Cancer drug could treat blood vessel deformities

A drug currently being trialled in cancer patients could also be used to treat an often incurable condition that can cause painful blood vessel overgrowths inside the skin, finds new research in mice led by UCL, Memorial Sloan Kettering (MSK) Cancer Center in New York and the Bellvitge Biomedical Research Institute (IDIBELL) in Barcelona. Researchers genetically engineered mice with a mutation in PIK3CA, a gene linked to cancer, and these mice unexpectedly developed venous malformations (VMs). VMs are characterized by deformed, swollen blood vessels. These vessels may appear just under the skin, causing pain and disfigurement, or deep in the body, leading to various health issues. One in 5,000 people are born with VM and there is no effective cure. To verify the model, the teams genetically tested VM patient samples from 13 children participating in skin genetics research conducted by Dr Veronica Kinsler (UCL Institute of Child Health), and 32 patients from MSK and Hospital de la Santa Creu i Sant Pau (Barcelona). This revealed that around a quarter of them had the same type of PIK3CA mutation as was engineered in the mice used in the study.
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