US Flag logoAn official website of the United States government
Retinoblastoma Aqueous Humor Liquid Biopsy Repository
dbGaP
Data Resource:  dbGaP
Point of Contact:  
Jesse L. Berry, MD,  
Project

About This Dataset
This study involves the use of the aqueous humor (AH, the clear fluid in the front of the eye) as an organ specific liquid biopsy for retinoblastoma. This relatively new liquid biopsy platform was started at CHLA/USC and was developed to overcome the lack of tumor tissue -- due to contraindication to biopsy -- for this cancer. We have demonstrated that the aqueous humor is an enriched source of tumor DNA. Previously tumoral information was only available after the eye was removed for treatment failure. Due to the AH liquid biopsy, we are now able to assay tumor derived molecular information from these eyes at diagnosis and longitudinally during treatment -- as opposed to only eyes that have failed therapy. We have demonstrated that using the platform we can identify the specific mutations in the RB1 gene that initiate tumorigenesis in this cancer as well as the secondary chromosomal alterations the drive further tumor growth. This database will provide sequencing information as well as associated clinical information and globe salvage outcomes.
Core Data Elements
Number of Cases
81
Case Sex
Female (39); Male (42)
Case Age At Diagnosis
0 to 4 years (17); 5 to 9 years (10); 10 to 14 years (12); 15 to 19 years (7); 20 to 24 years (15); 25 to 29 years (8); 30 to 34 years (3); 35 to 39 years (5); Greater than 39 years (4)
Case Race
Asian (7); Black or African American (5); More Than One Race (8); Native Hawaiian or Other Pacific Islander (1); Other (20); White (40)
Case Ethnicity
Hispanic or Latino (34); Not Hispanic or Latino (41); Unknown (6)
Case Disease Diagnosis
Retinoblastoma (81)
Case Tumor Site
Eye (81)
Number of Samples
264
Sample Analyte Type
DNA (264)
Sample Anatomic Site
Eye (264)
Sample Is Normal
Yes (234); No (30)
Additional Data Elements
CLINICAL TRIAL IDENTIFIER
DBGAP STUDY IDENTIFIER
Grant Information
K08CA232344
Development of a surrogate liquid biopsy from the aqueous humor in retinoblastoma eyes
Published In
https://doi.org/10.3791/62939;https://doi.org/10.1038/s41467-022-33248-2
Charts
Male (42); Female (39)
42Male