An international team of researchers have identified mutations in two genes linked to a rare cancer of the inner lining of blood vessels.
Angiosarcoma is a rare and aggressive cancer of the endothelial cells that line blood vessels. It can occur in any organ of the body and frequently recurs or metastasises, despite the conventional current aggressive treatment available.
The PTPRB and PLCG1 genes play an important role in blood vessel formation and remodeling, a process called angiogenesis.
The work of the research team, which included BRC-supported Professor Adrienne Flanagan, indicates that overactive angiogenesis contributes to the development of angiosarcoma and paves the way for research into targeted therapies.
The study, published in this month’s Nature Genetics, found PTPRB mutations in 45% of angiosarcomas that developed following radiation treatment of a primary tumour, suggesting mutations were extremely unlikely to have accumulated by chance and that radiation treatment is a driver event.
As angiosarcoma is rare, a larger patient cohort needs to be studied
to investigate further the disease’s pathogenesis. The next challenge for the team will be to use these new findings to explore how these genetic mutations influence and are influenced; and if they can be targeted in therapy.
The study was led by a team at the Wellcome Trust Sanger Institute along with collaborators from across Europe and USA.
Click here to view ‘Recurrent PTPRB and PLCG1 mutations in angiosarcoma’ in full.
