Study answers questions about retinoblastoma—and possibly other cancers

Study answers questions about retinoblastoma—and possibly other cancers

New research focused on one specific gene mutation related to retinal tumors in children may also answer a much larger question about how cancer develops.

"The findings in this research paper are significant not only for our understanding of retinoblastoma, but for our understanding of other types of cancer."

The RB1 gene encodes a tumor suppressor protein known as Rb. Normally, Rb prevents excessive cell growth by inhibiting cell cycle progression until a cell is ready to divide. But if both alleles of the RB1 gene are mutated early in life, the Rb protein becomes inactive. As a result, retinoblastomas develop in children.

Although the Rb protein regulates proliferation in many cell types, only cells in the retina routinely form cancers when the function of the RB1 gene is lost.

David E. Cobrinik, M.D., Ph.D., one of the authors of the study, published in the online issue of Nature, believes these findings go beyond retinoblastoma-revealing that cancers can develop through the collaboration between a mutation and cell type—specific circuitry.

Erin C. Jenewein, O.D., M.S., assistant professor at Nova Southeastern University College of Optometry, sees this study as an important step forward in cancer research.

"The findings in this research paper are significant not only for our understanding of retinoblastoma, but for our understanding of other types of cancer," Dr. Jenewein says. "A better understanding of where cancer cells come from will lead to better treatments for different types of cancer."

Detection and treatment of retinoblastoma
Retinoblastoma is the most common cancer involving the eye and young children and the tenth-most common pediatric cancer. It affects one in every 20,000 American children.

Dr. Jenewein notes that retinoblastoma is a devastating condition and that children with this diagnosis often face decreased vision, loss of an eye, and even death.

"Hopefully this better understanding of the origins of retinoblastoma will lead to the development of new methods for detection," she says.

As with any cancer, early detection is critical and can greatly reduce the severity of illness and increase life expectancy.

"Improved methods of detection and treatment for this condition will have a major impact on the visual and overall health outcomes for patients with retinoblastoma," she adds.

October 13, 2014

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