Recent research has discovered a common alteration in genes present in Ameloblastoma - a rare, non-cancerous tumour - which may be a breakthrough for developing treatments for this tumour

What is Ameloblastoma?

Ameloblastoma is a rare, benign, tumour of the bone which can occur in the lower or upper jaw bone. Although this tumour is non-cancerous, it is important that it is managed correctly to prevent bone destruction in the jaw or surrounding area that can occur if the ameloblastoma is not treated correctly.

Research Breakthrough for Ameloblastoma:

Research into how an ameloblastoma develops has led to a great breakthrough in the study and treatment of this tumour. Professor Kristiina Heikinheimo, a researcher in Finland, made this breakthrough when she discovered a gene mutation that is present in ameloblastomas. A gene mutation is an abnormality in an individual’s DNA sequence which can alter the way in which the affected gene works, which can have negative effects on the body.

The study, carried out by Professor Heikinheimo and her team, analysed 24 tumour samples of ameloblastoma and 15 of these tumours (63%) held the same gene mutation. The mutation discovered is known as ‘BRAF v600E’, which has previously been identified and targeted in other cancer types. This mutation leads to an increased driving force behind the growth and division of cells which can ultimately lead to the formation of a tumour.

Can we target the BRAF v600E mutation to treat Ameloblastoma?

The discovery of the BRAF v600E mutation in ameloblastoma is a great step to make regarding the production of novel and targeted therapies for this tumour. Drugs, known as Vemurafenib and Dabrafenib, have already been developed and licensed for use in other cancer types and so if these are of use in ameloblastoma this creates a significant shortcut from discovery to drug development.

The use of these BRAF v600E targeted drugs will first need to be assessed in ameloblastoma to ensure this mutation target is feasible and to determine any additional mutations or drivers of ameloblastoma that may be presenting.

Read the full scientific article on how this discovery was made here.

For more information on Ameloblastoma and how it is diagnosed and treated, please see our information page on this tumour type here.