Detecting Retinoblastoma


LOS ANGELES, Calif. (Ivanhoe Newswire) – Retinoblastoma: it’s an aggressive cancer in children that robs them of their sight. Now doctors have found a new way of detecting retinoblastoma that may end up saving the child’s eyes and life.

Loving … funny … creative … you would never know six years ago Ruby Chan was born three months premature. Three months later she was diagnosed with a life-threatening, sight-stealing disease.

Nellie Chan, Ruby’s mom, said, “She wasn’t even supposed to be born yet at this point and they were like, we’d like to take her eye out tomorrow.”

Diagnosed with retinoblastoma, a cancer of the eye where tumors develop behind the retina. Instead of operating her parents researched. They found ocular oncologist at Children’s Hospital Los Angeles Jesse Berry, MD. Berry developed a liquid biopsy for children like Ruby that answers many of the unknowns.

Berry told Ivanhoe, “How likely is it that an eye will respond to therapy and how likely is it that an eye might have continued recurrence even in spite of treatment?”

Using a needle, a pea-sized amount of liquid is extracted.

“Instead of placing the needle directly into the tumor, we actually extract a very little bit of liquid called the aqueous humor from the front of the eye,” Berry explained.

In a research setting only, that liquid is tested for DNA molecules that are shed from the tumor cells. Doctors can predict with 75 to 85 percent accuracy if the tumor will respond to standard treatments. Ruby had chemo to reduce the size of the tumors and more than 70 laser procedures to burn the edges of them.

“We go to the hospital for my eye,” Ruby said.

Tumors in Chan’s left eye have not impacted her sight. The original tumor in Chan’s right eye has left her with 25 percent of her vision.

“My eye can’t see very well,” Chan exclaimed.

But with the help of targeted therapies they’re hoping to save both of Ruby’s eyes.

Children’s Hospital Los Angeles is now running a multicenter trial. So, following strict research protocols, surgeons from all over the country can take a sample of the aqueous humor and send it to Dr. Berry and her team for evaluation. But parents, be aware. The best detection may be you! When looking at your child’s photograph, instead of the typical red eye from flash photography in a child with retinoblastoma, the pupil will appear white.

Contributors to this news report include: Cyndy McGrath, Executive Producer; Marsha Lewis, Field Producer; Rusty Reed, Videographer; Roque Correa, Editor.

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REPORT:       MB #4688

BACKGROUND: Retinoblastoma is an eye cancer that begins in the sensitive lining on the inside of the eye. Three-hundred children are diagnosed with the cancer each year with children under four being diagnosed the most. The disease accounts for about three percent of all cancers for children up until 14 as well. It mainly affects children. Symptoms include eye swelling or redness, white color in pupils, or the eye looking in a different direction. It is caused when the nerve cells in the retina have genetic mutations. The mutation causes the cells to continue to grow and forms a tumor.


DIAGNOSING: Doctors use a multitude of tests to diagnose retinoblastoma. They use an ultrasound and CT scans to make a drawing of the tumor in the eye. They will also use blood tests and lumbar puncture. They might use a hearing test to make sure the drugs that the child is given does not cause hearing loss. From there, there are two main types of retinoblastoma, intraocular and extraocular. Intraocular means that the cancer is in one or both eyes but has not spread to other parts of the body, while extraocular means it has spread. There are five stages of intraocular cancer. Small tumors are the lowest stage; vitreous hemorrhage is the highest stage. As for extraocular, there are five stage 0-5, where the stage zero means the cancer is still intraocular, and stage four which means the tumor has spread via the blood vessels to distant parts of the body.


NEW TECHNOLOGY: There has been much research conducted in the past few decades that have led to higher cure rates and fewer side effects. Researchers have learned that using focal treatments like laser therapy kills tumor cells more precisely. They have begun to examine ways of taking advantage of the gene changes in the cells of retinoblastoma. They are trying to use VCN-01, a virus modified in the lab to infect and excise cells that don’t have copies of the RB1 Gene. This test is in early clinical trials. Researchers from the Children’s Hospital Los Angeles are looking into using a liquid biopsy to help provide the genetic profile of the retinoblastoma tumors.



Marlen Bugarin, Sr. Public Relations Specialist


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