Search for Novel Genes in Osteosarcoma Revealed by Analysis of Tumour Copy-Number Alterations and Constitutional Copy-Number Variations
- To determine whether common copy-number alterations (CNAs) at chr7p14.1 arise de novo
in osteosarcoma (OS) tumor DNA or whether they represent progression of constitutional
copy-number variations (CNVs).
- To determine the association between constitutional CNVs at chr7p14.1 and
susceptibility to OS.
- To determine how CNVs translate into CNAs in tumor DNA samples from patients with OS.
OUTLINE: RNA and DNA samples from banked blood and paired tumor tissue, plus samples from
healthy controls, are analyzed for common copy-number alterations and constitutional
copy-number variations (CNVs) at chr7p14.1 by microarray, q-PCR, RT-PCR, and FISH.
Osteosarcoma predisposing CNVs results are then compared among cases versus healthy
Clinical information associated with each osteosarcoma sample (i.e., gender, age of
diagnosis, tumor site, tumor type and grade, presence of metastases at time of diagnosis,
response to chemotherapy, event-free survival, and overall survival) is also collected, if
PROJECTED ACCRUAL: A total of 243 samples from patients with osteosarcoma and 80 samples
from healthy controls will be accrued to this study.
Role of copy-number alterations (CNAs) in the etiology of osteosarcoma
David Malkin, MD
The Hospital for Sick Children
United States: Federal Government