New findings about bone cancer provide new diagnostic approach

New findings about Bone Cancer

Researchers at The Wellcome Trust Sanger Institute, the Royal National Orthopaedic Hospital and UCL Cancer Institute, have made a discovery that could improve the diagnosis of a common type of bone cancer. They found that a gene involved in the production of cartilage (COL2A1) is linked to the development of chondrosarcoma, which is a cancer-derived cartilage and the second most common malignant bone cancer.

The study also reveals new findings about an important signaling pathway that contributes to the development of bone cancer (Indian Hedgehog pathway). Although a therapy targeting this signaling pathway has already been developed, new research may lead to new therapeutic options for patients with bone cancer. Dr Patrick Tarpey, joint first author from the Wellcome Trust Sanger Institute, said they investigated the genetic profile of patients with this type of cancer and that their study highlights the importance of characterizing all types of cancer in order to develop improved diagnosis and treatment strategies. To see the role of gene mutations in the development of chondrosarcoma,  researchers analyzed functioning regions in 49 patients with chondrosarcoma. They found that 40% of these patients had mutations in COL2A1 gene.

Bones Cancer

COL2A1 gene is involved in the production of collagen, which is part of the cartilage. The study led by researchers at UCL Cancer Institute reveals for the first time that a collagen gene may be in the center of bone cancer development. Researchers believe that the increased activity of COL2A1 in cartilage cells can lead to the formation of mutations that can cause cancer.

According to the study, it appears that other types of bone cancer do not have mutations in the COL2A1 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. Dr Sam Behjati, joint first author from the Wellcome Trust Sanger Institute, said that the frequency of this mutation in chondrosarcoma is very interesting.

Also, researchers have made new discoveries about the signaling pathways involved in the development of chondrosarcoma. It seems that the two biological pathways, IHH and RB1, contribute to the occurrence of this type of cancer. It should be noted that there are already drugs that target IHH which are used to treat other types of cancer, which means it could be useful for patients with chondrosarcoma.

Chondrosarcomas usually occur in patients over 40 years and prognosis of these tumors varies depending on location, size and tumor grading. Standard treatment consists of surgical removal of the tumor, as radiotherapy and chemotherapy do not bring benefits.