows, Children’s Hospital of Philadelphia, for their support and encouragement to pursue retinoblastoma research. This work was supported in part by grants from NIH/NCI (RO1CA118580).

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Authors and Affiliations

  1. Department of Genetics, Perelman School of Medicine, University of Pennsylvania, 415 Curie Boulevard, Room 500, Philadelphia, PA, 19104, USA

    Arupa Ganguly Ph.D. & Zhao Chen Ph.D.

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  1. Arupa Ganguly Ph.D.
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  2. Zhao Chen Ph.D.
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Correspondence to Arupa Ganguly Ph.D. .

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Editors and Affiliations

  1. Pathology and Laboratory Medicine, University of Vermont College of Medicine and University of Vermont Medical Center, Burlington, Vermont, USA

    Debra G.B. Leonard

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© 2016 Springer International Publishing Switzerland

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Ganguly, A., Chen, Z. (2016). Retinoblastoma. In: Leonard, D. (eds) Molecular Pathology in Clinical Practice. Springer, Cham. https://doi.org/10.1007/978-3-319-19674-9_29

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  • DOI: https://doi.org/10.1007/978-3-319-19674-9_29

  • Publisher Name: Springer, Cham

  • Print ISBN: 978-3-319-19673-2

  • Online ISBN: 978-3-319-19674-9

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