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Critical Reviews™ in Oncogenesis
SJR: 0.946 SNIP: 0.503 CiteScore™: 2

ISSN Print: 0893-9675
ISSN Online: 2162-6448

Critical Reviews™ in Oncogenesis

DOI: 10.1615/CritRevOncog.2015013711
pages 217-225

Genetic and Epigenetic Discoveries in Human Retinoblastoma

Justina D. McEvoy
Department of Developmental Neurobiology, St. Jude Children's Research Hospital, Memphis, Tennessee
Michael A. Dyer
Department of Developmental Neurobiology, St. Jude Children's Research Hospital, Memphis, Tennessee; Department of Ophthalmology, University of Tennessee Health Science Center, Memphis, Tennessee; Howard Hughes Medical Institute, Chevy Chase, Maryland


Retinoblastoma is a rare pediatric cancer of the retina. Nearly all retinoblastomas are initiated through the biallelic inactivation of the retinoblastoma tumor susceptibility gene (RB1). Whole-genome sequencing has made it possible to identify secondary genetic lesions following RB1 inactivation. One of the major discoveries from retinoblastoma sequencing studies is that some retinoblastoma tumors have stable genomes. Subsequent epigenetic studies showed that changes in the epigenome contribute to the rapid progression of retinoblastoma following RB1 gene inactivation. In addition, gene amplification and elevated expression of p53 antagonists, MDM2 and MDM4, may also play an important role in retinoblastoma tumorigenesis. The knowledge gained from these recent molecular, cellular, genomic, and epigenomic analyses are now being integrated to identify new therapeutic approaches that can help save lives and vision in children with retinoblastoma, with fewer long-term side effects.

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