A consortium of researchers in the UK plans to sequence the whole genomes of 50 patients with osteosarcoma, and the whole-exomes of 100 additional samples, in an effort to develop personalized blood tests for patients and identify novel genes involved in the disease.
The research is being funded by the Skeletal Cancer Action Trust, and involves researchers and clinicians from the University College London Cancer Institute, the Royal National Orthopaedic Hospital, and the Wellcome Trust Sanger Institute.
The goal of the project is two-fold: the exome sequencing portion of the study will look for genes that underlie the genesis of the disease, while whole-genome sequencing of patients' plasma will be used to look for patient-specific rearrangements that can be used as the basis for a test.
Patients will be sequenced both before and after treatment with chemotherapy to see if the specific mutations could be used as biomarkers to monitor how individual patients are responding to treatment.
Currently, osteosarcoma patients are monitored by using imaging techniques to scan tumors. This method contrasts with blood cancers, which are "monitored using simple tests that pick up recurring mutations in tumor cells in the blood and show how a patient is responding to treatment," Peter Campbell, a group leader at the Wellcome Trust Sanger Institute, said in a statement. The new project will try and develop similar tests for osteosarcomas.
"We hope that this research project will improve the way patients with cancer are monitored and will guide the best drug treatment for the cancer in each patient," Adrienne Flanagan from the UCL Cancer Institute and Medical Director of the Royal National Orthopaedic Hospital, said.