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Genomics

The path to retinoblastoma

Nature volume 481, pages 269–270 (2012)Cite this article

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Genomic analyses of tumours of the childhood cancer retinoblastoma reveal a low mutation rate, challenging the view that genomic instability is crucial for its progression. The work also identifies a new therapeutic target. See Article p.329

Retinoblastoma is a rare tumour that affects retinal cells in the eyes of children. Analyses of familial and sporadic cases of this cancer, backed by studies in genetically engineered mice, have shown that loss of function of the tumour-suppressor protein RB1 (also known as RB) is required for the development of most, if not all, tumours of this type. However, it is not clear how RB1-deficient retinal cells progress to malignant tumour cells1. In addition, emerging evidence that loss of RB1 function can induce genomic instability2 has raised the tantalizing possibility that RB1-deficient retinal cells might be predisposed to accumulating many additional mutations, further complicating the identification of mutations that contribute to the development and maintenance of retinoblastoma. On page 329 of this issue, however, Zhang et al.3 demonstrate that retinoblastoma genomes have very few recurrent mutations in genes other than RB1. Instead, the expression of cancer-related genes is affected by epigenetic modifications on chromosomes, which do not affect DNA sequence but are inherited after cell division.

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Authors and Affiliations

  1. Julien Sage is in the Departments of Pediatrics and of Genetics, Stanford Cancer Institute, Stanford University School of Medicine, Stanford, California 94305, USA.,

    Julien Sage

  2. Michael L. Cleary is in the Departments of Pathology and of Pediatrics, Stanford Cancer Institute, Stanford University School of Medicine, Stanford, California 94305, USA.,

    Michael L. Cleary

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  1. Julien Sage
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  2. Michael L. Cleary
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Correspondence to Julien Sage or Michael L. Cleary.

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Sage, J., Cleary, M. The path to retinoblastoma. Nature 481, 269–270 (2012). https://doi.org/10.1038/481269a

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