A new type of retinoblastoma

Monday, March 25 2013 | 00 h 00 min | News

A team of Canadian and international researchers has found a new type of retinoblastoma, an eye cancer that affects babies.

The researchers showed that a single cancer gene (an oncogene) drives an aggressive retinoblastoma that starts long before birth in families with no history of the disease. These tumours are much larger than those found in babies of the same age who have hereditary retinoblastoma. About 2% of patients are affected by this form of the disease.

“We’ve thought for a long time that all retinoblastoma were caused by loss of the retinoblastoma gene,” explains Dr. Brenda Gallie, head researcher and an ophthalmologist affiliated with the Hospital for Sick Children (SickKids) and the University of Toronto. “Our study now reveals that’s not the whole story: a new type of retinoblastoma, with normal retinoblastoma genes, is instead driven by extra copies of a powerful cancer gene, causing the cancer to grow very rapidly long before birth. The average age of diagnosis is four months.”

The diagnosis is generally made after parents notice their child has a white rather than black pupil.

Source:

http://www.sciencedaily.com/releases/2013/03/130312231012.htm