(RxWiki News) A genetic discovery has given some babies a new life – literally. The finding actually redefines a rare but curable cancer that’s usually spotted in infants or toddlers.
Scientists have learned that a curable cancer of the eye isn’t always passed down from parents to child. Retinoblastoma can be caused by a cancer gene that is not inherited.
A new type of the retinoblastoma has been defined, according to researchers.
Identifying this cancer gene means the babies affected and their siblings don’t have to be tested for the rest of their lives in fear the disease has spread or shown up in another family member.
"If your baby’s pupil is white – speak with a doctor."
Brenda Gallie, MD, at the Princess Margaret Cancer Centre, University Health Network (UHN), led a team of researchers from Canada and around the world.
Retinoblastoma is a rare cancer that’s diagnosed in about 300 children in the US every year. The disease usually shows up in one eye, but disease can spread to the other eye. Treatment is the surgical removal of the eyeball.
"This research completely challenges conventional thinking and clinical practice," said Dr. Gallie, an ophthalmologist who is also affiliated with The Hospital for Sick Children (SickKids) and a professor of medicine at the University of Toronto.
Retinoblastoma is usually caused by mutation of a gene called RB1, which protects against cancer when functioning properly. This study finds that another type of the disease can occur from the formation of an oncogene, which promotes cancer growth.
According to Dr. Gallie, with this form of the disease, "there is believed to be zero risk for retinoblastoma developing in the other eye or in other infants in the family. This is a major advance in personalized cancer medicine for these children and families," Dr. Gallie said.
There are key differences in the two versions of retinoblastoma, the study found. The new type is very aggressive and tends to be growing long before the baby is born. So this type is diagnosed at a younger age – four months instead of 24 months for type that’s inherited.
One in five babies diagnosed with retinoblastoma before the age of six months, will have the form that’s controlled by a cancer gene, the authors said.
The tumors in the oncogene-driven cancer are larger than the tumors found in the inherited form of retinoblastoma.
Dr. Gallie said, “All the babies [in the study] were completely cured by surgery."
This study was published March 13 in The Lancet Oncology.
Funding for this research came from the National Cancer Institute—National Institutes of Health, Canadian Institutes for Health Research, the Canadian Retinoblastoma Society, Hyland Foundation, Toronto Netralaya and Doctors Lions Clubs, the Alcon Research Institute, the Ontario Ministry of Health and Long Term Care, Retinoblastoma Solutions and Solutions by Sequence (now Impact Genetics), the German Research Foundation, Avanti-STR, KiKa, VU University Medical Center, Ontario Institute for Cancer Research and the Government of Ontario, the Vision Science Research Program of the University Health Network and the University of Toronto and Queen's University School of Medicine.
One of the authors was part-owner of Solutions by Sequence and was a board member and is currently medical director of Retinoblastoma Solutions (now Impact Genetics). No other conflicts of interest were disclosed.