New study from our partners at Leiden University evaluates if certain mutations can influence the degree of inflammation in the tumour.
The set of mutations known as GNAQ and GNA11 are the first driver mutations (that allow for the initial development) identified in UM. Close to 85% of all UM tumours carry a mutation in either the GNAQ and GNA11 gene, and these mutations are mutually exclusive (which means that only one or the other occurs, but never both in the same cell).
One of the most common mutations that allows for UM development and growth is in the gene coding for the BRCA1-associated protein (BAP1), located on chromosome 3. BAP1 is considered a tumour suppressor gene — a gene that prevents cells from multiplying in excess and keeps them from becoming cancerous. Both the mutations in BAP1 and chromosome 3 are associated with a more aggressive disease.
This study evaluated if the different mutations that occur in either GNAQ or GNA11 have an impact in the degree of inflammation associated with the tumour. Higher levels of inflammation tend to be associated with more aggressive disease, which is why is an important feature to evaluate.
The authors concluded that there is no correlation between the mutations in GNAQ or GNA11 and inflammation status of the tumour. On the other hand, tumours that have mutations that resulted in the loss of chromosome 3 have higher degrees of inflammation and tend to have a more aggressive disease.
This study was presented at the ARVO 2019 Meeting as a poster communication