Mutation in a cancer-causing gene could exacerbate cerebral cavernous malformations in the brain

Mutation in a cancer-causing gene could exacerbate cerebral cavernous malformations in the brain.
"Using mouse genetic models of CCM formation, the researchers discovered that it is the additional "hit" that stimulates the known cancer-causing gene PIK3CA and leads to the rapid growth of existing CCMs. When they examined resected human CCM tissue, they saw the same genes were involved, which supports the idea of a "cancer-like" mechanism for accelerated blood vessel malformation growth in which small quiescent CCMs become "malignant" after a new gene mutation occurs.

In cancer, the PIK3CA mutation results in an increase in PI3K-mTOR signaling, which is a well-established drug target for the treatment of tumors. Rapamycin is an FDA-approved drug that inhibits that same signaling pathway and has been used to treat malformations in the veins and lymphatic system. Here, rapamycin significantly reduced CCM formation in genetic mouse models, suggesting it could be potentially used as a treatment".

https://www.news-medical.net/news/20210428/Mutation-in-a-cancer-causing-gene-could-exacerbate-cerebral-cavernous-malformations-in-the-brain.aspx

Another possibility for paxalisib's use.

Regards.