Retinoblastoma Cancer

ReMission Foundation is pleased to support Dr. Carol Shields and her retinoblastoma cancer research. Dr. Shields is a member of numerous ocular oncology, pathology, and retina societies and has delivered 57 named lectures in America and abroad. She has also been active in the American Academy of Ophthalmology. She serves on the editorial/advisory board of 31 journals including JAMA Ophthalmology, Retina, Ophthalmic Plastic and Reconstructive Surgery, and International Journal of Clinical Oncology.

Currently Dr. Shields and her fellow investigators are researching new treatments for retinoblastoma, a cancer of the eye that occurs in children, usually within the first 2 or 3 years of life. This cancer grows fairly rapidly over a period of several months and cannot be seen because it is hidden in the eye. Fortunately, survival rates from retinoblastoma treatment have increased dramatically in the U.S. (98%) but still lag behind globally (~50%). Researchers discovered that the malignancy is caused by a mutation in chromosome 13q14, called the RB1 mutation. This mutation is found in nearly every retinoblastoma. If the mutation is found in the blood, the child is then labeled as having germline mutation whereby, he/she is at risk for multiple other cancers in the body due to the prevalent mutation. The importance of establishing this mutation is profound as it impacts the child’s management and future risks.

In the past, establishing the precise genetic mutation in chromosome 13 was only possible with direct tumor tissue from the removed eye, thus the mutation could only be understood if the eye was enucleated. But Dr. Shields and her team are researching a new treatment technique called liquid biopsy that would hopefully save the patient's eye and allow doctors to understand the exact mutation that lead to the cancer's development. Information learned from the liquid biopsy is utilized to protect the child from further cancers and protect the child's future offspring from developing this cancer.

For 2019, ReMission Foundation is helping raise funds to support Dr. Shields liquid biopsy research project which will sample free floating DNA (cell-free DNA (cf-DNA)) in the clear liquid in the front part of the eye (aqueous humor) to establish the precise cancer-causing genetic mutation. To learn more about Dr. Shields and her work in retinoblastoma research, please visit Carol Shield's at Wills Eye Hospital