Identification of phenotypic effects of genomic changes in retinoblastoma tumors using an aqueous humor liquid biopsy
Mentor Name: Jesse Berry
Retinoblastoma is the most common pediatric eye cancer; affecting either one or both eyes of babies and toddlers, it is typically diagnosed before the age of 3. A critical issue in the management of this malignancy is that tumor biopsy cannot be performed due to the risk of extraocular tumor spread. Consequently, tumor tissue is not routinely evaluted for retinoblastoma, and undestanding of the molecular etiology underlying various clinical features of the disease is limited. To overcome this, Berry et al discovered that aqueous humor--a clear fluid found in the eye--harbors abundant tumor-derived DNA. As the aqueous can be safely extracted from the eye, this has ushered in the use of the aqueous as a ‘liquid biopsy’ for retinoblastoma, allowing access to the genomic information of retinoblastoma tumor cells. Our project proposes to use aqueous humor from patient samples to isolate cell-free DNA derived from tumors and correlate the genomic alterations in the tumor(s) with phenotypic characteristics of the eye(s) and the patients. This will allow for direct comparison to discover genetic alterations that will aid in providing the highest quality of personalized prognosis and treatment for each patient.
