Cancer researchers have stumbled on a genetic cause of venous malformations, it was announced last night.
The discovery also means that a cancer drug may be able to treat these conditions, which affect some one in 5,000 people from birth.
It has been made simultaneous by researchers in London and Spain and by a research team in New York.
Researchers at University College London spotted the link between the PIK3CA gene, which is linked to cancer, and venous malformation when they genetically engineered mice to carry the genetic mutation. The mice were then born with the venous problem.
The discovery suggests the drug rapamycin could help treat the condition as it stops some of the effects of the PIK3CA gene.
The findings from University College, London, and from the Memorial Sloan Kettering Cancer Center, New York, were published in Science Translational Medicine last night.
The London researchers worked with doctors at the Hospital de la Santa Creu i Sant Pau, Barcelona, and with the New York researchers to test their findings on samples from some 45 patients. This showed that about 25% of the patients had the gene mutation.
Researcher Professor Bart Vanhaesebroeck said: "It is incredibly exciting to have stumbled across new treatment options for these blood vessel disorders, essentially by accident.
“We originally set out to investigate cancer by inducing PIK3CA mutations in mice, with no idea that they might be linked to other diseases."
He added: "When we showed samples from the mice to Professor Neil Sebire in histopathology at Great Ormond Street Hospital, we were all shocked when he said the samples looked exactly the same as those from patients with venous malformation.
"It’s still not clear why this mutation causes venous malformation instead of cancer in these patients, so further research in this area could offer valuable insights into how to stop tissue from becoming cancerous.”
Castillo et al. Somatic activating mutations in PIK3CA cause sporadic venous malformations in mice and humans. Science Translational Medicine 30 March 2016
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