New Discoveries in GBM Research: the AVIL, oncogene

Hi folks, many of you forwarded the article about the AVIL gene to me. I had more questions than answers for you, so I went straight to the source and spoke with Professor Li, whose research team made the recent discovery.

Prof. Hui Li, who describes himself as a “general cancer biologist”, said the initial finding was “serendipitous”, that they were looking at gene fusions in pediatric cancers and noticed the AVIL. They then checked a sample of GBM cells and found that 100% over-expressed AVIL.

Here’s what we know:

AVIL is part of the normal cell processes, involved in the development of neuronal cells. It is usually not expressed in normal cells, but in GBM cells, it is over-expressed 100% of the time! The researchers are calling it an oncogene, or a gene that can stimulate cancer development, but are not currently sure where it comes in, timing-wise, in the process that a normal cell takes to become a GBM cell. It is special because it is druggable, meaning it can be inhibited with a drug. Different from tumor suppressor genes that are already inhibited (the guards lying down on the job), where stimulating them to do their job with a drug has not been fruitful, the AVIL gene is a promoter gene and it can be inhibited. For now, the team has developed a novel small molecule inhibitor drug that they created just for their cellular experiments, but this is years away from being in human studies.

Also, this gene is not going to be on your tumor molecular testing results. It is activated in GBM not due to a gene mutation or an amplification, which is what is screened for on tumor gene tests. Instead, it is the protein that matters, and we presently don’t have a good way to test people for it.

It’s a very exciting discovery, but one we will have to wait for more developments on.

Prof. Li’s recent publication:

https://www.nature.com/articles/s41467-020-17279-1?fbclid=IwAR2oZFlSuEgCktUrX9I7oidRJ3_GirRjzxSkGsmnJzY_fiB9W1_o85ksKMQ