Researchers have discovered a link between a gene fundamental to the production of cartilage and the bone cancer chondrosarcoma.
The discovery, published in Nature Genetics, offers new ways of diagnosing this tumour and possible new treatments. Chemotherapy and traditional radiotherapy provide no significant benefit. The clinical pathology component of the research was led by BRC-supported Professor Adrienne Flanagan.
Chondrosarcoma usually develops a slow-growing tumour, and the most common sites affected are the pelvic bones, the shoulder bones, the upper parts of the arms and legs, and the ribs.
The study screened tumours from 49 patients with chondrosarcoma and found that in nearly 40% of cases mutations in the gene COL2A1 played a role in cancer development.
The study also reveals new findings about an important signalling pathway that contributes to the development of bone cancer. Although a therapy targeting this signalling pathway has already been developed, this new research may lead to new therapeutic options for patients with bone cancer.
COL2A1 is the gene for a type of collagen. Collagens are fibrous proteins that are responsible for the tensile strength of bone, cartilage and other tissues. This collagen is particularly important for the development of cartilage and thus the gene is very active in cartilage cells. This is the first time that a collagen gene has been shown to be involved in the development of a cancer. The team speculates that the high activity of COL2A1 in cartilage cells could contribute to the formation of mutations that underlie the development of chondrosarcoma.
The team looked at the activity of COL2A1 in other bone cancers but did not find mutations in the gene, which means that the high frequency of this mutation in chondrosarcoma could become a useful marker in the diagnosis and differentiation from other types of bone cancer.
Read the full paper ‘Frequent mutation of the major cartilage collagen gene COL2A1 in chondrosarcoma’ in Nature Genetics here.
