CCDC - Childhood Cancer Data Catalog

The genomic complexity of sporadic and inherited retinoblastoma with a matched orthotopic xenograft

dbGaP

Data Resource: dbGaP

Point of Contact:

Michael A. Dyer, PhD,

michael.dyer@stjude.org

Project

About This Dataset

Retinoblastoma is a pediatric cancer of the developing retina. All retinoblastomas are believed to initiate with biallelic inactivation of the RB1 gene. To identify subsequent genetic lesions in retinoblastoma, we performed whole genome sequencing of tumor and normal DNA of 4 children with retinoblastoma and one matched orthotopic xenograft. Both alleles of RB1 were inactivated in the tumor samples. 3 of the patients had sporadic retinoblastoma and one patient had inherited retinoblastoma. Overall, there were few single nucleotide changes in coding regions of the genome and some of the tumors had few chromosomal lesions. There were very few new genetic lesions in the xenograft compared to the primary tumor. These data suggest that the genome in retinoblastoma is more stable than previously believed and there are relatively few recurrent genetic lesions in known cancer pathways other than the RB1 pathway.

Core Data Elements

Number of Cases

46

Case Sex

Female (25); Male (21)

Case Age At Diagnosis

0 to 4 years (43); 5 to 9 years (3)

Case Race

Black or African American (13); White (24); Not Reported (9)

Case Ethnicity

Not Reported (46)

Case Disease Diagnosis

Retinoblastoma (46)

Case Tumor Site

Eye (46)

Number of Samples

5

Sample Assay Method

Whole Genome Sequencing (5)

Additional Data Elements

DBGAP STUDY IDENTIFIER

Grant Information

P30CA021765

Cancer Center Support Grant (CCSG)

R01EY018599

Proliferation and Differentiation of Retinal Stem Cells

Published In

https://doi.org/10.1038/nature10733

https://doi.org/10.1038/nature10733

Charts

Female (25); Male (21)