Novel Cancer-Causing Mutation Discovered in Chondrosarcoma

A new study into osteosarcoma will attempt to identify new genes that give rise to the condition and to create personalized blood tests for children and young adults with the condition.

In the new program, scientists will search for changes in the genomes of cancer patients, trying to pinpoint genes underlying the disease. At the same time, they will develop new tools to monitor the disease in patients through the course of treatment. They expect that their methods, which look for tumor-specific DNA in the bloodstream of patients, will become routine for patients in the future.

Professor Adrienne Flanagan, consultant pathologist at the Royal National Orthopaedic Hospital (RNOH; Brockley Hill, United Kingdom) and scientist at UCL Cancer Institute (London, United Kingdom) working with colleagues from the Wellcome Trust Sanger Institute (Cambridge, United Kingdom), discovered a novel cancer-causing mutation in chondrosarcoma, the second most common cancer of bone. The results of this study were published on July 11, 2011, in the Journal of Pathology.

"Currently, the response of patients with osteosarcomas to treatment is monitored by scanning tumors using imaging techniques," said Dr Peter Campbell at the Wellcome Trust Sanger Institute. "In contrast, blood cancers have long been monitored using simple tests that pick up recurring mutations in tumor cells in the blood and show how a patient is responding to treatment. The new project aims to see if we could develop and apply similar methods to osteosarcomas."

Each year approximately 80 children and young adults develop osteosarcoma in the UK. This painful cancer of the bone tends to affect children and young adults and is normally treated using chemotherapy and surgery. The causes of the disease are not well known and measuring response to treatment relies on scanning and imaging. The new study seeks to bring both greater understanding to processes of developing the condition and create improved methods of measuring disease regression.

The team will sequence the complete genome of 50 patients with osteosarcoma and will look in the plasma in many of these patients before and after chemotherapy treatment to find rearrangements--shuffled chunks of DNA--in the small amounts of DNA that have leaked out from the osteosarcoma into the bloodstream. They will be searching for rearrangements that are specific to each patient.

By developing a picture of the unique profile of mutations of each patient's cancer and then using these mutations to monitor the amount of cancer derived DNA circulating in the blood, the clinicians hope they can deliver treatments to patients in a personalized way

The study is funded by Skeletal Action Cancer Trust, (SCAT; Brockley Hill, United Kingdom).

Related Links:
Royal National Orthopaedic Hospital
UCL Cancer Institute
Wellcome Trust Sanger Institute