Dr Casmir Turnquist, who is based at the University of Oxford, has been awarded funding to take forwards important research focused on a rare type of primary bone cancer which predominantly affects young people. Mesenchymal chondrosarcoma accounts for approximately 3 in every 100 cases of chondrosarcoma. As well as being extremely rare, it is also very aggressive. However, patients are faced with extremely limited treatment options.
Using advanced technology, Dr Turnquist and team plan to develop a greater understanding of the underlying genetic changes which lead to mesenchymal chondrosarcoma, in the hopes of identifying a target for treatment.
The focus of their research will be on a key ‘fusion gene’. ‘Fusion genes’ are implicated in many different cancer types, particularly bone sarcomas (primary bone cancers) and soft tissue sarcomas. A fusion gene is created when two genes, which are not normally next to one another, rearrange themselves and become accidentally fused or stuck together. These fusion genes can then cause cells to become cancerous.
As fusion genes are only present in cancer cells, they represent an exciting opportunity for more targeted treatment, reducing the side effects and toxicities caused when cancer treatments also inadvertently cause damage to normal cells.
What are the aims of this research project?
This project aims to develop a greater understanding of a fusion between two specific genes (called HEY1 and NCOA2), which are known to be involved in the development of mesenchymal chondrosarcoma. So far, little is known as to how exactly this fusion gene causes normal cells to become cancerous and to rapidly multiply ‘unchecked’, leading to the development of a tumour.
The researchers have developed a technique to analyse this at the level of a single cell, isolated from
tumours which have been surgically removed. They aim to investigate how each individual cell
responds to the presence of the fusion gene, since this can vary, with some cells being able to ‘switch
off’ the fusion gene and prevent cancerous transformation.
How could this project improve treatment options for primary bone cancer patients in the future?
Through this research, the HEY1-NCOA2 fusion gene in mesenchymal chondrosarcoma offers hope as
a potential target for what is currently considered to be an ‘undruggable’ cancer.
If successful, Dr Turnquist and team hope that their technique could represent a ‘blueprint’ for other bone sarcomas which are also driven by fusion genes, leading to a greater understanding of their underlying biology. This could in turn be harnessed to develop kinder and more effective treatment options.
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