Some Aggressive Retinoblastomas Lack RB1 Mutations


March 26, 2013

Most retinoblastomas are driven by loss of both copies of the RB1 gene. Now, researchers report that nearly 1 in 5 children with aggressive, very-early-onset retinoblastoma have normal RB1 genes; their tumors are driven by amplification of the MYCN oncogene, according to a report published online March 13 in Lancet Oncology. Identifying this form of RB could change surgical management, Joan O'Brien, MD, chair of Ophthalmology, told Medscape Medical News. "A child who has early-onset RB is often considered to have the heritable form of the disease. The other eye may become involved. For this reason, specialists may avoid removing the [first] eye and give chemotherapy instead. In the case of the MYCN-amplified disease, this study suggests that since the disease is particularly aggressive, and the other eye will not become involved, surgical removal of the diseased eye is the correct therapeutic course."

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