HIGHLIGHTS
SUMMARY
Several recent studies have linked KTS to PIK3CA gene somatic variants, arterio-venous malformations (AVMs) to activating somatic variants in the KRAS gene, and lymphovenous malformations (LVMs) to TEK and PIK3CA mosaicism. Although a VAF lower than 2% was detected for some variants, the occurrence of either variant in the same gene or of the same variants in patients affected by a similar vascular phenotype and the absence of these variants in a control population further supports their causative role. Intriguingly, the authors have not found any recurrent mutation in venous malformation patients, but . . .
If you want to have access to all the content you need to log in!
Thanks :)
If you don't have an account, you can create one here.