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Structurally Complex Osteosarcoma Genomes Exhibit Limited Heterogeneity within Individual Tumors and across Evolutionary Time
dbGaP
Data Resource:  dbGaP
Point of Contact:  
Ryan D. Roberts,  
Project

About This Dataset
A key characteristic of osteosarcoma is extensive and complex genomic rearrangements. However, published models explaining how these genomic rearrangements occur disagree about if these rearrangements occur early in tumor progression and then are stable afterwards, or if there is ongoing genomic instability. Previous studies have employed bulk sequencing technologies to characterize genomic alterations. A limitation of this approach is that it averages all changes within the bulk sample, essentially masking intra-sample heterogeneity and making evaluation of ongoing genomic instability difficult. To overcome this limitation and compliment previous work, we utilized single-cell whole genome sequencing to quantify somatic copy number alterations (SCNA). By interrogating individual cells within a sample, we were able to examine intra-sample heterogeneity. We found that the SCNA patterns between cells within a single sample were remarkably consistent, which supports the concept that the genomes of osteosarcoma tumors are relatively stable after early genome fragmentation events.
Core Data Elements
Number of Cases
15
Case Sex
Female (3); Male (5)
Case Age At Diagnosis
5 to 9 years (5); 10 to 14 years (3); 15 to 19 years (7)
Case Race
Not Reported (15)
Case Ethnicity
Not Reported (15)
Case Disease Diagnosis
Osteosarcoma (15)
Number of Samples
19
Sample Analyte Type
DNA (19)
Sample Anatomic Site
Back (1); Blood (4); Femur (3); Humerus (2); Lung (9)
Sample Is Normal
Yes (4); No (15)
Additional Data Elements
DBGAP STUDY IDENTIFIER
Grant Information
K08CA201638
Elucidating and exploiting the mechanisms by which IL-6 and IL-8 facilitate osteosarcoma metastasis
R01CA260178
Targeting cooperative mechanisms of metastatic colonization in osteosarcoma
U24CA248453
Comprehensive and Robust Tools for Analysis of Tumor Heterogeneity and Evolution
Published In
https://doi.org/10.1158/2767-9764.crc-22-0348
Charts
Male (5); Female (3)
5Male